SHFM5
MCID: SPL025
MIFTS: 29

Split-Hand/foot Malformation 5 (SHFM5)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 70
Split Hand-Foot Malformation 5 12 15
Shfm5 57 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0090022
OMIM® 57 606708
OMIM Phenotypic Series 57 PS183600
ICD9CM 34 755.58
MeSH 44 C574275
SNOMED-CT 67 81208006
ICD10 32 Q71.6
MedGen 41 C1847622
UMLS 70 C0265554 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) (Updated 05-Apr-2021)

MalaCards based summary : Split-Hand/foot Malformation 5, also known as split hand-foot malformation 5, is related to split-hand/foot malformation 1 and cleft palate, isolated. 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 MECP2 and Associated Rett Syndrome. Affiliated tissues include eye, and related phenotype is limbs/digits/tail.

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

Diseases in the Split Hand-Foot Malformation family:

Split-Hand/foot Malformation 1 Split-Hand/foot Malformation 6
Split-Hand/foot Malformation 3 Split-Hand/foot Malformation 2
Split-Hand/foot Malformation 4 Split-Hand/foot Malformation 5

Diseases related to Split-Hand/foot Malformation 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 29.9 TP63 SEM1 DLX5
2 cleft palate, isolated 29.5 TP63 DLX6 DLX5
3 isolated split hand-split foot malformation 29.4 TP63 SEM1 DLX6 DLX5
4 split hand-foot malformation 28.4 TP63 SHFM5 SEM1 FBXW4 DLX6 DLX5
5 chromosome 2q35 duplication syndrome 28.0 TP63 SEM1 FBXW4 EVX2 DLX6 DLX5
6 split hand split foot malformation autosomal recessive 10.9
7 split hand/foot malformation x-linked 10.9
8 alacrima, achalasia, and mental retardation syndrome 10.2
9 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
10 brachydactyly 10.2
11 microcephaly 10.2
12 ventricular septal defect 9.9
13 chromosome 2q deletion 9.9
14 agnathia-otocephaly complex 9.9 DLX6 DLX5
15 lacrimoauriculodentodigital syndrome 9.8 FBXW4 BHLHA9
16 orofacial cleft 4 9.7 TP63 SEM1 DLX6
17 orofacial cleft 9.6 TP63 DLX6 DLX5
18 chromosomal duplication syndrome 9.6 FBXW4 BHLHA9
19 orofacial cleft 8 9.6 TP63 DLX6 DLX5
20 rapp-hodgkin syndrome 9.6 TP63 DLX6 DLX5
21 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 9.3 TP63 DLX6 DLX5 BHLHA9
22 split-hand/foot malformation 3 9.2 SEM1 FBXW4 DLX6 DLX5 BHLHA9
23 split-hand/foot malformation 4 9.0 TP63 SEM1 FBXW4 DLX6 DLX5 BHLHA9
24 split-hand/foot malformation 2 9.0 TP63 SEM1 FBXW4 DLX6 DLX5 BHLHA9
25 split-hand/foot malformation 6 9.0 TP63 SEM1 FBXW4 DLX6 DLX5 BHLHA9
26 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 8.9 TP63 SEM1 FBXW4 DLX6 DLX5 BHLHA9

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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.1 BHLHA9 DLX5 DLX6 EVX2 FBXW4 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:

40
Eye

Publications for Split-Hand/foot Malformation 5

Articles related to Split-Hand/foot Malformation 5:

(show all 19)
# Title Authors PMID Year
1
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. 57
16688749 2006
2
Discrepancies in upper and lower limb patterning in split hand foot malformation. 57
16207208 2005
3
Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome. 57
15809993 2005
4
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. 57
11778160 2002
5
Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome? 57
10649798 2000
6
Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. 57
10364522 1999
7
Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review. 57
7717414 1995
8
Duplication of 10q24 locus: broadening the clinical and radiological spectrum. 61
30622331 2019
9
Split-hand/foot malformation - molecular cause and implications in genetic counseling. 61
24163146 2014
10
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. 61
21554266 2012
11
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. 61
21485001 2011
12
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. 61
21068127 2011
13
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. 61
22140379 2010
14
The association of split hand foot malformation (SHFM) and congenital heart defects. 61
18383509 2008
15
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. 61
16691619 2006
16
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. 61
16761290 2006
17
[A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family]. 61
16681918 2006
18
Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus. 61
15662696 2005
19
Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). 61
15232212 2004

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 10.42 DLX6 DLX5

GO Terms for Split-Hand/foot Malformation 5

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.02 TP63 EVX2 DLX6 DLX5 BHLHA9

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.85 TP63 EVX2 DLX6 DLX5 BHLHA9
2 multicellular organism development GO:0007275 9.63 TP63 FBXW4 EVX2 DLX6 DLX5 BHLHA9
3 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.52 SEM1 FBXW4
4 roof of mouth development GO:0060021 9.51 DLX6 DLX5
5 skeletal system development GO:0001501 9.5 TP63 DLX6 DLX5
6 positive regulation of epithelial cell proliferation GO:0050679 9.49 DLX6 DLX5
7 inner ear morphogenesis GO:0042472 9.48 DLX6 DLX5
8 developmental process GO:0032502 9.43 TP63 BHLHA9
9 epithelial cell differentiation GO:0030855 9.43 TP63 DLX6 DLX5
10 head development GO:0060322 9.4 DLX6 DLX5
11 embryo development GO:0009790 9.37 DLX6 DLX5
12 anatomical structure formation involved in morphogenesis GO:0048646 9.13 TP63 DLX6 DLX5
13 embryonic limb morphogenesis GO:0030326 8.92 TP63 FBXW4 DLX6 DLX5

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 proximal promoter sequence-specific DNA binding GO:0000978 9.46 TP63 EVX2 DLX6 DLX5
2 sequence-specific double-stranded DNA binding GO:1990837 9.43 EVX2 DLX6 DLX5
3 DNA binding GO:0003677 9.35 TP63 EVX2 DLX6 DLX5 BHLHA9
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.02 TP63 EVX2 DLX6 DLX5 BHLHA9

Sources for Split-Hand/foot Malformation 5

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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