MCID: MNT267
MIFTS: 15

Mental Retardation, X-Linked 104

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

Aliases & Classifications for Mental Retardation, X-Linked 104

MalaCards integrated aliases for Mental Retardation, X-Linked 104:

Name: Mental Retardation, X-Linked 104 57 75 29 6
Mrx104 57 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
one family and 1 unrelated patient have been reported (last curated september 2016)


HPO:

32
mental retardation, x-linked 104:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 104

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 104: A form of mental retardation, 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.

MalaCards based summary : Mental Retardation, X-Linked 104, is also known as mrx104. An important gene associated with Mental Retardation, X-Linked 104 is FRMPD4 (FERM And PDZ Domain Containing 4). Related phenotypes are intellectual disability and seizures

Description from OMIM: 300983

Symptoms & Phenotypes for Mental Retardation, X-Linked 104

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
developmental delay
intellectual disability
poor or absent speech
seizures (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
autistic features


Clinical features from OMIM:

300983

Human phenotypes related to Mental Retardation, X-Linked 104:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250
3 global developmental delay 32 HP:0001263

Drugs & Therapeutics for Mental Retardation, X-Linked 104

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 104

Genetic Tests for Mental Retardation, X-Linked 104

Genetic tests related to Mental Retardation, X-Linked 104:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 104 29 FRMPD4

Anatomical Context for Mental Retardation, X-Linked 104

Publications for Mental Retardation, X-Linked 104

Variations for Mental Retardation, X-Linked 104

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 104:

75
# Symbol AA change Variation ID SNP ID
1 FRMPD4 p.Cys553Arg VAR_077481 rs886038209

ClinVar genetic disease variations for Mental Retardation, X-Linked 104:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FRMPD4 NM_014728.3(FRMPD4): c.1847delC (p.Cys618Valfs) deletion Pathogenic rs886038208 GRCh37 Chromosome X, 12734425: 12734425
2 FRMPD4 NM_014728.3(FRMPD4): c.1847delC (p.Cys618Valfs) deletion Pathogenic rs886038208 GRCh38 Chromosome X, 12716306: 12716306
3 FRMPD4 NM_014728.3(FRMPD4): c.1657T> C (p.Cys553Arg) single nucleotide variant Pathogenic rs886038209 GRCh37 Chromosome X, 12734235: 12734235
4 FRMPD4 NM_014728.3(FRMPD4): c.1657T> C (p.Cys553Arg) single nucleotide variant Pathogenic rs886038209 GRCh38 Chromosome X, 12716116: 12716116

Expression for Mental Retardation, X-Linked 104

Search GEO for disease gene expression data for Mental Retardation, X-Linked 104.

Pathways for Mental Retardation, X-Linked 104

GO Terms for Mental Retardation, X-Linked 104

Sources for Mental Retardation, X-Linked 104

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
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55 Novoseek
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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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