MRT14
MCID: MNT154
MIFTS: 21

Mental Retardation, Autosomal Recessive 14 (MRT14)

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 14

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 14:

Name: Mental Retardation, Autosomal Recessive 14 57 72 29 13 6 70
Mrt14 57 72
Mental Retardation Non-Syndromic Autosomal Recessive 14 72
Mental Retardation, Autosomal Recessive, Type 14 39

Characteristics:

OMIM®:

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

Miscellaneous:
all known cases are caused by a hutterite founder mutation in the tecr gene


HPO:

31
mental retardation, autosomal recessive 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614020
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607
MedGen 41 C3151462
UMLS 70 C3151462

Summaries for Mental Retardation, Autosomal Recessive 14

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 14: 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 14, is also known as mrt14. An important gene associated with Mental Retardation, Autosomal Recessive 14 is TECR (Trans-2,3-Enoyl-CoA Reductase). Related phenotypes are intellectual disability and narrow palate

More information from OMIM: 614020 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 14

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 14

Human phenotypes related to Mental Retardation, Autosomal Recessive 14:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 narrow palate 31 HP:0000189
3 delayed speech and language development 31 HP:0000750

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
narrow palate

Neurologic Central Nervous System:
speech delay
mental retardation, mild to moderate
developmental delay since birth
minimal reading and writing skills
poor fine motor skills

Clinical features from OMIM®:

614020 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 14

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 14

Genetic Tests for Mental Retardation, Autosomal Recessive 14

Genetic tests related to Mental Retardation, Autosomal Recessive 14:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 14 29 TECR

Anatomical Context for Mental Retardation, Autosomal Recessive 14

Publications for Mental Retardation, Autosomal Recessive 14

Articles related to Mental Retardation, Autosomal Recessive 14:

# Title Authors PMID Year
1
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 57 6
22981120 2012
2
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. 6 57
21212097 2011
3
The genetic dissection of complex traits in a founder population. 57 6
11590547 2001
4
Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile. 6
24220030 2013
5
Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. 57
18446860 2008
6
Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. 61
20345473 2010

Variations for Mental Retardation, Autosomal Recessive 14

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 14:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TECR NM_138501.6(TECR):c.545C>T (p.Pro182Leu) SNV Pathogenic 30810 rs199469705 GRCh37: 19:14675653-14675653
GRCh38: 19:14564841-14564841
2 TECR NM_138501.6(TECR):c.926G>A (p.Ter309=) SNV Pathogenic 1033087 GRCh37: 19:14676682-14676682
GRCh38: 19:14565870-14565870
3 TECR NM_138501.6(TECR):c.161C>G (p.Pro54Arg) SNV Uncertain significance 1029131 GRCh37: 19:14674512-14674512
GRCh38: 19:14563700-14563700
4 TECR NM_138501.6(TECR):c.262G>T (p.Val88Leu) SNV Uncertain significance 376921 rs753690636 GRCh37: 19:14674710-14674710
GRCh38: 19:14563898-14563898

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 14:

72
# Symbol AA change Variation ID SNP ID
1 TECR p.Pro182Leu VAR_065918 rs199469705

Expression for Mental Retardation, Autosomal Recessive 14

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 14.

Pathways for Mental Retardation, Autosomal Recessive 14

GO Terms for Mental Retardation, Autosomal Recessive 14

Sources for Mental Retardation, Autosomal Recessive 14

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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