Disease Browser
|
Parent Node: Choroid Diseases (D015862) | Parent Node: Eye Diseases, Hereditary (D015785) | Parent Node: Genetic Diseases, X-Linked (D040181) | ..Starting node ..Choroideremia (D015794)
| Child Nodes:
| ........Ayazi syndrome (C537793) | ........Van Den Bosch Syndrome (C563129) |
Sister Nodes: | ..Aarskog Syndrome (C535331) 1
| ..Abruzzo Erickson syndrome (C535559)
| ..Achromatopsia incomplete, X-linked (C538165)
| ..Adrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
| ..Agammaglobulinemia, X-linked, type 2 (C538057)
| ..Aicardi Syndrome (D058540) 1
| ..Aland Island Eye Disease (C562664)
| ..Alpha-Thalassemia Myelodysplasia Syndrome (C563023)
| ..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
| ..Alzheimer Disease 16 (C567463)
| ..Androgen-Insensitivity Syndrome (D013734) 2
| ..Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (C567533)
| ..Anemia, sideroblastic spinocerebellar ataxia (C536358)
| ..Anemia, X-Linked, without Thrombocytopenia (C564429)
| ..Anencephaly and spina bifida X-linked (C536359)
| ..Aneurysm, Intracranial Berry, 5 (C563670)
| ..Angioma serpiginosum, X-linked (C536366)
| ..Arthrogryposis multiplex congenita, distal, X-linked (C535380)
| ..Arthrogryposis, X-Linked, Type V (C564574)
| ..Arts syndrome (C535388)
| ..Atypical Mycobacteriosis, Familial, X-Linked 1 (C567070)
| ..Atypical Mycobacteriosis, Familial, X-Linked 2 (C567068)
| ..Barth Syndrome (D056889) 2
| ..Bornholm Eye Disease (C564092)
| ..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
| ..Branchial arch syndrome X-linked (C537102)
| ..Brunner Syndrome (C563156)
| ..Bruton type agammaglobulinemia (C537409)
| ..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
| ..Bullous Dystrophy, Hereditary Macular Type (C563065)
| ..Cantu syndrome (C535572)
| ..Cardiac valvular dysplasia, X-linked (C535576)
| ..Cardiomyopathy, Dilated, 3A (C564721)
| ..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
| ..Chondrodysplasia punctata 2, X-linked dominant (C538416)
| ..Chondrodysplasia punctata, brachytelephalangic (C535941)
| ..Choroideremia (D015794) 2
| ..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
| ..Chromosome Xq28 Duplication Syndrome (C567580)
| ..Cleft Palate with Ankyloglossia (C564442)
| ..Cleft palate X-linked (C536426)
| ..Cone Dystrophy, X-Linked, 1 (C564439)
| ..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
| ..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
| ..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
| ..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
| ..Congenital alopecia X-linked (C535981)
| ..Congenital Heart Defects, X-Linked (C567444)
| ..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
| ..Congenital idiopathic intestinal pseudoobstruction (C535532)
| ..Corpus Callosum, Partial Agenesis of, X-Linked (C564115)
| ..Craniofacioskeletal Syndrome (C567471)
| ..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
| ..Deafness, X-Linked 1 (C564433)
| ..Deafness, X-Linked 3 (C564727)
| ..Deafness, X-Linked 4 (C564723)
| ..Deafness, X-Linked 5 (C564472)
| ..Dent Disease (D057973) 1
| ..Dent disease 1 (C538212)
| ..Dent Disease 2 (C564487)
| ..Dyggve-Melchior-Clausen syndrome (C535726)
| ..Dyserythropoietic Anemia with Thrombocytopenia (C564525)
| ..Dyskeratosis Congenita (D019871) 3
| ..Dystonia 3, Torsion, X-Linked (C564048)
| ..Ectodermal Dysplasia 1, Anhidrotic (D053358) 1
| ..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
| ..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
| ..Ehlers-Danlos syndrome type 5 (C536197)
| ..Epidermodysplasia Verruciformis, X-Linked (C564430)
| ..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
| ..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
| ..Episodic Muscle Weakness, X-Linked (C564565)
| ..Exudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
| ..Fabry Disease (D000795) 2
| ..Fetal akinesia syndrome, X-linked (C537921)
