Conditions
Starting with X
Private, moderated rooms - one per condition - with verified information and people who get it.
XanthinuriaA purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.Xanthinuria Type IA xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that is caused by homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23.Xanthinuria Type IIA xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that is caused by homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12.Xanthogranulomatous CholecystitisA cholecystitis characterized by nodules containing lipid-laden macrophages.XanthomatosisA lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.Xeroderma PigmentosumExtreme sensitivity to sunlight that can cause skin cancer.Xeroderma Pigmentosum Group aA xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that is caused by caused by homozygous or compound heterozygous mutation in the XPA geneXeroderma Pigmentosum Group BA xeroderma pigmentosum characterized by that is caused by mutation in the ERCC3 gene on chromosome 2q14.Xeroderma Pigmentosum Group CA xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that is caused by mutation in the XPC gene on chromosome 3p25.Xeroderma Pigmentosum Group DA xeroderma pigmentosum that is caused by homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.Xeroderma Pigmentosum Group EA xeroderma pigmentosum characterized by a mild phenotype that is caused by homozygous mutation in the DDB2 gene on chromosome 11p11.Xeroderma Pigmentosum Group FA xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that is caused by homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.Xeroderma Pigmentosum Group GA xeroderma pigmentosum that is caused by homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.Xeroderma Pigmentosum Variant TypeA xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that is caused by mutations in the POLH gene on chromosome 6p21.1.XerophthalmiaA dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency.XFE Progeroid SyndromeA progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that is caused by homozygous mutation in the ERCC4 gene on chromosome 16p13.Xia-Gibbs SyndromeAn autosomal dominant intellectual developmental disorder that is caused by an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3.X-Linked Aarskog SyndromeA syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.X-Linked Adrenal Hypoplasia CongenitaAn adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and is caused by the nuclear receptor NR0B1 (DAX1) gene.X-Linked AgammaglobulinemiaAn agammaglobulinemia that is that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by theX-Linked Alport SyndromeAn Alport syndrome that is caused by mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5).X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 2An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.X-Linked Atrophic Macular DegenerationA macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that is caused by hemizygous mutation in RPGR on chromosome Xp11.4.X-Linked Cardiac Valvular DysplasiaA heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that is caused by mutation in the FLNA gene on chromosomeX-Linked Central Diabetes InsipidusA central diabetes insipidus that is caused by X-linked inheritance.X-Linked Cerebellar AtaxiaA hereditary ataxia characterized by X-linked inheritance.X-Linked Chondrodysplasia Punctata 1A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that is caused by a mutation in the ARSE gene on chromosome Xp22.X-Linked Chondrodysplasia Punctata 2A chondrodysplasia puncata that is caused by mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.X-Linked Chronic Granulomatous DiseaseA chronic granulomatous disease characterized by X-linked inheritance that is caused by mutation in the CYBB gene on chromosome Xp21.1-p11.4.X-Linked Chronic Idiopathic Intestinal Pseudo-ObstructionAn intestinal pseudo-obstruction that is caused by mutations in the FLNA gene on chromosome Xq28.X-Linked Cleft Palate with or Without AnkyloglossiaA cleft palate that is caused by mutation in the TBX22 gene on chromosome Xq21.X-Linked Cone-Rod Dystrophy 1A cone-rod dystrophy that is caused by mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11.X-Linked Cone-Rod Dystrophy 2A cone-rod dystrophy that is caused by variation in the chromosome region Xq27.X-Linked Cone-Rod Dystrophy 3A cone-rod dystrophy that is caused by mutation in the CACNA1F gene on chromosome Xp11.X-Linked Congenital Bilateral Absence of Vas DeferensA congenital bilateral absence of vas deferens that is caused by mutation in the ADGRG2 gene on chromosome Xp22.13.X-Linked Congenital Hemolytic AnemiaA congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that is caused by hemizygous mutation in the ATP11C gene on chromosome Xq27.1.X-Linked Congenital HydrocephalusA congenital hydrocephalus that is caused by homozygous mutation in the L1CAM gene on chromosome Xq28. Additional features include stenosis of the aqueduct of Sylvius, adducted thumbs, spastic paraparesis and impaired inX-Linked Congenital Myopathy with Fiber-Type DisproportionA congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that is caused by mutation in the chromosome region Xq13.1X-Linked Deafness 1An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that is caused by mutation in the PRPS1X-Linked