Autosomal Dominant Disease malady

Wikipedia: Dominance in genetics is a relationship between alleles of a gene, in which one allele masks the...⁴⁴ more...

MalaCards: Autosomal Dominant Disease is related to polycystic kidney disease 2, autosomal dominant and polycystic kidney disease, autosomal dominant. An important gene associated with Autosomal Dominant Disease is CRYBA1 (crystallin, beta A1), and among its related pathways are Porphyrin and chlorophyll metabolism and Antiarrhythmic Pathway, Pharmacodynamics. The compounds trp-p-2 and protoporphyrin ix have been mentioned in the context of this disorder. Related mouse phenotypes are hematopoietic system and limbs/digits/tail.

autosomal dominant disease 6

Diseases related to autosomal dominant disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 91)

id	Related Disease	Score	Top Affiliating Genes
1	polycystic kidney disease 2, autosomal dominant	29.2	PKD2, PKD1
2	polycystic kidney disease, autosomal dominant	13.7	PKD2, PKD1
3	nephronophthisis	13.6	PKD1, PKD2
4	meesmann corneal dystrophy	13.6	KRT3, KRT12
5	enlarged parietal foramina	13.6	ALX4, MSX2
6	hereditary coproporphyria	13.5	HMBS, CPOX
7	cystic kidney	13.4	PKD2, PKD1, PAX2
8	polycystic kidney disease	13.4	PKD2, PKD1, PAX2
9	dilated cardiomyopathy with woolly hair and keratoderma	13.4	DSP, JUP
10	astigmatism	13.3	FGFR3, KRT12, KRT3
11	porphyria cutanea tarda	13.3	CPOX, HMBS, FTL
12	synostosis	13.3	ALX4, FGFR3, MSX2
13	skin carcinoma	13.3	CPOX, DSG2, JUP
14	corneal disease	13.3	GJB2, KRT12, KRT3
15	coproporphyria	13.3	CPOX, HMBS
16	cerebral aneurysms	13.3	PKD1, ELANE
17	aniridia	13.3	KRT12, PAX2, PAX3
18	variegate porphyria	13.2	CPOX, HMBS
19	hailey-hailey disease	13.2	DSP, DSC2, JUP
20	craniofacial anomalies	13.2	PTCH1, MSX2, PAX3
21	congenital porphyria	13.2	CPOX, HMBS
22	syndactyly	13.1	MSX2, FGFR3, ALX4, PTCH1
23	palmoplantar keratosis	13.1	DSP, GJB2, JUP
24	parietal foramina	13.0	ALX4, MSX2
25	naxos disease	13.0	DSP, DSC2, PKP2, JUP
26	polydactyly	13.0	PTCH1, ALX4, MSX2, PAX3
27	recessive developmental delay, small stature, microcephaly and brain calcifications	13.0	FGFR3, GJB2, PTCH1, ABCC8
28	keratoderma	12.9	JUP, GJB2, DSC2, DSP
29	orbit embryonal rhabdomyosarcoma	12.9	PAX3, JUP, PTCH1
30	pemphigus	12.9	DSP, DSG2, DSC2, JUP
31	pseudohypoaldosteronism type ii	12.9	NR3C2, WNK1, WNK4
32	ectodermal dysplasia	12.8	DSC2, NFKBIA, PKP2, GJB2, FGFR3
33	pseudohypoaldosteronism	12.8	NR3C2, WNK1, WNK4
34	arachnoiditis	12.7	DSP, DSG2, DSC2, PKP2, GJB2
35	chondrosarcoma	12.6	TGFB3, NFKBIA, PTCH1, FGFR3, JUP
36	urinary bladder cancer	12.6	JUP, FGFR3, GJB2, HMBS, PTCH1
37	aneurysm disease	12.5	ELANE, PKD2, PKD1
38	brugada syndrome	12.4	RYR2, TGFB3, PKP2
39	sensorineural hearing loss	12.4	PAX3, PAX2, FGFR3, GJB2
40	sinusitis	12.4	DSP, DSG2, DSC2, ELANE, KRT3
41	pancreatic carcinoma	12.4	GATA6, EFEMP1, TGFB3, NFKBIA, PKD1, JUP
42	oral squamous cell carcinoma	12.3	TGFB3, DSP, DSC2, KRT3, NFKBIA, FGFR3
43	hernia	12.3	PAX3, FTL, ELANE, GATA6
44	bartter disease	12.3	ABCC8, NFKBIA, NR3C2, PTCH1, FGFR3, PAX2
45	keratosis	12.3	DSP, DSG2, KRT12, PKP2, GJB2, FGFR3
46	prostate carcinoma	12.3	WNK1, TGFB3, NFKBIA, HMBS, FGFR3, JUP
47	rectal cloacogenic carcinoma	12.2	GATA6, PTCH1, FGFR3, JUP, UBIAD1
48	skin disease	12.1	DSP, ELANE, GJB2, FGFR3, JUP
49	boomerang dysplasia	12.1	PAX2, JUP, FGFR3, GJB2, CPOX, RUNX1
50	meningioma	12.1	DSP, DSG2, DSC2, PKP2, PTCH1, GJB2

