MRX100
MCID: MNT223
MIFTS: 20

Mental Retardation, X-Linked 100 (MRX100)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal 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 56 73 29 6 71
Mrx100 56 73
Mental Retardation, X-Linked, Type 100 39

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

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


HPO:

31
mental retardation, x-linked 100:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 56 300923
OMIM Phenotypic Series 56 PS309530
MeSH 43 D038901
UMLS 71 C3890167

Summaries for Mental Retardation, X-Linked 100

UniProtKB/Swiss-Prot : 73 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). Affiliated tissues include testes, and related phenotypes are intellectual disability and abnormal facial shape

More information from OMIM: 300923 PS309530

Symptoms & Phenotypes for Mental Retardation, X-Linked 100

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

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 abnormal facial shape 31 HP:0001999
3 poor speech 31 HP:0002465
4 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
poor speech
mental retardation, mild to moderate

Head And Neck Face:
facial dysmorphism, mild, nonspecific

Clinical features from OMIM:

300923

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

Genetic tests related to Mental Retardation, X-Linked 100:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 100 29 KIF4A

Anatomical Context for Mental Retardation, X-Linked 100

MalaCards organs/tissues related to Mental Retardation, X-Linked 100:

40
Testes

Publications for Mental Retardation, X-Linked 100

Articles related to Mental Retardation, X-Linked 100:

# Title Authors PMID Year
1
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. 56 6
24812067 2014
2
Fragile X and X-linked intellectual disability: four decades of discovery. 6
22482801 2012
3
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. 6
21956720 2011
4
Familial deletion within NLGN4 associated with autism and Tourette syndrome. 6
18231125 2008
5
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. 6
14963808 2004

Variations for Mental Retardation, X-Linked 100

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF4A NM_012310.5(KIF4A):c.1489-8_1490delinsATAATGAAAGindel Pathogenic 140729 rs1555949612 X:69573464-69573473 X:70353614-70353623
2 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)SNV Likely pathogenic 632604 rs1569234334 X:69549270-69549270 X:70329420-70329420
3 KIF4A NM_012310.5(KIF4A):c.1525G>A (p.Asp509Asn)SNV Likely pathogenic 804023 X:69573508-69573508 X:70353658-70353658

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 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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