Mental Retardation, Autosomal Dominant 36 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases Bone diseases Cardiovascular diseases Skin diseases Ear diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 616362

Disease Ontology ¹² DOID:0070066

Orphanet ⁵⁹ ORPHA457284

MedGen ⁴² C4225352 CN230319

MeSH ⁴⁴ D008607

Sources

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). Affiliated tissues include skin, bone and eye, and related phenotypes are hypertelorism and pectus excavatum

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

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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	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
Autosomal Dominant Mental Retardation 55

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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 29)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³²		HP:0000316
2	pectus excavatum ³²		HP:0000767
3	hydrocephalus ³²		HP:0000238
4	intellectual disability ³²		HP:0001249
5	seizures ³²		HP:0001250
6	muscular hypotonia ³²		HP:0001252
7	global developmental delay ³²		HP:0001263
8	microcephaly ³²	occasional (7.5%)	HP:0000252
9	anteverted nares ³²		HP:0000463
10	visual impairment ³²	very rare (1%)	HP:0000505
11	absent speech ³²		HP:0001344
12	inability to walk ³²	occasional (7.5%)	HP:0002540
13	ventriculomegaly ³²		HP:0002119
14	joint hypermobility ³²		HP:0001382
15	downslanted palpebral fissures ³²		HP:0000494
16	open mouth ³²		HP:0000194
17	tented upper lip vermilion ³²		HP:0010804
18	facial asymmetry ³²		HP:0000324
19	plagiocephaly ³²		HP:0001357
20	prominent metopic ridge ³²		HP:0005487
21	generalized hypotonia ³²		HP:0001290
22	hypoplasia of the corpus callosum ³²		HP:0002079
23	delayed gross motor development ³²		HP:0002194
24	abnormal hair whorl ³²		HP:0010721
25	abnormality of the orbital region ³²		HP:0000315
26	broad hallux ³²		HP:0010055
27	facial hypotonia ³²		HP:0000297
28	delayed myelination ³²		HP:0012448
29	deviation of the 5th finger ³²		HP:0009179

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Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 36

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

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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

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Anatomical Context for Mental Retardation, Autosomal Dominant 36

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 36:

⁴¹

Skin, Bone, Eye

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Publications for Mental Retardation, Autosomal Dominant 36

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Genes for Mental Retardation, Autosomal Dominant 36

Genes related to Mental Retardation, Autosomal Dominant 36 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	1678.43	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25533962 26168268

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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

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Expression for Mental Retardation, Autosomal Dominant 36

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

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Pathways for Mental Retardation, Autosomal Dominant 36

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GO Terms for Mental Retardation, Autosomal Dominant 36

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Sources for Mental Retardation, Autosomal Dominant 36

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Mental Retardation, Autosomal Dominant 36 (MRD36)

Aliases & Classifications for Mental Retardation, Autosomal Dominant 36

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 36:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mental Retardation, Autosomal Dominant 36

Related Diseases for Mental Retardation, Autosomal Dominant 36

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 36

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Mental Retardation, Autosomal Dominant 36:

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 36

Genetic Tests for Mental Retardation, Autosomal Dominant 36

Genetic tests related to Mental Retardation, Autosomal Dominant 36:

Anatomical Context for Mental Retardation, Autosomal Dominant 36

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 36:

Publications for Mental Retardation, Autosomal Dominant 36

Genes for Mental Retardation, Autosomal Dominant 36

Genes related to Mental Retardation, Autosomal Dominant 36 (1 elite genes):

Variations for Mental Retardation, Autosomal Dominant 36

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

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

Expression 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