MCID: DGN006
MIFTS: 25

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 retinitis 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 Visual Cycle in Retinal Rods. 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 98)
# Related Disease Score Top Affiliating Genes
1 retinitis 30.2 PRPH2 PDE6B PDE6A NRL
2 cone-rod dystrophy 2 29.8 PRPH2 PDE6B PDE6A NRL CRX
3 retinal degeneration 28.9 USH1C PRPH2 PDE6G PDE6B NRL MYO7A
4 retinitis pigmentosa 27.9 USH1G USH1C PRPH2 PDE6G PDE6B PDE6A
5 pattern dystrophy 10.5 PRPH2 CRX
6 partial central choroid dystrophy 10.5 PRPH2 CRX
7 hereditary choroidal atrophy 10.5 PRPH2 CRX
8 anti-basement membrane glomerulonephritis 10.5 COL4A5 COL4A3
9 night blindness 10.4 PRPH2 PDE6B NRL
10 autosomal dominant alport syndrome 10.4 COL4A5 COL4A3
11 leber congenital amaurosis 4 10.4 PRPH2 PDE6A CRX
12 color blindness 10.4 PDE6B PDE6A CRX
13 autosomal recessive nonsyndromic deafness 3 10.4 MYO7A CDH23
14 fundus albipunctatus 10.4 PRPH2 PDE6B CRX
15 usher syndrome, type ik 10.4 PCDH15 CDH23
16 chromosome 18p deletion syndrome 10.4 SMCHD1 DUX4L7
17 y-linked monogenic disease 10.3 PCDH15 CDH23
18 choroid disease 10.3 PRPH2 PDE6A MYO7A
19 small cell osteogenic sarcoma 10.3 DUX4L8 DUX4L7
20 degeneration of macula and posterior pole 10.3 PRPH2 PDE6B NRL CRX
21 cone dystrophy 10.3 PRPH2 PDE6B PCDH15
22 deafness, autosomal recessive 83 10.3 MYO7A CDH23
23 dfnb1 10.2 PCDH15 MYO7A
24 deafness, autosomal recessive 86 10.2 PCDH15 CDH23
25 synovium cancer 10.2 DUX4L8 DUX4L7 DUX4
26 retinitis pigmentosa 1 10.2 PRPH2 PDE6G PDE6A NRL CRX
27 cone-rod dystrophy 6 10.2 PRPH2 PDE6G PDE6B PDE6A CRX
28 deafness, autosomal dominant 36 10.2 PCDH15 CDH23
29 deafness, autosomal recessive 48 10.2 PCDH15 MYO7A
30 autosomal recessive nonsyndromic deafness 36 10.2 USH1C PCDH15 CDH23
31 deafness, autosomal dominant 20 10.2 USH1G CDH23
32 acute hemorrhagic leukoencephalitis 10.2 USH1G MYO7A CDH23
33 deafness, autosomal recessive 16 10.2 USH1C PCDH15 CDH23
34 autosomal recessive nonsyndromic deafness 10.2 PCDH15 MYO7A CDH23
35 inner ear disease 10.1 MYO7A COL4A5 CDH23
36 deafness, autosomal recessive 30 10.1 PCDH15 MYO7A
37 vestibular disease 10.1 PCDH15 MYO7A CDH23
38 branchiootic syndrome 1 10.1 USH1G MYO7A CDH23
39 small cell sarcoma 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
40 retinal telangiectasia 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
41 extraosseous chondrosarcoma 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
42 kidney clear cell sarcoma 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
43 coats disease 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
44 chondrosarcoma, extraskeletal myxoid 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
45 sarcoma, synovial 10.1 DUX4L8 DUX4L7 DUX4
46 deafness, autosomal dominant 6 10.1 MYO7A CDH23
47 nonsyndromic hearing loss 10.1 PCDH15 MYO7A CDH23
48 rhabdomyosarcoma 2 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
49 bone sarcoma 10.1 DUX4L8 DUX4L7 DUX4L1 DUX4
50 congenital stationary night blindness 10.1 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

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:

45
# 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 9.44 CDH23 COL4A3 COL4A5 CRX MYO7A NRL
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 9.56 USH1C PCDH15 MYO7A CDH23
2 photoreceptor connecting cilium GO:0032391 9.5 USH1G USH1C MYO7A
3 photoreceptor disc membrane GO:0097381 9.46 PDE6G PDE6B PDE6A GNB1
4 photoreceptor outer segment membrane GO:0042622 9.4 PDE6G GNB1
5 collagen type IV trimer GO:0005587 9.37 COL4A5 COL4A3
6 photoreceptor inner segment GO:0001917 9.35 USH1G USH1C PRPH2 MYO7A 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 17)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 10.02 PRPH2 PDE6G PDE6B PDE6A NRL CRX
2 sensory perception of sound GO:0007605 9.85 USH1G USH1C PCDH15 MYO7A COL4A3 CDH23
3 retina development in camera-type eye GO:0060041 9.8 PRPH2 PDE6B PDE6A GNB1
4 photoreceptor cell maintenance GO:0045494 9.73 USH1G USH1C PCDH15 CDH23
5 inner ear morphogenesis GO:0042472 9.72 USH1G USH1C MYO7A
6 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.71 PDE6G PDE6B PDE6A GNB1
7 regulation of cytosolic calcium ion concentration GO:0051480 9.7 PDE6B PDE6A CDH23
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.69 PDE6G PDE6B PDE6A
9 inner ear receptor cell stereocilium organization GO:0060122 9.65 USH1G USH1C PCDH15 MYO7A CDH23
10 inner ear auditory receptor cell differentiation GO:0042491 9.63 USH1C PCDH15 MYO7A
11 rhodopsin mediated signaling pathway GO:0016056 9.62 PDE6G PDE6B PDE6A GNB1
12 visual perception GO:0007601 9.61 PRPH2 PDE6G PDE6B PDE6A PCDH15 NRL
13 auditory receptor cell stereocilium organization GO:0060088 9.57 PCDH15 MYO7A
14 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.56 COL4A5 COL4A3
15 sensory perception of light stimulus GO:0050953 9.55 USH1G USH1C PCDH15 MYO7A CDH23
16 inner ear receptor cell differentiation GO:0060113 9.54 USH1G MYO7A
17 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
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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