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 53
Split Hand Foot Anomaly - X-Linked 53
Split-Hand/foot Malformation 2 72
Split Hand Foot Deformity 2 53
Shfm2 53
Shfd2 53
Shsf2 53

Classifications:



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UMLS 72 C1839258

Summaries for Split Hand/foot Malformation X-Linked

NIH Rare Diseases : 53 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 1.

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 1 11.9
3 split hand-foot malformation 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. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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