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to autosomal dominant disease:

²⁵ (show all 19)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	9.0	EFEMP1, RUNX1, FGFR3, MSX2, PAX3
2	limbs/digits/tail phenotype	MP:0005371	8.6	TGFB3, PKD1, PTCH1, GJB2, ALX4, FGFR3
3	digestive/alimentary phenotype	MP:0005381	8.5	EFEMP1, TGFB3, PKD2, PKD1, PTCH1, ALX4
4	skeleton phenotype	MP:0005390	8.1	RUNX1, TGFB3, PKD1, PTCH1, FGFR3, MSX2
5	vision/eye phenotype	MP:0005391	8.0	EFEMP1, TGFB3, KRT12, CRYBA1, PTCH1, GJB2
6	no phenotypic analysis	MP:0003012	8.0	WNK4, RUNX1, RYR2, KRT12, GJB2, FGFR3
7	renal/urinary system phenotype	MP:0005367	7.6	EFEMP1, WNK4, WNK1, PKD2, PKD1, NR3C2
8	integument phenotype	MP:0010771	7.0	EFEMP1, RUNX1, DSP, NFKBIA, PKD1, PTCH1
9	immune system phenotype	MP:0005387	6.9	RUNX1, RYR2, ELANE, NFKBIA, PKD2, PKD1
10	nervous system phenotype	MP:0003631	5.3	PTCH1, NR3C2, PKD1, TGFB3, RYR2, RUNX1
11	muscle phenotype	MP:0005369	INF	RYR2, WNK1, EFEMP1, , PKP2, PKD1
12	growth/size phenotype	MP:0005378	INF	NFKBIA, DSP, RYR2, RUNX1, WNK1, EFEMP1
13	cardiovascular system phenotype	MP:0005385	INF	TGFB3, RYR2, RUNX1, WNK1, WNK4, EFEMP1
14	homeostasis/metabolism phenotype	MP:0005376	INF	ELANE, TGFB3, RYR2, RUNX1, WNK1, WNK4
15	mortality/aging	MP:0010768	INF	PAX3, NFKBIA, ELANE, DSG2, DSP, TGFB3
16	cellular phenotype	MP:0005384	INF	, RUNX1, TGFB3, DSP, DSG2, NFKBIA
17	embryogenesis phenotype	MP:0005380	INF	DSP, TGFB3, RYR2, RUNX1, WNK1,
18	normal phenotype	MP:0002873	INF	KRT12, ELANE, TGFB3, RYR2, RUNX1, EFEMP1
19	respiratory system phenotype	MP:0005388	INF	, PKD1, ALX4, PAX3

Genes related to autosomal dominant disease according to GeneCards:

(show all 33)

id	Symbol	Description	Score	GeneCards Section Context
1	CRYBA1	crystallin, beta A1	11.1	Summaries
2	HMBS	hydroxymethylbilane synthase	11.1	Summaries
3	ALX4	ALX homeobox 4	11.1	Summaries
4	PKD1	polycystic kidney disease 1 (autosomal dominant)	11.0
5	PKD2	polycystic kidney disease 2 (autosomal dominant)	11.0
6	NFKBIA	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	11.0	Summaries
7	ABCC8	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	11.0	Summaries
8	TMEM43	transmembrane protein 43	11.0
9	KRT12	keratin 12	11.0
10	UBIAD1	UbiA prenyltransferase domain containing 1	11.0
11	KRT3	keratin 3	11.0
12	WNK4	WNK lysine deficient protein kinase 4	11.0
13	DSC2	desmocollin 2	11.0
14	CPOX	coproporphyrinogen oxidase	11.0
15	DSG2	desmoglein 2	11.0
16	EFEMP1	EGF containing fibulin-like extracellular matrix protein 1	11.0
17	MSX2	msh homeobox 2	11.0
18	FTL	ferritin, light polypeptide	11.0
19	TGFB3	transforming growth factor, beta 3	11.0
20	JUP	junction plakoglobin	11.0
21	PTCH1	patched 1	11.0
22	PKP2	plakophilin 2	11.0
23	FGFR3	fibroblast growth factor receptor 3	11.0
24	PAX3	paired box 3	11.0
25	PAX2	paired box 2	11.0
26	DSP	desmoplakin	11.0
27	WNK1	WNK lysine deficient protein kinase 1	11.0
28	SCN9A	sodium channel, voltage-gated, type IX, alpha subunit	11.0
29	GJB2	gap junction protein, beta 2, 26kDa	11.0
30	RYR2	ryanodine receptor 2 (cardiac)	11.0
31	RUNX1	runt-related transcription factor 1	11.0
32	NR3C2	nuclear receptor subfamily 3, group C, member 2	11.0
33	ELANE	elastase, neutrophil expressed	11.0

