MCID: MNT223
MIFTS: 17

Mental Retardation, X-Linked 100

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked 100

MalaCards integrated aliases for Mental Retardation, X-Linked 100:

Name: Mental Retardation, X-Linked 100 57 75 6 73
Mrx100 57 75
Mental Retardation, X-Linked, Type 100 40

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
one family has been reported (last curated july 2014)


HPO:

32
mental retardation, x-linked 100:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 100

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 100: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX100 clinical features include intellectual disability, epilepsy, microcephaly and cortical malformations.

MalaCards based summary : Mental Retardation, X-Linked 100, is also known as mrx100, and has symptoms including seizures An important gene associated with Mental Retardation, X-Linked 100 is KIF4A (Kinesin Family Member 4A). Related phenotypes are intellectual disability and seizures

Description from OMIM: 300923

Symptoms & Phenotypes for Mental Retardation, X-Linked 100

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
facial dysmorphism, mild, nonspecific

Neurologic Central Nervous System:
mental retardation, mild to moderate
poor speech
seizures


Clinical features from OMIM:

300923

Human phenotypes related to Mental Retardation, X-Linked 100:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 abnormal facial shape 32 HP:0001999
4 poor speech 32 HP:0002465

UMLS symptoms related to Mental Retardation, X-Linked 100:


seizures

Drugs & Therapeutics for Mental Retardation, X-Linked 100

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 100

Genetic Tests for Mental Retardation, X-Linked 100

Anatomical Context for Mental Retardation, X-Linked 100

Publications for Mental Retardation, X-Linked 100

Variations for Mental Retardation, X-Linked 100

ClinVar genetic disease variations for Mental Retardation, X-Linked 100:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF4A NM_012310.4(KIF4A): c.1489-8_1490delinsATAATGAAAG indel Pathogenic GRCh37 Chromosome X, 69573464: 69573473
2 KIF4A NM_012310.4(KIF4A): c.1489-8_1490delinsATAATGAAAG indel Pathogenic GRCh38 Chromosome X, 70353614: 70353623

Expression for Mental Retardation, X-Linked 100

Search GEO for disease gene expression data for Mental Retardation, X-Linked 100.

Pathways for Mental Retardation, X-Linked 100

GO Terms for Mental Retardation, X-Linked 100

Sources for Mental Retardation, X-Linked 100

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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