MRD49
MCID: MNT324
MIFTS: 23

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 57 74 29 6
Mrd49 57 74
Mental Retardation, Autosomal Dominant, Type 49 40
Autosomal Dominant Mental Retardation 49 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation


HPO:

32
mental retardation, autosomal dominant 49:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080234
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 49

UniProtKB/Swiss-Prot : 74 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). Related phenotypes are obesity and seizures

More information from OMIM: 617752 PS156200

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 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:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 obesity 32 very rare (1%) HP:0001513
2 seizures 32 very rare (1%) HP:0001250
3 hypertelorism 32 HP:0000316
4 clinodactyly 32 HP:0030084
5 high palate 32 HP:0000218
6 intellectual disability 32 HP:0001249
7 global developmental delay 32 HP:0001263
8 depressed nasal bridge 32 HP:0005280
9 delayed speech and language development 32 HP:0000750
10 abnormal facial shape 32 HP:0001999
11 short nose 32 HP:0003196
12 long philtrum 32 HP:0000343
13 hyperactivity 32 HP:0000752
14 generalized hypotonia 32 HP:0001290
15 strabismus 32 HP:0000486
16 epicanthus 32 HP:0000286
17 wide mouth 32 HP:0000154
18 aggressive behavior 32 HP:0000718
19 upslanted palpebral fissure 32 HP:0000582
20 sandal gap 32 HP:0001852
21 downturned corners of mouth 32 HP:0002714
22 narrow palpebral fissure 32 HP:0045025

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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

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 29 TRIP12

Anatomical Context for Mental Retardation, Autosomal Dominant 49

Publications for Mental Retardation, Autosomal Dominant 49

Articles related to Mental Retardation, Autosomal Dominant 49:

# Title Authors PMID Year
1
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. 8 71
27848077 2017
2
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 8 71
27479843 2016
3
The contribution of de novo coding mutations to autism spectrum disorder. 8 71
25363768 2014
4
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. 71
28660352 2017
5
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. 8
28251352 2017

Variations for Mental Retardation, Autosomal Dominant 49

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRIP12 NM_001284214.2(TRIP12): c.582_583AG[2] (p.Ser196fs) short repeat Pathogenic rs1553704327 2:230723928-230723929 2:229859212-229859213
2 TRIP12 NM_001284214.2(TRIP12): c.3401+1G> A single nucleotide variant Pathogenic rs1553616463 2:230663590-230663590 2:229798874-229798874
3 TRIP12 NM_001284214.2(TRIP12): c.4928G> A (p.Arg1643Gln) single nucleotide variant Pathogenic rs1553602821 2:230650558-230650558 2:229785842-229785842
4 TRIP12 NM_001284214.2(TRIP12): c.3590_3591del (p.Val1196_Ser1197insTer) deletion Pathogenic rs1553614300 2:230661451-230661452 2:229796735-229796736
5 TRIP12 NM_001284214.2(TRIP12): c.3123dup (p.Gly1042fs) duplication Pathogenic rs1553620494 2:230666970-230666970 2:229802254-229802254
6 TRIP12 NM_001284214.2(TRIP12): c.3887+1G> A single nucleotide variant Pathogenic rs1553612358 2:230659894-230659894 2:229795178-229795178
7 TRIP12 NM_001284214.2(TRIP12): c.4237C> T (p.Gln1413Ter) single nucleotide variant Pathogenic 2:230656679-230656679 2:229791963-229791963
8 TRIP12 NM_001284214.2(TRIP12): c.5720C> T (p.Pro1907Leu) single nucleotide variant Likely pathogenic 2:230636242-230636242 2:229771526-229771526

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

74
# 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 rs155360282
4 TRIP12 p.Ser1840Leu VAR_080438 rs866079762

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

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10 dbSNP
11 DGIdb
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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