MCID: ATS008
MIFTS: 46

Autosomal Dominant Disease malady

Summaries for Autosomal Dominant Disease

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63Wikipedia, 32MalaCards
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Wikipedia:63 Dominance in genetics is a relationship between alleles of a single gene, in which one allele is... 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 kidney, liver and endothelial, and related mouse phenotypes are muscle and vision/eye.

Aliases & Classifications for Autosomal Dominant Disease

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8Disease Ontology, 10DISEASES
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Aliases & Descriptions:

autosomal dominant disease 8 10


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Disease Ontology8 DOID:0050736

Related Diseases for Autosomal Dominant Disease

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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 55)
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
46polyneuropathy9.9
47retinal disease9.9
48retinitis9.9
49autosomal dominant hyper ige syndrome9.9
50vestibulocochlear dysfunction, progressive9.9

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



Diseases related to autosomal dominant disease

Clinical Features for Autosomal Dominant Disease

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Drugs & Therapeutics for Autosomal Dominant Disease

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5CenterWatch, 41NIH 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

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Anatomical Context for Autosomal Dominant Disease

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32MalaCards
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MalaCards organs/tissues related to Autosomal Dominant Disease:

32
Kidney, Liver, Endothelial, Bone, Heart, Skin, Testes, T cells, Monocytes, Thyroid, Lung, Spinal cord, Retina, Brain, Pituitary

Animal Models for Autosomal Dominant Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Autosomal Dominant Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.9STK11, PKD1, HMBS, MSX2, ALX4, GATA6
2MP:00053919.7STK11, KRT12, TGFB3, MSX2, ALX4, CPOX
3MP:00053889.7ALX4, TGFB3, PKD2, STK11, GATA6, PKD1
4MP:00053819.5TGFB3, PKD2, PKD1, MSX2, ALX4, STK11
5MP:00028739.5GATA6, TGFB3, ALX4, KRT12, HMBS, NFKBIA
6MP:00053769.4PKD1, ABCC8, WNK4, HMBS, PKD2, STK11
7MP:00107689.4HMBS, PKD1, GATA6, FOXL2, DSG2, NFKBIA

Publications for Autosomal Dominant Disease

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50PubMed
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Articles related to Autosomal Dominant Disease:

(show top 50)    (show all 717)
idTitleAuthorsYear
1
Changing referral characteristics of patients with autosomal dominant polycystic kidney disease. (23830538)
2013
2
Renal Relevant Radiology: Radiologic Imaging in Autosomal Dominant Polycystic Kidney Disease. (24370765)
2013
3
Arterial aneurysms: autosomal dominant polycystic kidney disease, Marfan syndrome or both? (24113780)
2013
4
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. (24095155)
2013
5
Osmoregulation, vasopressin, and cAMP signaling in autosomal dominant polycystic kidney disease. (23736843)
2013
6
Long-term treatment with Mammalian target of rapamycin inhibitor does not benefit patients with autosomal dominant polycystic kidney disease: a meta-analysis. (24022660)
2013
7
Tolvaptan in autosomal dominant polycystic kidney disease. (23534569)
2013
8
On the role of screening for intracranial aneurysms in autosomal dominant polycystic kidney disease. (23436055)
2013
9
Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease. (24194552)
2013
10
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease. (21694639)
2012
11
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. (23064367)
2012
12
A potential salvage therapy for refractory renal cyst infection in patients with autosomal dominant polycystic kidney disease. (22127398)
2012
13
Osteomalacia and insufficiency fracture in a hemodialysis patient with autosomal dominant polycystic kidney disease. (23207124)
2012
14
Refractory Salmonella enterica serotype choleraesuis-related renal cyst infection in a patient with autosomal dominant polycystic kidney disease undergoing hemodialysis treated successfully with intracystic ciprofloxacin infusion. (22710499)
2012
15
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. (22472873)
2012
16
Multifocal renal cell carcinoma of different histological subtypes in autosomal dominant polycystic kidney disease. (23110033)
2012
17
Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa. (21224835)
2011
18
A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family. (21686330)
2011
19
Acquired von Willebrand syndrome type 2A in a JAK2-positive essential thrombocythaemia-affected member of a large von Willebrand disease family with a novel autosomal dominant A1716P mutation. (21359411)
2011
20
Ouabain activates the Na-K-ATPase signalosome to induce autosomal dominant polycystic kidney disease cell proliferation. (21697238)
2011
21
Sirolimus attenuates disease progression in an orthologous mouse model of human autosomal dominant polycystic kidney disease. (20686448)
2010
22
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease. (20386637)
2010
23
Evaluation of nephrolithiasis in autosomal dominant polycystic kidney disease patients. (19339428)
2009
24
Effect of calcium-sensing receptor activation in models of autosomal recessive or dominant polycystic kidney disease. (18826972)
2009
25
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. (18089569)
2008
26
Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). (17879447)
2007
27
Increased occurrence of pericardial effusion in patients with autosomal dominant polycystic kidney disease. (17928471)
2007
28
On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA. (16961073)
2006
29
Research on autosomal dominant polycystic kidney disease in China. (17134592)
2006
30
Sudden death caused by dissecting thoracic aortic aneurysm in a patient with autosomal dominant polycystic kidney disease. (15451591)
2004
31
Renal activation of extracellular signal-regulated kinase in rats with autosomal-dominant polycystic kidney disease. (12631108)
2003
32
Endothelial nitric oxide synthase affects the progression of autosomal dominant polycystic kidney disease. (12077489)
2002
33
Pathology teach and tell: congenital hepatic fibrosis and autosomal dominant polycystic kidney disease. (11486356)
2001
34
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. (11252708)
2000
35
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. (10205271)
1999
36
Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. (9536096)
1998
37
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. (9879677)
1998
38
A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease. (9399046)
1997
39
Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family. (9197578)
1997
40
An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene. (9158217)
1996
41
The association of aldosterone-producing adrenal adenoma in a patient with autosomal dominant polycystic kidney disease. (8172219)
1994
42
Differences in hormonal and renal vascular responses between normotensive patients with autosomal dominant polycystic kidney disease and unaffected family members. (7861706)
1994
43
A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease. (8240107)
1993
44
Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition. (8128981)
1993
45
The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. (1577479)
1992
46
Autosomal dominant polycystic kidney disease: new information for genetic counselling. (1605247)
1992
47
CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel. (1709739)
1991
48
The renin-angiotensin-aldosterone system and autosomal dominant polycystic kidney disease. (2215576)
1990
49
Congenital hepatic fibrosis and adult-type autosomal dominant polycystic kidney disease in a child. (4022899)
1985
50
Hyperkeratosis lenticularis perstans (Flegel). An autosomal dominant skin disease due to lack of a keratinocytic organelle. (4430495)
1974

