MRD10
MCID: MNT186
MIFTS: 30

Mental Retardation, Autosomal Dominant 10 (MRD10)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 10

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 10:

Name: Mental Retardation, Autosomal Dominant 10 57 72 29 13 6 70
Mrd10 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 10 12 15
Mental Retardation, Autosomal Dominant, Type 10 39
Autosomal Dominant Mental Retardation 10 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
limited clinical information provided on 1 male patient


HPO:

31
mental retardation, autosomal dominant 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070040
OMIM® 57 614256
OMIM Phenotypic Series 57 PS156200
MeSH 44 D008607
MedGen 41 C3280284
UMLS 70 C3280284

Summaries for Mental Retardation, Autosomal Dominant 10

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 10: 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 10, also known as mrd10, is related to eye lymphoma and composite lymphoma. An important gene associated with Mental Retardation, Autosomal Dominant 10 is CACNG2 (Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2), and among its related pathways/superpathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Hematopoietic cell lineage. Affiliated tissues include brain, and related phenotypes are intellectual disability and intellectual disability, moderate

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CACNG2 on chromosome 22q12.3.

More information from OMIM: 614256 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 10

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 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 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 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 Recessive 48
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 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 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 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 eye lymphoma 10.1 IGHV4-38-2 CD22
2 composite lymphoma 10.1 IGHV4-38-2 CD22
3 mobitz type ii atrioventricular block 10.1 REM1 CD34
4 invasive malignant thymoma 10.1 CD38 CD34
5 spleen cancer 10.0 IGHV4-38-2 CD22
6 orbital granuloma 10.0 CD34 CD22
7 refractory hematologic cancer 10.0 CD38 CD22
8 uterine corpus sarcoma 10.0 CD38 CD34
9 chromosome 13q14 deletion syndrome 10.0 IGHV4-38-2 CD38
10 schuurs-hoeijmakers syndrome 10.0 IGHV4-38-2 CD38
11 mental retardation, autosomal dominant 40 10.0 HLA-A CD34
12 richter's syndrome 10.0 IGHV4-38-2 CD38
13 capillary disease 10.0 CD34 CD22
14 monoclonal paraproteinemia 9.9 SDC1 IGHV4-38-2
15 hemorrhagic cystitis 9.9 HLA-A CD34
16 tracheal lymphoma 9.9 SDC1 IGHV4-38-2
17 parasagittal meningioma 9.9 SDC1 CD34
18 glomeruloid hemangioma 9.9 SDC1 CD34
19 nasal cavity benign neoplasm 9.9 SDC1 CD34
20 mental retardation, autosomal dominant 33 9.9 IGHV4-38-2 CD38 CD22
21 adenoid squamous cell carcinoma 9.9 SDC1 CD34
22 cll/sll 9.9 IGHV4-38-2 CD38 CD22
23 splenic disease 9.9 IGHV4-38-2 CD22
24 solitary osseous plasmacytoma 9.9 SDC1 CD38
25 mental retardation, autosomal dominant 36 9.8 SDC1 CD38
26 extramedullary plasmacytoma 9.8 SDC1 CD38
27 mulchandani-bhoj-conlin syndrome 9.7 SDC1 CD38
28 autosomal dominant non-syndromic intellectual disability 9.7 IGHV4-38-2 CD38 CACNG2
29 marginal zone b-cell lymphoma 9.7 SDC1 IGHV4-38-2 CD22
30 gamma heavy chain disease 9.7 SDC1 IGHV4-38-2 CD38
31 lymphoma, mucosa-associated lymphoid type 9.7 SDC1 IGHV4-38-2 CD22
32 non-secretory myeloma 9.7 SDC1 IGHV4-38-2 CD38
33 smoldering myeloma 9.7 SDC1 IGHV4-38-2 CD38
34 plasma protein metabolism disease 9.7 SDC1 IGHV4-38-2 CD38
35 hereditary spherocytosis 9.7 SDC1 IGHV4-38-2 CD34
36 monoclonal gammopathy of uncertain significance 9.7 SDC1 IGHV4-38-2 CD38
37 waldenstroem's macroglobulinemia 9.7 SDC1 IGHV4-38-2 CD38
38 multicentric castleman disease 9.7 SDC1 CD38
39 kabuki syndrome 1 9.7 SDC1 IGHV4-38-2 CD38
40 spherocytosis, type 5 9.6 SDC1 CD38 CD34
41 leukemia, acute lymphoblastic 9.6 IGHV4-38-2 CD38 CD34 CD22
42 plasma cell leukemia 9.5 SDC1 CD38
43 blood protein disease 9.5 SDC1 IGHV4-38-2 CD38 CD34
44 leukocyte disease 9.5 SDC1 IGHV4-38-2 CD38 CD34
45 bone marrow cancer 9.5 SDC1 IGHV4-38-2 CD38 CD34
46 lymphoplasmacytic lymphoma 9.4 SDC1 IGHV4-38-2 CD38 CD22
47 mature b-cell neoplasm 9.4 SDC1 IGHV4-38-2 CD38 CD22
48 myeloma, multiple 9.4 SDC1 IGHV4-38-2 CD38 CD34
49 leukemia, acute myeloid 9.3 IGHV4-38-2 HLA-A CD38 CD34 CD22
50 leukemia, chronic lymphocytic 9.2 SDC1 IGHV4-38-2 CD38 CD34 CD22

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 10:



Diseases related to Mental Retardation, Autosomal Dominant 10

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 10

Human phenotypes related to Mental Retardation, Autosomal Dominant 10:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 intellectual disability, moderate 31 HP:0002342

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
mental retardation, moderate
normal brain imaging

Clinical features from OMIM®:

614256 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 10

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 10

Genetic Tests for Mental Retardation, Autosomal Dominant 10

Genetic tests related to Mental Retardation, Autosomal Dominant 10:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 10 29 CACNG2

Anatomical Context for Mental Retardation, Autosomal Dominant 10

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 10:

40
Brain

Publications for Mental Retardation, Autosomal Dominant 10

Articles related to Mental Retardation, Autosomal Dominant 10:

# Title Authors PMID Year
1
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 6 57
21376300 2011

Variations for Mental Retardation, Autosomal Dominant 10

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNG2 CACNG2, VAL143LEU SNV Pathogenic 30282 GRCh37:
GRCh38:
2 CACNG2 NM_006078.5(CACNG2):c.298G>T (p.Ala100Ser) SNV Uncertain significance 931257 GRCh37: 22:36962538-36962538
GRCh38: 22:36566491-36566491

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 10:

72
# Symbol AA change Variation ID SNP ID
1 CACNG2 p.Val143Leu VAR_066599

Expression for Mental Retardation, Autosomal Dominant 10

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 10.

Pathways for Mental Retardation, Autosomal Dominant 10

GO Terms for Mental Retardation, Autosomal Dominant 10

Cellular components related to Mental Retardation, Autosomal Dominant 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.26 SDC1 IGHV4-38-2 CD34 CD22
2 cell surface GO:0009986 9.1 SDC1 HLA-A CD38 CD34 CD22 CACNG2

Biological processes related to Mental Retardation, Autosomal Dominant 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to calcium ion GO:0051592 8.96 SDC1 CACNG2
2 regulation of immune response GO:0050776 8.8 HLA-A CD34 CD22

Sources for Mental Retardation, Autosomal Dominant 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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