MRD52
MCID: MNT328
MIFTS: 26

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 57 74 29 6 17
Mrd52 57 74
Autosomal Dominant Mental Retardation 52 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in infancy
de novo mutation


HPO:

32
mental retardation, autosomal dominant 52:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080231
MeSH 44 D008607

Summaries for Mental Retardation, Autosomal Dominant 52

UniProtKB/Swiss-Prot : 74 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

More information from OMIM: 617796 PS156200

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 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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 intellectual disability 32 HP:0001249
3 global developmental delay 32 HP:0001263
4 abnormal facial shape 32 HP:0001999
5 hyperactivity 32 HP:0000752
6 generalized hypotonia 32 HP:0001290
7 feeding difficulties 32 HP:0011968
8 absent speech 32 HP:0001344
9 cryptorchidism 32 HP:0000028
10 anxiety 32 HP:0000739
11 autistic behavior 32 HP:0000729

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
seizures (in some patients)
delayed development
sleep disorder
poor or absent speech
more
Abdomen Gastrointestinal:
feeding difficulties
gastrointestinal disturbances

Muscle Soft Tissue:
hypotonia

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

Genitourinary External Genitalia Male:
cryptorchidism

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 29 ASH1L

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

Articles related to Mental Retardation, Autosomal Dominant 52:

# Title Authors PMID Year
1
Novel MCA/ID syndrome with ASH1L mutation. 8 71
28394464 2017
2
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 8 71
28191889 2017
3
De novo genic mutations among a Chinese autism spectrum disorder cohort. 8 71
27824329 2016
4
Excess of rare, inherited truncating mutations in autism. 8 71
25961944 2015
5
Diagnostic exome sequencing in persons with severe intellectual disability. 8 71
23033978 2012

Variations for Mental Retardation, Autosomal Dominant 52

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

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ASH1L NM_018489.3(ASH1L): c.2170G> T (p.Ala724Ser) single nucleotide variant Pathogenic rs1293246328 1:155450491-155450491 1:155480700-155480700
2 ASH1L ASH1L, VAL2080ILE undetermined variant Pathogenic
3 ASH1L NM_018489.3(ASH1L): c.8854dup (p.Arg2952fs) duplication Pathogenic rs775592405 1:155307492-155307492 1:155337701-155337701
4 ASH1L NM_018489.3(ASH1L): c.3705del (p.Glu1236fs) deletion Pathogenic rs1553265189 1:155448956-155448957 1:155479165-155479166
5 ASH1L NM_018489.3(ASH1L): c.7764_7768dup (p.Asp2590fs) duplication Pathogenic rs1553242856 1:155317482-155317486 1:155347691-155347695
6 ASH1L NM_018489.3(ASH1L): c.6427G> T (p.Glu2143Ter) single nucleotide variant Pathogenic rs1553247374 1:155340680-155340680 1:155370889-155370889
7 ASH1L NM_018489.3(ASH1L): c.8356G> C (p.Ala2786Pro) single nucleotide variant Pathogenic rs1553241570 1:155311831-155311831 1:155342040-155342040
8 ASH1L NM_018489.3(ASH1L): c.2422_2423delinsT (p.Lys808fs) indel Pathogenic rs1553265703 1:155450238-155450239 1:155480447-155480448
9 ASH1L NM_018489.3(ASH1L): c.6803_6804delinsTTCTCA (p.Cys2268fs) indel Pathogenic rs1553245038 1:155327532-155327533 1:155357741-155357742
10 ASH1L NM_018489.3(ASH1L): c.3664_3667del (p.Lys1222fs) deletion Pathogenic 1:155448994-155448997 1:155479204-155479207
11 ASH1L NM_018489.3(ASH1L): c.8156G> A (p.Arg2719His) single nucleotide variant Uncertain significance 1:155313242-155313242 1:155343451-155343451
12 ASH1L NM_018489.3(ASH1L): c.2333G> A (p.Arg778Gln) single nucleotide variant Uncertain significance 1:155450328-155450328 1:155480537-155480537

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

74
# Symbol AA change Variation ID SNP ID
1 ASH1L p.Ala2791Pro VAR_080562 rs155324157

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 MIR555 ASH1L
2
Show member pathways
10.78 MIR555 ASH1L

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
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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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