Split-Hand/foot Malformation 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Split-Hand/foot Malformation 1

MalaCards integrated aliases for Split-Hand/foot Malformation 1:

Name: Split-Hand/foot Malformation 1 ⁵⁷ ³⁸

Ectrodactyly ⁵⁷ ⁷⁵ ²⁸ ⁵³ ⁵ ⁷¹

Split Hand-Foot Malformation 1 ¹¹ ²⁸ ⁵ ¹⁴

Split-Hand Deformity ⁵⁷ ⁷⁵

Shfm1 ⁵⁷ ¹¹

Shfd1 ⁵⁷ ¹¹

Split-Hand/foot Malformation 1 with or Without Deafness ⁵⁷

Split Hand/foot Malformation Type 1 ¹²

Split-Hand/foot Malformation ⁷¹

Split-Hand/foot Deformity 1 ⁵⁷

Split Hand Foot Deformity 1 ⁷¹

Ecd ⁵⁷

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable expressivity
incomplete penetrance
contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 , dlx5 , and dlx6 genes and possible regulatory elements in the region

HPO:

³⁰

split-hand/foot malformation 1:
Onset and clinical course variable expressivity

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Neuronal diseases Ear diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Reduction defects of upper limb

Lobster-claw hand

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Summaries for Split-Hand/foot Malformation 1

OMIM®: ⁵⁷ Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001). (183600) (Updated 08-Dec-2022)

MalaCards based summary: Split-Hand/foot Malformation 1, also known as ectrodactyly, is related to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 and split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive. An important gene associated with Split-Hand/foot Malformation 1 is DLX5 (Distal-Less Homeobox 5), and among its related pathways/superpathways are Head and neck squamous cell carcinoma and Validated transcriptional targets of deltaNp63 isoforms. Affiliated tissues include bone, heart and skin, and related phenotypes are split hand and split foot

Disease Ontology: ¹¹ A split-hand/foot malformation that has material basis in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.

Wikipedia: ⁷⁵ Ectrodactyly, split hand, or cleft hand (derived from Greek ektroma 'abortion' and daktylos 'finger')... more...

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Related Diseases for Split-Hand/foot Malformation 1

Diseases in the Split Hand-Foot Malformation family:

Split-Hand/foot Malformation 1	Split-Hand/foot Malformation 6
Split-Hand/foot Malformation 3	Split-Hand/foot Malformation 2
Split-Hand/foot Malformation 4	Split-Hand/foot Malformation 5

Diseases related to Split-Hand/foot Malformation 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 499)

#	Related Disease	Score	Top Affiliating Genes
1	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1	32.4	TP63 DLX5
2	split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive	32.3	TP63 SEM1 MAP3K20 DLX5
3	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	32.2	TP63 DLX5
4	split-hand/foot malformation 3	31.1	TP63 SEM1 DLX5
5	split-hand/foot malformation 4	31.1	TP63 SEM1 DLX5
6	ankyloblepharon-ectodermal defects-cleft lip/palate	30.9	TP63 FGFR2 DLX5
7	cleft palate, isolated	30.0	TP63 FGFR2 DLX5
8	isolated split hand-split foot malformation	30.0	TP63 SEM1 DLX5
9	rapp-hodgkin syndrome	29.7	TP63 DLX5
10	tooth agenesis	29.7	TP63 FGFR2 DLX5
11	split hand-foot malformation	29.3	ZNF138 TP63 SEM1 DLX5
12	chromosome 2q35 duplication syndrome	29.2	TP63 SEM1 FGFR2 DLX5
13	orofacial cleft	29.1	TP63 FGFR2 DLX5
14	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	11.6
15	hartsfield syndrome	11.6
16	erdheim-chester disease	11.6
17	brachydactyly-ectrodactyly with fibular aplasia or hypoplasia	11.5
18	intellectual disability-spasticity-ectrodactyly syndrome	11.5
19	microphthalmia, syndromic 8	11.5
20	ectrodactyly-polydactyly	11.5
21	phocomelia ectrodactyly deafness sinus arrhythmia	11.5
22	femur, unilateral bifid, with monodactylous ectrodactyly	11.4
23	adult syndrome	11.4
24	atrioventricular septal defect	11.4
25	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	11.3
26	acrofacial dysostosis 1, nager type	11.3
27	ectrodactyly and ectodermal dysplasia without cleft lip/palate	11.3
28	triphalangeal thumbs with brachyectrodactyly	11.3
29	tibial aplasia-ectrodactyly syndrome	11.3
30	aplasia cutis congenita, nonsyndromic	11.3
31	split-foot deformity with mandibulofacial dysostosis	11.3
32	cleft palate, cardiac defect, genital anomalies, and ectrodactyly	11.2
33	limb-mammary syndrome	11.2
34	anonychia-ectrodactyly	11.1
35	ectrodactyly cardiopathy dysmorphism	11.1
36	ectrodactyly-cleft palate syndrome	11.0
37	focal dermal hypoplasia	11.0
38	kasznica carlson coppedge syndrome	11.0
39	split-hand with congenital nystagmus, fundal changes, and cataracts	11.0
40	alopecia-contractures-dwarfism-intellectual disability syndrome	11.0
41	charlie m syndrome	11.0
42	cerebral primitive neuroectodermal tumor	11.0
43	complete atrioventricular canal	10.9
44	cystic medial necrosis of aorta	10.9
45	partial atrioventricular canal	10.9
46	split-hand/foot malformation 6	10.9
47	split-hand/foot malformation 2	10.9
48	split-hand/foot malformation 5	10.9
49	limb defects, distal transverse, with mental retardation and spasticity	10.9
50	ectrodactyly of lower limbs, congenital heart defect, and micrognathia	10.9

