MCID: SPL037
MIFTS: 34

Split Hand Foot Malformation malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Split Hand Foot Malformation

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Aliases & Descriptions for Split Hand Foot Malformation:

Name: Split Hand Foot Malformation 45
Ectrodactyly 45 22 47 24 65
Split-Hand/foot Malformation 65
Split Hand Foot Deformity 1 65
 
Split Hand Foot Deformity 65
Split Hand/split Foot 22
Shfm 45

Classifications:



External Ids:

UMLS65 C2699510, C2931018, C0265554 C2931019, more

Summaries for Split Hand Foot Malformation

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NIH Rare Diseases:45 Split hand foot malformation (shfm) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. the severity of this condition varies widely among affected individuals. shfm is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. shfm may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. at least six different forms of isolated shfm have been described. each type is associated with a different underlying genetic cause. shfm1 has been linked to chromosome 7, and shfm2 is linked to the x chromosome. shfm3 is caused by a duplication of chromosome 10 at position 10q24. changes (mutations) in the tp63 gene cause shfm4. shfm5 is linked to chromosome 2, and shfm6 is caused by mutations in the wnt10b gene. shfm may be inherited in an autosomal dominant, autosomal recessive, or x-linked manner. last updated: 1/22/2014

MalaCards based summary: Split Hand Foot Malformation, also known as ectrodactyly, is related to split hand foot malformation 1 and split hand split foot nystagmus. An important gene associated with Split Hand Foot Malformation is TP63 (Tumor Protein P63), and among its related pathways are TP53 network and Signaling events mediated by HDAC Class II. Affiliated tissues include b cells, testes and lung, and related mouse phenotype limbs/digits/tail.

Related Diseases for Split Hand Foot Malformation

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Diseases in the Split Hand Foot Malformation family:

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

Diseases related to Split Hand Foot Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1split hand foot malformation 128.9BHLHA9, C7orf76, DLX5, FBXW4, FBXW4P1, GLI2
2split hand split foot nystagmus13.0
3split-hand/foot malformation 1 with sensorineural hearing loss13.0
4split-hand/foot malformation 613.0
5split-hand/foot malformation 413.0
6split-hand/foot malformation with long bone deficiency 312.9
7split-hand/foot malformation 312.9
8split hand/foot malformation x-linked12.9
9split-hand/foot malformation 512.8
10split-hand/foot malformation with long bone deficiency 112.8
11split-hand/foot malformation with long bone deficiency 212.7
12ectodermal dysplasia, ectrodactyly, and macular dystrophy12.5
13ectrodactyly with tibial hemimelia12.0
14split hand-split foot malformation11.8
15ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.6
16eec syndrome10.6
17split hand split foot malformation autosomal recessive10.6
18herpes simplex10.4
19endotheliitis10.4
20systemic lupus erythematosus10.3
21asthma10.3
22renal cell carcinoma10.3
23cystic fibrosis10.3
24keratitis10.3
25pallister-killian syndrome10.3
26deficiency anemia10.3
27cerebral hemorrhage10.3
28crohn's disease10.3
29hepatitis10.3
30hepatitis b10.3
31leukemia10.3
32mantle cell lymphoma10.3
33thrombocytopenia10.3
34atrioventricular septal defect10.3
35lymphoma10.3
36myelomeningocele10.3
37thrombotic thrombocytopenic purpura10.3
38pulpitis10.3
39gestational diabetes10.3
40iron deficiency anemia10.3
41denture stomatitis10.3
42otosclerosis10.3
43acoustic neuroma10.3
44dementia10.3
45neuroma10.3
46factor xiii deficiency10.3
47cervicitis10.3
48hairy cell leukemia10.3
49endometrial adenocarcinoma10.3
50adenocarcinoma10.3

Graphical network of the top 20 diseases related to Split Hand Foot Malformation:



Diseases related to split hand foot malformation

Symptoms for Split Hand Foot Malformation

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Drugs & Therapeutics for Split Hand Foot Malformation

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Split Hand Foot Malformation

