MCID: DGN006
MIFTS: 23

Digenic Disease

Categories: Genetic diseases

Aliases & Classifications for Digenic Disease

MalaCards integrated aliases for Digenic Disease:

Name: Digenic Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080578

Summaries for Digenic Disease

Disease Ontology : 12 A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes.

MalaCards based summary : Digenic Disease is related to retinitis and retinal degeneration. An important gene associated with Digenic Disease is COL4A3 (Collagen Type IV Alpha 3 Chain), and among its related pathways/superpathways are Signaling by Wnt and Metabolism of fat-soluble vitamins. Affiliated tissues include eye, and related phenotypes are behavior/neurological and cardiovascular system

Related Diseases for Digenic Disease

Diseases related to Digenic Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 retinitis 28.4 PRPH2 PDE6B PDE6A NRL
2 retinal degeneration 27.8 PRPH2 PDE6G PDE6B NRL CRX
3 cone-rod dystrophy 2 27.3 PRPH2 PDE6G PDE6B PDE6A NRL CRX
4 retinitis pigmentosa 26.9 PRPH2 PDE6G PDE6B PDE6A NRL GNB1
5 anti-basement membrane glomerulonephritis 10.3 COL4A5 COL4A3
6 autosomal dominant alport syndrome 10.3 COL4A5 COL4A3
7 hematuria, benign familial 10.2 COL4A5 COL4A3
8 x-linked alport syndrome 10.2 COL4A5 COL4A3
9 pierson syndrome 10.2 COL4A5 COL4A3
10 porencephaly 10.2 COL4A5 COL4A3
11 autosomal recessive alport syndrome 10.2 COL4A5 COL4A3
12 goodpasture syndrome 10.1 COL4A5 COL4A3
13 leiomyomatosis 9.9 COL4A5 COL4A3
14 enhanced s-cone syndrome 9.9 NRL CRX
15 usher syndrome, type iic 9.9 PDE6B PDE6A
16 pattern dystrophy 9.9 PRPH2 CRX
17 joubert syndrome 22 9.8 PRPH2 CRX
18 holoprosencephaly 1 9.8
19 neuroretinitis 9.8
20 alport syndrome 9.8
21 holoprosencephaly 9.8
22 end stage renal failure 9.8
23 choroidal dystrophy, central areolar, 1 9.7 PRPH2 CRX
24 noonan syndrome 4 9.6 PRPH2 PDE6B
25 retinitis pigmentosa 7 9.6 PRPH2 PDE6A
26 leber congenital amaurosis 4 9.5 PRPH2 PDE6A CRX
27 degeneration of macula and posterior pole 9.5 PRPH2 PDE6B CRX
28 night blindness 9.5 PRPH2 PDE6B NRL
29 fundus albipunctatus 9.5 PRPH2 PDE6B CRX
30 leber congenital amaurosis 1 9.4 PRPH2 CRX
31 retinitis pigmentosa 25 9.3 PRPH2 PDE6G PDE6A
32 usher syndrome 9.3 PRPH2 PDE6B PDE6A
33 retinitis pigmentosa 1 9.3 PRPH2 PDE6A NRL CRX
34 stargardt disease 9.2 PRPH2 PDE6B NRL CRX
35 macular degeneration, age-related, 1 9.2 PRPH2 PDE6B NRL CRX
36 eye disease 9.1 PRPH2 PDE6B NRL CRX
37 cone-rod dystrophy 6 8.9 PRPH2 PDE6G PDE6B PDE6A
38 achromatopsia 8.9 PRPH2 PDE6B PDE6A NRL CRX
39 retinal disease 8.8 PRPH2 PDE6B PDE6A NRL CRX
40 congenital stationary night blindness 8.4 PRPH2 PDE6G PDE6B PDE6A NRL CRX
41 fundus dystrophy 8.4 PRPH2 PDE6G PDE6B PDE6A NRL CRX
42 leber congenital amaurosis 8.4 PRPH2 PDE6G PDE6B PDE6A NRL CRX

Graphical network of the top 20 diseases related to Digenic Disease:



Diseases related to Digenic Disease

Symptoms & Phenotypes for Digenic Disease

MGI Mouse Phenotypes related to Digenic Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 COL4A3 CRX GNB1 NRL PDE6A PDE6B
2 cardiovascular system MP:0005385 9.8 COL4A3 COL4A5 CRX PDE6A PDE6B PRPH2
3 nervous system MP:0003631 9.76 CRX GNB1 NRL PDE6A PDE6B PDE6G
4 pigmentation MP:0001186 9.26 CRX NRL PDE6B PRPH2
5 vision/eye MP:0005391 9.23 COL4A3 COL4A5 CRX NRL PDE6A PDE6B

Drugs & Therapeutics for Digenic Disease

Search Clinical Trials , NIH Clinical Center for Digenic Disease

Genetic Tests for Digenic Disease

Anatomical Context for Digenic Disease

MalaCards organs/tissues related to Digenic Disease:

40
Eye

Publications for Digenic Disease

Articles related to Digenic Disease:

(show all 13)
# Title Authors PMID Year
1
Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations. 61
30661074 2019
2
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21. 61
28881388 2018
3
Understanding mutational effects in digenic diseases. 61
28911095 2017
4
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A. 61
27148587 2016
5
Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome. 61
26610373 2016
6
Facioscapulohumeral muscular dystrophy. 61
24882751 2015
7
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. 61
18715141 2009
8
Clinical manifestations of impaired GnRH neuron development and function. 61
18253056 2008
9
Evidence of oligogenic inheritance in nephronophthisis. 61
17855640 2007
10
Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease. 61
17356515 2007
11
Hexose-6-phosphate dehydrogenase confers oxo-reductase activity upon 11 beta-hydroxysteroid dehydrogenase type 1. 61
15956339 2005
12
Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. 61
8943002 1996
13
No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers. 61
8834251 1996

Variations for Digenic Disease

Expression for Digenic Disease

Search GEO for disease gene expression data for Digenic Disease.

Pathways for Digenic Disease

GO Terms for Digenic Disease

Cellular components related to Digenic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment membrane GO:0042622 9.16 PDE6G GNB1
2 collagen type IV trimer GO:0005587 8.96 COL4A5 COL4A3
3 photoreceptor disc membrane GO:0097381 8.92 PDE6G PDE6B PDE6A GNB1

Biological processes related to Digenic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.77 PDE6G PDE6B PDE6A NRL CRX
2 retina development in camera-type eye GO:0060041 9.56 PRPH2 PDE6B PDE6A GNB1
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.5 PDE6G PDE6B PDE6A
4 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.46 PDE6G PDE6B PDE6A GNB1
5 regulation of cytosolic calcium ion concentration GO:0051480 9.43 PDE6B PDE6A
6 visual perception GO:0007601 9.43 PRPH2 PDE6G PDE6B PDE6A NRL CRX
7 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.4 COL4A5 COL4A3
8 rhodopsin mediated signaling pathway GO:0016056 8.92 PDE6G PDE6B PDE6A GNB1

Molecular functions related to Digenic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphoric diester hydrolase activity GO:0008081 9.37 PDE6B PDE6A
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.32 COL4A5 COL4A3
3 spectrin binding GO:0030507 9.26 PDE6G GNB1
4 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.16 PDE6G PDE6B
5 leucine zipper domain binding GO:0043522 8.96 NRL CRX
6 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 8.8 PDE6G PDE6B PDE6A

Sources for Digenic Disease

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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