SHFLD2
MCID: SPL047
MIFTS: 10

Split-Hand/foot Malformation with Long Bone Deficiency 2 (SHFLD2)

Categories: Bone diseases

Aliases & Classifications for Split-Hand/foot Malformation with Long Bone Deficiency 2

MalaCards integrated aliases for Split-Hand/foot Malformation with Long Bone Deficiency 2:

Name: Split-Hand/foot Malformation with Long Bone Deficiency 2 57 13
Split-Hand-Foot Malformation with Long Bone Deficiency 2 70
Shfld2 57

Classifications:



External Ids:

OMIM® 57 610685
UMLS 70 C1853156

Summaries for Split-Hand/foot Malformation with Long Bone Deficiency 2

MalaCards based summary : Split-Hand/foot Malformation with Long Bone Deficiency 2, also known as split-hand-foot malformation with long bone deficiency 2, is related to split hand-foot malformation. An important gene associated with Split-Hand/foot Malformation with Long Bone Deficiency 2 is SHFLD2 (Split-Hand/Foot Malformation With Long Deficiency 2). Affiliated tissues include bone.

More information from OMIM: 610685

Related Diseases for Split-Hand/foot Malformation with Long Bone Deficiency 2

Diseases related to Split-Hand/foot Malformation with Long Bone Deficiency 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 split hand-foot malformation 11.0

Symptoms & Phenotypes for Split-Hand/foot Malformation with Long Bone Deficiency 2

Clinical features from OMIM®:

610685 (Updated 05-Apr-2021)

Drugs & Therapeutics for Split-Hand/foot Malformation with Long Bone Deficiency 2

Search Clinical Trials , NIH Clinical Center for Split-Hand/foot Malformation with Long Bone Deficiency 2

Genetic Tests for Split-Hand/foot Malformation with Long Bone Deficiency 2

Anatomical Context for Split-Hand/foot Malformation with Long Bone Deficiency 2

MalaCards organs/tissues related to Split-Hand/foot Malformation with Long Bone Deficiency 2:

40
Bone

Publications for Split-Hand/foot Malformation with Long Bone Deficiency 2

Articles related to Split-Hand/foot Malformation with Long Bone Deficiency 2:

# Title Authors PMID Year
1
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. 57
17160898 2007
2
Heterogeneity of the autosomal dominant split hand/split foot malformation. 57
7825599 1995
3
On the inheritance of the split hand/split foot malformation. 57
7802032 1994

Variations for Split-Hand/foot Malformation with Long Bone Deficiency 2

Expression for Split-Hand/foot Malformation with Long Bone Deficiency 2

Search GEO for disease gene expression data for Split-Hand/foot Malformation with Long Bone Deficiency 2.

Pathways for Split-Hand/foot Malformation with Long Bone Deficiency 2

GO Terms for Split-Hand/foot Malformation with Long Bone Deficiency 2

Sources for Split-Hand/foot Malformation with Long Bone Deficiency 2

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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