MCID: MNT201
MIFTS: 19

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

Categories: 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 73
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
Inheritance:
x-linked recessive

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


HPO:

32
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, also known as mrxscs, is related to mental retardation, x-linked, syndromic, cabezas type and syndromic x-linked intellectual disability cabezas type, and has symptoms including ataxia and seizures. 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 mandibular prognathia and hypertelorism

Description from OMIM: 300861

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

Diseases related to Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic, cabezas type 11.1
2 syndromic x-linked intellectual disability cabezas type 10.9

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
synophrys

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Face:
prominent glabella
prognathism

Skeletal Hands:
single palmar creases

Neurologic Peripheral Nervous System:
peripheral neuropathy (1 patient)

Neurologic Central Nervous System:
seizures
ataxia
unsteady gait
poor speech
delayed psychomotor development
more
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

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

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 32 HP:0000303
2 hypertelorism 32 HP:0000316
3 protruding ear 32 HP:0000411
4 synophrys 32 HP:0000664
5 single transverse palmar crease 32 HP:0000954
6 hirsutism 32 HP:0001007
7 seizures 32 HP:0001250
8 ataxia 32 HP:0001251
9 global developmental delay 32 HP:0001263
10 cerebellar atrophy 32 occasional (7.5%) HP:0001272
11 prominent glabella 32 HP:0002057
12 unsteady gait 32 HP:0002317
13 intellectual disability, moderate 32 HP:0002342
14 poor speech 32 HP:0002465
15 scoliosis 32 HP:0002650
16 iga deficiency 32 HP:0002720
17 kyphosis 32 HP:0002808
18 igm deficiency 32 HP:0002850
19 igg deficiency 32 HP:0004315
20 peripheral neuropathy 32 occasional (7.5%) HP:0009830

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


ataxia, seizures

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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