MCID: DGN006
MIFTS: 24

Digenic Disease

Categories: Genetic diseases

Aliases & Classifications for Digenic Disease

MalaCards integrated aliases for Digenic Disease:

Name: Digenic Disease 12 15

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 retinal degeneration and cone-rod dystrophy 2. An important gene associated with Digenic Disease is PRPH2 (Peripherin 2), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Digenic Disease

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

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 retinal degeneration 29.2 USH1C PRPH2 PDE6G PDE6B NRL MYO7A
2 cone-rod dystrophy 2 28.8 USH1C PRPH2 PDE6G PDE6B PDE6A PCDH15
3 retinitis pigmentosa 28.4 USH1G USH1C PRPH2 PDE6G PDE6B PDE6A
4 pattern dystrophy 10.4 PRPH2 CRX
5 partial central choroid dystrophy 10.3 PRPH2 CRX
6 hereditary choroidal atrophy 10.3 PRPH2 CRX
7 retinitis pigmentosa 7 10.3 PRPH2 PDE6A GNB1
8 anti-basement membrane glomerulonephritis 10.3 COL4A5 COL4A3
9 retinitis pigmentosa 25 10.3 PRPH2 PDE6G PDE6A
10 hereditary retinal dystrophy 10.3 PRPH2 PDE6A CRX
11 isolated macular dystrophy 10.3 PRPH2 COL4A5
12 usher syndrome, type ik 10.3 PCDH15 CDH23
13 degeneration of macula and posterior pole 10.3 PRPH2 PDE6B CRX
14 vitelliform macular dystrophy 10.3 PRPH2 PDE6A CRX
15 fundus albipunctatus 10.2 PRPH2 PDE6B CRX
16 autosomal recessive nonsyndromic deafness 3 10.2 MYO7A CDH23
17 y-linked monogenic disease 10.2 PCDH15 CDH23
18 acute hemorrhagic leukoencephalitis 10.2 USH1G CDH23
19 autosomal recessive nonsyndromic deafness 36 10.2 USH1C PCDH15
20 deafness, autosomal recessive 83 10.2 MYO7A CDH23
21 conventional central osteosarcoma 10.2 DUX4L8 DUX4L7 DUX4L1
22 deafness, autosomal recessive 86 10.2 PCDH15 CDH23
23 desmoplastic small round cell tumor 10.2 DUX4L8 DUX4L7 DUX4
24 retinoschisis 1, x-linked, juvenile 10.2 NRL MYO7A CRX
25 retinitis pigmentosa 1 10.1 PRPH2 PDE6G PDE6A NRL CRX
26 dfnb1 10.1 PCDH15 MYO7A
27 deafness, autosomal dominant 20 10.1 USH1G CDH23
28 achromatopsia 10.1 PRPH2 PDE6B PDE6A NRL CRX
29 vestibular disease 10.1 PCDH15 MYO7A CDH23
30 branchiootic syndrome 1 10.1 USH1G MYO7A CDH23
31 autosomal recessive nonsyndromic deafness 10.1 PCDH15 MYO7A CDH23
32 small cell sarcoma 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
33 small cell osteogenic sarcoma 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
34 extraosseous chondrosarcoma 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
35 cone-rod dystrophy 6 10.1 PRPH2 PDE6G PDE6B PDE6A PCDH15
36 kidney clear cell sarcoma 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
37 deafness, autosomal recessive 30 10.1 PCDH15 MYO7A
38 synovium cancer 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
39 chondrosarcoma, extraskeletal myxoid 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
40 bone osteosarcoma 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
41 deafness, autosomal recessive 7 10.1 MYO7A CDH23
42 muscle tissue disease 10.0 DUX4L8 DUX4L7 DUX4L1 DUX4
43 muscular disease 10.0 DUX4L8 DUX4L7 DUX4L1 DUX4
44 stickler syndrome 10.0 USH1C PCDH15 COL4A5 CDH23
45 congenital stationary night blindness 10.0 PRPH2 PDE6G PDE6B PDE6A NRL CRX
46 neuromuscular disease 10.0 DUX4L8 DUX4L7 DUX4L1 DUX4
47 deafness, autosomal dominant 6 10.0 MYO7A CDH23
48 nonsyndromic hearing loss 10.0 PCDH15 MYO7A CDH23
49 retinal telangiectasia 10.0 SMCHD1 DUX4L8 DUX4L7 DUX4L1 DUX4
50 macular degeneration, age-related, 1 10.0 PRPH2 PDE6B NRL MYO7A CRX

