MRD36
MCID: MNT245
MIFTS: 22

Mental Retardation, Autosomal Dominant 36 (MRD36)

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 36

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 36:

Name: Mental Retardation, Autosomal Dominant 36 58 76 30 6
Mrd36 58 12 76
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome 60
Autosomal Dominant Non-Syndromic Intellectual Disability 36 12
Mental Retardation, Autosomal Dominant, Type 36 41
Autosomal Dominant Mental Retardation 36 12

Characteristics:

Orphanet epidemiological data:

60
microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

33
mental retardation, autosomal dominant 36:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 36

UniProtKB/Swiss-Prot : 76 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 microcephaly and inability to walk

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 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 36

Human phenotypes related to Mental Retardation, Autosomal Dominant 36:

33 (show all 29)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 occasional (7.5%) HP:0000252
2 inability to walk 33 occasional (7.5%) HP:0002540
3 visual impairment 33 very rare (1%) HP:0000505
4 hypertelorism 33 HP:0000316
5 pectus excavatum 33 HP:0000767
6 hydrocephalus 33 HP:0000238
7 intellectual disability 33 HP:0001249
8 seizures 33 HP:0001250
9 muscular hypotonia 33 HP:0001252
10 global developmental delay 33 HP:0001263
11 anteverted nares 33 HP:0000463
12 absent speech 33 HP:0001344
13 ventriculomegaly 33 HP:0002119
14 joint hypermobility 33 HP:0001382
15 downslanted palpebral fissures 33 HP:0000494
16 open mouth 33 HP:0000194
17 tented upper lip vermilion 33 HP:0010804
18 facial asymmetry 33 HP:0000324
19 plagiocephaly 33 HP:0001357
20 prominent metopic ridge 33 HP:0005487
21 generalized hypotonia 33 HP:0001290
22 hypoplasia of the corpus callosum 33 HP:0002079
23 delayed gross motor development 33 HP:0002194
24 abnormal hair whorl 33 HP:0010721
25 abnormality of the orbital region 33 HP:0000315
26 broad hallux 33 HP:0010055
27 facial hypotonia 33 HP:0000297
28 delayed myelination 33 HP:0012448
29 deviation of the 5th finger 33 HP:0009179

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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:

76
# 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

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75 UMLS via Orphanet
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