Ectrodactyly malady

Wikipedia: Ectrodactyly, involves the deficiency or absence of one or more central digits of the hand or foot and...⁴⁴ more...

MalaCards: Ectrodactyly, also known as split hand/split foot, is related to eec syndrome and ectrodactyly, ectodermal dysplasia, clefting syndrome. An important gene associated with Ectrodactyly is SHFM1P1 (split hand/foot malformation (ectrodactyly) type 1 pseudogene 1). Affiliated tissues include t cells and pituitary, and related mouse phenotypes are skeleton and digestive/alimentary.

ectrodactyly 7 16 32 43 split hand/split foot 16

Diseases related to ectrodactyly by text searches and GeneDecks gene sharing:

(show top 50)    (show all 63)

id	Related Disease	Score	Top Affiliating Genes
1	eec syndrome	31.9	TP63, EEC1
2	ectrodactyly, ectodermal dysplasia, clefting syndrome	31.8	TP63, PRL
3	ectodermal dysplasia	30.5	EEC2, EEC1, PRL, TP63, CDH3
4	split hand/foot malformation	27.6	FBXW4, FBXW4P1, TP63, SHFM1, SHFM1P1, SHFM2
5	microphthalmia	27.4	SIX3, PORCN, PRL, SNX3, NR2E1
6	microcephaly	26.6	DHCR7, TGIF1, SNX3, NR2E1
7	adams oliver syndrome	26.5	DOCK6, ARHGAP31
8	cleft lip	24.4	EEC2, EEC1, SIX3, DHCR7, TGIF1, SNX3
9	holoprosencephaly	24.3	SIX3, DHCR7, TGIF1, GLI2, FGF8
10	breast metaplastic carcinoma	12.9	CDH3, TP63
11	holoprosencephaly, recurrent infections, and monocytosis	12.9	SIX3, GLI2
12	oliver syndrome	12.7	DOCK6, ARHGAP31
13	anophthalmia	12.6	SNX3, PRL, PORCN, SIX3
14	aplasia cutis congenita	12.6	ARHGAP31, DOCK6
15	tooth agenesis	12.6	CDH3, FGF8, DLX5
16	hypopituitarism	12.6	SIX3, PRL, GLI2
17	cutis marmorata telangiectatica congenita	12.6	ARHGAP31, DOCK6
18	craniofacial anomalies	12.5	FGF8, DHCR7
19	basal cell carcinoma	12.5	TP63, GLI2, CDH3
20	cleft palate	12.1	FGF8, TP63, DLX5, DHCR7
21	polydactyly	12.0	SIX3, DHCR7, GLI2, FGF8
22	mucoepidermoid carcinoma	11.9	CDH3, TP63, TGIF1
23	syndactyly	10.9	PORCN, DHCR7, SHFM1, DOCK6, TP63, FBXW4
24	stickler syndrome	10.3	EEC2, EEC1, SIX3, DHCR7, TGIF1, SNX3
25	split hand split foot nystagmus	9.6
26	acrorenal mandibular syndrome	8.1
27	hearing loss	8.1
28	eem syndrome	7.4
29	ectrodactyly, ectodermal dysplasia, clefting syndrome (non-tp73lrelated)	7.1
30	ectrodactyly cardiopathy dysmorphism	6.8
31	ectrodactyly with tibial hemimelia	6.8
32	fibular aplasia ectrodactyly	6.8
33	mental retardation spasticity ectrodactyly	6.8
34	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	6.5
35	holoprosencephaly ectrodactyly cleft lip palate	6.5
36	phocomelia ectrodactyly deafness sinus arrhythmia	6.5
37	phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia	6.5
38	short stature monodactylous ectrodactyly cleft palate	6.5
39	anonychia ectrodactyly	6.5
40	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	6.5
41	ectrodactyly and ectodermal dysplasia without cleft lip/palate	6.5
42	ectrodactyly cleft palate syndrome	6.5
43	ectrodactyly polydactyly	6.5
44	cleft lip/palate	5.9
45	cleft hand absent tibia	5.9
46	cleft palate cardiac defect ectrodactyly	5.9
47	femur bifid with monodactylous ectrodactyly	5.9
48	hydrops ectrodactyly syndactyly	5.9
49	kasznica carlson coppedge syndrome	5.9
50	tibial aplasia ectrodactyly hydrocephalus	5.9

Approved drugs:

Drug clinical trials:

Genetic tests related to ectrodactyly:

id	Genetic test	Affiliating Genes
1	Ectrodactyly clinical/research	FBXW4, TP63, SHFM3

MalaCards organs/tissues related to ectrodactyly:

²²

MGI Mouse Phenotypes related to ectrodactyly:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	skeleton phenotype	MP:0005390	7.7	SIX3, PORCN, DLX5, TP63, GLI2, EN1
2	digestive/alimentary phenotype	MP:0005381	7.6	SIX3, PORCN, DHCR7, DLX5, TP63, GLI2
3	reproductive system phenotype	MP:0005389	7.3	TGIF1, NR2E1, TP63, GLI2, EN1, FGF8
4	craniofacial phenotype	MP:0005382	7.1	SIX3, PORCN, DHCR7, TGIF1, DLX5, TP63
5	limbs/digits/tail phenotype	MP:0005371	7.0	FGF8, PORCN, DHCR7, TGIF1, DLX5, TP63
6	embryogenesis phenotype	MP:0005380	6.8	SIX3, PORCN, PRL, TGIF1, DLX5, TP63

