MRD36
MCID: MNT245
MIFTS: 39

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 56 73 29 6
Mrd36 56 12 73
Autosomal Dominant Non-Syndromic Intellectual Disability 36 12 15
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome 58
Mental Retardation, Autosomal Dominant, Type 36 39
Autosomal Dominant Mental Retardation 36 12

Characteristics:

Orphanet epidemiological data:

58
microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

31
mental retardation, autosomal dominant 36:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, Autosomal Dominant 36

UniProtKB/Swiss-Prot : 73 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, also known as mrd36, is related to glomeruloid hemangioma and solitary osseous plasmacytoma. An important gene associated with Mental Retardation, Autosomal Dominant 36 is PPP2R1A (Protein Phosphatase 2 Scaffold Subunit Aalpha), and among its related pathways/superpathways are NF-kappaB Signaling and Cell adhesion molecules (CAMs). 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.

More information from OMIM: 616362 PS156200

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 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

Diseases related to Mental Retardation, Autosomal Dominant 36 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 glomeruloid hemangioma 10.0 SDC1 PTPRC
2 solitary osseous plasmacytoma 9.9 SDC1 CD38
3 plasmacytoma 9.9 PTPRC CD38
4 non-secretory myeloma 9.9 SDC1 CD38
5 cystadenocarcinoma 9.9 PTPRC PPP2R1A
6 plasmablastic lymphoma 9.9 PTPRC CD38
7 extramedullary plasmacytoma 9.9 SDC1 CD38
8 smoldering myeloma 9.9 SDC1 CD38
9 spherocytosis, type 5 9.9 SDC1 CD38
10 tibial nerve palsy 9.8 PTPRC CD19
11 kabuki syndrome 1 9.7 SDC1 CD38
12 lymphoid interstitial pneumonia 9.7 SDC1 CD19
13 invasive malignant thymoma 9.7 CD38 CD19
14 combined t cell and b cell immunodeficiency 9.7 PTPRC CD19
15 refractory hematologic cancer 9.7 CD38 CD19
16 b cell prolymphocytic leukemia 9.7 CD38 CD19
17 prolymphocytic leukemia 9.7 CD38 CD19
18 hypotrichosis 1 9.7 PTPRC CD19
19 lymphatic system cancer 9.7 PTPRC CD19
20 cll/sll 9.7 CD38 CD19
21 lymphatic system disease 9.6 PTPRC CD19
22 b cell deficiency 9.6 CD38 CD19
23 autoimmune disease of musculoskeletal system 9.6 PTPRC CD19
24 human immunodeficiency virus infectious disease 9.6 PTPRC CD38
25 autoimmune disease of central nervous system 9.6 PTPRC CD19
26 pancytopenia 9.5 PTPRC CD19
27 immune system disease 9.4 PTPRC CD19
28 lymphoma, mucosa-associated lymphoid type 9.4 SDC1 PTPRC CD19
29 lymphoma 9.3 PTPRC CD38 CD19
30 monoclonal paraproteinemia 9.3 SDC1 CD38 CD19
31 waldenstroem's macroglobulinemia 9.3 SDC1 CD38 CD19
32 plasma protein metabolism disease 9.3 SDC1 CD38 CD19
33 monoclonal gammopathy of uncertain significance 9.3 SDC1 CD38 CD19
34 blood protein disease 9.3 SDC1 CD38 CD19
35 peripheral t-cell lymphoma 9.3 PTPRC CD38 CD19
36 blood platelet disease 9.3 PTPRC CD38 CD19
37 autosomal dominant non-syndromic intellectual disability 9.3 PTPRC CD38 CD19
38 severe combined immunodeficiency 9.2 PTPRC CD38 CD19
39 autoimmune lymphoproliferative syndrome 9.2 PTPRC CD19
40 leukemia, chronic myeloid 9.2 PTPRC CD38 CD19
41 leukemia, acute lymphoblastic 9.2 PTPRC CD38 CD19
42 leukemia, acute myeloid 9.1 PTPRC CD38 CD19
43 lymphoplasmacytic lymphoma 8.9 SDC1 PTPRC CD38 CD19
44 mature b-cell neoplasm 8.9 SDC1 PTPRC CD38 CD19
45 bone marrow cancer 8.9 SDC1 PTPRC CD38 CD19
46 leukocyte disease 8.9 SDC1 PTPRC CD38 CD19
47 diffuse large b-cell lymphoma 8.9 SDC1 PTPRC CD38 CD19
48 myeloma, multiple 8.9 SDC1 PTPRC CD38 CD19
49 hematologic cancer 8.9 SDC1 PTPRC CD38 CD19
50 lymphoma, non-hodgkin, familial 8.9 SDC1 PTPRC CD38 CD19