| ..Fg Syndrome 5 (C564480)
| ..Focal Dermal Hypoplasia (D005489) 1
| ..Glycogen Storage Disease Type IIb (D052120)
| ..Glycogen Storage Disease Type VIII (D006015)
| ..Glycogen Storage Disease, Type IXA2 (C567579)
| ..Glycogen Storage Disease, Type IXD (C564485)
| ..Granulomatous Disease, Chronic (D006105) 7
| ..Hemophilia B (D002836)
| ..Heterotaxy, visceral, X-linked (C538116)
| ..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
| ..Heterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
| ..Hodgkin disease, X-linked pseudoautosomal (C538326)
| ..Hydrocephalus With Cerebellar Agenesis (C564407)
| ..Hydrocephalus, X-linked (C536078)
| ..Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
| ..Hyper-IgM Immunodeficiency Syndrome, Type 1 (D053307) 1
| ..Hyperekplexia and Epilepsy (C564474)
| ..Hypertrichosis congenital generalized X-linked (C538388)
| ..Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149)
| ..Hypogammaglobulinemia, X-Linked (C562478)
| ..Hypoparathyroidism, X-Linked (C562782)
| ..Hypospadias 1, X-Linked (C567482)
| ..Hypospadias 2, X-Linked (C567462)
| ..Ichthyosis, X-Linked (D016114) 2
| ..Ichthyosis, X-Linked, Complicated (C567443)
| ..Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (C580192)
| ..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
| ..Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (C562780)
| ..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
| ..Joubert Syndrome 10 (C567582)
| ..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
| ..Leigh Syndrome, X-Linked (C564114)
| ..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
| ..Liver Glycogenosis, X-Linked, Type II (C564421)
| ..Lymphoproliferative Syndrome, X-Linked, 2 (C564469)
| ..Macrothrombocytopenia, X-Linked (C564526)
| ..Macular Dystrophy, X-Linked (C564110)
| ..Major Affective Disorder 2 (C564108)
| ..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
| ..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
| ..Megalocornea (C562829)
| ..Membranoproliferative Glomerulonephritis, X-Linked (C564423)
| ..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
| ..Mental Retardation, X-Linked (D038901) 134
| ..Mental Retardation, X-Linked, Syndromic 12 (C564106)
| ..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
| ..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
| ..Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
| ..Mental Retardation, X-Linked, With Panhypopituitarism (C567485)
| ..Mental Retardation, X-Linked, Znf711-Related (C567583)
| ..Microcephaly microcornea syndrome Seemanova type (C537539)
| ..Microphthalmia, Isolated, with Coloboma 1 (C564531)
| ..Microphthalmia, syndromic 7 (C537466)
| ..Midline Defects, X-Linked (C564054)
| ..Mitral valve prolapse, familial, X-linked (C537478)
| ..Modifier, X-Linked, for Neurofunctional Defects (C564098)
| ..Multiple Pterygium Syndrome, X-Linked (C564072)
| ..Muscular Dystrophy, Duchenne (D020388) 1
| ..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
| ..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
| ..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
| ..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
| ..Myopathy, X-Linked, with Excessive Autophagy (C564093)
| ..Myopia 1 (C564091)
| ..Myopia 13 (C564473)
| ..Nance-Horan syndrome (C538336)
| ..Nasodigitoacoustic syndrome (C538337)
| ..NEMO mutation with immunodeficiency (C538399)
| ..Nephrogenic Syndrome of Inappropriate Antidiuresis (C564491)
| ..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
| ..Neural tube defects X-linked (C536410)
| ..Neuropathy, Hereditary Sensory, X-Linked (C564090)
| ..Neutropenia, Severe Congenital, X-Linked (C564539)
| ..Night blindness, congenital stationary (C536122) 4
| ..Nystagmus 5, Infantile Periodic Alternating (C564478)
| ..Oculocerebrorenal Syndrome (D009800) 1
| ..Ophthalmoplegia, External, and Myopia (C564087)