Articles related to ectrodactyly:

(show all 21)

id	Title	Authors	Year	Affiliating Genes
1	Molecular basis of EEC (ectrodactyly, ectodermal dysp lasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. (19903181)	Clements S.E.... McGrath J.A.	2010	TP63
2	Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as cand idate genes. (19449411)	Zechi-Ceide R.M.... Richieri-Costa A.	2009	DHCR7, TGIF1, SIX3
3	Characterization of two ectrodactyly-associated trans location breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2. (19223936)	David D.... van Bokhoven H.	2009	GLI2, EN1
4	Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. (18392654)	Friedli M.... Antonarakis S.E.	2008	FBXW4
5	Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). (19239089)	Janssens S.... Mortier G.	2008	TP63
6	Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes. (17655765)	Kumar R.A.... Simpson E.M.	2007	SNX3, NR2E1
7	Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63. (15736220)	Zenteno J.C.... Mutchinick O.M.	2005	TP63
8	Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). (15805154)	Kjaer K.W.... Rosenberg T.	2005	CDH3
9	One family investigation and pathogeny research on ectrodactyly, absence of radius side part palm and split foot malformation (15476176)	Hu Z.J.... Zhang A.Y.	2004	TP63, CKAP4
10	A de novo heterozygous point mutation in the p63 gene causing the syndrome of ectrodactyly, ectodermal dysplasia and facial clefting. (15491445)	Pozo G.... Zenteno J.C.	2004	TP63
11	p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly. (14656652)	Berdon-Zapata V.... Zenteno J.C.	2004	TP63
12	Prenatal diagnosis of acro-dermatoungual-lacrimal-tooth syndrome, a dominantly inherited ectrodactyly. (12164578)	O'Brien K.E.... Bianchi D.W.	2002	TP63
13	EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis. (11903230)	South A.P.... McGrath J.A.	2002	TP63
14	Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. (12471201)	Vervoort V.S.... Schwartz C.E.	2002	SNX3
15	Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies. (12445213)	Hamada T.... McGrath J.A.	2002	TP63
16	Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. (9443880)	O'Quinn J.R.... Bamshad M.	1998	EEC2
17	Pathogenesis of ectrodactyly in the Dactylaplasia mou se: aberrant cell death of the apical ectodermal ridge. (9408977)	Seto M.L.... Cunningham M.L.	1997	FGF8
18	Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency. (9028452)	Gershoni-Baruch R.... Hochberg Z.	1997	PRL
19	Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. (7987313)	Scherer S.W.... Little S.	1994	DLX5
20	EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3. (1424230)	Qumsiyeh M.B.	1992	EEC1
21	Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. (1877619)	Sharland M.... Hill L.	1991	SHFM1

Genes related to ectrodactyly according to GeneCards:

(show all 24)

id	Symbol	Description	Score	GeneCards Section Context
1	SHFM1P1	split hand/foot malformation (ectrodactyly) type 1 pseudogene 1	11.1	Aliases & Descriptions
2	EEC2	ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2	11.0	Publications, Aliases & Descriptions
3	SHFM5	split hand/foot malformation (ectrodactyly) type 5	11.0	Aliases & Descriptions
4	EEC1	ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1	11.0	Aliases & Descriptions, Publications
5	SHFM2	split hand/foot malformation (ectrodactyly) type 2	11.0	Aliases & Descriptions
6	FBXW4P1	F-box and WD repeat domain containing 4 pseudogene 1	11.0	Aliases & Descriptions
7	SHFM1	split hand/foot malformation (ectrodactyly) type 1	11.0	Publications, Orthologs, Aliases & Descriptions, Transcripts
8	FBXW4	F-box and WD repeat domain containing 4	11.0	Aliases & Descriptions, Publications
9	TP63	tumor protein p63	11.0	Publications
10	CDH3	cadherin 3, type 1, P-cadherin (placental)	11.0	Publications
11	PRL	prolactin	11.0	Publications
12	CKAP4	cytoskeleton-associated protein 4	11.0	Publications
13	PORCN	porcupine homolog (Drosophila)	11.0
14	SNX3	sorting nexin 3	11.0	Publications
15	EN1	engrailed homeobox 1	11.0	Publications
16	SIX3	SIX homeobox 3	11.0	Publications
17	NR2E1	nuclear receptor subfamily 2, group E, member 1	11.0	Publications
18	DLX5	distal-less homeobox 5	11.0	Publications
19	DHCR7	7-dehydrocholesterol reductase	11.0	Publications
20	FGF8	fibroblast growth factor 8 (androgen-induced)	11.0	Publications
21	DOCK6	dedicator of cytokinesis 6	11.0
22	ARHGAP31	Rho GTPase activating protein 31	11.0
23	TGIF1	TGFB-induced factor homeobox 1	11.0	Publications
24	GLI2	GLI family zinc finger 2	11.0	Publications

Biological processes related to ectrodactyly according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	midbrain-hindbrain boundary development	GO:030917	9.7	FGF8, EN1
2	hindbrain development	GO:030902	9.7	EN1, GLI2
3	embryonic limb morphogenesis	GO:030326	9.6	DLX5, TP63, FBXW4
4	proximal/distal pattern formation	GO:009954	9.5	EN1, GLI2, TP63
5	skeletal system development	GO:001501	8.8	EN1, GLI2, TP63, DLX5

Molecular functions related to ectrodactyly according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sequence-specific DNA binding	GO:043565	8.2	EN1, GLI2, NR2E1, TGIF1, SIX3