Genetic Variations for Autosomal Dominant Disease

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Expression for genes affiliated with Autosomal Dominant Disease

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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

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37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 29KEGG
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Pathways related to Autosomal Dominant Disease according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Autosomal Dominant Disease

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB
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Compounds related to Autosomal Dominant Disease according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1trp-p-24410.5PKD2, PKD1
2uroporphyrin4410.5HMBS, CPOX
3uroporphyrinogen-iii4410.4CPOX, HMBS
4protoporphyrinogen4410.4CPOX, HMBS
5formyl-coa44 2411.3HMBS, CPOX
6protoporphyrin ix44 11 2412.3HMBS, CPOX
7salicylic acid44 2811.3CPOX, NFKBIA, ABCC8
8porphyrin4410.2HMBS, CPOX
9arginine4410.1CPOX, NFKBIA, ABCC8, HMBS, KRT12, KRT3
10porphobilinogen44 11 2412.0HMBS, CPOX
11calcium44 49 11 2412.7STK11, PKD2, PKD1, DSC2, DSG2, NFKBIA

GO Terms for genes affiliated with Autosomal Dominant Disease

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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:07221810.6PKD1, PKD2
2mesonephric tubule developmentGO:07216410.6PKD1, PKD2
3mesonephric duct developmentGO:07217710.6PKD2, PKD1
4positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycGO:03165910.6PKD2, PKD1
5frontal suture morphogenesisGO:06036410.6TGFB3, MSX2
6cytoplasmic sequestering of transcription factorGO:04299410.6PKD2, PKD1, NFKBIA
7placenta blood vessel developmentGO:06067410.6PKD2, PKD1
8protoporphyrinogen IX biosynthetic processGO:00678210.6CPOX, HMBS
9detection of mechanical stimulusGO:05098210.5PKD2, PKD1
10bundle of His cell to Purkinje myocyte communicationGO:08606910.5DSG2, DSC2
11digestive tract developmentGO:04856510.5PKD1, TGFB3, ALX4
12outflow tract septum morphogenesisGO:00314810.5GATA6, MSX2
13spinal cord developmentGO:02151010.5PKD1, PKD2
14positive regulation of cell cycle arrestGO:07115810.5PKD2, GATA6
15porphyrin-containing compound metabolic processGO:00677810.5HMBS, CPOX
16liver developmentGO:00188910.5GATA6, PKD2, PKD1
17regulation of ventricular cardiac muscle cell action potentialGO:08600510.4DSG2, DSC2
18regulation of heart rate by cardiac conductionGO:08609110.3DSC2, DSG2
19heme biosynthetic processGO:00678310.3CPOX, HMBS
20cell cycle arrestGO:00705010.3STK11, PKD2, PKD1
21neural tube developmentGO:02191510.2PKD1, PKD2
22negative regulation of cell proliferationGO:00828510.2TGFB3, MSX2, STK11, PKD2
23positive regulation of transcription from RNA polymerase II promoterGO:04594410.1TGFB3, 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:04432510.1PKD2, PKD1, ABCC8
2transcription factor bindingGO:0081349.8FOXL2, GATA6, NFKBIA, MSX2
3protein bindingGO:0055159.2UBIAD1, FOXL2, GATA6, CRYBA1, STK11, PKD2

Products for genes affiliated with Autosomal Dominant Disease

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Sources for Autosomal Dominant Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet