Disease Browser
|
Parent Node: Deafness (D003638) | Parent Node: Growth Disorders (D006130) | Parent Node: Hypogonadism (D007006) | Parent Node: Mental Retardation, X-Linked (D038901) | ..Starting node ..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
| Child Nodes:
|
Sister Nodes: | ..Abidi X-linked mental retardation syndrome (C535556)
| ..Adrenoleukodystrophy (D000326) 4
| ..Aldred syndrome (C537046)
| ..Allan-Herndon-Dudley syndrome (C537047)
| ..Arena syndrome (C537428)
| ..Armfield X-Linked Mental Retardation Syndrome (C564551)
| ..Atkin syndrome (C538195)
| ..ATR-X syndrome (C538258)
| ..Borjeson-Forssman-Lehmann syndrome (C536575)
| ..Brooks-Wisniewski-Brown Syndrome (C563154)
| ..Chromosome Xp11.3 Deletion Syndrome (C564481)
| ..CK SYNDROME (OMIM:300831)
| ..Clark-Baraitser syndrome (C536208)
| ..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
| ..Coffin-Lowry Syndrome (D038921)
| ..Cowchock syndrome (C536450)
| ..Creatine deficiency, X-linked (C535598)
| ..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
| ..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
| ..Fragile X Syndrome (D005600) 3
| ..Glycogen Storage Disease Type IIb (D052120)
| ..Lesch-Nyhan Syndrome (D007926) 1
| ..Lubs X-linked mental retardation syndrome (C537723)
| ..Lujan Fryns syndrome (C537724)
| ..MEHMO syndrome (C537451)
| ..Menkes Kinky Hair Syndrome (D007706) 1
| ..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
| ..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
| ..Mental retardation X-linked syndromic 7 (C537449)
| ..Mental retardation X-linked, South African type (C537450)
| ..Mental Retardation, X-Linked 1 (C567906)
| ..Mental retardation, X-linked 14 (C537454)
| ..Mental Retardation, X-Linked 16 (C563139)
| ..Mental Retardation, X-Linked 17 (C563140)
| ..Mental Retardation, X-Linked 19 (C563141)
| ..Mental Retardation, X-Linked 2 (C563135)
| ..Mental Retardation, X-Linked 20 (C563142)
| ..MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
| ..Mental Retardation, X-Linked 23 (C563144)
| ..Mental Retardation, X-Linked 3 (C563136)
| ..Mental Retardation, X-Linked 30 (C563146)
| ..Mental Retardation, X-Linked 31 (C563147)
| ..Mental Retardation, X-Linked 34 (C563148)
| ..Mental Retardation, X-Linked 42 (C564524)
| ..Mental Retardation, X-Linked 45 (C564503)
| ..Mental Retardation, X-Linked 46 (C564513)
| ..Mental Retardation, X-Linked 47 (C563151)
| ..MENTAL RETARDATION, X-LINKED 49 (OMIM:300114)
| ..Mental Retardation, X-Linked 50 (C564713)
| ..Mental Retardation, X-Linked 52 (C564502)
| ..Mental Retardation, X-Linked 53 (C564533)
| ..Mental Retardation, X-Linked 58 (C564566)
| ..Mental Retardation, X-Linked 59 (C564470)
| ..Mental Retardation, X-Linked 63 (C564522)
| ..Mental Retardation, X-Linked 72 (C564547)
| ..Mental Retardation, X-Linked 73 (C564528)
| ..Mental Retardation, X-Linked 77 (C564511)
| ..Mental Retardation, X-Linked 78 (C564489)
| ..Mental Retardation, X-Linked 79 (C566876)
| ..Mental Retardation, X-Linked 81 (C564515)
| ..Mental Retardation, X-Linked 82 (C564496)
| ..Mental Retardation, X-Linked 84 (C564501)
| ..Mental Retardation, X-Linked 89 (C564036)
| ..Mental Retardation, X-Linked 9 (C563137)
| ..Mental Retardation, X-Linked 91 (C564482)
| ..Mental Retardation, X-Linked 92 (C564483)
| ..Mental Retardation, X-Linked 93 (C567066)
| ..Mental Retardation, X-Linked 94 (C567479)
| ..Mental Retardation, X-Linked 95 (C567470)
| ..MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
| ..Mental Retardation, X-Linked Nonsyndromic (C564490)
| ..Mental Retardation, X-Linked, Syndromic 10 (C564560)
| ..Mental Retardation, X-Linked, Syndromic 13 (C566875)
| ..Mental Retardation, X-Linked, Syndromic 14 (C567063)
| ..Mental retardation, X-linked, syndromic 5 (C535773)
| ..Mental Retardation, X-Linked, Syndromic 9 (C567474)
| ..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
| ..MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
| ..Mental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