Pathways related to autosomal dominant disease according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Porphyrin and chlorophyll metabolism20	9.9	FTL, HMBS, CPOX
2	Antiarrhythmic Pathway, Pharmacodynamics34	9.1	RYR2, DSP, ABCC8, JUP
3	Arrhythmogenic right ventricular cardiomyopathy (ARVC)20	8.7	JUP, PKP2, DSC2, DSG2, DSP, RYR2
4	Pathways in cancer20	8.4	RUNX1, TGFB3, NFKBIA, PTCH1, FGFR3, JUP

Compounds related to autosomal dominant disease according to GeneDecks:

(show all 24)

id	Compound	Score	Top Affiliating Genes
1	trp-p-232	10.5	PKD1, PKD2
2	protoporphyrin ix32 9 18 9	13.2	CPOX, HMBS, FTL
3	haem32	10.2	FTL, HMBS, CPOX
4	protoporphyrinogen32	10.2	HMBS, CPOX
5	uroporphyrin32	10.1	CPOX, HMBS
6	uroporphyrinogen-iii32	9.9	CPOX, HMBS
7	beta-lactam32	9.8	ELANE, PKD1
8	ryanodine32	9.6	RYR2, DSP, PKD2, JUP
9	thiazide32	9.4	WNK4, WNK1, NR3C2
10	fluticasone propionate32 42 9 9	12.1	NR3C2, NFKBIA, ELANE
11	sucrose32 9 18 9	11.9	RUNX1, DSP, PKD1, GJB2, JUP
12	proline32	8.7	WNK4, WNK1, RUNX1, KRT3, KRT12, NFKBIA
13	arginine32	8.7	CPOX, ABCC8, KRT3, KRT12, NFKBIA, NR3C2
14	lysine32	8.7	WNK4, WNK1, ABCC8, NFKBIA, NR3C2, FGFR3
15	glutamate32	8.4	CPOX, RYR2, ABCC8, NFKBIA, PKD1, NR3C2
16	dexamethasone32 42 34 9 9	12.4	CPOX, TGFB3, NFKBIA, NR3C2, FGFR3, JUP
17	chloride32	8.2	GJB2, WNK4, WNK1, RYR2, ABCC8, PKD1
18	potassium32 9 18 9	11.2	WNK4, WNK1, RYR2, ABCC8, NR3C2, GJB2
19	sodium32 18	9.1	WNK4, WNK1, RYR2, NFKBIA, PKD2, PKD1
20	oligonucleotide32	7.9	RUNX1, TGFB3, NFKBIA, NR3C2, FGFR3, JUP
21	serine32	6.6	WNK4, WNK1, RUNX1, DSP, ELANE, ABCC8
22	tyrosine32	6.4	ABCC8, DSG2, DSP, TGFB3, RUNX1, WNK1
23	calcium32 9 18 9	9.2	ABCC8, DSC2, DSG2, DSP, RYR2, CPOX
24	retinoic acid32 42 18	INF	, RUNX1, TGFB3, DSP, ELANE, NFKBIA

Cellular components related to autosomal dominant disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	motile primary cilium	GO:031512	10.2	PKD1, PKD2
2	polycystin complex	GO:002133	10.1	PKD2, PKD1
3	cell-cell junction	GO:005911	9.3	JUP, PKD2, PKP2, DSG2
4	desmosome	GO:030057	9.2	JUP, PKP2, DSC2, DSG2, DSP

Biological processes related to autosomal dominant disease according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	mesonephric tubule development	GO:072164	10.4	PKD1, PKD2
2	metanephric ascending thin limb development	GO:072218	10.4	PKD2, PKD1
3	cytoplasmic sequestering of transcription factor	GO:042994	10.3	NFKBIA, PKD2, PKD1
4	mesonephric duct development	GO:072177	10.3	PKD2, PKD1
5	detection of mechanical stimulus	GO:050982	10.2	JUP, PKD1, PKD2
6	digestive tract development	GO:048565	10.2	ALX4, PKD1, TGFB3
7	regulation of cellular process	GO:050794	10.2	WNK4, WNK1
8	JAK-STAT cascade	GO:007259	10.1	FGFR3, PKD1, PKD2
9	endochondral bone growth	GO:003416	10.0	FGFR3, MSX2
10	frontal suture morphogenesis	GO:060364	10.0	MSX2, TGFB3
11	metanephric mesenchyme development	GO:072075	10.0	PAX2, PKD2
12	metanephric collecting duct development	GO:072205	9.9	PKD1, PAX2
13	placenta blood vessel development	GO:060674	9.9	PKD2, PKD1
14	positive regulation of transcription from RNA polymerase II promoter	GO:045944	INF	, RUNX1, TGFB3, NFKBIA, PKD2, PKD1

Molecular functions related to autosomal dominant disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	ion channel binding	GO:044325	10.1	PKD1, PKD2, ABCC8
2	protein binding	GO:005515	INF	PAX3, , EFEMP1, WNK1, RUNX1, RYR2