MCID: ATS008
MIFTS: 45

Autosomal Dominant Disease malady

Summaries for Autosomal Dominant Disease

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64Wikipedia, 33MalaCards
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Wikipedia:64 Dominance in genetics is a relationship between alleles of a single gene, in which one allele masks the... more...

MalaCards: Autosomal Dominant Disease is related to polycystic kidney disease, type 2 and polycystic kidney disease. An important gene associated with Autosomal Dominant Disease is CRYBA1 (crystallin, beta A1), and among its related pathways are Heme Biosynthesis and Development Leptin signaling via PI3K-dependent pathway. The compounds trp-p-2 and uroporphyrin have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spinal cord, and related mouse phenotypes are muscle and vision/eye.

Aliases & Classifications for Autosomal Dominant Disease

Sources:
8Disease Ontology, 10DISEASES
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Aliases & Descriptions:

autosomal dominant disease 8 10


External Ids:

Disease Ontology8 DOID:0050736

Related Diseases for Autosomal Dominant Disease

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Autosomal Dominant Disease family:

autosomal recessive disease

Diseases related to Autosomal Dominant Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic kidney disease, type 229.9PKD1, PKD2
2polycystic kidney disease29.9PKD2, PKD1
3autosomal genetic disease10.1
4parietal foramina 110.0MSX2
5polycystic kidney disease, autosomal dominant10.0PKD1, PKD2
6enlarged parietal foramina10.0MSX2, ALX4
7meesmann corneal dystrophy10.0KRT12, KRT3
8nephronophthisis10.0PKD1, PKD2
9congenital porphyria10.0HMBS, CPOX
10hereditary coproporphyria10.0HMBS, CPOX
11adenoma10.0STK11, GATA6
12acute porphyria10.0HMBS, CPOX
13variegate porphyria10.0HMBS, CPOX
14corneal disease10.0KRT3, KRT12
15arrhythmogenic right ventricular dysplasia10.0DSG2, DSC2, TGFB3
16corneal dystrophy10.0KRT3, KRT12, UBIAD1
17acute intermittent porphyria10.0HMBS, CPOX
18ischemia10.0ABCC8, STK11
19erythropoietic protoporphyria10.0CPOX
20polycystic kidney disease, autosomal recessive10.0PKD2, PKD1
21polycystic liver disease10.0PKD2, PKD1
22adenocarcinoma10.0HMBS, TGFB3, NFKBIA, GATA6, STK11
23cystic kidney10.0PKD2, PKD1
24squamous cell carcinoma10.0DSC2, STK11, DSG2, NFKBIA, TGFB3, KRT3
25breast cancer10.0NFKBIA, HMBS, MSX2, PKD1, CPOX, TGFB3
26cystic fibrosis10.0ABCC8, PKD1
27stomach cancer10.0CPOX, TGFB3, NFKBIA, GATA6, STK11, DSG2
28mccune albright syndrome9.9
29larsen syndrome9.9
30trichorhinophalangeal syndrome type i9.9
31ladd syndrome9.9
32familial adenomatous polyposis9.9
33sugio-kajii syndrome9.9
34branchiooculofacial syndrome9.9
35retinitis pigmentosa9.9
36timothy syndrome9.9
37adult syndrome9.9
38fibrodysplasia ossificans progressiva9.9
39tarsal-carpal coalition syndrome9.9
40proximal symphalangism9.9
41juvenile polyposis syndrome9.9
42iridogoniodysgenesis syndrome9.9
43denys-drash syndrome9.9
44short qt syndrome9.9
45multiple cutaneous and mucosal venous malformations9.9
46vestibulocochlear dysfunction, progressive9.9
47keratosis focal palmoplantar gingival9.9
48polycystic kidney disease, type 19.9
49corneal fleck dystrophy9.9
50pseudohypoaldosteronism type iid9.9

Graphical network of the top 20 diseases related to Autosomal Dominant Disease:



Diseases related to autosomal dominant disease

Clinical Features for Autosomal Dominant Disease

Drugs & Therapeutics for Autosomal Dominant Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Autosomal Dominant Disease

Drug clinical trials:

Search ClinicalTrials for Autosomal Dominant Disease

Search NIH Clinical Center for Autosomal Dominant Disease

Search CenterWatch for Autosomal Dominant Disease

Genetic Tests for Autosomal Dominant Disease

Anatomical Context for Autosomal Dominant Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Autosomal Dominant Disease:

33
Skin, Liver, Spinal cord, Brain, Kidney, Lung, Retina, Heart, Thyroid, Monocytes, T cells, B cells, Endothelial, Fetal brain, Ciliary ganglion, Fetal liver, Fetal lung, Fetal thyroid, Pituitary

Animal Models for Autosomal Dominant Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Autosomal Dominant Disease

Sources:
51PubMed
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Articles related to Autosomal Dominant Disease:

