MRXSCS
MCID: MNT201
MIFTS: 17

Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type (MRXSCS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type:

Name: Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 57 12 13 70
Mrxscs 57 12
Mental Retardation, X-Linked, with Seizures, Hypogammaglobulinemia, and Gait Disturbance 57
X-Linked Mental Retardation with Seizures, Hypogammaglobinemia, and Gait Disturbance 12
Syndromic X-Linked Intellectual Disability Chudley-Schwartz Type 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
one family with 3 affected males has been reported (as of october 2011)


HPO:

31
mental retardation, x-linked, syndromic, chudley-schwartz type:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type, is also known as mrxscs, and has symptoms including seizures and ataxia. An important gene associated with Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type is MRXSCS (Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type). Related phenotypes are peripheral neuropathy and cerebellar atrophy

More information from OMIM: 300861 PS309510

Related Diseases for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 peripheral neuropathy 31 occasional (7.5%) HP:0009830
2 cerebellar atrophy 31 occasional (7.5%) HP:0001272
3 scoliosis 31 HP:0002650
4 ataxia 31 HP:0001251
5 kyphosis 31 HP:0002808
6 global developmental delay 31 HP:0001263
7 hypertelorism 31 HP:0000316
8 mandibular prognathia 31 HP:0000303
9 protruding ear 31 HP:0000411
10 intellectual disability, moderate 31 HP:0002342
11 synophrys 31 HP:0000664
12 single transverse palmar crease 31 HP:0000954
13 hirsutism 31 HP:0001007
14 unsteady gait 31 HP:0002317
15 decreased circulating iga level 31 HP:0002720
16 decreased circulating igg level 31 HP:0004315
17 decreased circulating total igm 31 HP:0002850
18 poor speech 31 HP:0002465
19 prominent glabella 31 HP:0002057
20 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
ataxia
unsteady gait
poor speech
delayed psychomotor development
more
Head And Neck Eyes:
hypertelorism
synophrys

Head And Neck Face:
prominent glabella
prognathism

Skeletal Hands:
single palmar creases

Neurologic Peripheral Nervous System:
peripheral neuropathy (1 patient)

Skeletal Spine:
scoliosis
kyphosis

Skin Nails Hair Hair:
hirsutism

Head And Neck Ears:
prominent ears

Immunology:
decreased igg
decreased igm
decreased iga, plasma and secretory

Clinical features from OMIM®:

300861 (Updated 05-Apr-2021)

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type:


seizures; ataxia

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

Publications for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

Articles related to Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type:

# Title Authors PMID Year
1
X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23. 57
10398239 1999

Variations for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

Expression for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type.

Pathways for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

Sources for Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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