| ..Opitz GBBB Syndrome, X-Linked (C567932)
| ..Optic atrophy, X-linked (C537125)
| ..Ornithine Carbamoyltransferase Deficiency Disease (D020163) 1
| ..Ovarian Dysgenesis 2 (C564499)
| ..Panhypopituitarism X-linked (C538613)
| ..Parathyroid Glands, Agenesis Of (C563238)
| ..Parkinson Disease 12 (C564486)
| ..Parkinsonism, early onset with mental retardation (C537179)
| ..Pelizaeus-Merzbacher Disease (D020371) 1
| ..Phosphoglycerate Kinase 1 Deficiency (C567067)
| ..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
| ..Premature Ovarian Failure 2a (C564498)
| ..Progressive hearing loss stapes fixation (C536424)
| ..Properdin Deficiency, Type II (C564075)
| ..Properdin Deficiency, Type III (C564076)
| ..Properdin deficiency, X-linked (C537241)
| ..PROSTATE CANCER, HEREDITARY, X-LINKED 1 (OMIM:300147)
| ..Prostate Cancer, Hereditary, X-Linked 2 (C567477)
| ..Protoporphyria, Erythropoietic, X-Linked Dominant (C567464)
| ..Proud Syndrome (C563110)
| ..Ptosis, Hereditary Congenital 2 (C564553)
| ..Radial Ray Deficiency, X-Linked (C564523)
| ..Radiation Sensitivity of Natural Killer Activity (C564066)
| ..Radius absent anogenital anomalies (C535281)
| ..Reticuloendotheliosis, X-linked (C538362)
| ..Retinitis Pigmentosa 3 (C564520)
| ..Retinitis Pigmentosa 34 (C564475)
| ..Retinitis Pigmentosa 6 (C564065)
| ..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
| ..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
| ..Russell-Silver Syndrome, X-Linked (C562446)
| ..Short Stature, Idiopathic, X-Linked (C564479)
| ..Simpson-Golabi-Behmel syndrome (C537340)
| ..Simpson-Golabi-Behmel Syndrome, Type 2 (C564567)
| ..Sketetal dysplasia coarse facies mental retardation (C536671)
| ..Spastic paraplegia 16, X-linked (C536643)
| ..Spastic paraplegia 2, X-linked (C536857)
| ..Spastic Paraplegia 34, X-Linked (C567465)
| ..Spina Bifida, X-Linked (C564459)
| ..Spinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
| ..Spinocerebellar Ataxia, X-Linked 1 (C563134)
| ..Spinocerebellar Ataxia, X-Linked 5 (C567478)
| ..Spinocerebellar ataxia, X-linked, 3 (C537315)
| ..Split-Hand Foot Malformation 2 (C564056) 1
| ..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
| ..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447)
| ..Spondylometaphyseal Dysplasia, X-Linked (C563124)
| ..Surfactant Metabolism Dysfunction, Pulmonary, 4 (C567461)
| ..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
| ..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
| ..Testicular Germ Cell Tumor 1 (C564559)
| ..Thrombocytopenia 1 (C564052)
| ..Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
| ..Thrombocytopenia, X-Linked, Intermittent (C564053)
| ..Thrombocytosis, Familial X-Linked (C564532)
| ..Thrombophilia, X-Linked, Due To Factor Ix Defect (C567581)
| ..Thyroxine-Binding Globulin Deficiency (C564049)
| ..Tooth Agenesis, Selective, X-Linked, 1 (C567060)
| ..Torticollis keloids cryptorchidism renal dysplasia (C536970)
| ..VACTERL Association With Hydrocephalus (C564751)
| ..VACTERL association with hydrocephaly, X-linked (C536520)
| ..Vasquez Hurst Sotos syndrome (C536533)
| ..Vesicoureteral Reflux, X-Linked (C564042)
| ..Von Willebrand Disease, X-Linked Form (C564041)
| ..Wells Jankovic syndrome (C536692)
| ..Wieacker syndrome (C536703)
| ..Wiskott-Aldrich Syndrome (D014923) 1
| ..X Inactivation, Familial Skewed, 1 (C564716)
| ..X Inactivation, Familial Skewed, 2 (C564572)
| ..X-linked adrenal hypoplasia congenita (C536757)
| ..X-Linked Chondrodysplasia Punctata 1 (C580533)
| ..X-Linked Combined Immunodeficiency Diseases (D053632) 1
| ..X-Linked Infantile Nystagmus (C580539)
| ..X-linked sideroblastic anemia (C536761)
| ..X-linked tetra-amelia (C536497)
|
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
|
|
|
Term ID: | 2168 |
Name: | Choroideremia |
Definition: | An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. |
Alternative IDs: | OMIM:303100 |