Genetic Tests for Split Hand Foot Malformation

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Genetic tests related to Split Hand Foot Malformation:

id Genetic test Affiliating Genes
1 Ectrodactyly22 TP63

Anatomical Context for Split Hand Foot Malformation

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MalaCards organs/tissues related to Split Hand Foot Malformation:

33
B cells, Testes, Lung, Liver, Placenta, Prostate, Pons

Animal Models for Split Hand Foot Malformation or affiliated genes

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MGI Mouse Phenotypes related to Split Hand Foot Malformation:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1BHLHA9, DLX5, FBXW4, GLI2, HAND2, TP63

Publications for Split Hand Foot Malformation

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Articles related to Split Hand Foot Malformation:

(show all 48)
idTitleAuthorsYear
1
Exon sequencing identifies a novel CHRNA3-CHRNA5-CHRNB4 variant that increases the risk for chronic obstructive pulmonary disease. (25891420)
2015
2
Placenta accreta and vaginal bleeding according to gestational age at delivery. (25751201)
2015
3
French multicentric validation of ALK rearrangement diagnostic in 547 lung adenocarcinomas. (25929957)
2015
4
Hypoxia upregulates Rab11-family interacting protein 4 through HIF-1I+ to promote the metastasis of hepatocellular carcinoma. (25745995)
2015
5
Detection of host-specific immunogenic proteins in the saliva of patients with oral squamous cell carcinoma. (24295181)
2014
6
Outcome of fetoscopic laser ablation for twin-to-twin transfusion syndrome in dichorionic-triamniotic triplets compared with monochorionic-diamniotic twins. (24659447)
2014
7
Increased FDG uptake of heterotopic pancreatitis in the stomach. (23877509)
2013
8
Design features of the Diabetes and Periodontal Therapy Trial (DPTT): a multicenter randomized single-masked clinical trial testing the effect of nonsurgical periodontal therapy on glycosylated hemoglobin (HbA1c) levels in subjects with type 2 diabetes and chronic periodontitis. (24080100)
2013
9
Self-reported physical health, mental health, and comorbid diseases among women with irritable bowel syndrome, fibromyalgia, or both compared with healthy control respondents. (23139343)
2012
10
Association of the intronic rs2072621 polymorphism of the X-linked GPR50 gene with affective disorder with seasonal pattern. (21565467)
2012
11
Subclinical hypothyroidism and hyperthyroidism have opposite effects on hepatic very-low-density lipoprotein-triglyceride kinetics. (22238397)
2012
12
Margin-free, en bloc resection of a multilevel cervical chordoma with C-2 involvement: case report with 2-year follow-up and description of operative technique. (22612241)
2012
13
Anatomical variations in sinus imaging in sinusitis: a case control study. (23113381)
2012
14
Idioventricular rhythm in a patient with acute cholecystitis. (21903505)
2011
15
Development and evaluation of a latex agglutination test for the serodiagnosis of paracoccidioidomycosis. (21325485)
2011
16
Chemically modified heparin inhibits in vitro L-selectin-mediated human ovarian carcinoma cell adhesion. (19509548)
2009
17
Conformational stability of neuroglobin helix F--possible effects on the folding pathway within the globin family. (19674102)
2009
18
Fc-gamma receptor polymorphisms are not associated with autoimmune Addison's disease. (17523948)
2007
19
The Candida glabrata putative sterol transporter gene CgAUS1 protects cells against azoles in the presence of serum. (17913716)
2007
20
Correlations of polymorphisms of TGFB1 and TGFBR2 genes to genetic susceptibility to gastric cancer]. (17562261)
2007
21
Postoperative complications in patients with portal vein thrombosis after liver transplantation: evaluation with Doppler ultrasonography. (17729421)
2007
22
Catastrophic antiphospholipid syndrome: lessons from the "CAPS Registry"--a tribute to the late Josep Font. (17894009)
2007
23
Uncommon diagnosis in a patient with fever and new-onset cardiac murmur]. (16755421)
2006
24
