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 57 72 29 6 70
Mrx100 57 12 72
Non-Syndromic X-Linked Intellectual Disability 100 12
Mental Retardation, X-Linked, Type 100 39
X-Linked Mental Retardation 100 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

Disease Ontology 12 DOID:0112040
OMIM® 57 300923
OMIM Phenotypic Series 57 PS309530
MeSH 44 D038901
UMLS 70 C3890167

Summaries for Mental Retardation, X-Linked 100

UniProtKB/Swiss-Prot : 72 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 abnormal facial shape

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has material basis in hemizygous mutation in KIF4A on chromosome Xq13.1.

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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

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. 57 6
24812067 2014

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 Position
1 KIF4A NM_012310.5(KIF4A):c.1489-8_1490delinsATAATGAAAG Indel Pathogenic 140729 rs1555949612 GRCh37: X:69573464-69573473
GRCh38: X:70353614-70353623
2 KIF4A NM_012310.5(KIF4A):c.1525G>A (p.Asp509Asn) SNV Likely pathogenic 804023 rs1344933833 GRCh37: X:69573508-69573508
GRCh38: X:70353658-70353658
3 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) SNV Likely pathogenic 632604 rs1569234334 GRCh37: X:69549270-69549270
GRCh38: X:70329420-70329420
4 KIF4A NM_012310.5(KIF4A):c.1123G>A (p.Gly375Arg) SNV Uncertain significance 1029186 GRCh37: X:69553529-69553529
GRCh38: X:70333679-70333679
5 KIF4A NM_012310.5(KIF4A):c.2113G>A (p.Glu705Lys) SNV Uncertain significance 1030246 GRCh37: X:69606546-69606546
GRCh38: X:70386696-70386696
6 KIF4A NM_012310.5(KIF4A):c.2734A>G (p.Ile912Val) SNV Uncertain significance 1030247 GRCh37: X:69623828-69623828
GRCh38: X:70403978-70403978

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
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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