Disease Browser
|
Parent Node: Mental Retardation, X-Linked (D038901) | ..Starting node ..Mental Retardation, X-Linked 3 (C563136)
| 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: | 7022 |
Name: | Mental Retardation, X-Linked 3 |
Definition: | |
Alternative IDs: | OMIM:309541 |
ParentIDs: | MESH:D038901 |
TreeNumbers: | C10.597.606.643.455/C563136 |C16.320.322.500/C563136 |C16.320.400.525/C563136 |
Synonyms: | MENTAL RETARDATION, X-LINKED 3 |METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE |MRX3 |
Slim Mappings: | Genetic disease (inborn)|Nervous system disease |
Reference: |
MedGen: C563136
MeSH: C563136
OMIM: 309541;
Genes: HCFC1; | 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_005334.2(HCFC1):c.5048C>G (p.Pro1683Arg) | 3054 | HCFC1 | Pathogenic | 869312686 | RCV000209921; | N | MedGen:C0796208,OMIM:309541,ORPHA:369962 | X | 153217504 | 153217504 | NM_005334.2:c.5048C>G | NP_005325.2:p.Pro1683Arg | NC_000023.10:g.153217504G>C | - | C0796208 309541 Mental retardation 3, X-linked | | | NM_005334.2(HCFC1):c.674G>A (p.Ser225Asn) | 3054 | HCFC1 | Pathogenic | 318240758 | RCV000032897; RCV000059786; | N | MedGen:C0796208,OMIM:309541,ORPHA:369962; MedGen:CN221809 | X | 153228714 | 153228714 | NM_005334.2:c.674G>A | NP_005325.2:p.Ser225Asn | NC_000023.10:g.153228714C>T | OMIM Allelic Variant:300019.0002,UniProtKB (variants):VAR_069098 | C0796208 309541 Mental retardation 3, X-linked; CN221809 not provided | | | NM_005334.2(HCFC1):c.344C>T (p.Ala115Val) | 3054 | HCFC1 | Pathogenic | 397515485 | RCV000057506; | N | MedGen:C0796208,OMIM:309541,ORPHA:369962 | X | 153229734 | 153229734 | NM_005334.2:c.344C>T | NP_005325.2:p.Ala115Val | NC_000023.10:g.153229734G>A | OMIM Allelic Variant:300019.0003 | C0796208 309541 Mental retardation 3, X-linked | | | NM_005334.2(HCFC1):c.218C>T (p.Ala73Val) | 3054 | HCFC1 | Pathogenic | 397515486 | RCV000057507; | N | MedGen:C0796208,OMIM:309541,ORPHA:369962 | X | 153230153 | 153230153 | NM_005334.2:c.218C>T | NP_005325.2:p.Ala73Val | NC_000023.10:g.153230153G>A | OMIM Allelic Variant:300019.0004 | C0796208 309541 Mental retardation 3, X-linked | | | NM_005334.2(HCFC1):c.217G>A (p.Ala73Thr) | 3054 | HCFC1 | Pathogenic | 397515487 | RCV000057508; | N | MedGen:C0796208,OMIM:309541,ORPHA:369962 | X | 153230154 | 153230154 | NM_005334.2:c.217G>A | NP_005325.2:p.Ala73Thr | NC_000023.10:g.153230154C>T | OMIM Allelic Variant:300019.0005 | C0796208 309541 Mental retardation 3, X-linked | | | NM_005334.2(HCFC1):c.-970T>C | 3054 | HCFC1 | Pathogenic | 398122908 | RCV000032896; | N | MedGen:C0796208,OMIM:309541,ORPHA:369962 | X | 153237261 | 153237261 | NM_005334.2:c.-970T>C | | NC_000023.10:g.153237261A>G | OMIM Allelic Variant:300019.0001 | C0796208 309541 Mental retardation 3, X-linked | | |
|
|