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation 1:

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Symptoms & Phenotypes for Split-Hand/foot Malformation 1

Human phenotypes related to Split-Hand/foot Malformation 1:

³⁰ (show all 21)

#	Description	HPO Frequency	HPO Source Accession
1	split hand ³⁰	Hallmark (90%)	HP:0001171
2	split foot ³⁰	Hallmark (90%)	HP:0001839
3	cleft palate ³⁰	Frequent (33%)	HP:0000175
4	hand oligodactyly ³⁰	Frequent (33%)	HP:0001180
5	foot oligodactyly ³⁰	Frequent (33%)	HP:0001849
6	syndactyly ³⁰	Frequent (33%)	HP:0001159
7	intellectual disability ³⁰	Very rare (1%)	HP:0001249
8	hearing impairment ³⁰	Very rare (1%)	HP:0000365
9	abnormality of cardiovascular system morphology ³⁰	Very rare (1%)	HP:0030680
10	abnormal pinna morphology ³⁰	Very rare (1%)	HP:0000377
11	sensorineural hearing impairment ³⁰		HP:0000407
12	abnormality of the genital system ³⁰		HP:0000078
13	abnormality of the urinary system ³⁰		HP:0000079
14	cutaneous finger syndactyly ³⁰		HP:0010554
15	triphalangeal thumb ³⁰		HP:0001199
16	median cleft lip ³⁰		HP:0000161
17	ectrodactyly ³⁰		HP:0100257
18	lacrimal duct aplasia ³⁰		HP:0007925
19	2-3 toe syndactyly ³⁰		HP:0004691
20	clinodactyly ³⁰		HP:0030084
21	broad hallux ³⁰		HP:0010055

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skeletal Hands:
split hand
ectrodactyly
triphalangeal thumbs
aplasia of single digital ray
hypoplasia, fusion, and contractures of post-axial fingers

Skeletal Feet:
ectrodactyly
split foot
clinodactyly
broad hallux

Clinical features from OMIM®:

183600 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Split-Hand/foot Malformation 1

Search Clinical Trials, NIH Clinical Center for Split-Hand/foot Malformation 1

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Genetic Tests for Split-Hand/foot Malformation 1

Genetic tests related to Split-Hand/foot Malformation 1:

#	Genetic test	Affiliating Genes
1	Ectrodactyly ²⁸
2	Split Hand-Foot Malformation 1 ²⁸	DLX5

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Anatomical Context for Split-Hand/foot Malformation 1

Organs/tissues related to Split-Hand/foot Malformation 1:

MalaCards : Bone, Heart, Skin, Tongue, Breast, Pituitary, Eye

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Publications for Split-Hand/foot Malformation 1

Articles related to Split-Hand/foot Malformation 1:

(show top 50) (show all 809)

