MCID: SPL025
MIFTS: 32

Split-Hand/foot Malformation 5

Categories: Bone diseases, Rare diseases, Ear diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Split-Hand/foot Malformation 5

MalaCards integrated aliases for Split-Hand/foot Malformation 5:

Name: Split-Hand/foot Malformation 5 57 29 13 73
Split Hand-Foot Malformation 5 12 15
Shfm5 57 12

Classifications:



External Ids:

OMIM 57 606708
Disease Ontology 12 DOID:0090022
ICD10 33 Q71.6
MedGen 42 C1847622

Summaries for Split-Hand/foot Malformation 5

OMIM : 57 Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM5 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600). (606708)

MalaCards based summary : Split-Hand/foot Malformation 5, also known as split hand-foot malformation 5, is related to split hand-foot malformation and ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1. An important gene associated with Split-Hand/foot Malformation 5 is SHFM5 (Split Hand/Foot Malformation (Ectrodactyly) Type 5), and among its related pathways/superpathways is Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. Affiliated tissues include bone, and related phenotypes are digestive/alimentary and cardiovascular system

Disease Ontology : 12 A split-hand/foot malformation that has material basis in deletions in the chromosome region 2q31.

Related Diseases for Split-Hand/foot Malformation 5

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation 5:



Diseases related to Split-Hand/foot Malformation 5

Symptoms & Phenotypes for Split-Hand/foot Malformation 5

Clinical features from OMIM:

606708

MGI Mouse Phenotypes related to Split-Hand/foot Malformation 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.09 BTRC DLX1 DLX2 DLX5 HMOX2 HOXD13
2 cardiovascular system MP:0005385 10.06 BTRC DLX1 DLX2 DLX5 HMOX2 SNCA
3 growth/size/body region MP:0005378 10.06 BTRC DLX1 DLX2 DLX5 EVX2 HOXD13
4 mortality/aging MP:0010768 10.06 BTRC DLX1 DLX2 DLX5 EVX2 FBXW4
5 limbs/digits/tail MP:0005371 9.85 DLX5 EVX2 FBXW4 HOXD13 SUFU TP63
6 no phenotypic analysis MP:0003012 9.76 SNCA SUFU TP63 WNT10B DLX1 EVX2
7 muscle MP:0005369 9.73 DLX2 DLX5 HMOX2 HOXD13 TP63 WNT10B
8 skeleton MP:0005390 9.65 BTRC DLX1 DLX2 DLX5 EVX2 FBXW4
9 taste/olfaction MP:0005394 8.8 DLX5 SNCA TP63

Drugs & Therapeutics for Split-Hand/foot Malformation 5

Search Clinical Trials , NIH Clinical Center for Split-Hand/foot Malformation 5

Genetic Tests for Split-Hand/foot Malformation 5

Genetic tests related to Split-Hand/foot Malformation 5:

# Genetic test Affiliating Genes
1 Split-Hand/foot Malformation 5 29

Anatomical Context for Split-Hand/foot Malformation 5

MalaCards organs/tissues related to Split-Hand/foot Malformation 5:

41
Bone

Publications for Split-Hand/foot Malformation 5

Articles related to Split-Hand/foot Malformation 5:

# Title Authors Year
1
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. ( 22140379 )
2010

Variations for Split-Hand/foot Malformation 5

Expression for Split-Hand/foot Malformation 5

Search GEO for disease gene expression data for Split-Hand/foot Malformation 5.

Pathways for Split-Hand/foot Malformation 5

Pathways related to Split-Hand/foot Malformation 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.98 BTRC SUFU WNT10B

GO Terms for Split-Hand/foot Malformation 5

Biological processes related to Split-Hand/foot Malformation 5 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 DLX1 DLX2 SNCA SUFU TP63 WNT10B
2 positive regulation of canonical Wnt signaling pathway GO:0090263 9.75 DLX5 SEM1 WNT10B
3 skeletal system development GO:0001501 9.71 DLX5 HOXD13 SUFU TP63
4 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.7 BTRC FBXW4 SEM1
5 odontogenesis of dentin-containing tooth GO:0042475 9.67 DLX1 DLX2 TP63
6 embryonic skeletal system development GO:0048706 9.62 DLX1 DLX2
7 cellular response to BMP stimulus GO:0071773 9.61 DLX1 DLX5
8 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 FBXW4 TP63
9 limb morphogenesis GO:0035108 9.6 EVX2 HOXD13
10 negative regulation of smoothened signaling pathway GO:0045879 9.59 BTRC SUFU
11 anatomical structure formation involved in morphogenesis GO:0048646 9.58 DLX5 TP63
12 prostate gland development GO:0030850 9.57 HOXD13 TP63
13 negative regulation of oligodendrocyte differentiation GO:0048715 9.55 DLX1 DLX2
14 forebrain neuron differentiation GO:0021879 9.54 DLX1 DLX2
15 negative regulation of photoreceptor cell differentiation GO:0046533 9.51 DLX1 DLX2
16 subpallium development GO:0021544 9.48 DLX1 DLX2
17 cerebral cortex GABAergic interneuron differentiation GO:0021892 9.43 DLX1 DLX2
18 regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment GO:0021882 9.37 DLX1 DLX2
19 proximal/distal pattern formation GO:0009954 9.33 DLX1 DLX2 TP63
20 positive regulation of amacrine cell differentiation GO:1902871 9.32 DLX1 DLX2
21 multicellular organism development GO:0007275 9.28 DLX1 DLX2 DLX5 EVX2 FBXW4 HOXD13
22 cerebral cortex GABAergic interneuron fate commitment GO:0021893 9.26 DLX1 DLX2
23 embryonic limb morphogenesis GO:0030326 9.26 DLX5 FBXW4 HOXD13 TP63
24 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 DLX1 DLX2 DLX5 HOXD13 TP63 WNT10B

Molecular functions related to Split-Hand/foot Malformation 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.73 DLX1 DLX2 DLX5 EVX2 HOXD13 TP63
2 DNA binding GO:0003677 9.7 DLX1 DLX2 DLX5 EVX2 HOXD13 POLL
3 chromatin binding GO:0003682 9.26 DLX1 DLX2 HOXD13 TP63
4 sequence-specific DNA binding GO:0043565 9.1 DLX1 DLX2 DLX5 EVX2 HOXD13 TP63

Sources for Split-Hand/foot Malformation 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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