MRD52
MCID: MNT328
MIFTS: 24

Mental Retardation, Autosomal Dominant 52 (MRD52)

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 52

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 52:

Name: Mental Retardation, Autosomal Dominant 52 58 76 30 6 17
Mrd52 58 76
Autosomal Dominant Mental Retardation 52 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in infancy
de novo mutation


HPO:

33
mental retardation, autosomal dominant 52:
Onset and clinical course phenotypic variability infantile onset


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 52

UniProtKB/Swiss-Prot : 76 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), and among its related pathways/superpathways are Chromatin organization and PKMTs methylate histone lysines. Affiliated tissues include brain, and related phenotypes are seizures and intellectual disability

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 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 52

Human phenotypes related to Mental Retardation, Autosomal Dominant 52:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 intellectual disability 33 HP:0001249
3 global developmental delay 33 HP:0001263
4 feeding difficulties 33 HP:0011968
5 absent speech 33 HP:0001344
6 anxiety 33 HP:0000739
7 autistic behavior 33 HP:0000729
8 hyperactivity 33 HP:0000752

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
seizures (in some patients)
delayed development
sleep disorder
poor or absent speech
more
Genitourinary External Genitalia Male:
cryptorchidism

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
feeding difficulties
gastrointestinal disturbances

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

Head And Neck Face:
dysmorphic facial features, variable

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 30 ASH1L

Anatomical Context for Mental Retardation, Autosomal Dominant 52

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

42
Brain

Publications for Mental Retardation, Autosomal Dominant 52

Variations for Mental Retardation, Autosomal Dominant 52

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 52:

76
# Symbol AA change Variation ID SNP ID
1 ASH1L p.Ala2791Pro VAR_080562

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

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASH1L NM_018489.2(ASH1L): c.2170G> T (p.Ala724Ser) single nucleotide variant Pathogenic rs1293246328 GRCh38 Chromosome 1, 155480700: 155480700
2 ASH1L NM_018489.2(ASH1L): c.2170G> T (p.Ala724Ser) single nucleotide variant Pathogenic rs1293246328 GRCh37 Chromosome 1, 155450491: 155450491
3 ASH1L ASH1L, VAL2080ILE undetermined variant Pathogenic
4 ASH1L NM_018489.2(ASH1L): c.8854dup (p.Arg2952Lysfs) duplication Pathogenic rs775592405 GRCh38 Chromosome 1, 155337701: 155337701
5 ASH1L NM_018489.2(ASH1L): c.8854dup (p.Arg2952Lysfs) duplication Pathogenic rs775592405 GRCh37 Chromosome 1, 155307492: 155307492
6 ASH1L NM_018489.2(ASH1L): c.3704_3705delCTinsC (p.Glu1236Lysfs) indel Pathogenic rs1553265189 GRCh38 Chromosome 1, 155479165: 155479166
7 ASH1L NM_018489.2(ASH1L): c.3704_3705delCTinsC (p.Glu1236Lysfs) indel Pathogenic rs1553265189 GRCh37 Chromosome 1, 155448956: 155448957
8 ASH1L NM_018489.2(ASH1L): c.7764_7768dup (p.Asp2590Alafs) duplication Pathogenic rs1553242856 GRCh37 Chromosome 1, 155317482: 155317486
9 ASH1L NM_018489.2(ASH1L): c.7764_7768dup (p.Asp2590Alafs) duplication Pathogenic rs1553242856 GRCh38 Chromosome 1, 155347691: 155347695
10 ASH1L NM_018489.2(ASH1L): c.6427G> T (p.Glu2143Ter) single nucleotide variant Pathogenic rs1553247374 GRCh38 Chromosome 1, 155370889: 155370889
11 ASH1L NM_018489.2(ASH1L): c.6427G> T (p.Glu2143Ter) single nucleotide variant Pathogenic rs1553247374 GRCh37 Chromosome 1, 155340680: 155340680
12 ASH1L NM_018489.2(ASH1L): c.8356G> C (p.Ala2786Pro) single nucleotide variant Pathogenic rs1553241570 GRCh38 Chromosome 1, 155342040: 155342040
13 ASH1L NM_018489.2(ASH1L): c.8356G> C (p.Ala2786Pro) single nucleotide variant Pathogenic rs1553241570 GRCh37 Chromosome 1, 155311831: 155311831
14 ASH1L NM_018489.2(ASH1L): c.2422_2423delAAinsT (p.Lys808Tyrfs) indel Pathogenic rs1553265703 GRCh37 Chromosome 1, 155450238: 155450239
15 ASH1L NM_018489.2(ASH1L): c.2422_2423delAAinsT (p.Lys808Tyrfs) indel Pathogenic rs1553265703 GRCh38 Chromosome 1, 155480447: 155480448
16 ASH1L NM_018489.2(ASH1L): c.6803_6804delGTinsTTCTCA (p.Cys2268Phefs) indel Pathogenic rs1553245038 GRCh38 Chromosome 1, 155357741: 155357742
17 ASH1L NM_018489.2(ASH1L): c.6803_6804delGTinsTTCTCA (p.Cys2268Phefs) indel Pathogenic rs1553245038 GRCh37 Chromosome 1, 155327532: 155327533

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

Pathways related to Mental Retardation, Autosomal Dominant 52 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.8 ASH1L MIR555
2
Show member pathways
10.78 ASH1L MIR555

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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
Content
Loading form....