MRD33
MCID: MNT240
MIFTS: 37

Mental Retardation, Autosomal Dominant 33 (MRD33)

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 33

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 33:

Name: Mental Retardation, Autosomal Dominant 33 57 72 29 6
Mrd33 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 33 12 15
Mental Retardation, Autosomal Dominant, Type 33 39
Autosomal Dominant Mental Retardation 33 12

Characteristics:

HPO:

31
mental retardation, autosomal dominant 33:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 33

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 33: 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. MRD33 patients manifest microcephaly and intellectual disability.

MalaCards based summary : Mental Retardation, Autosomal Dominant 33, also known as mrd33, is related to b-lymphoblastic leukemia/lymphoma with etv6-runx1 and monoclonal paraproteinemia. An important gene associated with Mental Retardation, Autosomal Dominant 33 is DPP6 (Dipeptidyl Peptidase Like 6), and among its related pathways/superpathways are NF-kappaB Signaling and JAK-STAT signaling pathway. Related phenotypes are intellectual disability and scoliosis

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DPP6 on chromosome 7q36.2.

More information from OMIM: 616311 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 33

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 33 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 b-lymphoblastic leukemia/lymphoma with etv6-runx1 10.3 P2RY8 ETV6
2 monoclonal paraproteinemia 10.2 PAX5 IGHV4-38-2
3 chromosomal duplication syndrome 10.1 P2RY8 ETV6 CRLF2
4 eye lymphoma 10.1 IGHV4-38-2 CD22
5 chronic conjunctivitis 10.1 TSLP CRLF2
6 refractory hematologic cancer 10.1 CD38 CD22
7 etv6 thrombocytopenia and predisposition to leukemia 10.1 JAK2 ETV6
8 dermatitis, atopic, 5 10.1 TSLP IL7R
9 cebpa-associated familial acute myeloid leukemia 10.1 JAK2 ETV6
10 intraocular lymphoma 10.1 PAX5 IGHV4-38-2
11 testicular leukemia 10.1 ETV6 ABL1
12 b-cell adult acute lymphocytic leukemia 10.1 IKZF1 ABL1
13 gamma heavy chain disease 10.1 IGHV4-38-2 CD38
14 non-secretory myeloma 10.1 IGHV4-38-2 CD38
15 eczema herpeticum 10.1 TSLP IL7R CRLF2
16 childhood b-cell acute lymphoblastic leukemia 10.0 PAX5 P2RY8 IKZF1 CRLF2
17 b-lymphoblastic leukemia/lymphoma with bcr-abl1 10.0 P2RY8 CRLF2 ABL1
18 paranasal sinus lymphoma 10.0 PAX5 MME
19 lung lymphoma 10.0 PAX5 MME
20 smoldering myeloma 10.0 IGHV4-38-2 CD38
21 chromosome 13q14 deletion syndrome 10.0 IGHV4-38-2 CD38
22 gray zone lymphoma 10.0 PAX5 MME
23 acquired polycythemia 10.0 JAK2 ABL1
24 myelophthisic anemia 9.9 JAK2 ABL1
25 precursor t-cell acute lymphoblastic leukemia 9.9 IKZF1 ETV6 ABL1
26 kidney cortex disease 9.9 MME ETV6
27 plasma cell neoplasm 9.9 P2RY8 IL7R IGHV4-38-2
28 gallbladder lymphoma 9.9 PAX5 MME
29 schuurs-hoeijmakers syndrome 9.9 IGHV4-38-2 CD38
30 chest wall lymphoma 9.9 MME IGHV4-38-2
31 adult lymphoma 9.9 MME CD22
32 multicentric castleman disease 9.9 PAX5 CD38
33 waldenstroem's macroglobulinemia 9.9 PAX5 IGHV4-38-2 CD38
34 mental retardation, autosomal dominant 10 9.9 IGHV4-38-2 CD38 CD22
35 nasal cavity lymphoma 9.9 MME IGHV4-38-2
36 b-lymphoblastic leukemia/lymphoma with hypodiploidy 9.9 IGHV4-38-2 ETV6 ABL1
37 kidney benign neoplasm 9.9 MME ETV6
38 pediatric lymphoma 9.9 MME IGHV4-38-2
39 richter's syndrome 9.9 IGHV4-38-2 CD38
40 b-lymphoblastic leukemia/lymphoma, bcr-abl1-like 9.9 JAK2 IKZF1 ABL1
41 invasive malignant thymoma 9.9 MME CD38
42 testicular lymphoma 9.9 MME IGHV4-38-2
43 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 9.8 JAK2 ETV6 ABL1
44 myelodysplastic/myeloproliferative neoplasm 9.8 JAK2 ETV6 ABL1
45 myeloproliferative neoplasm 9.8 JAK2 ETV6 ABL1
46 chronic eosinophilic leukemia 9.8 JAK2 ETV6 ABL1
47 atypical chronic myeloid leukemia 9.8 JAK2 ETV6 ABL1
48 central nervous system leukemia 9.8 MME ABL1
49 leukemia, acute lymphoblastic 3 9.8 PAX5 IKZF1 ETV6 ABL1
50 spherocytosis, type 4 9.8 PAX5 IGHV4-38-2