(show top 50)    (show all 718)
idTitleAuthorsYear
1
Rationale and Design of the DIPAK 1 Study: A Randomized Controlled Clinical Trial Assessing the Efficacy of Lanreotide to Halt Disease Progression in Autosomal Dominant Polycystic Kidney Disease. (24342522)
2013
2
Cardiovascular complications in autosomal dominant polycystic kidney disease. (23971638)
2013
3
Autosomal dominant polycystic kidney disease: recent advances in pathogenesis and potential therapies. (23192769)
2013
4
The natural history of autosomal dominant polycystic kidney disease: 30-year experience from a single centre. (23587574)
2013
5
Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion. (23343310)
2013
6
Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation. (21744088)
2012
7
A case of severe aortic valve regurgitation caused by an ascending aortic aneurysm in a young patient with autosomal dominant polycystic kidney disease and normal renal function. (22396705)
2012
8
Insulin resistance and coronary flow velocity reserve in patients with autosomal dominant polycystic kidney disease. (21118411)
2012
9
Revascularization and rescue of a failed kidney transplant in a case of autosomal dominant polycystic kidney disease. (22516889)
2012
10
Network analysis of a Pkd1-mouse model of autosomal dominant polycystic kidney disease identifies HNF4I+ as a disease modifier. (23209428)
2012
11
Caffeine intake by patients with autosomal dominant polycystic kidney disease. (22801417)
2012
12
Autosomal dominant polycystic kidney disease and hypertension are associated with left ventricular mass in a gender-dependent manner. (23235185)
2012
13
Ectopic, polycystic and stoned: pelvic kidney in a patient with autosomal dominant polycystic kidney disease. (22143132)
2012
14
Kidney volume changes in patients with autosomal dominant polycystic kidney disease after renal transplantation. (22491657)
2012
15
Impairment of heart rate recovery index in autosomal-dominant polycystic kidney disease patients without hypertension. (22545873)
2012
16
Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease. (22415584)
2012
17
Putative mutation of PKD1 gene responsible for autosomal dominant polycystic kidney disease in a Chinese family. (21332816)
2011
18
Native nephrectomy for autosomal dominant polycystic kidney disease: before or after kidney transplantation? (21166760)
2011
19
Hyperbaric oxygen therapy in a patient with autosomal dominant polycystic kidney disease with a perinephritic abscess. (20886361)
2011
20
mTOR inhibitors and autosomal dominant polycystic kidney disease. (21247328)
2011
21
Failure to ubiquitinate c-Met leads to hyperactivation of mTOR signaling in a mouse model of autosomal dominant polycystic kidney disease. (20852388)
2010
22
Polycystic kidney disease: Promising new potential therapies for patients with autosomal dominant polycystic kidney disease. (20690198)
2010
23
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. (19346236)
2009
24
Usefulness of combined genetic data in Hungarian families affected by autosomal dominant polycystic kidney disease. (19056484)
2009
25
Activation of AMP-activated kinase as a strategy for managing autosomal dominant polycystic kidney disease. (19570618)
2009
26
Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications. (19286880)
2009
27
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant. (19694022)
2009
28
A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease. (17891520)
2008
29
A promoter polymorphism of the alpha 8 integrin gene and the progression of autosomal-dominant polycystic kidney disease. (18277079)
2008
30
Variation in age at ESRD in autosomal dominant polycystic kidney disease. (18215695)
2008
31
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. (18231710)
2008
32
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease. (16430766)
2006
33
DNA microsatellite analysis in families with autosomal dominant polycystic kidney disease (ADPKD): the first Polish study. (17132904)
2006
34
Role of keratinocyte growth factor in the pathogenesis of autosomal dominant polycystic kidney disease. (16141466)
2005
35
Mutations in SEC63 cause autosomal dominant polycystic liver disease. (15133510)
2004
36
Bile duct cysts in a patient with autosomal dominant polycystic kidney disease. (14722571)
2004
37
Expression and cellular localisation of renal endothelin-1 and endothelin receptor subtypes in autosomal-dominant polycystic kidney disease. (12629276)
2003
38
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients. (12007219)
2002
39
Overexpression of semicarbazide sensitive amine oxidase in the cerebral blood vessels in patients with Alzheimer's disease and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. (11872247)
2002
40
Caspases, Bcl-2 proteins and apoptosis in autosomal-dominant polycystic kidney disease. (11918728)
2002
41
Von Hippel-Lindau disease masquerading as autosomal dominant polycystic kidney disease. (11273887)
2001
42
Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. (11741829)
2001
43
Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). (10602361)
1999
44
Autosomal dominant polycystic kidney disease: clinical and genetic aspects. (9442442)
1997
45
Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene. (8911610)
1996
46
A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1). (9025084)
1996
47
Autosomal dominant polycystic liver disease as an etiology for hemoperitoneum during CCPD. (8785237)
1995
48
A transducin-like gene maps to the autosomal dominant polycystic kidney disease gene region. (8307582)
1993
49
Progression rate and age at onset are related in autosomal dominant neurologic diseases. (6212773)
1982
50
Autosomal dominant inheritance in adiposis dolorosa (Dercum's disease). (4721343)
1973

Genetic Variations for Autosomal Dominant Disease

Expression for genes affiliated with Autosomal Dominant Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Dominant Disease

Search GEO for disease gene expression data for Autosomal Dominant Disease.

