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MRT14
MCID: INT519
MIFTS: 22

Intellectual Developmental Disorder, Autosomal Recessive 14 (MRT14)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Recessive 14

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MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Recessive 14:

Name: Intellectual Developmental Disorder, Autosomal Recessive 14 57 73 5
Mental Retardation, Autosomal Recessive 14 57 71
Mrt14 57 73
Autosomal Recessive Intellectual Developmental Disorder 14 11
Mental Retardation, Autosomal Recessive, Type 14 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
all known cases are caused by a hutterite founder mutation in the tecr gene


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Mental diseases Neuronal diseases Eye diseases Gastrointestinal diseases Ear diseases Oral diseases Liver diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 11 DOID:0081188
OMIM® 57 614020
OMIM Phenotypic Series 57 PS249500
MeSH 43 D008607
MedGen 40 C3151462
UMLS 71 C3151462
Sources

Summaries for Intellectual Developmental Disorder, Autosomal Recessive 14

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OMIM®: 57 Autosomal recessive intellectual developmental disorder-14 (MRT14) is characterized by developmental delay from birth with mild to moderate impairment of intellectual development. There are no dysmorphic features, and growth parameters and neurologic findings are normal. (614020) (Updated 08-Dec-2022)

MalaCards based summary: Intellectual Developmental Disorder, Autosomal Recessive 14, is also known as mental retardation, autosomal recessive 14. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 14 is TECR (Trans-2,3-Enoyl-CoA Reductase). Affiliated tissues include brain, and related phenotypes are intellectual disability and narrow palate

UniProtKB/Swiss-Prot: 73 A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Disease Ontology: 11 An autosomal recessive intellectual developmental disorder that has material basis in homozygous mutation in the TECR gene on chromosome 19p13.
Sources

Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 14

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Diseases in the Autosomal Dominant Intellectual Developmental Disorder family:

Intellectual Developmental Disorder, Autosomal Dominant 1 Intellectual Developmental Disorder, Autosomal Recessive 1
Intellectual Developmental Disorder, Autosomal Recessive 2 Intellectual Developmental Disorder, Autosomal Recessive 3
Intellectual Developmental Disorder, Autosomal Recessive 12 Intellectual Developmental Disorder, Autosomal Recessive 5
Intellectual Developmental Disorder, Autosomal Recessive 6 Intellectual Developmental Disorder, Autosomal Recessive 7
Intellectual Developmental Disorder, Autosomal Recessive 9 Intellectual Developmental Disorder, Autosomal Recessive 10
Intellectual Developmental Disorder, Autosomal Recessive 11 Intellectual Developmental Disorder, Autosomal Recessive 4
Intellectual Developmental Disorder, Autosomal Dominant 22 Intellectual Developmental Disorder, Autosomal Dominant 3
Intellectual Developmental Disorder, Autosomal Dominant 4 Intellectual Developmental Disorder, Autosomal Dominant 5
Intellectual Developmental Disorder, Autosomal Recessive 13 Intellectual Developmental Disorder, Autosomal Recessive 14
Intellectual Developmental Disorder, Autosomal Dominant 7 Intellectual Developmental Disorder, Autosomal Dominant 2
Intellectual Developmental Disorder, Autosomal Recessive 16 Intellectual Developmental Disorder, Autosomal Dominant 10
Intellectual Developmental Disorder, Autosomal Recessive 31 Intellectual Developmental Disorder, Autosomal Recessive 29
Intellectual Developmental Disorder, Autosomal Recessive 27 Intellectual Developmental Disorder, Autosomal Recessive 33
Intellectual Developmental Disorder, Autosomal Recessive 30 Intellectual Developmental Disorder, Autosomal Recessive 19
Intellectual Developmental Disorder, Autosomal Recessive 23 Intellectual Developmental Disorder, Autosomal Recessive 24
Intellectual Developmental Disorder, Autosomal Recessive 25 Intellectual Developmental Disorder, Autosomal Recessive 28
Intellectual Developmental Disorder, Autosomal Dominant 13 Intellectual Developmental Disorder, Autosomal Recessive 35
Intellectual Developmental Disorder, Autosomal Recessive 37 Intellectual Developmental Disorder, Autosomal Dominant 21
Intellectual Developmental Disorder, Autosomal Recessive 38 Intellectual Developmental Disorder, Autosomal Recessive 39
Intellectual Developmental Disorder, Autosomal Recessive 41 Intellectual Developmental Disorder, Autosomal Dominant 23
Intellectual Developmental Disorder, Autosomal Recessive 43 Intellectual Developmental Disorder, Autosomal Dominant 26
Intellectual Developmental Disorder, Autosomal Recessive 44 Intellectual Developmental Disorder, Autosomal Recessive 45
Intellectual Developmental Disorder, Autosomal Dominant 29 Intellectual Developmental Disorder, Autosomal Recessive 46
Intellectual Developmental Disorder, Autosomal Recessive 47 Intellectual Developmental Disorder, Autosomal Recessive 48
Intellectual Developmental Disorder, Autosomal Dominant 33 Intellectual Developmental Disorder, Autosomal Dominant 34
Intellectual Developmental Disorder, Autosomal Dominant 35 Intellectual Developmental Disorder, Autosomal Dominant 36
Intellectual Developmental Disorder, Autosomal Dominant 38 Intellectual Developmental Disorder, Autosomal Recessive 50
Intellectual Developmental Disorder, Autosomal Dominant 39 Intellectual Developmental Disorder, Autosomal Recessive 51
Intellectual Developmental Disorder, Autosomal Recessive 52 Intellectual Developmental Disorder, Autosomal Dominant 41
Intellectual Developmental Disorder, Autosomal Dominant 42 Intellectual Developmental Disorder, Autosomal Dominant 43
Intellectual Developmental Disorder, Autosomal Recessive 54 Intellectual Developmental Disorder, Autosomal Recessive 56
Intellectual Developmental Disorder, Autosomal Recessive 74 Intellectual Developmental Disorder, Autosomal Recessive 57
Intellectual Developmental Disorder, Autosomal Recessive 58 Intellectual Developmental Disorder, Autosomal Recessive 59
Intellectual Developmental Disorder, Autosomal Recessive 60 Intellectual Developmental Disorder, Autosomal Dominant 45
Intellectual Developmental Disorder, Autosomal Dominant 46 Intellectual Developmental Disorder, Autosomal Dominant 47
Intellectual Developmental Disorder, Autosomal Dominant 48 Intellectual Developmental Disorder, Autosomal Recessive 61
Intellectual Developmental Disorder, Autosomal Dominant 51 Intellectual Developmental Disorder, Autosomal Dominant 52
Intellectual Developmental Disorder, Autosomal Dominant 53 Intellectual Developmental Disorder, Autosomal Dominant 54
Intellectual Developmental Disorder, Autosomal Dominant 56 Intellectual Developmental Disorder, Autosomal Dominant 69
Intellectual Developmental Disorder, Autosomal Dominant 61 Intellectual Developmental Disorder, Autosomal Dominant 57
Intellectual Developmental Disorder, Autosomal Recessive 63 Intellectual Developmental Disorder, Autosomal Recessive 64
Intellectual Developmental Disorder, Autosomal Dominant 58 Intellectual Developmental Disorder, Autosomal Recessive 65
Intellectual Developmental Disorder, Autosomal Recessive 66 Intellectual Developmental Disorder, Autosomal Recessive 67
Intellectual Developmental Disorder, Autosomal Recessive 68 Intellectual Developmental Disorder, Autosomal Recessive 69
Intellectual Developmental Disorder, Autosomal Recessive 70 Intellectual Developmental Disorder, Autosomal Recessive 71
Intellectual Developmental Disorder, Autosomal Dominant 59 Intellectual Developmental Disorder, Autosomal Recessive 72
Intellectual Developmental Disorder, Autosomal Dominant 62 Intellectual Developmental Disorder, Autosomal Dominant 64
Intellectual Developmental Disorder, Autosomal Dominant 65 Intellectual Developmental Disorder, Autosomal Recessive 73
Intellectual Developmental Disorder, Autosomal Dominant 66 Intellectual Developmental Disorder, Autosomal Dominant 67
Intellectual Developmental Disorder, Autosomal Recessive 76 Intellectual Developmental Disorder, Autosomal Dominant 68
Intellectual Developmental Disorder, Autosomal Recessive 77 Autosomal Recessive Intellectual Developmental Disorder
Autosomal Dominant Intellectual Developmental Disorder 6 Autosomal Dominant Intellectual Developmental Disorder 8
Autosomal Dominant Intellectual Developmental Disorder 19 Autosomal Dominant Intellectual Developmental Disorder 31
Autosomal Dominant Intellectual Developmental Disorder 40 Autosomal Recessive Intellectual Developmental Disorder 34
Autosomal Recessive Intellectual Developmental Disorder 75

