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:00053699.9ALX4, MSX2, HMBS, PKD1, STK11, GATA6
2MP:00053919.7FOXL2, CRYBA1, STK11, KRT12, MSX2, ALX4
3MP:00053889.7GATA6, STK11, PKD2, PKD1, ALX4, TGFB3
4MP:00053819.5STK11, PKD2, PKD1, MSX2, ALX4, TGFB3
5MP:00028739.5TGFB3, FOXL2, GATA6, STK11, PKD2, PKD1
6MP:00053769.4PKD2, STK11, GATA6, FOXL2, PKD1, NFKBIA
7MP:00107689.4FOXL2, GATA6, STK11, PKD2, PKD1, DSG2

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
Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene. (24352742)
2014
2
Rapid head growth in a baby with autosomal dominant polycystic kidney disease (ADPKD): Questions. (23732396)
2014
3
Neutrophil-to-lymphocyte ratio, insulin resistance, and endothelial dysfunction in patients with autosomal dominant polycystic kidney disease. (23580803)
2013
4
AA-amyloidosis in autosomal dominant polycystic kidney disease caused by chronic cyst infections lasting for 30 years. (23545677)
2013
5
Commentary on: Tolvaptan in patients with autosomal-dominant polycystic kidney disease. (23375912)
2013
6
Recurrent acute pancreatitis and cholangitis in a patient with autosomal dominant polycystic kidney disease. (23543834)
2013
7
Acute cyst rupture, hemorrhage and septic shock after a shockwave lithotripsy in a patient with autosomal dominant polycystic kidney disease. (23456211)
2013
8
Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1. (23475468)
2013
9
Surgical cyst decortication in autosomal dominant polycystic kidney disease. (23157176)
2013
10
Angiogenesis and autosomal dominant polycystic kidney disease. (22990303)
2013
11
Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic dysplastic kidney. (23413949)
2013
12
One hundred consecutive kidney transplantations with simultaneous ipsilateral nephrectomy in patients with autosomal dominant polycystic kidney disease. (23042709)
2013
13
Diagnosis of cyst infection in patients with autosomal dominant polycystic kidney disease: attributes and limitations of the current modalities. (23114901)
2012
14
Pelvi-ureteric junction obstruction in autosomal-dominant polycystic kidney disease: an association yet to be reported. (22778470)
2012
15
Autosomal dominant polycystic kidney disease with contralateral renal agenesis. (23169372)
2012
16
Vasopressin, copeptin, and renal concentrating capacity in patients with autosomal dominant polycystic kidney disease without renal impairment. (22516290)
2012
17
Acute abdomen and ascites as presenting features of autosomal dominant polycystic kidney disease. (23355918)
2012
18
Disseminated kidney tuberculosis complicating autosomal dominant polycystic kidney disease: a case report. (22377257)
2012
19
Tolvaptan in patients with autosomal dominant polycystic kidney disease. (23121377)
2012
20
Progression of chronic kidney disease. Prevalence of anxiety and depression in autosomal dominant polycystic kidney disease. (22592426)
2012
21
Molecular diagnosis of autosomal dominant polycystic kidney disease. (21270911)
2011
22
Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease. (21796139)
2011
23
Potentially modifiable factors affecting the progression of autosomal dominant polycystic kidney disease. (21088290)
2011
24
The relationship between renal volume and renal function in autosomal dominant polycystic kidney disease. (21431900)
2011
25
Successful peritoneal dialysis after renal transcatheter arterial embolization in autosomal dominant polycystic kidney disease. (22014637)
2011
26
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. (20116073)
2010
27
Colchicine treatment in autosomal dominant polycystic kidney disease: many points in common. (19765912)
2010
28
Nephrolithiasis in autosomal dominant polycystic kidney disease. (20818989)
2010
29
Thrombosis in inferior vena cava due to enlarged renal cysts in autosomal dominant polycystic kidney disease. (20823652)
2010
30
Reduced methotrexate clearance and renal impairment in a boy with osteosarcoma and earlier undetected autosomal dominant polycystic kidney disease (ADPKD). (20921908)
2010
31
Periodontal disease as an early clinical sign of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]. (19859875)
2009
32
Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). (19292934)
2009
33
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). (19089472)
2009
34
Morphological and functional features of hepatic cyst epithelium in autosomal dominant polycystic kidney disease. (18202196)
2008
35
Cardiovascular characterization of Pkd2(+/LacZ) mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2). (17182135)
2007
36
An analysis for the phenotype and genotype of autosomal dominant polycystic kidney disease from two Chinese families]. (16456780)
2006
37
Electrocardiogram in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients without any clinical evidence of coronary artery disease: a case-control study. (16514092)
2006
38
Autosomal dominant polycystic kidney disease showing rupture of a lateral ventral hernia following paralytic ileus. (15897642)
2005
39
Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease. (15184637)
2004
40
Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21. (11576336)
2001
41
Left ventricular hypertrophy in hypertensive patients with autosomal dominant polycystic kidney disease: influence of blood pressure and humoral and neurohormonal factors. (10878400)
2000
42
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease. (10655152)
2000
43
Molecular genetic investigations in autosomal dominant polycystic kidney disease. Gene Mutation detection, linkage analysis, and preliminary ACE gene I/D polymorphism association studies: an update. (9399039)
1997
44
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. (9153451)
1997
45
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. (7581371)
1995
46
Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium). (7633406)
1995
47
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. (8291561)
1993
48
Coexpression of extracellular matrix glycoproteins undulin and tenascin in human autosomal dominant polycystic kidney disease. (7692313)
1993
49
Autosomal dominant polycystic liver disease: a second family. (7116679)
1982
50
Familial Creutzfeldt-Jakob disease. Autosomal dominance in 14 members over 3 generations. (6999131)
1980

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-24410.5PKD1, PKD2
2uroporphyrin4410.5HMBS, CPOX
3uroporphyrinogen-iii4410.4HMBS, CPOX
4protoporphyrinogen4410.4HMBS, CPOX
5formyl-coa44 2411.3HMBS, CPOX
6protoporphyrin ix44 11 2412.3CPOX, HMBS
7salicylic acid44 2811.3CPOX, ABCC8, NFKBIA
8porphyrin4410.2CPOX, HMBS
9arginine4410.1NFKBIA, ABCC8, HMBS, KRT12, KRT3, CPOX
10porphobilinogen44 11 2412.0CPOX, HMBS
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:07221810.6PKD2, 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

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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