MRT56
MCID: MNT284
MIFTS: 17

Mental Retardation, Autosomal Recessive 56 (MRT56)

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 56

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 56:

Name: Mental Retardation, Autosomal Recessive 56 57 72 29 6
Mrt56 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
two unrelated consanguineous iranian families with limited clinical details have been reported (last curated september 2016)


HPO:

31
mental retardation, autosomal recessive 56:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617125
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Recessive 56

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 56: 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.

MalaCards based summary : Mental Retardation, Autosomal Recessive 56, is also known as mrt56. An important gene associated with Mental Retardation, Autosomal Recessive 56 is ZC3H14 (Zinc Finger CCCH-Type Containing 14). Related phenotype is intellectual disability.

More information from OMIM: 617125 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 56

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 56

Human phenotypes related to Mental Retardation, Autosomal Recessive 56:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability, mild to severe

Clinical features from OMIM®:

617125 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 56

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 56

Genetic Tests for Mental Retardation, Autosomal Recessive 56

Genetic tests related to Mental Retardation, Autosomal Recessive 56:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 56 29 ZC3H14

Anatomical Context for Mental Retardation, Autosomal Recessive 56

Publications for Mental Retardation, Autosomal Recessive 56

Articles related to Mental Retardation, Autosomal Recessive 56:

# Title Authors PMID Year
1
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. 6 57
21734151 2011

Variations for Mental Retardation, Autosomal Recessive 56

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 56:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZC3H14 NM_024824.5(ZC3H14):c.460C>T (p.Arg154Ter) SNV Pathogenic 254278 rs886037950 GRCh37: 14:89038950-89038950
GRCh38: 14:88572606-88572606
2 ZC3H14 NM_024824.5(ZC3H14):c.2204+17_2204+41del Deletion Conflicting interpretations of pathogenicity 254279 rs571303442 GRCh37: 14:89077292-89077316
GRCh38: 14:88610948-88610972
3 ZC3H14 NM_024824.5(ZC3H14):c.1280-1856A>G SNV Uncertain significance 1029539 GRCh37: 14:89061222-89061222
GRCh38: 14:88594878-88594878
4 ZC3H14 NM_024824.5(ZC3H14):c.1232C>T (p.Pro411Leu) SNV Uncertain significance 1030880 GRCh37: 14:89044437-89044437
GRCh38: 14:88578093-88578093
5 ZC3H14 NM_024824.5(ZC3H14):c.1133A>G (p.Lys378Arg) SNV Uncertain significance 1031409 GRCh37: 14:89044338-89044338
GRCh38: 14:88577994-88577994
6 ZC3H14 NM_024824.5(ZC3H14):c.311G>A (p.Arg104Gln) SNV Uncertain significance 1031410 GRCh37: 14:89038449-89038449
GRCh38: 14:88572105-88572105
7 ZC3H14 NM_024824.5(ZC3H14):c.853A>T (p.Ser285Cys) SNV Uncertain significance 728973 rs145521296 GRCh37: 14:89039343-89039343
GRCh38: 14:88572999-88572999
8 ZC3H14 NM_024824.5(ZC3H14):c.1424C>T (p.Ser475Phe) SNV Likely benign 915328 GRCh37: 14:89068337-89068337
GRCh38: 14:88601993-88601993

Expression for Mental Retardation, Autosomal Recessive 56

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 56.

Pathways for Mental Retardation, Autosomal Recessive 56

GO Terms for Mental Retardation, Autosomal Recessive 56

Sources for Mental Retardation, Autosomal Recessive 56

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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