Sources

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 14

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Human phenotypes related to Intellectual Developmental Disorder, Autosomal Recessive 14:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 narrow palate 30 Very rare (1%) HP:0000189
3 delayed speech and language development 30 Very rare (1%) HP:0000750
4 intention tremor 30 Very rare (1%) HP:0002080

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

Sources

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Recessive 14

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Search Clinical Trials, NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Recessive 14

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Genetic Tests for Intellectual Developmental Disorder, Autosomal Recessive 14

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Anatomical Context for Intellectual Developmental Disorder, Autosomal Recessive 14

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Organs/tissues related to Intellectual Developmental Disorder, Autosomal Recessive 14:

MalaCards : Brain
ODiseA: Brain
Sources

Publications for Intellectual Developmental Disorder, Autosomal Recessive 14

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Articles related to Intellectual Developmental Disorder, Autosomal Recessive 14:

# Title Authors PMID Year
1
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 57 5
22981120 2012
2
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. 57 5
21212097 2011
3
The genetic dissection of complex traits in a founder population. 57 5
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. 5
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. 62
20345473 2010
Sources

Variations for Intellectual Developmental Disorder, Autosomal Recessive 14

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ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 14:

5
# 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.161C>G (p.Pro54Arg) SNV Uncertain Significance
 1029131 rs772297819 GRCh37: 19:14674512-14674512
GRCh38: 19:14563700-14563700
3 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 Intellectual Developmental Disorder, Autosomal Recessive 14:

73
# Symbol AA change Variation ID SNP ID
1 TECR p.Pro182Leu VAR_065918 rs199469705

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Expression for Intellectual Developmental Disorder, Autosomal Recessive 14

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Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Recessive 14.
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Pathways for Intellectual Developmental Disorder, Autosomal Recessive 14

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GO Terms for Intellectual Developmental Disorder, Autosomal Recessive 14

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Sources for Intellectual Developmental Disorder, Autosomal Recessive 14

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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