The hemophagocytic syndrome: titrating continuous hemofiltration to the degree of lactic acidosis. (16928655)
2006
25
Glycogen phosphorylase BB in acute coronary syndromes. (16309372)
2005
26
Donor treatment with carbon monoxide can yield islet allograft survival and tolerance. (15855326)
2005
27
Associations of sex-hormone-binding globulin (SHBG) with non-SHBG-bound levels of testosterone and estradiol in independently living men. (15509641)
2005
28
Gene expression in prostate cancer cells treated with the dual 5 alpha-reductase inhibitor dutasteride. (15477368)
2004
29
A dilated fetal stomach predicts a complicated postnatal course in cases of prenatally diagnosed gastroschisis. (15167837)
2004
30
Opioid receptor ligands derived from food proteins. (12769741)
2003
31
Identification of four sites of stimulated tyrosine phosphorylation in the MUC1 cytoplasmic tail. (14521915)
2003
32
Identifying the elderly at risk for malnutrition. The Mini Nutritional Assessment. (12608501)
2002
33
Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families. (10923040)
2000
34
Ventricular and atrial septal defects, and right aortic arch associated with isolation of the left innominate artery from the aorta. (10618347)
2000
35
Parvocellular and magnocellular visual processing in spinocerebellar degeneration and Parkinson's disease: an event-related potential study. (10402092)
1999
36
Predictors of outcome in cauda equina syndrome. (10483835)
1999
37
In vitro procollagen synthesis and proliferative phenotype of bronchial fibroblasts from normal and asthmatic subjects. (9520943)
1998
38
Gonadotropin receptor mutations. (9166106)
1997
39
Induction of interferon regulatory factors 2'-5' oligoadenylate synthetase, P68 kinase and RNase L in chronic myelogenous leukaemia cells and its relationship to clinical responsiveness. (8616023)
1996
40
B cell differentiation factor-induced human B cell maturation: stimulation of intracellular calcium release. (7656331)
1995
41
Neuronal ceroid lipofuscinosis in the Polish Owczarek Nizinny (PON) dog. A retinal study. (8861635)
1995
42
Biology and potential clinical applications of flt3 ligand. (9371992)
1995
43
Inhibition of AP-1 binding and transcription by gold and selenium involving conserved cysteine residues in Jun and Fos. (7753832)
1995
44
Combination chemotherapy, glucocorticoids, and interferon alfa in the treatment of multiple myeloma: a Southwest Oncology Group study. (7964957)
1994
45
Surgical aspects of congenital aural atresia. (8065762)
1994
46
Parainfluenza virus type 3 (PIV3)-specific and non-virus-specific delayed type hypersensitivity responses in cotton rats given different PIV3 antigen preparations. (8383384)
1993
47
Diagnosis and treatment of impetigo. (3611455)
1987
48

Variations for Split Hand Foot Malformation

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Expression for genes affiliated with Split Hand Foot Malformation

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Search GEO for disease gene expression data for Split Hand Foot Malformation.

Pathways for genes affiliated with Split Hand Foot Malformation

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Pathways related to Split Hand Foot Malformation according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.0SUMO1, TP63
29.9SUMO1, UBE2I
3
Show member pathways
9.9SUMO1, UBE2I

GO Terms for genes affiliated with Split Hand Foot Malformation

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Biological processes related to Split Hand Foot Malformation according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1prostatic bud formationGO:006051310.6GLI2, TP63
2embryonic digit morphogenesisGO:004273310.0FBXW4, GLI2, HAND2
3proximal/distal pattern formationGO:000995410.0GLI2, TP63
4embryonic limb morphogenesisGO:00303269.8DLX5, FBXW4, TP63
5anatomical structure formation involved in morphogenesisGO:00486469.8DLX5, TP63
6odontogenesis of dentin-containing toothGO:00424759.8GLI2, HAND2, TP63
7positive regulation of transcription, DNA-templatedGO:00458939.7DLX5, GLI2, HAND2, TP63

Sources for Split Hand Foot Malformation

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet