MRD39
MCID: MNT236
MIFTS: 24

Mental Retardation, Autosomal Dominant 39 (MRD39)

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 39

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 39:

Name: Mental Retardation, Autosomal Dominant 39 57 75 29 6
Mrd39 57 12 75
Autosomal Dominant Non-Syndromic Intellectual Disability 39 12
Mental Retardation, Autosomal Dominant, Type 39 40
Autosomal Dominant Mental Retardation 39 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes


HPO:

32
mental retardation, autosomal dominant 39:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 39

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 39: 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. MRD39 patients show delayed psychomotor development and autistic features.

MalaCards based summary : Mental Retardation, Autosomal Dominant 39, is also known as mrd39. An important gene associated with Mental Retardation, Autosomal Dominant 39 is MYT1L (Myelin Transcription Factor 1 Like). Affiliated tissues include skin, bone and eye, and related phenotypes are obesity and intellectual disability

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3.

Description from OMIM: 616521

Related Diseases for Mental Retardation, Autosomal Dominant 39

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 Dominant 19 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
Autosomal Dominant Mental Retardation 55

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 39

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
speech delay
delayed development

Growth Weight:
obesity (in most patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic features
stereotypic movements
aggression


Clinical features from OMIM:

616521

Human phenotypes related to Mental Retardation, Autosomal Dominant 39:

32
# Description HPO Frequency HPO Source Accession
1 obesity 32 hallmark (90%) HP:0001513
2 intellectual disability 32 HP:0001249
3 global developmental delay 32 HP:0001263
4 delayed speech and language development 32 HP:0000750
5 aggressive behavior 32 HP:0000718

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 39

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 39

Genetic Tests for Mental Retardation, Autosomal Dominant 39

Genetic tests related to Mental Retardation, Autosomal Dominant 39:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 39 29 MYT1L

Anatomical Context for Mental Retardation, Autosomal Dominant 39

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 39:

41
Skin, Bone, Eye

Publications for Mental Retardation, Autosomal Dominant 39

Variations for Mental Retardation, Autosomal Dominant 39

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 39:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYT1L NM_015025.3(MYT1L): c.2636+1G> A single nucleotide variant Pathogenic rs869320675 GRCh38 Chromosome 2, 1887487: 1887487
2 MYT1L NM_015025.3(MYT1L): c.2636+1G> A single nucleotide variant Pathogenic rs869320675 GRCh37 Chromosome 2, 1891259: 1891259
3 MYT1L NM_015025.3(MYT1L): c.1917T> G (p.Tyr639Ter) single nucleotide variant Pathogenic rs869320676 GRCh37 Chromosome 2, 1906961: 1906961
4 MYT1L NM_015025.3(MYT1L): c.1917T> G (p.Tyr639Ter) single nucleotide variant Pathogenic rs869320676 GRCh38 Chromosome 2, 1903189: 1903189
5 MYT1L NM_001303052.1(MYT1L): c.1559T> C (p.Leu520Pro) single nucleotide variant Likely pathogenic rs1057519560 GRCh37 Chromosome 2, 1921036: 1921036
6 MYT1L NM_001303052.1(MYT1L): c.1559T> C (p.Leu520Pro) single nucleotide variant Likely pathogenic rs1057519560 GRCh38 Chromosome 2, 1917264: 1917264
7 MYT1L NM_001303052.1(MYT1L): c.760dup (p.Asp254Glyfs) duplication Pathogenic GRCh37 Chromosome 2, 1926781: 1926781
8 MYT1L NM_001303052.1(MYT1L): c.760dup (p.Asp254Glyfs) duplication Pathogenic GRCh38 Chromosome 2, 1923009: 1923009

Expression for Mental Retardation, Autosomal Dominant 39

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 39.

Pathways for Mental Retardation, Autosomal Dominant 39

GO Terms for Mental Retardation, Autosomal Dominant 39

Sources for Mental Retardation, Autosomal Dominant 39

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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44 MeSH
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49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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