Pathways for genes affiliated with Autosomal Dominant Disease

Sources:
38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 30KEGG
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Pathways related to Autosomal Dominant Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3CPOX, HMBS
2
Development Leptin signaling via PI3K-dependent pathway
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10.2ABCC8, NFKBIA, STK11
3
Hide members
10.1TGFB3, DSG2, DSC2

Compounds for genes affiliated with Autosomal Dominant Disease

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 50PharmGKB
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Compounds related to Autosomal Dominant Disease according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1trp-p-24510.5PKD1, PKD2
2uroporphyrin4510.5HMBS, CPOX
3uroporphyrinogen-iii4510.4HMBS, CPOX
4protoporphyrinogen4510.4HMBS, CPOX
5formyl-coa45 2411.3HMBS, CPOX
6protoporphyrin ix45 11 2412.3CPOX, HMBS
7salicylic acid45 2911.3CPOX, ABCC8, NFKBIA
8porphyrin4510.2CPOX, HMBS
9arginine4510.1NFKBIA, ABCC8, HMBS, KRT12, KRT3, CPOX
10porphobilinogen45 11 2412.0CPOX, HMBS
11calcium45 50 11 2412.7STK11, PKD2, PKD1, DSC2, DSG2, NFKBIA

GO Terms for genes affiliated with Autosomal Dominant Disease

Sources:
16Gene Ontology
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Cellular components related to Autosomal Dominant Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1polycystin complexGO:00213310.3PKD1, PKD2
2desmosomeGO:03005710.2DSG2, DSC2
3motile primary ciliumGO:03151210.0PKD1, PKD2
4transcription factor complexGO:00566710.0FOXL2, GATA6, MSX2, ALX4

Biological processes related to Autosomal Dominant Disease according to GeneCards/GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1metanephric ascending thin limb developmentGO:07221810.6PKD2, PKD1
2mesonephric tubule developmentGO:07216410.6PKD2, PKD1
3mesonephric duct developmentGO:07217710.6PKD1, PKD2
4positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:03165910.6PKD2, PKD1
5placenta blood vessel developmentGO:06067410.6PKD2, PKD1
6cytoplasmic sequestering of transcription factorGO:04299410.6NFKBIA, PKD1, PKD2
7frontal suture morphogenesisGO:06036410.6MSX2, TGFB3
8protoporphyrinogen IX biosynthetic processGO:00678210.6HMBS, CPOX
9detection of mechanical stimulusGO:05098210.5PKD1, PKD2
10bundle of His cell to Purkinje myocyte communicationGO:08606910.5DSC2, DSG2
11digestive tract developmentGO:04856510.5TGFB3, ALX4, PKD1
12outflow tract septum morphogenesisGO:00314810.5MSX2, GATA6
13spinal cord developmentGO:02151010.5PKD2, PKD1
14positive regulation of cell cycle arrestGO:07115810.5GATA6, PKD2
15porphyrin-containing compound metabolic processGO:00677810.5CPOX, HMBS
16liver developmentGO:00188910.5PKD1, PKD2, GATA6
17regulation of ventricular cardiac muscle cell action potentialGO:08600510.4DSG2, DSC2
18regulation of heart rate by cardiac conductionGO:08609110.3DSC2, DSG2
19heme biosynthetic processGO:00678310.3HMBS, CPOX
20cell cycle arrestGO:00705010.3PKD1, PKD2, STK11
21neural tube developmentGO:02191510.2PKD1, PKD2
22negative regulation of cell proliferationGO:00828510.2STK11, PKD2, MSX2, TGFB3
23positive regulation of transcription from RNA polymerase II promoterGO:04594410.1FOXL2, GATA6, PKD2, PKD1, NFKBIA, ALX4
24homophilic cell adhesionGO:00715610.1DSG2, DSC2, PKD1
25calcium ion transmembrane transportGO:07058810.0PKD1, PKD2

Molecular functions related to Autosomal Dominant Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:04432510.1ABCC8, PKD1, PKD2
2transcription factor bindingGO:0081349.8FOXL2, GATA6, NFKBIA, MSX2
3protein bindingGO:0055159.2FOXL2, GATA6, CRYBA1, STK11, PKD2, PKD1

Products for genes affiliated with Autosomal Dominant Disease

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Sources for Autosomal Dominant Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet