MCID: MNT215
MIFTS: 20

Mental Retardation, Autosomal Recessive 43

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Fetal diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 43

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 43:

Name: Mental Retardation, Autosomal Recessive 43 57 75 29 6 73
Mrt43 57 75
Mental Retardation, Autosomal Recessive, Type 43 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mental retardation, autosomal recessive 43:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 43

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal recessive 43: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, Autosomal Recessive 43, is also known as mrt43. An important gene associated with Mental Retardation, Autosomal Recessive 43 is WASHC4 (WASH Complex Subunit 4). Related phenotypes are intellectual disability and spasticity

Description from OMIM: 615817

Related Diseases for Mental Retardation, Autosomal Recessive 43

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Recessive 37
Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Recessive 40
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Dominant 29
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Recessive 47
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 42
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Recessive 56 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Recessive 58 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 48 Mental Retardation, Autosomal Dominant 49
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 43

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Neurologic Central Nervous System:
delayed development
mental retardation, moderate to severe (iq 35-50)
poor language
poor adaptive skills
poor fine motor skills
more

Clinical features from OMIM:

615817

Human phenotypes related to Mental Retardation, Autosomal Recessive 43:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 spasticity 32 occasional (7.5%) HP:0001257
3 global developmental delay 32 HP:0001263
4 short stature 32 HP:0004322

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 43

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 43

Genetic Tests for Mental Retardation, Autosomal Recessive 43

Genetic tests related to Mental Retardation, Autosomal Recessive 43:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 43 29 WASHC4

Anatomical Context for Mental Retardation, Autosomal Recessive 43

Publications for Mental Retardation, Autosomal Recessive 43

Variations for Mental Retardation, Autosomal Recessive 43

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 43:

75
# Symbol AA change Variation ID SNP ID
1 WASHC4 p.Pro1019Arg VAR_071384 rs587777411

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 43:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WASHC4 NM_015275.2(WASHC4): c.3056C> G (p.Pro1019Arg) single nucleotide variant Pathogenic rs587777411 GRCh37 Chromosome 12, 105553922: 105553922
2 WASHC4 NM_015275.2(WASHC4): c.3056C> G (p.Pro1019Arg) single nucleotide variant Pathogenic rs587777411 GRCh38 Chromosome 12, 105160144: 105160144

Expression for Mental Retardation, Autosomal Recessive 43

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 43.

Pathways for Mental Retardation, Autosomal Recessive 43

GO Terms for Mental Retardation, Autosomal Recessive 43

Sources for Mental Retardation, Autosomal Recessive 43

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
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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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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