MRT43
MCID: MNT215
MIFTS: 20

Mental Retardation, Autosomal Recessive 43 (MRT43)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare 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 72 29 6 70
Mrt43 57 72
Mental Retardation, Autosomal Recessive, Type 43 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mental retardation, autosomal recessive 43:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615817
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607
UMLS 70 C4014386

Summaries for Mental Retardation, Autosomal Recessive 43

UniProtKB/Swiss-Prot : 72 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 spasticity and intellectual disability

More information from OMIM: 615817 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 43

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 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 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 26
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 Recessive 48
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 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 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 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 43

Human phenotypes related to Mental Retardation, Autosomal Recessive 43:

31
# Description HPO Frequency HPO Source Accession
1 spasticity 31 occasional (7.5%) HP:0001257
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 short stature 31 HP:0004322

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Neurologic Central Nervous System:
delayed development
poor language
poor fine motor skills
spasticity (1 patient)
mental retardation, moderate to severe (iq 35-50)
more

Clinical features from OMIM®:

615817 (Updated 05-Apr-2021)

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

Articles related to Mental Retardation, Autosomal Recessive 43:

# Title Authors PMID Year
1
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. 6 57
21498477 2011

Variations for Mental Retardation, Autosomal Recessive 43

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WASHC4 NM_015275.3(WASHC4):c.3056C>G (p.Pro1019Arg) SNV Pathogenic 133296 rs587777411 GRCh37: 12:105553922-105553922
GRCh38: 12:105160144-105160144
2 WASHC4 NM_015275.3(WASHC4):c.3220C>T (p.Gln1074Ter) SNV Pathogenic 1032673 GRCh37: 12:105557951-105557951
GRCh38: 12:105164173-105164173
3 WASHC4 NM_015275.3(WASHC4):c.399C>A (p.Cys133Ter) SNV Pathogenic 1029529 GRCh37: 12:105509470-105509470
GRCh38: 12:105115692-105115692
4 WASHC4 NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) SNV Likely pathogenic 695111 rs748436953 GRCh37: 12:105557967-105557967
GRCh38: 12:105164189-105164189
5 WASHC4 NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) SNV Likely pathogenic 695112 rs201428088 GRCh37: 12:105534127-105534127
GRCh38: 12:105140349-105140349
6 WASHC4 NM_015275.3(WASHC4):c.1038+1G>T SNV Likely pathogenic 996910 GRCh37: 12:105520141-105520141
GRCh38: 12:105126363-105126363
7 WASHC4 NM_015275.3(WASHC4):c.443C>G (p.Ser148Cys) SNV Uncertain significance 1032674 GRCh37: 12:105512231-105512231
GRCh38: 12:105118453-105118453
8 WASHC4 NM_015275.3(WASHC4):c.49G>A (p.Asp17Asn) SNV Uncertain significance 742318 rs191511427 GRCh37: 12:105501627-105501627
GRCh38: 12:105107849-105107849
9 WASHC4 NM_015275.3(WASHC4):c.641A>G (p.Lys214Arg) SNV Uncertain significance 1032675 GRCh37: 12:105514958-105514958
GRCh38: 12:105121180-105121180
10 WASHC4 NM_015275.3(WASHC4):c.971T>C (p.Leu324Ser) SNV Uncertain significance 1029530 GRCh37: 12:105520073-105520073
GRCh38: 12:105126295-105126295
11 WASHC4 NM_015275.3(WASHC4):c.2767A>G (p.Met923Val) SNV Uncertain significance 1032672 GRCh37: 12:105550512-105550512
GRCh38: 12:105156734-105156734

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

72
# Symbol AA change Variation ID SNP ID
1 WASHC4 p.Pro1019Arg VAR_071384 rs587777411

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 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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