ParentIDs: | MESH:D015785|MESH:D015862|MESH:D040181 |
TreeNumbers: | C11.270.142 |C11.941.160.300 |C16.320.290.142 |C16.320.322.092 |
Synonyms: | CHM |Choroideremias |Dystrophies, Progressive Tapetochoroidal |Dystrophy, Progressive Tapetochoroidal |Progressive Tapetochoroidal Dystrophies |Progressive Tapetochoroidal Dystrophy |Tapetochoroidal Dystrophies, Progressive |Tapetochoroidal Dystrophy, Progressi |
Slim Mappings: | Eye disease|Genetic disease (inborn) |
Reference: |
MedGen: D015794
MeSH: D015794
OMIM: 303100;
Genes: CHM; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000390.3(CHM):c.1609+2dupT | 1121 | CHM | Pathogenic | 386833676 | RCV000049636; | N | MedGen:C0008525,OMIM:303100,ORPHA:180,SNOMED CT:75241009 | X | 85133968 | 85133968 | NM_000390.3:c.1609+2dupT | | NC_000023.10:g.85133968dupA | - | C0008525 303100 Choroideremia | | | NM_000390.3(CHM):c.1584_1587delTGTT (p.Val529Hisfs) | 1121 | CHM | Pathogenic | 587776746 | RCV000011902; | N | MedGen:C0008525,OMIM:303100,ORPHA:180,SNOMED CT:75241009 | X | 85133992 | 85133995 | NM_000390.3:c.1584_1587delTGTT | NP_000381.1:p.Val529Hisfs | NC_000023.10:g.85133992_85133995delAACA | OMIM Allelic Variant:300390.0006 | C0008525 303100 Choroideremia | | | NM_000390.3(CHM):c.1520A>G (p.His507Arg) | 1121 | CHM | Pathogenic | 397514603 | RCV000033030; | N | MedGen:C0008525,OMIM:303100,ORPHA:180,SNOMED CT:75241009 | X | 85134059 | 85134059 | NM_000390.3:c.1520A>G | NP_000381.1:p.His507Arg | NC_000023.10:g.85134059T>C | OMIM Allelic Variant:300390.0011 | C0008525 303100 Choroideremia | | | NM_000390.3(CHM):c.1497C>A (p.Cys499Ter) | 1121 | CHM | Pathogenic | 132630267 | RCV000011903; | N | MedGen:C0008525,OMIM:303100,ORPHA:180,SNOMED CT:75241009 | X | 85149206 | 85149206 | NM_000390.3:c.1497C>A | NP_000381.1:p.Cys499Ter | NC_000023.10:g.85149206G>T | OMIM Allelic Variant:300390.0007,OMIM Allelic Variant:300390.0009 | C0008525 303100 Choroideremia | | | NM_000390.3(CHM):c.1484C>A (p.Ser495Ter) | 1121 | CHM | Pathogenic | 132630264 | RCV000011899; | N | MedGen:C0008525,OMIM:303100,ORPHA:180,SNOMED CT:75241009 | X | 85149219 | 85149219 | NM_000390.3:c.1484C>A | NP_000381.1:p.Ser495Ter | NC_000023.10:g.85149219G>T | OMIM Allelic Variant:300390.0003 | C0008525 303100 Choroideremia | | | NM_000390.3(CHM):c.1471G>T (p.Glu491Ter) | 1121 | CHM | Pathogenic | 132630265 | RCV000011900; | N | MedGen:C0008525,OMIM:303100,ORPHA:180,SNOMED CT:75241009 | X | 85149232 | 85149232 | NM_000390.3:c.1471G>T | NP_000381.1:p.Glu491Ter | NC_000023.10:g.85149232C>A | OMIM Allelic Variant:300390.0004 | C0008525 303100 Choroideremia | | | NM_000390.3(CHM):c.1358_1359delCCinsGA (p.Ser453Ter) | 1121 | CHM | Pathogenic | 132630263 | RCV000011898; | N | MedGen:C0008525,OMIM:303100,ORPHA:180,SNOMED CT:75241009 | X | 85155705 | 85155706 | NM_000390.3:c.1358_1359delCCinsGA | NP_000381.1:p.Ser453Ter | NC_000023.10:g.85155705_85155706delGGinsTC | OMIM Allelic Variant:300390.0002 | C0008525 303100 Choroideremia | | | NM_000390.3(CHM):c.877C>T (p.Arg293Ter) | 1121 | CHM | Pathogenic | 132630266 | RCV000011904; RCV000078687; | N | MedGen:C0008525,OMIM:303100,ORPHA:180,SNOMED CT:75241009; MedGen:CN221809 | X | 85212923 | 85212923 | NM_000390.3:c.877C>T | NP_000381.1:p.Arg293Ter | | HGMD:CM940281,OMIM Allelic Variant:300390.0008 | C0008525 303100 Choroideremia; CN221809 not provided | | | NM_000390.3(CHM):c.808C>T (p.Arg270Ter) | 1121 | CHM | Pathogenic | 527236048 | RCV000132595; | N | MedGen:C0008525,OMIM:303100,ORPHA:180,SNOMED CT:75241009 | X | 85213877 | 85213877 | NM_000390.3:c.808C>T | NP_000381.1:p.Arg270Ter | NC_000023.10:g.85213877G>A | - | C0008525 303100 Choroideremia | | | NM_000390.3(CHM):c.116+1G>A | 1121 | CHM | Likely pathogenic | 786204761 | RCV000169622; | N | MedGen:C0008525,OMIM:303100,ORPHA:180,SNOMED CT:75241009 | X | 85282494 | 85282494 | NM_000390.3:c.116+1G>A | | NC_000023.10:g.85282494C>T | - | C0008525 303100 Choroideremia | | |
|
|