SHFD2
MCID: SPL023
MIFTS: 8

Split Hand/foot Malformation X-Linked (SHFD2)

Categories: Rare diseases

Aliases & Classifications for Split Hand/foot Malformation X-Linked

MalaCards integrated aliases for Split Hand/foot Malformation X-Linked:

Name: Split Hand/foot Malformation X-Linked 52
Split Hand Foot Anomaly - X-Linked 52
Split-Hand/foot Malformation 2 71
Split Hand Foot Deformity 2 52
Shfm2 52
Shfd2 52
Shsf2 52

Classifications:



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UMLS 71 C1839258

Summaries for Split Hand/foot Malformation X-Linked

NIH Rare Diseases : 52 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.

MalaCards based summary : Split Hand/foot Malformation X-Linked, also known as split hand foot anomaly - x-linked, is related to split-hand/foot malformation 2 and split hand-foot malformation.

Related Diseases for Split Hand/foot Malformation X-Linked

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

# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 2 12.2
2 split hand-foot malformation 11.9
3 split-hand/foot malformation 1 11.2
4 split hand split foot malformation autosomal recessive 11.2
5 chromosome 2q35 duplication syndrome 10.3

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



Diseases related to Split Hand/foot Malformation X-Linked

Symptoms & Phenotypes for Split Hand/foot Malformation X-Linked

Drugs & Therapeutics for Split Hand/foot Malformation X-Linked

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

Genetic Tests for Split Hand/foot Malformation X-Linked

Anatomical Context for Split Hand/foot Malformation X-Linked

Publications for Split Hand/foot Malformation X-Linked

Articles related to Split Hand/foot Malformation X-Linked:

# Title Authors PMID Year
1
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. 61
7912888 1994

Variations for Split Hand/foot Malformation X-Linked

Expression for Split Hand/foot Malformation X-Linked

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

Pathways for Split Hand/foot Malformation X-Linked

GO Terms for Split Hand/foot Malformation X-Linked

Sources for Split Hand/foot Malformation X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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