#	Title	Authors	PMID	Year
1	Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. ⁶² ⁵⁷ ⁵	Sowinska-Seidler A...Jamsheer A	25196357	2014
2	Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. ⁶² ⁵⁷ ⁵	Wang X...Liu Q	24496061	2014
3	Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I. ⁶² ⁵⁷	Rattanasopha S...Shotelersuk V	25332435	2014
4	A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation. ⁶² ⁵⁷	Velinov M...Iqbal MA	23169702	2012
5	Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. ⁶² ⁵⁷	Shamseldin HE...Alkuraya FS	22121204	2012
6	Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss. ⁶² ⁵⁷	Saitsu H...Matsumoto N	19449426	2009
7	Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes. ⁶² ⁵⁷	Bernardini L...Dallapiccola B	18080328	2008
8	Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. ⁶² ⁵⁷	Elliott AM...Evans JA	16688749	2006
9	Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. ⁶² ⁵⁷	Wieland I...Wieacker PF	15121782	2004
10	Pathogenesis of split-hand/split-foot malformation. ⁶² ⁵⁷	Duijf PH...Brunner HG	12668597	2003
11	Mouse model of split hand/foot malformation type I. ⁶² ⁵⁷	Merlo GR...Levi G	12112878	2002
12	Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. ⁶² ⁵⁷	Tackels-Horne D...Schwartz CE	11168022	2001
13	Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. ⁶² ⁵⁷	Ignatius J...Kere J	8782053	1996
14	Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac. ⁶² ⁵⁷	Johnson KR...Davisson MT	8666395	1995
15	Ectrodactyly and proximal/intermediate interstitial deletion 7q. ⁶² ⁵⁷	McElveen C...Lacassie Y	7747769	1995
16	Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. ⁶² ⁵⁷	Marinoni JC...Schwartz CE	7606850	1995
17	Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. ⁶² ⁵⁷	Scherer SW...Little S	7987313	1994
18	Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. ⁶² ⁵⁷	Palmer SE...Evans JP	7912888	1994
19	Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. ⁶² ⁵⁷	Scherer SW...Patton MA	8023840	1994
20	Inverted insertion of chromosome 7q and ectrodactyly. ⁶² ⁵⁷	Naritomi K...Hirayama K	8322806	1993
21	Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. ⁶² ⁵⁷	Sharland M...Hill L	1877619	1991
22	Ectro-amelia syndrome associated with an interstitial deletion of 7q. ⁶² ⁵⁷	Morey MA...Higgins RR	2301476	1990
23	Interstitial long-arm deletion of chromosome 7 and ectrodactyly. ⁶² ⁵⁷	Tajara EH...Gusson AC	2929660	1989
24	The split-hand and split-foot anomaly in a central African Negro population. ⁶² ⁵⁷	Viljoen DL...Beighton P	6507501	1984
25	Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types. ⁶² ⁵⁷	Bujdoso G...Lenz W	7389732	1980
26	A problem for genetic counselling - split hand deformity. ⁶² ⁵⁷	Emery AE	891014	1977
27	Dominant ectrodactyly and possible germinal mosaicism. ⁶² ⁵⁷	David TJ	5079103	1972
28	A recessive form of ectrodactyly, and its implications in genetic counseling. ⁶² ⁵⁷	Freire-Maia A	5094721	1971
29	Ectrodactyly--evidence in favour of a disturbed segregation in the offspring of affected males. ⁶² ⁵⁷	STEVENSON AC...JENNINGS LM	13834546	1960
30	Two pedigrees of ectrodactyly. ⁶² ⁵⁷	MacKENZIE HJ...PENROSE LS	24541402	1951
31	Discrepancies in upper and lower limb patterning in split hand foot malformation. ⁵⁷	Elliott AM...Evans JA	16207208	2005
32	Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3. ⁵⁷	Haberlandt E...Janecke AR	11424924	2001
33	Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father. ⁵⁷	De Smet L...Fryns JP	11693788	2001
34	Defect in the maintenance of the apical ectodermal ridge in the Dactylaplasia mouse. ⁵⁷	Crackower MA...Tsui LC	9733575	1998
35	Bilateral split hand/foot malformation and inv(7)(p22q21.3). ⁵⁷	Cobben JM...Castedo S	7616545	1995
36	Non-Mendelian transmission in a human developmental disorder: split hand/split foot. ⁵⁷	Jarvik GP...Evans JP	7942849	1994
37	On the inheritance of the split hand/split foot malformation. ⁵⁷	Zlotogora J	7802032	1994
38	The genetics of human limb development. ⁵⁷	Roberts DJ...Tabin C	7912883	1994
39	Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. ⁵⁷	Genuardi M...Neri G	8279479	1993
40	Human situs determination and chromosome constitution 46,XY,ins(7;8)(q22;q12q24) ⁵⁷	Koiffmann CP...Coates MV	8192752	1993
41	Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. ⁵⁷	Roberts SH...Meredith AL	1895319	1991
42	Why is Mendelian segregation so exact? ⁵⁷	Crow JF	1909864	1991
43	[Interstitial deletion of the long arm of chromosome 7 and its clinical correlations]. ⁵⁷	Del Porto G...Di Fusco C	6680429	1983
44	Another case of split-foot mutation in two sibs. ⁵⁷	Ray AK	4320415	1970
45	[Split hand and foot with familial occurrence]. ⁵⁷	NEUGEBAUER H	14479171	1962
46	[Delayed mutation in man; a critical observation on the work of Ch. Auerbachs (1956)]. ⁵⁷	VOGEL F	13509525	1958
47	A possible case of delayed mutation in man. ⁵⁷	AUERBACH C	13314396	1956
48	Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. ⁵³ ⁶²	Clements SE...McGrath JA	19903181	2010
49	A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. ⁵³ ⁶²	Balci S...Kandemir B	19716498	2009
50	A new mutation in TP63 is associated with age-related pathology. ⁵³ ⁶²	Holder-Espinasse M...Manouvrier-Hanu S	17609671	2007

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Genes for Split-Hand/foot Malformation 1

Genes related to Split-Hand/foot Malformation 1 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DLX5	Distal-Less Homeobox 5	Protein Coding	1013.63	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	24496061 25196357
2	MAP3K20	Mitogen-Activated Protein Kinase Kinase Kinase 20	Protein Coding	400	Pathogenic ⁵
3	MAP3K20-AS1	MAP3K20 Antisense RNA 1	RNA Gene	400	Pathogenic ⁵
4	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	25	Likely pathogenic ⁵
5	PLAA	Phospholipase A2 Activating Protein	Protein Coding	25	Likely pathogenic ⁵
6	TP63	Tumor Protein P63	Protein Coding	10.9	Novoseek inferred ⁵³	14656652 11462173 15736220 (more) 11903230 11528512 12445213 12446784 12939657 15476176 17312919 17041931 16319531 17609671 12164578 19903181 15988026 15491445 11012604 19716498
7	SEM1	SEM1 26S Proteasome Subunit	Protein Coding	7.74	GeneCards inferred via : Publications (show sections)
8	ZNF138	Zinc Finger Protein 138	Protein Coding	7.4	DISEASES inferred ¹⁴
9	ZNF133	Zinc Finger Protein 133	Protein Coding	7.07	DISEASES inferred ¹⁴

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Variations for Split-Hand/foot Malformation 1

ClinVar genetic disease variations for Split-Hand/foot Malformation 1:

⁵ (show all 17)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	overlap with 67 genes	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CN LOSS	Pathogenic	545583		GRCh37: 7:92445452-99686985 GRCh38:
2	DLX5	NM_005221.6(DLX5):c.115G>T (p.Glu39Ter)	SNV	Pathogenic	156469	rs587777842	GRCh37: 7:96653821-96653821 GRCh38: 7:97024509-97024509
3	MAP3K20-AS1, MAP3K20	NM_016653.3(MAP3K20):c.1103T>G (p.Phe368Cys)	SNV	Pathogenic	218144	rs863225437	GRCh37: 2:174097087-174097087 GRCh38: 2:173232359-173232359
4	DLX5	NM_005221.6(DLX5):c.558G>T (p.Gln186His)	SNV	Pathogenic	91861	rs398122527	GRCh37: 7:96650360-96650360 GRCh38: 7:97021048-97021048
5	PLAA	NM_001031689.3(PLAA):c.1487-1G>A	SNV	Likely Pathogenic	598964	rs1426488816	GRCh37: 9:26913946-26913946 GRCh38: 9:26913948-26913948
6	FGFR2	NM_000141.5(FGFR2):c.764G>A (p.Arg255Gln)	SNV	Likely Pathogenic	869459	rs1850314485	GRCh37: 10:123279668-123279668 GRCh38: 10:121520154-121520154
7	TP63	NM_003722.5(TP63):c.*519C>T	SNV	Uncertain Significance	344400	rs886058228	GRCh37: 3:189612810-189612810 GRCh38: 3:189895021-189895021
8	TP63	NM_003722.5(TP63):c.*1947dup	DUP	Uncertain Significance	344418	rs140654135	GRCh37: 3:189614229-189614230 GRCh38: 3:189896440-189896441
9	TP63	NM_003722.5(TP63):c.*2555dup	DUP	Uncertain Significance	344435	rs772929136	GRCh37: 3:189614841-189614842 GRCh38: 3:189897052-189897053
10	TP63	NM_003722.5(TP63):c.1130_1133del	DEL	Uncertain Significance	344407	rs886058229	GRCh37: 3:189613419-189613422 GRCh38: 3:189895630-189895633
11	TP63	NM_003722.5(TP63):c.235_238del	DEL	Uncertain Significance	344394	rs886058225	GRCh37: 3:189612523-189612526 GRCh38: 3:189894734-189894737
12	UBA2	NM_005499.3(UBA2):c.364C>G (p.Arg122Gly)	SNV	Uncertain Significance	978773	rs1599889628	GRCh37: 19:34925778-34925778 GRCh38: 19:34434873-34434873
13	TP63	NM_003722.5(TP63):c.2719_2720del	DEL	Likely Benign	344438	rs574327104	GRCh37: 3:189615007-189615008 GRCh38: 3:189897218-189897219
14	TP63	NM_003722.5(TP63):c.*2636del	DEL	Likely Benign	344437	rs5855278	GRCh37: 3:189614927-189614927 GRCh38: 3:189897138-189897138
15	TP63	NM_003722.5(TP63):c.*2544del	DEL	Benign	344434	rs201395656	GRCh37: 3:189614829-189614829 GRCh38: 3:189897040-189897040
16	TP63	NM_003722.5(TP63):c.*1844dup	DUP	Benign	344416	rs146332971	GRCh37: 3:189614134-189614135 GRCh38: 3:189896345-189896346
17	TP63	NM_003722.4(TP63):c.*2789A>G	SNV	Benign	369418	rs11708746	GRCh37: 3:189615080-189615080 GRCh38: 3:189897291-189897291

