MRD49
MCID: MNT324
MIFTS: 26

Mental Retardation, Autosomal Dominant 49 (MRD49)

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 49

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 49:

Name: Mental Retardation, Autosomal Dominant 49 58 76 30 6
Mrd49 58 76
Mental Retardation, Autosomal Dominant, Type 49 41
Autosomal Dominant Mental Retardation 49 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation


HPO:

33
mental retardation, autosomal dominant 49:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 49

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal dominant 49: 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 Dominant 49, is also known as mrd49. An important gene associated with Mental Retardation, Autosomal Dominant 49 is TRIP12 (Thyroid Hormone Receptor Interactor 12). Affiliated tissues include skin, bone and eye, and related phenotypes are seizures and hypertelorism

Description from OMIM: 617752

Related Diseases for Mental Retardation, Autosomal Dominant 49

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 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
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 Dominant 49

Human phenotypes related to Mental Retardation, Autosomal Dominant 49:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 hypertelorism 33 HP:0000316
3 high palate 33 HP:0000218
4 intellectual disability 33 HP:0001249
5 global developmental delay 33 HP:0001263
6 depressed nasal bridge 33 HP:0005280
7 delayed speech and language development 33 HP:0000750
8 abnormal facial shape 33 HP:0001999
9 short nose 33 HP:0003196
10 long philtrum 33 HP:0000343
11 strabismus 33 HP:0000486
12 epicanthus 33 HP:0000286
13 wide mouth 33 HP:0000154
14 aggressive behavior 33 HP:0000718
15 upslanted palpebral fissure 33 HP:0000582
16 downturned corners of mouth 33 HP:0002714
17 hyperactivity 33 HP:0000752
18 narrow palpebral fissure 33 HP:0045025

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
strabismus
epicanthal folds
upslanting palpebral fissures
narrow palpebral fissures

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
learning disabilities
seizures (rare)
delayed speech

Head And Neck Face:
long philtrum
dysmorphic facial features, mild, highly variable

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
autistic features
impulsive behavior

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
large ear lobes

Skeletal Hands:
clinodactyly

Head And Neck Nose:
depressed nasal bridge
short nose
low columella

Head And Neck Mouth:
wide mouth
high-arched palate
downturned corners of the mouth

Skeletal Feet:
sandal gap

Growth Weight:
obesity (in some patients)

Clinical features from OMIM:

617752

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 49

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 49

Genetic Tests for Mental Retardation, Autosomal Dominant 49

Genetic tests related to Mental Retardation, Autosomal Dominant 49:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 49 30 TRIP12

Anatomical Context for Mental Retardation, Autosomal Dominant 49

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 49:

42
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Dominant 49

Articles related to Mental Retardation, Autosomal Dominant 49:

# Title Authors Year
1
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. ( 27848077 )
2017
2
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. ( 28660352 )
2017
3
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. ( 27479843 )
2016
4
The contribution of de novo coding mutations to autism spectrum disorder. ( 25363768 )
2014

Variations for Mental Retardation, Autosomal Dominant 49

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 49:

76
# Symbol AA change Variation ID SNP ID
1 TRIP12 p.Ala761Val VAR_080434 rs373429636
2 TRIP12 p.Asp1557His VAR_080436
3 TRIP12 p.Arg1595Gln VAR_080437
4 TRIP12 p.Ser1840Leu VAR_080438 rs866079762

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 49:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIP12 NM_001284215.2(TRIP12): c.460_461delAG (p.Ser154Phefs) deletion Pathogenic rs1553704327 GRCh37 Chromosome 2, 230723928: 230723929
2 TRIP12 NM_001284215.2(TRIP12): c.460_461delAG (p.Ser154Phefs) deletion Pathogenic rs1553704327 GRCh38 Chromosome 2, 229859212: 229859213
3 TRIP12 NM_001284214.1(TRIP12): c.3401+1G> A single nucleotide variant Pathogenic rs1553616463 GRCh37 Chromosome 2, 230663590: 230663590
4 TRIP12 NM_001284214.1(TRIP12): c.3401+1G> A single nucleotide variant Pathogenic rs1553616463 GRCh38 Chromosome 2, 229798874: 229798874
5 TRIP12 NM_001284214.1(TRIP12): c.4928G> A (p.Arg1643Gln) single nucleotide variant Pathogenic rs1553602821 GRCh37 Chromosome 2, 230650558: 230650558
6 TRIP12 NM_001284214.1(TRIP12): c.4928G> A (p.Arg1643Gln) single nucleotide variant Pathogenic rs1553602821 GRCh38 Chromosome 2, 229785842: 229785842
7 TRIP12 NM_004238.2(TRIP12): c.3446_3447delCA (p.Ser1149Terfs) deletion Pathogenic rs1553614300 GRCh38 Chromosome 2, 229796735: 229796736
8 TRIP12 NM_004238.2(TRIP12): c.3446_3447delCA (p.Ser1149Terfs) deletion Pathogenic rs1553614300 GRCh37 Chromosome 2, 230661451: 230661452
9 TRIP12 NM_001284214.1(TRIP12): c.3123dup (p.Gly1042Argfs) duplication Pathogenic rs1553620494 GRCh38 Chromosome 2, 229802254: 229802254
10 TRIP12 NM_001284214.1(TRIP12): c.3123dup (p.Gly1042Argfs) duplication Pathogenic rs1553620494 GRCh37 Chromosome 2, 230666970: 230666970
11 TRIP12 NM_001284214.1(TRIP12): c.3887+1G> A single nucleotide variant Pathogenic rs1553612358 GRCh38 Chromosome 2, 229795178: 229795178
12 TRIP12 NM_001284214.1(TRIP12): c.3887+1G> A single nucleotide variant Pathogenic rs1553612358 GRCh37 Chromosome 2, 230659894: 230659894
13 TRIP12 NM_001284215.2(TRIP12): c.5675C> T (p.Pro1892Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 229771526: 229771526
14 TRIP12 NM_001284215.2(TRIP12): c.5675C> T (p.Pro1892Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 230636242: 230636242
15 TRIP12 NM_001284214.1(TRIP12): c.4237C> T (p.Gln1413Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 229791963: 229791963
16 TRIP12 NM_001284214.1(TRIP12): c.4237C> T (p.Gln1413Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 230656679: 230656679

Expression for Mental Retardation, Autosomal Dominant 49

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 49.

Pathways for Mental Retardation, Autosomal Dominant 49

GO Terms for Mental Retardation, Autosomal Dominant 49

Sources for Mental Retardation, Autosomal Dominant 49

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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35 ICD10 via Orphanet
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45 MeSH
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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