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 33:



Diseases related to Mental Retardation, Autosomal Dominant 33

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 33

Human phenotypes related to Mental Retardation, Autosomal Dominant 33:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 scoliosis 31 very rare (1%) HP:0002650
3 delayed skeletal maturation 31 very rare (1%) HP:0002750
4 microcephaly 31 very rare (1%) HP:0000252
5 short stature 31 very rare (1%) HP:0004322
6 amblyopia 31 very rare (1%) HP:0000646
7 decreased body weight 31 very rare (1%) HP:0004325
8 hyperactivity 31 very rare (1%) HP:0000752
9 chorioretinal degeneration 31 very rare (1%) HP:0200065

Clinical features from OMIM®:

616311 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 33:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 ABL1 CD22 CD38 CRLF2 ETV6 IKZF1
2 hematopoietic system MP:0005397 9.65 ABL1 CD22 CD38 CRLF2 ETV6 IKZF1
3 immune system MP:0005387 9.36 ABL1 CD22 CD38 CRLF2 ETV6 IKZF1

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 33

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 33

Genetic Tests for Mental Retardation, Autosomal Dominant 33

Genetic tests related to Mental Retardation, Autosomal Dominant 33:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 33 29 DPP6

Anatomical Context for Mental Retardation, Autosomal Dominant 33

Publications for Mental Retardation, Autosomal Dominant 33

Articles related to Mental Retardation, Autosomal Dominant 33:

# Title Authors PMID Year
1
Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation. 57 6
23832105 2013

Variations for Mental Retardation, Autosomal Dominant 33

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 33:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DPP6 and overlap with 1 gene(s) NC_000007.13:g.153649777_153985995del Deletion Pathogenic 189390 GRCh37: 7:153649777-153985995
GRCh38: 7:153952692-154288910
2 DPP6 NM_130797.4(DPP6):c.1153A>C (p.Met385Leu) SNV Pathogenic 189389 rs786205143 GRCh37: 7:154585805-154585805
GRCh38: 7:154794095-154794095
3 DPP6 NM_001039350.3(DPP6):c.19A>G (p.Ile7Val) SNV Uncertain significance 1028479 GRCh37: 7:153584787-153584787
GRCh38: 7:153887702-153887702
4 DPP6 NM_130797.4(DPP6):c.88G>A (p.Gly30Ser) SNV Uncertain significance 1032378 GRCh37: 7:153749993-153749993
GRCh38: 7:154052908-154052908
5 DPP6 NM_130797.4(DPP6):c.1388T>C (p.Ile463Thr) SNV Uncertain significance 523018 rs1554471895 GRCh37: 7:154593153-154593153
GRCh38: 7:154801443-154801443
6 DPP6 NM_130797.4(DPP6):c.627+21101A>G SNV Uncertain significance 802383 rs117574002 GRCh37: 7:154379727-154379727
GRCh38: 7:154588017-154588017
7 DPP6 NM_130797.4(DPP6):c.2304G>C (p.Glu768Asp) SNV Uncertain significance 802384 rs1584993945 GRCh37: 7:154679444-154679444
GRCh38: 7:154887734-154887734
8 DPP6 NM_130797.4(DPP6):c.2304+2T>C SNV Uncertain significance 802385 rs931703283 GRCh37: 7:154679446-154679446
GRCh38: 7:154887736-154887736
9 DPP6 NM_130797.4(DPP6):c.109G>T (p.Gly37Cys) SNV Uncertain significance 930297 GRCh37: 7:153750014-153750014
GRCh38: 7:154052929-154052929

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 33:

72
# Symbol AA change Variation ID SNP ID
1 DPP6 p.Met385Leu VAR_073680 rs786205143

Expression for Mental Retardation, Autosomal Dominant 33

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 33.

Pathways for Mental Retardation, Autosomal Dominant 33

GO Terms for Mental Retardation, Autosomal Dominant 33

Cellular components related to Mental Retardation, Autosomal Dominant 33 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.92 IL7R IGHV4-38-2 CRLF2 CD22

Biological processes related to Mental Retardation, Autosomal Dominant 33 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.65 TSLP JAK2 IL7R CRLF2 CD38
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.63 JAK2 CD38 ABL1
3 B cell receptor signaling pathway GO:0050853 9.61 IGHV4-38-2 CD38 ABL1
4 mesoderm development GO:0007498 9.49 JAK2 IKZF1
5 platelet-derived growth factor receptor signaling pathway GO:0048008 9.48 JAK2 ABL1
6 negative regulation of cell-cell adhesion GO:0022408 9.4 JAK2 ABL1
7 positive regulation of interleukin-5 production GO:0032754 9.37 TSLP CRLF2
8 response to hydroperoxide GO:0033194 9.32 JAK2 CD38
9 positive regulation of mast cell activation GO:0033005 9.16 TSLP CRLF2
10 interleukin-7-mediated signaling pathway GO:0038111 9.13 TSLP IL7R CRLF2
11 positive regulation of STAT cascade GO:1904894 8.8 TSLP IL7R CRLF2

Sources for Mental Retardation, Autosomal Dominant 33

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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