| ..Mental Retardation, X-Linked, Syp-Related (C567584)
| ..Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
| ..Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
| ..Mental Retardation, X-Linked, with Epilepsy (C564516)
| ..Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
| ..Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
| ..Mental Retardation, X-Linked, with Short Stature (C564527)
| ..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
| ..Mental Retardation, X-Linked, With Spasticity (C566877)
| ..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
| ..Microphthalmia, Syndromic 4 (C564457)
| ..Miles-Carpenter x-linked mental retardation syndrome (C537472)
| ..Mucopolysaccharidosis II (D016532)
| ..Opitz-Kaveggia syndrome (C537923)
| ..Orofaciodigital syndrome, Shashi type (C537135)
| ..Partington X-linked mental retardation syndrome (C536300)
| ..Plagiocephaly and X-linked mental retardation (C537512)
| ..Ppm-X Syndrome (C580387)
| ..Prieto X-linked mental retardation syndrome (C535274)
| ..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
| ..Renpenning syndrome 1 (C537761)
| ..Rett Syndrome (D015518) 5
| ..Roifman syndrome (C535866)
| ..Schimke X-linked mental retardation syndrome (C536630)
| ..Siderius X-linked mental retardation syndrome (C537333)
| ..Snyder Robinson syndrome (C536678)
| ..Stocco dos Santos syndrome (C537495)
| ..Tranebjaerg Svejgaard syndrome (C536978)
| ..Wilson-Turner X-linked mental retardation syndrome (C536708)
| ..Wittwer syndrome (C536737)
| ..X-linked mental retardation Gustavson type (C536759)
| ..X-linked mental retardation type Wittwer (C536760)
|
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
|
|
|
Term ID: | 6994 |
Name: | Mental retardation-hypotonic facies syndrome, x-linked, 1 |
Definition: | |
Alternative IDs: | OMIM:309580 |
ParentIDs: | MESH:D003638|MESH:D006130|MESH:D007006|MESH:D038901 |
TreeNumbers: | C09.218.458.341.186/C537457 |C10.597.606.643.455/C537457 |C10.597.751.418.341.186/C537457 |C16.320.322.500/C537457 |C16.320.400.525/C537457 |C19.391.482/C537457 |C23.550.393/C537457 |C23.888.592.763.393.341.186/C537457 |
Synonyms: | Carpenter-Waziri syndrome |Chudley Lowry Hoar syndrome |Chudley-Lowry Syndrome |Chudley mental retardation syndrome |Chudley syndrome 1 |Holmes-Gang syndrome |JMS |Juberg-Marsidi Mental Retardation Syndrome |Juberg Marsidi syndrome |Juberg-Marsidi syndrome |Mental |
Slim Mappings: | Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)|Signs and symptoms |
Reference: |
MedGen: C537457
MeSH: C537457
OMIM: 309580;
Genes: ATRX; | 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_000489.4(ATRX):c.6392G>A (p.Arg2131Gln) | 546 | ATRX | Pathogenic | 122445101 | RCV000012497; RCV000199096; | N | MedGen:C0796003,OMIM:309580,ORPHA:93972; MedGen:C1845055,OMIM:301040,ORPHA:847; MedGen:C4016452 | X | 76814252 | 76814252 | NM_000489.4:c.6392G>A | NP_000480.3:p.Arg2131Gln | NC_000023.10:g.76814252C>T | OMIM Allelic Variant:300032.0011 | C1845055 301040 ATR-X syndrome; C0796003 309580 Mental retardation-hypotonic facies syndrome X-linked, 1; C4016452 Mental retardation-hypotonic facies syndrome, X-linked | | | NM_000489.4(ATRX):c.1423C>T (p.His475Tyr) | 546 | ATRX | Uncertain significance | 146863015 | RCV000209924; | N | MedGen:C0796003,OMIM:309580,ORPHA:93972 | X | 76939325 | 76939325 | NM_000489.4:c.1423C>T | NP_000480.3:p.His475Tyr | | - | C0796003 309580 Mental retardation-hypotonic facies syndrome X-linked, 1 | | | NM_000489.4(ATRX):c.568C>G (p.Pro190Ala) | 546 | ATRX | Likely pathogenic;Pathogenic | 122445103 | RCV000012500; RCV000197579; | N | MedGen:C0796003,OMIM:309580,ORPHA:93972; MedGen:C1845055,OMIM:301040,ORPHA:847 | X | 76944337 | 76944337 | NM_000489.4:c.568C>G | NP_000480.3:p.Pro190Ala | NC_000023.10:g.76944337G>C | OMIM Allelic Variant:300032.0014 | C1845055 301040 ATR-X syndrome; C0796003 309580 Mental retardation-hypotonic facies syndrome X-linked, 1 | | |
|
|