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 36:



Diseases related to Mental Retardation, Autosomal Dominant 36

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 36

Human phenotypes related to Mental Retardation, Autosomal Dominant 36:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 occasional (7.5%) HP:0000252
2 inability to walk 31 occasional (7.5%) HP:0002540
3 visual impairment 31 very rare (1%) HP:0000505
4 hypertelorism 31 HP:0000316
5 pectus excavatum 31 HP:0000767
6 hydrocephalus 31 HP:0000238
7 intellectual disability 31 HP:0001249
8 seizures 31 HP:0001250
9 muscular hypotonia 31 HP:0001252
10 global developmental delay 31 HP:0001263
11 downslanted palpebral fissures 31 HP:0000494
12 delayed gross motor development 31 HP:0002194
13 anteverted nares 31 HP:0000463
14 open mouth 31 HP:0000194
15 generalized hypotonia 31 HP:0001290
16 tented upper lip vermilion 31 HP:0010804
17 absent speech 31 HP:0001344
18 ventriculomegaly 31 HP:0002119
19 abnormal hair whorl 31 HP:0010721
20 facial asymmetry 31 HP:0000324
21 joint hypermobility 31 HP:0001382
22 hypoplasia of the corpus callosum 31 HP:0002079
23 plagiocephaly 31 HP:0001357
24 prominent metopic ridge 31 HP:0005487
25 delayed myelination 31 HP:0012448
26 abnormality of the orbital region 31 HP:0000315
27 broad hallux 31 HP:0010055
28 facial hypotonia 31 HP:0000297
29 deviation of the 5th finger 31 HP:0009179

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 36:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 CD19 CD38 PPP2R1A PTPRC SDC1
2 neoplasm MP:0002006 8.92 CD19 PPP2R1A PTPRC SDC1

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

Articles related to Mental Retardation, Autosomal Dominant 36:

# Title Authors PMID Year
1
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 6 56
26168268 2015
2
Large-scale discovery of novel genetic causes of developmental disorders. 56 6
25533962 2015

Variations for Mental Retardation, Autosomal Dominant 36

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PPP2R1A NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu)SNV Pathogenic 190313 rs786205228 19:52715971-52715971 19:52212718-52212718
2 PPP2R1A NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)SNV Pathogenic 217458 rs863225094 19:52716329-52716329 19:52213076-52213076
3 PPP2R1A NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)SNV Pathogenic/Likely pathogenic 190312 rs786205227 19:52715979-52715979 19:52212726-52212726
4 PPP2R1A NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)SNV Likely pathogenic 376505 rs1057519946 19:52715982-52715982 19:52212729-52212729
5 PPP2R1A NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)SNV Conflicting interpretations of pathogenicity 521503 rs1555791268 19:52716212-52716212 19:52212959-52212959

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

73
# 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

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

Cellular components related to Mental Retardation, Autosomal Dominant 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.72 SDC1 PTPRC PPP2R1A CD38 CD19
2 cell surface GO:0009986 9.43 SDC1 PTPRC CD38
3 secretory granule membrane GO:0030667 9.16 PTPRC CD38
4 external side of plasma membrane GO:0009897 9.13 SDC1 PTPRC CD19
5 extracellular exosome GO:0070062 9.02 SDC1 PTPRC PPP2R1A CD38 CD19

Biological processes related to Mental Retardation, Autosomal Dominant 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to organic substance GO:0010033 9.16 SDC1 PPP2R1A
2 positive regulation of B cell proliferation GO:0030890 8.96 PTPRC CD38
3 B cell receptor signaling pathway GO:0050853 8.8 PTPRC CD38 CD19

Sources for Mental Retardation, Autosomal Dominant 36

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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