Deafness 2An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that is caused by hemizygous or homozygous mutation in POU3F4 or upstream regX-Linked Deafness 3An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onsetX-Linked Deafness 4An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that is caused by mutation in the SMPX gene on chromosome Xp22.12.X-Linked Deafness 5A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that is caused by hemizygous or homozygous mutation in the AIFM1 geneX-Linked Deafness 6An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that is caused by mutationX-Linked Deafness 7An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that is caused by homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq2X-Linked Distal Spinal Muscular Atrophy 3A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that is caused by homozygous or hemizygouX-Linked Dominant DiseaseA X-linked monogenic disease that is caused by dominant inheritance.X-Linked Dyserythropoietic AnemiaAn anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that is caused by hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairsX-Linked Dyskeratosis CongenitaA dyskeratosis congenita that is caused by an X-linked recessive mutation of the DKC1 gene on chromosome Xq28.X-Linked Dystonia-ParkinsonismA focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that is caused by X-linked recessive inheritance of SVA retrotransposon inserX-Linked Emery-Dreifuss Muscular Dystrophy 1An Emery-Dreifuss muscular dystrophy that is caused by an X-linked recessive mutation of EMD on chromosome Xq28.X-Linked Emery-Dreifuss Muscular Dystrophy 6An Emery-Dreifuss muscular dystrophy that is caused by an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.X-Linked Endothelial Corneal DystrophyA corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.X-Linked Epilepsy with Variable Learning Disabilities and Behavior DisordersAn epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that is caused by heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2.X-Linked Exudative Vitreoretinopathy 2An exudative vitreoretinopathy that is caused by mutation in NDP on chromosome Xp11.3.X-Linked Hereditary AtaxiaA hereditary ataxia that is characterized by X-linked inheritance.X-Linked Hereditary Sensory NeuropathyA hereditary sensory and autonomic neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life without autonomic dysfunction.X-Linked Hyper IGM SyndromeA hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that is caused by a mutation in the CD40LG gene on chromosome Xq26.3.X-Linked HypoparathyroidismA hypoparathyroidism that is caused by mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3.X-Linked Hypophosphatemic RicketsA rickets that is caused by X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and cX-Linked IchthyosisAn ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and isX-Linked Immunodeficiency 74A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that is caused by hemizygous mutation in the TLRX-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection, and NeoplasiaA T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and is caused by X-linked inheritance of mutations in the gene encoding magnesX-Linked Intellectual Developmental Disorder 108A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that is caused by hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3.X-Linked Intellectual Developmental Disorder 109A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and aX-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure SyndromeA syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs thX-Linked Intellectual Disability-Hypotonic Facies Syndrome-1A syndromic X-linked intellectual disability that is characterized primarily by severely impaired intellectual development, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that is causeX-Linked Intellectual Disability-Psychosis-Macroorchidism SyndromeA syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that is caused by mutation in the MECP2 gene on chromosome Xq28.X-Linked Intellectual Disability-Short Stature-Overweight SyndromeA syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in oldX-Linked Juvenile Retinoschisis 1A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that is caused by the RS1 gene on chromosome Xp22.X-Linked Keratosis Follicularis Spinulosa DecalvansA keratosis follicularis spinulosa decalvans that is caused by mutation in the MBTPS2 gene.X-Linked Lissencephaly 1A lissencephaly characterized by classic lissencephaly and intellectual disability in males that is caused by mutation in DCX on chromosome Xq23.X-Linked Lissencephaly 2A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that is caused by mutation in ARX on chromosome Xp21.3.X-Linked Lymphoproliferative Syndrome 1A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, andX-Linked Lymphoproliferative Syndrome 2A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that is caused by mutationX-Linked Mental Retardation Gustavson TypeA syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhX-Linked Monogenic DiseaseA monogenic disease that is caused by mutations in genes on the X chromosome.X-Linked Mutilating Palmoplantar Keratoderma with Periorificial Keratotic PlaquesA mutilating palmoplantar keratoderma with periorificial keratotic plaques that is