MCID: MNT245
MIFTS: 22

Mental Retardation, Autosomal Dominant 36

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 36

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 36:

Name: Mental Retardation, Autosomal Dominant 36 57 75 29 6
Mrd36 57 12 75
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome 59
Autosomal Dominant Non-Syndromic Intellectual Disability 36 12
Mental Retardation, Autosomal Dominant, Type 36 40
Autosomal Dominant Mental Retardation 36 12

Characteristics:

Orphanet epidemiological data:

59
microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

32
mental retardation, autosomal dominant 36:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 36

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 36: 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 36, is also known as mrd36. An important gene associated with Mental Retardation, Autosomal Dominant 36 is PPP2R1A (Protein Phosphatase 2 Scaffold Subunit Aalpha). Related phenotypes are open mouth and hydrocephalus

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R1A on chromosome 19q13.41.

Description from OMIM: 616362

Related Diseases for Mental Retardation, Autosomal Dominant 36

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 36

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
open mouth
tented upper lip

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly (in some patients)

Growth Height:
increased height (in some patients)

Neurologic Central Nervous System:
delayed myelination
enlarged ventricles
seizures (in some patients)
hypoplasia or agenesis of the corpus callosum
delayed psychomotor development, severe
more
Head And Neck Eyes:
downslanting palpebral fissures
hypertelorism, mild

Head And Neck Face:
hypotonic facies


Clinical features from OMIM:

616362

Human phenotypes related to Mental Retardation, Autosomal Dominant 36:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 open mouth 32 HP:0000194
2 hydrocephalus 32 HP:0000238
3 microcephaly 32 occasional (7.5%) HP:0000252
4 facial hypotonia 32 HP:0000297
5 abnormality of the orbital region 32 HP:0000315
6 hypertelorism 32 HP:0000316
7 facial asymmetry 32 HP:0000324
8 anteverted nares 32 HP:0000463
9 downslanted palpebral fissures 32 HP:0000494
10 pectus excavatum 32 HP:0000767
11 intellectual disability 32 HP:0001249
12 seizures 32 HP:0001250
13 muscular hypotonia 32 HP:0001252
14 global developmental delay 32 HP:0001263
15 generalized hypotonia 32 HP:0001290
16 plagiocephaly 32 HP:0001357
17 joint hypermobility 32 HP:0001382
18 hypoplasia of the corpus callosum 32 HP:0002079
19 ventriculomegaly 32 HP:0002119
20 delayed gross motor development 32 HP:0002194
21 inability to walk 32 occasional (7.5%) HP:0002540
22 prominent metopic ridge 32 HP:0005487
23 congenital visual impairment 32 HP:0007758
24 deviation of the 5th finger 32 HP:0009179
25 broad hallux 32 HP:0010055
26 abnormal hair whorl 32 HP:0010721
27 tented upper lip vermilion 32 HP:0010804
28 delayed myelination 32 HP:0012448

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 36

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 36

Genetic Tests for Mental Retardation, Autosomal Dominant 36

Genetic tests related to Mental Retardation, Autosomal Dominant 36:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 36 29 PPP2R1A

Anatomical Context for Mental Retardation, Autosomal Dominant 36

Publications for Mental Retardation, Autosomal Dominant 36

Variations for Mental Retardation, Autosomal Dominant 36

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 36:

75
# Symbol AA change Variation ID SNP ID
1 PPP2R1A p.Val132Leu VAR_073718
2 PPP2R1A p.Pro179Leu VAR_074488 rs786205228
3 PPP2R1A p.Arg182Trp VAR_074489 rs786205227
4 PPP2R1A p.Arg258His VAR_074490 rs863225094

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 36:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PPP2R1A NM_014225.5(PPP2R1A): c.544C> T (p.Arg182Trp) single nucleotide variant Pathogenic rs786205227 GRCh38 Chromosome 19, 52212726: 52212726
2 PPP2R1A NM_014225.5(PPP2R1A): c.544C> T (p.Arg182Trp) single nucleotide variant Pathogenic rs786205227 GRCh37 Chromosome 19, 52715979: 52715979
3 PPP2R1A NM_014225.5(PPP2R1A): c.536C> T (p.Pro179Leu) single nucleotide variant Pathogenic rs786205228 GRCh38 Chromosome 19, 52212718: 52212718
4 PPP2R1A NM_014225.5(PPP2R1A): c.536C> T (p.Pro179Leu) single nucleotide variant Pathogenic rs786205228 GRCh37 Chromosome 19, 52715971: 52715971
5 PPP2R1A NM_014225.5(PPP2R1A): c.773G> A (p.Arg258His) single nucleotide variant Pathogenic rs863225094 GRCh37 Chromosome 19, 52716329: 52716329
6 PPP2R1A NM_014225.5(PPP2R1A): c.773G> A (p.Arg258His) single nucleotide variant Pathogenic rs863225094 GRCh38 Chromosome 19, 52213076: 52213076

Expression for Mental Retardation, Autosomal Dominant 36

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 36.

Pathways for Mental Retardation, Autosomal Dominant 36

GO Terms for Mental Retardation, Autosomal Dominant 36

Sources for Mental Retardation, Autosomal Dominant 36

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
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
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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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