SHFD1
MCID: SPL019
MIFTS: 17

Split Hand Foot Malformation 1 (SHFD1) malady

Categories: Rare diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Split Hand Foot Malformation 1

Aliases & Descriptions for Split Hand Foot Malformation 1:

Name: Split Hand Foot Malformation 1 50
Split-Hand/foot Malformation 1 24 29
Split Hand Foot Deformity 1 50 69
Shfm1 50 24
Split Hand/foot Malformation Type 1 13
Split Hand Malformation1 50
Split Hand Deformity 1 50
Shfd1 50

Classifications:



Summaries for Split Hand Foot Malformation 1

NIH Rare Diseases : 50 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 1, also known as split-hand/foot malformation 1, is related to split-hand/foot malformation 1 with sensorineural hearing loss and split hand-split foot malformation. An important gene associated with Split Hand Foot Malformation 1 is DLX5 (Distal-Less Homeobox 5).

Related Diseases for Split Hand Foot Malformation 1

Graphical network of the top 20 diseases related to Split Hand Foot Malformation 1:



Diseases related to Split Hand Foot Malformation 1

Symptoms & Phenotypes for Split Hand Foot Malformation 1

Drugs & Therapeutics for Split Hand Foot Malformation 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63 Recruiting NCT02896387

Search NIH Clinical Center for Split Hand Foot Malformation 1

Genetic Tests for Split Hand Foot Malformation 1

Genetic tests related to Split Hand Foot Malformation 1:

id Genetic test Affiliating Genes
1 Split-Hand/foot Malformation 1 29 24

Anatomical Context for Split Hand Foot Malformation 1

Publications for Split Hand Foot Malformation 1

Articles related to Split Hand Foot Malformation 1:

id Title Authors Year
1
Phenotypic subregions within the split-hand/foot malformation 1 locus. ( 26839112 )
2016

Variations for Split Hand Foot Malformation 1

ClinVar genetic disease variations for Split Hand Foot Malformation 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DLX5 NM_005221.5(DLX5): c.558G> T (p.Gln186His) single nucleotide variant Pathogenic rs398122527 GRCh37 Chromosome 7, 96650360: 96650360
2 DLX5 NM_005221.5(DLX5): c.115G> T (p.Glu39Ter) single nucleotide variant Pathogenic rs587777842 GRCh37 Chromosome 7, 96653821: 96653821
3 MAP3K20 NM_016653.2(MAP3K20): c.1103T> G (p.Phe368Cys) single nucleotide variant Pathogenic rs863225437 GRCh37 Chromosome 2, 174097087: 174097087

Expression for Split Hand Foot Malformation 1

Search GEO for disease gene expression data for Split Hand Foot Malformation 1.

Pathways for Split Hand Foot Malformation 1

GO Terms for Split Hand Foot Malformation 1

Biological processes related to Split Hand Foot Malformation 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 8.62 DLX5 MAP3K20

Sources for Split Hand Foot Malformation 1

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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68 Tocris
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70 UMLS via Orphanet
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