MCID: MNT328
MIFTS: 20

Mental Retardation, Autosomal Dominant 52

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 52

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 52:

Name: Mental Retardation, Autosomal Dominant 52 57 75 29 6
Mrd52 57 75
Autosomal Dominant Mental Retardation 52 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable phenotype
de novo mutation


Classifications:



External Ids:

OMIM 57 617796
Disease Ontology 12 DOID:0080231
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 52

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 52: 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 52, is also known as mrd52. An important gene associated with Mental Retardation, Autosomal Dominant 52 is ASH1L (ASH1 Like Histone Lysine Methyltransferase). Affiliated tissues include brain.

Description from OMIM: 617796

Related Diseases for Mental Retardation, Autosomal Dominant 52

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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 52

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
dysmorphic facial features, variable

Genitourinary External Genitalia Male:
cryptorchidism

Neurologic Central Nervous System:
delayed development
intellectual disability
poor or absent speech
sleep disorder
seizures (in some patients)
more
Abdomen Gastrointestinal:
feeding difficulties
gastrointestinal disturbances

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
behavioral abnormalities
hyperactivity
attention problems
anxiety


Clinical features from OMIM:

617796

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 52

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 52

Genetic Tests for Mental Retardation, Autosomal Dominant 52

Genetic tests related to Mental Retardation, Autosomal Dominant 52:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 52 29

Anatomical Context for Mental Retardation, Autosomal Dominant 52

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 52:

41
Brain

Publications for Mental Retardation, Autosomal Dominant 52

Variations for Mental Retardation, Autosomal Dominant 52

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 52:

6
(show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASH1L NM_018489.2(ASH1L): c.2170G> T (p.Ala724Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 155480700: 155480700
2 ASH1L NM_018489.2(ASH1L): c.2170G> T (p.Ala724Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 155450491: 155450491
3 ASH1L ASH1L, VAL2080ILE undetermined variant Pathogenic
4 ASH1L NM_018489.2(ASH1L): c.8854dup (p.Arg2952Lysfs) duplication Pathogenic GRCh38 Chromosome 1, 155337701: 155337701
5 ASH1L NM_018489.2(ASH1L): c.8854dup (p.Arg2952Lysfs) duplication Pathogenic GRCh37 Chromosome 1, 155307492: 155307492
6 ASH1L NM_018489.2(ASH1L): c.3704_3705delCTinsC (p.Glu1236Lysfs) indel Pathogenic GRCh37 Chromosome 1, 155448956: 155448957
7 ASH1L NM_018489.2(ASH1L): c.3704_3705delCTinsC (p.Glu1236Lysfs) indel Pathogenic GRCh38 Chromosome 1, 155479165: 155479166
8 ASH1L NM_018489.2(ASH1L): c.7764_7768dup (p.Asp2590Alafs) duplication Pathogenic GRCh37 Chromosome 1, 155317482: 155317486
9 ASH1L NM_018489.2(ASH1L): c.7764_7768dup (p.Asp2590Alafs) duplication Pathogenic GRCh38 Chromosome 1, 155347691: 155347695
10 ASH1L NM_018489.2(ASH1L): c.6427G> T (p.Glu2143Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 155370889: 155370889
11 ASH1L NM_018489.2(ASH1L): c.6427G> T (p.Glu2143Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 155340680: 155340680
12 ASH1L NM_018489.2(ASH1L): c.8356G> C (p.Ala2786Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 155342040: 155342040
13 ASH1L NM_018489.2(ASH1L): c.8356G> C (p.Ala2786Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 155311831: 155311831
14 ASH1L NM_018489.2(ASH1L): c.2422_2423delAAinsT (p.Lys808Tyrfs) indel Pathogenic GRCh37 Chromosome 1, 155450238: 155450239
15 ASH1L NM_018489.2(ASH1L): c.2422_2423delAAinsT (p.Lys808Tyrfs) indel Pathogenic GRCh38 Chromosome 1, 155480447: 155480448

Expression for Mental Retardation, Autosomal Dominant 52

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 52.

Pathways for Mental Retardation, Autosomal Dominant 52

GO Terms for Mental Retardation, Autosomal Dominant 52

Sources for Mental Retardation, Autosomal Dominant 52

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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