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



Diseases related to Digenic Disease

Symptoms & Phenotypes for Digenic Disease

GenomeRNAi Phenotypes related to Digenic Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.17 DUX4L7
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.17 DUX4 DUX4L7 DUX4L8
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 9.17 SP4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.17 DUX4L7
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.17 SP4

MGI Mouse Phenotypes related to Digenic Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 CDH23 COL4A3 CRX GNB1 MYO7A NRL
2 nervous system MP:0003631 9.97 CDH23 CRX GNB1 MYO7A NRL PCDH15
3 hearing/vestibular/ear MP:0005377 9.8 CDH23 COL4A3 MYO7A PCDH15 PDE6B USH1C
4 vision/eye MP:0005391 9.47 CDH23 COL4A3 COL4A5 CRX GNB1 MYO7A
5 pigmentation MP:0001186 9.43 CRX MYO7A NRL PDE6B PRPH2 SMCHD1

Drugs & Therapeutics for Digenic Disease

Search Clinical Trials , NIH Clinical Center for Digenic Disease

Genetic Tests for Digenic Disease

Anatomical Context for Digenic Disease

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 stereocilium GO:0032420 9.62 USH1C PCDH15 MYO7A CDH23
2 photoreceptor disc membrane GO:0097381 9.56 PDE6G PDE6B PDE6A GNB1
3 photoreceptor inner segment GO:0001917 9.55 USH1G USH1C PRPH2 MYO7A GNB1
4 photoreceptor connecting cilium GO:0032391 9.54 USH1G USH1C MYO7A
5 collagen type IV trimer GO:0005587 9.4 COL4A5 COL4A3
6 photoreceptor outer segment membrane GO:0042622 9.26 PDE6G PDE6B PDE6A GNB1
7 photoreceptor outer segment GO:0001750 9.1 USH1C PRPH2 PDE6B PCDH15 MYO7A GNB1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 10 PRPH2 PDE6G PDE6B PDE6A NRL CRX
2 sensory perception of sound GO:0007605 9.8 USH1G USH1C PCDH15 MYO7A COL4A3 CDH23
3 retina development in camera-type eye GO:0060041 9.78 PRPH2 PDE6B PDE6A GNB1
4 visual perception GO:0007601 9.76 PRPH2 PDE6G PDE6B PDE6A NRL MYO7A
5 photoreceptor cell maintenance GO:0045494 9.73 USH1G USH1C PCDH15 CDH23
6 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.71 PDE6G PDE6B PDE6A GNB1
7 inner ear morphogenesis GO:0042472 9.69 USH1G USH1C MYO7A
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.67 PDE6G PDE6B PDE6A
9 inner ear receptor cell stereocilium organization GO:0060122 9.67 USH1G USH1C MYO7A CDH23
10 rhodopsin mediated signaling pathway GO:0016056 9.56 PDE6G PDE6B PDE6A GNB1
11 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.55 COL4A5 COL4A3
12 inner ear receptor cell differentiation GO:0060113 9.54 USH1G MYO7A
13 inner ear auditory receptor cell differentiation GO:0042491 9.52 USH1C MYO7A
14 sensory perception of light stimulus GO:0050953 9.35 USH1G USH1C PCDH15 MYO7A CDH23
15 equilibrioception GO:0050957 9.02 USH1G USH1C PCDH15 MYO7A CDH23

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

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.33 PDE6G PDE6B PDE6A
2 leucine zipper domain binding GO:0043522 9.26 NRL CRX
3 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.13 PDE6G PDE6B PDE6A
4 spectrin binding GO:0030507 9.02 USH1G USH1C PDE6G MYO7A GNB1

Sources for Digenic Disease

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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