SHFD2
MCID: SPL023
MIFTS: 9

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 20
Split Hand Foot Anomaly - X-Linked 20
Split-Hand/foot Malformation 2 70
Split Hand Foot Deformity 2 20
Shfm2 20
Shfd2 20
Shsf2 20

Classifications:



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UMLS 70 C1839258

Summaries for Split Hand/foot Malformation X-Linked

GARD : 20 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 and split-hand/foot malformation 2. Affiliated tissues include prostate.

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 11.2
2 split-hand/foot malformation 2 11.2
3 split hand split foot malformation autosomal recessive 10.9
4 chromosome 2q35 duplication syndrome 10.0

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

MalaCards organs/tissues related to Split Hand/foot Malformation X-Linked:

40
Prostate

Publications for Split Hand/foot Malformation X-Linked

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

# Title Authors PMID Year
1
Preclinical studies show using enzalutamide is less effective in docetaxel-pretreated than in docetaxel-naïve prostate cancer cells. 61
32920545 2020
2
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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