caused by hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12.X-Linked Myopathy with Excessive AutophagyA myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, is caused by mutation in the VMA21 gene on chroX-Linked Nephrogenic Diabetes InsipidusA nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that is caused by a mutation in the gene encoding the vasopresX-Linked Nephrolithiasis Type IA renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that is caused by hemizygous or homozygousX-Linked Neurodevelopmental Disorder with Poor or Absent Speech and Behavioral AbnormalitiesA syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, hypotonia with delayed walking or inability to walk, severe-to-profound intellectual disability with poor orX-Linked Nonsyndromic DeafnessA nonsyndromic deafness characterized by an X-linked inheritance mode.X-Linked PanhypopituitarismA combined pituitary hormone deficiency that is caused by duplications in the SOX3 gene on chromosome Xq27.1.X-Linked Parkinsonism-Spasticity SyndromeA movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that is caused by hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4.X-Linked Properdin DeficiencyA complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that is caused by homozygous or hemizygous mutation in PFC on cX-Linked Recessive DiseaseA X-linked monogenic disease that is caused by recessive inheritance.X-Linked Recessive Hypophosphatemic RicketsA rickets that is caused by mutation in the CLCN5 gene on chromosome Xp11.22.X-Linked Reticulate Pigmentary DisorderA pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hX-Linked Retinitis Pigmentosa and Sinorespiratory InfectionsA syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that is caused by mutation in the RPGR gene on chromosome Xp11.4.X-Linked Severe Combined ImmunodeficiencyA severe combined immunodeficiency that is a X-linked SCID that is caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functionalX-Linked Severe Congenital NeutropeniaA severe congenital neutropenia that is caused by hemizygous activating mutation in WAS on chromosome Xp11.23.X-Linked Sideroblastic Anemia with AtaxiaA sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and is caused by the mutation in the ABCB7 gene.X-Linked Spermatogenic Failure 1A Sertoli cell-only syndrome characterized by X-linked inheritance.X-Linked Spermatogenic Failure 2A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that is caused by X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13.X-Linked Spermatogenic Failure 3A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that is caused by hemizygous mutation in the CFAP47 gene on chromosome Xp21.1.X-Linked Spermatogenic Failure 4A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that is caused by hemizygous mutation in the GCNA gene on chromosome Xq13.1.X-Linked Spermatogenic Failure 5A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that is caused by hemizygous mutation in the SSX1 gene on chromosome Xp11.23.X-Linked Spermatogenic Failure 6A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that is caused by hemizygous mutation in the USP26 gene on chromosome Xq26.2.X-Linked Spermatogenic Failure 7A spermatogenic failure characterized by sperm with insufficient individualization, excessive residual cytoplasm, acrosome defects, and abnormalities of the head and flagella, resulting in significantly reduced sperm conX-Linked Spermatogenic Failure 8A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that is caused by hemizygous mutation in the CYLC1 gene on chromosX-Linked Spermatogenic Failure 9A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest that is caused by hemizygous mutation in the RBBP7 gene on chromosome Xp22.X-Linked Spinal Muscular Atrophy 2A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that is caused by hemizygousX-Linked Spinocerebellar Ataxia 1An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that is caused by hemizygous mutation in the ATP2B3 geneX-Linked Spinocerebellar Ataxia 2An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance.X-Linked Spinocerebellar Ataxia 3An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance.X-Linked Spinocerebellar Ataxia 4An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance.X-Linked Spinocerebellar Ataxia 5An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that is caused by hemizygous mutation in region of chromosome Xq25-q27.1.X-Linked Spondyloepimetaphyseal DysplasiaA spondyloepimetaphyseal dysplasia that is caused by hemizygous mutation in BGN on chromosome Xq28.X-Linked Spondyloepiphyseal Dysplasia TardaA spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and is caused by mutation in the SEDL gene on chromosome Xp22.X-Linked Thrombocytopenia with Beta-ThalassemiaA hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that isX-Linked Thrombophilia Due to Factor IX DefectA thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that is caused by hemizygous gain of function mutation in F9 on chromosome Xq27.1.X-Linked VACTERL AssociationA VACTERL association that is caused by mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2.X-Linked Warfarin SensitivityAn inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that is caused by variation in the F9 gene on chromosome Xq27.
Don't see your condition? Join the waitlist - new rooms open in waves.