MCID: SPL050
MIFTS: 37

Split Hand-Split Foot Malformation

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Split Hand-Split Foot Malformation

MalaCards integrated aliases for Split Hand-Split Foot Malformation:

Name: Split Hand-Split Foot Malformation 55
Ectrodactyly 55 69
Split Hand Foot Malformation 55
Split-Hand/foot Malformation 69
Split Hand Foot Deformity 1 69
Split Hand Foot Deformity 69
Lobster-Claw Deformity 55
Shfm 55

Characteristics:

Orphanet epidemiological data:

55
split hand-split foot malformation
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA2440
UMLS via Orphanet 70 C0265554
ICD10 via Orphanet 33 Q71.6 Q72.7

Summaries for Split Hand-Split Foot Malformation

MalaCards based summary : Split Hand-Split Foot Malformation, also known as ectrodactyly, is related to split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive and split-hand/foot malformation 1, and has symptoms including sensorineural hearing impairment, aniridia and split hand. An important gene associated with Split Hand-Split Foot Malformation is DLX5 (Distal-Less Homeobox 5). Affiliated tissues include bone, and related phenotypes are embryo and digestive/alimentary

Related Diseases for Split Hand-Split Foot Malformation

Diseases in the Split Hand-Split Foot Malformation family:

Split Hand Split Foot Malformation Autosomal Recessive

Diseases related to Split Hand-Split Foot Malformation 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 with sensorineural hearing loss, autosomal recessive 34.4 DLX5 DLX6 SEM1
2 split-hand/foot malformation 1 32.1 DLX5 SEM1 TP63
3 split-hand/foot malformation 6 30.8 BTRC DLX5 FBXW4 LBX1 SEM1 TP63
4 split-hand/foot malformation 5 30.8 BTRC DLX5 FBXW4 SEM1 SUFU TP63
5 split hand 30.7 DLX5 FBXW4 SEM1 TP63 WNT10B
6 split hand-foot malformation 30.6 DLX5 FBXW4 SEM1 SHFM2 TP63 WNT10B
7 split-hand/foot malformation 4 30.5 BTRC DLX5 DLX6 FBXW4 SEM1 SUFU
8 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 30.0 TP63 WNT10B
9 split-hand/foot malformation 3 29.8 BTRC DLX5 FBXW4 FGF8 LBX1 SEM1
10 split-hand/foot malformation 2 28.9 BTRC DLX5 DLX6 DYNC1I1 FBXW4 FGF8
11 split foot 26.2 BTRC DLX5 DLX6 DYNC1I1 EPS15L1 FBXW4
12 ulnar hypoplasia with lobster-claw deformity of feet 12.5
13 split hand split foot malformation autosomal recessive 12.4
14 acrorenal-mandibular syndrome 11.3
15 branchiootic syndrome 1 10.3
16 paranoid personality disorder 10.2 DLX5 DYNC1I1 SEM1
17 alacrima, achalasia, and mental retardation syndrome 10.1
18 ear malformation 10.1
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
20 polykaryocytosis inducer 10.1
21 split hand/foot malformation x-linked 10.1
22 vertical talus, congenital 10.1
23 limb-mammary syndrome 10.1
24 rapp-hodgkin syndrome 10.0 DLX5 DLX6 SEM1 TP63
25 microform holoprosencephaly 9.8 FGF8 SUFU
26 orofacial cleft 9.8 DLX5 DLX6 FGF8 TP63

Graphical network of the top 20 diseases related to Split Hand-Split Foot Malformation:



Diseases related to Split Hand-Split Foot Malformation

Symptoms & Phenotypes for Split Hand-Split Foot Malformation

Human phenotypes related to Split Hand-Split Foot Malformation:

55 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
2 aniridia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000526
3 split hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0001171
4 absent hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0004050
5 finger syndactyly 55 31 frequent (33%) Frequent (79-30%) HP:0006101
6 oligodactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0012165

MGI Mouse Phenotypes related to Split Hand-Split Foot Malformation:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.86 DLX5 DLX6 FBXW4 FGF8 LBX1 SUFU
2 digestive/alimentary MP:0005381 9.8 BTRC DLX5 DLX6 FGF8 SUFU TP63
3 limbs/digits/tail MP:0005371 9.76 DLX5 DLX6 FBXW4 FGF8 LBX1 RBP4
4 muscle MP:0005369 9.5 DLX5 FGF8 HMX2 LBX1 RBP4 TP63
5 skeleton MP:0005390 9.23 DLX6 FBXW4 FGF8 RBP4 SUFU TP63