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Expression for Split-Hand/foot Malformation 1

Search GEO for disease gene expression data for Split-Hand/foot Malformation 1.

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Pathways for Split-Hand/foot Malformation 1

Pathways related to Split-Hand/foot Malformation 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Head and neck squamous cell carcinoma ⁷⁴	10.82	TP63 FGFR2
2	Validated transcriptional targets of deltaNp63 isoforms ⁶¹	10.3	TP63 DLX5

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GO Terms for Split-Hand/foot Malformation 1

Biological processes related to Split-Hand/foot Malformation 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	hair follicle morphogenesis	GO:0031069	9.62	TP63 FGFR2
2	embryonic limb morphogenesis	GO:0030326	9.54	TP63 DLX5
3	bone morphogenesis	GO:0060349	9.43	FGFR2 DLX5
4	epithelial cell differentiation	GO:0030855	9.35	TP63 FGFR2 DLX5
5	anatomical structure formation involved in morphogenesis	GO:0048646	9.33	TP63 DLX5
6	squamous basal epithelial stem cell differentiation involved in prostate gland acinus development	GO:0060529	8.92	TP63 FGFR2

Sources

Sources for Split-Hand/foot Malformation 1

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SHFM1 MCID: SPL067 MIFTS: 47	Split-Hand/foot Malformation 1 (SHFM1) Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Split-Hand/foot Malformation 1 (SHFM1)

Aliases & Classifications for Split-Hand/foot Malformation 1

MalaCards integrated aliases for Split-Hand/foot Malformation 1:

Characteristics:

Inheritance:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Split-Hand/foot Malformation 1

Related Diseases for Split-Hand/foot Malformation 1

Diseases in the Split Hand-Foot Malformation family:

Diseases related to Split-Hand/foot Malformation 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation 1:

Symptoms & Phenotypes for Split-Hand/foot Malformation 1

Human phenotypes related to Split-Hand/foot Malformation 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Split-Hand/foot Malformation 1

Genetic Tests for Split-Hand/foot Malformation 1

Genetic tests related to Split-Hand/foot Malformation 1:

Anatomical Context for Split-Hand/foot Malformation 1

Organs/tissues related to Split-Hand/foot Malformation 1:

Publications for Split-Hand/foot Malformation 1

Articles related to Split-Hand/foot Malformation 1:

Genes for Split-Hand/foot Malformation 1

Genes related to Split-Hand/foot Malformation 1 (3 elite genes):

Variations for Split-Hand/foot Malformation 1

ClinVar genetic disease variations for Split-Hand/foot Malformation 1:

Expression for Split-Hand/foot Malformation 1

Pathways for Split-Hand/foot Malformation 1

Pathways related to Split-Hand/foot Malformation 1 according to GeneCards Suite gene sharing:

GO Terms for Split-Hand/foot Malformation 1

Biological processes related to Split-Hand/foot Malformation 1 according to GeneCards Suite gene sharing:

Sources for Split-Hand/foot Malformation 1