MCID: SCH022
MIFTS: 16

Schimke X-Linked Mental Retardation Syndrome

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Schimke X-Linked Mental Retardation Syndrome

MalaCards integrated aliases for Schimke X-Linked Mental Retardation Syndrome:

Name: Schimke X-Linked Mental Retardation Syndrome 56 71
Choreoathetosis with Mental Retardation, X-Linked 56
X-Linked Intellectual Disability, Schimke Type 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, schimke type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
x-linked


HPO:

31
schimke x-linked mental retardation syndrome:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 312840
MESH via Orphanet 44 C536630
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1839320
Orphanet 58 ORPHA85285
MedGen 41 C1839320
UMLS 71 C1839320

Summaries for Schimke X-Linked Mental Retardation Syndrome

MalaCards based summary : Schimke X-Linked Mental Retardation Syndrome, also known as choreoathetosis with mental retardation, x-linked, is related to x-linked intellectual disability, schimke type, and has symptoms including ophthalmoplegia Affiliated tissues include eye, and related phenotypes are hearing impairment and intellectual disability

More information from OMIM: 312840

Related Diseases for Schimke X-Linked Mental Retardation Syndrome

Diseases related to Schimke X-Linked Mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 x-linked intellectual disability, schimke type 11.6

Symptoms & Phenotypes for Schimke X-Linked Mental Retardation Syndrome

Human phenotypes related to Schimke X-Linked Mental Retardation Syndrome:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 Frequent (79-30%) HP:0000365
2 intellectual disability 58 31 Frequent (79-30%) HP:0001249
3 spasticity 58 31 Frequent (79-30%) HP:0001257
4 external ophthalmoplegia 58 31 Frequent (79-30%) HP:0000544
5 choreoathetosis 58 31 Frequent (79-30%) HP:0001266
6 postnatal microcephaly 58 31 Frequent (79-30%) HP:0005484
7 global developmental delay 58 Frequent (79-30%)
8 dyskinesia 58 Frequent (79-30%)
9 short stature 58 Frequent (79-30%)
10 absent speech 58 Frequent (79-30%)
11 hyperreflexia 58 Occasional (29-5%)
12 growth delay 31 HP:0001510
13 high palate 58 Occasional (29-5%)
14 failure to thrive in infancy 58 Frequent (79-30%)
15 elbow flexion contracture 58 Occasional (29-5%)
16 cerebral cortical atrophy 58 Occasional (29-5%)
17 vesicoureteral reflux 58 Occasional (29-5%)
18 hydronephrosis 58 Occasional (29-5%)
19 deeply set eye 58 Occasional (29-5%)
20 narrow nasal bridge 58 Occasional (29-5%)
21 hip contracture 58 Occasional (29-5%)
22 poor head control 58 Frequent (79-30%)
23 ankle flexion contracture 58 Occasional (29-5%)
24 poor suck 58 Frequent (79-30%)
25 knee flexion contracture 58 Occasional (29-5%)
26 gastrostomy tube feeding in infancy 58 Occasional (29-5%)
27 infantile muscular hypotonia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Neuro:
spasticity
choreoathetosis
mental retardation

Head:
postnatal microcephaly

Ears:
variable deafness

Eyes:
external ophthalmoplegia

Growth:
growth retardation

Clinical features from OMIM:

312840

UMLS symptoms related to Schimke X-Linked Mental Retardation Syndrome:


ophthalmoplegia

Drugs & Therapeutics for Schimke X-Linked Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Schimke X-Linked Mental Retardation Syndrome

Genetic Tests for Schimke X-Linked Mental Retardation Syndrome

Anatomical Context for Schimke X-Linked Mental Retardation Syndrome

MalaCards organs/tissues related to Schimke X-Linked Mental Retardation Syndrome:

40
Eye

Publications for Schimke X-Linked Mental Retardation Syndrome

Articles related to Schimke X-Linked Mental Retardation Syndrome:

# Title Authors PMID Year
1
A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness. 56
6538752 1984

Variations for Schimke X-Linked Mental Retardation Syndrome

Expression for Schimke X-Linked Mental Retardation Syndrome

Search GEO for disease gene expression data for Schimke X-Linked Mental Retardation Syndrome.

Pathways for Schimke X-Linked Mental Retardation Syndrome

GO Terms for Schimke X-Linked Mental Retardation Syndrome

Sources for Schimke X-Linked Mental Retardation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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