Drugs & Therapeutics for Split Hand-Split Foot Malformation

Search Clinical Trials , NIH Clinical Center for Split Hand-Split Foot Malformation

Genetic Tests for Split Hand-Split Foot Malformation

Anatomical Context for Split Hand-Split Foot Malformation

MalaCards organs/tissues related to Split Hand-Split Foot Malformation:

38
Bone

Publications for Split Hand-Split Foot Malformation

Articles related to Split Hand-Split Foot Malformation:

(show all 33)
# Title Authors Year
1
First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation. ( 29023680 )
2017
2
7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance. ( 26075025 )
2015
3
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. ( 24459211 )
2014
4
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I. ( 25332435 )
2014
5
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. ( 25231166 )
2014
6
A 0.7a88Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation. ( 23169702 )
2012
7
A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation. ( 21700002 )
2011
8
Historical note: an analysis of a 17th century illustration of a child with split hand/split foot malformation. ( 21455467 )
2010
9
First-trimester diagnosis of familial split-hand/split-foot malformation. ( 19778890 )
2009
10
Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4. ( 17878916 )
2008
11
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. ( 16691619 )
2006
12
Split-hand/split-foot malformation associated with maternal valproate consumption. ( 16010085 )
2005
13
Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes. ( 15617554 )
2005
14
Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. ( 16235095 )
2005
15
Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). ( 15232212 )
2004
16
Pathogenesis of split-hand/split-foot malformation. ( 12668597 )
2003
17
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. ( 12913067 )
2003
18
Deletion mapping of split hand/split foot malformation with hearing impairment: a case report. ( 14550969 )
2003
19
Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. ( 12072797 )
2002
20
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. ( 11462173 )
2001
21
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. ( 11557033 )
2001
22
Split-hand/split-foot malformation with paternal mutation in the p63 gene. ( 11787035 )
2001
23
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3. ( 11424924 )
2001
24
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. ( 11168022 )
2001
25
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. ( 10839977 )
2000
26
SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast. ( 9927667 )
1999
27
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. ( 9004130 )
1996
28
Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. ( 8782053 )
1996
29
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. ( 8733122 )
1996
30
Heterogeneity of the autosomal dominant split hand/split foot malformation. ( 7825599 )
1995
31
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. ( 7912888 )
1994
32
On the inheritance of the split hand/split foot malformation. ( 7802032 )
1994
33
Anomalous inheritance in a kindred with split hand, split foot malformation. ( 3366140 )
1988

Variations for Split Hand-Split Foot Malformation

Expression for Split Hand-Split Foot Malformation

Search GEO for disease gene expression data for Split Hand-Split Foot Malformation.

Pathways for Split Hand-Split Foot Malformation

GO Terms for Split Hand-Split Foot Malformation

Biological processes related to Split Hand-Split Foot Malformation according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of canonical Wnt signaling pathway GO:0090263 9.69 DLX5 SEM1 WNT10B
2 skeletal system development GO:0001501 9.67 DLX5 DLX6 SUFU TP63
3 epithelial cell differentiation GO:0030855 9.65 DLX5 DLX6 TP63
4 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.63 BTRC FBXW4 SEM1
5 heart looping GO:0001947 9.61 FGF8 LBX1 SUFU
6 embryonic hindlimb morphogenesis GO:0035116 9.55 FGF8 TP63
7 positive regulation of mesenchymal cell proliferation GO:0002053 9.54 FBXW4 TP63
8 negative regulation of smoothened signaling pathway GO:0045879 9.52 BTRC SUFU
9 head development GO:0060322 9.49 DLX5 DLX6
10 inner ear morphogenesis GO:0042472 9.46 DLX5 DLX6 FGF8 HMX2
11 anatomical structure formation involved in morphogenesis GO:0048646 9.43 DLX5 DLX6 TP63
12 urinary bladder development GO:0060157 9.4 RBP4 TP63
13 female genitalia morphogenesis GO:0048807 9.32 RBP4 TP63
14 multicellular organism development GO:0007275 9.32 DLX5 DLX6 FBXW4 FGF8 HMX2 LBX1
15 embryonic limb morphogenesis GO:0030326 9.26 DLX5 DLX6 FBXW4 TP63

Molecular functions related to Split Hand-Split Foot Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.1 DLX5 DLX6 HMX2 LBX1 TLX1 TP63

Sources for Split Hand-Split Foot Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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