MCID: SPL050
MIFTS: 34

Split Hand-Split Foot Malformation

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Split Hand-Split Foot Malformation

MalaCards integrated aliases for Split Hand-Split Foot Malformation:

Name: Split Hand-Split Foot Malformation 56
Ectrodactyly 56 69
Split Hand Foot Malformation 56
Split-Hand/foot Malformation 69
Split Hand Foot Deformity 1 69
Split Hand Foot Deformity 69
Lobster-Claw Deformity 56
Shfm 56

Characteristics:

Orphanet epidemiological data:

56
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 56 ORPHA2440
UMLS via Orphanet 70 C0265554
ICD10 via Orphanet 34 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 and ulnar hypoplasia with lobster-claw deformity of feet, 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 35)
id Related Disease Score Top Affiliating Genes
1 split hand-foot malformation 1 12.6
2 ulnar hypoplasia with lobster-claw deformity of feet 12.4
3 split hand split foot malformation autosomal recessive 12.3
4 ectodermal dysplasia, ectrodactyly, and macular dystrophy 12.1
5 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.1
6 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 11.9
7 fibular aplasia ectrodactyly 11.9
8 femur bifid with monodactylous ectrodactyly 11.9
9 split hand-foot malformation 11.3
10 split-hand/foot malformation 5 11.2
11 split-hand/foot malformation 4 11.2
12 split-hand/foot malformation 6 11.2
13 acrorenal-mandibular syndrome 11.2
14 split-hand/foot malformation 3 11.2
15 split foot 10.8
16 split hand 10.8
17 myoclonic dystonia 15 10.4 DLX5 SEM1
18 intracranial aneurysm 10.2 DLX5 DYNC1I1 SEM1
19 hydrops fetalis, nonimmune, and/or atrial septal defect 10.2 DLX5 DLX6 SEM1
20 myelodysplasia and leukemia syndrome with monosomy 7 10.1 DLX5 DLX6
21 hypomyelinating leukodystrophy 10.1 TP63 WNT10B
22 pelizaeus-merzbacher disease in female carriers 10.0 FGF8 SUFU
23 hypotrichosis 7 10.0 DLX5 DLX6 SEM1 TP63
24 limb-mammary syndrome 10.0
25 eec syndrome 10.0
26 intellectual disability 10.0
27 tooth agenesis, selective, 8 9.8 DLX5 SEM1 TP63 WNT10B
28 congenital absence of both forearm and hand 9.6 DLX5 FBXW4 SEM1 TP63 WNT10B
29 split hand-foot malformation 2 9.6 DLX5 FBXW4 SEM1 TP63 WNT10B
30 cardiomyopathy, familial hypertrophic, 9 9.0 BTRC DLX5 FBXW4 SEM1 SUFU TP63
31 hay-wells syndrome 8.7 BTRC DLX5 DLX6 FBXW4 SEM1 SUFU
32 sonoda syndrome 7.7 BTRC DLX5 FBXW4 FGF8 LBX1 SEM1
33 torsion dystonia 13 7.4 BTRC DLX5 DLX6 DYNC1I1 FBXW4 FGF8
34 congenital absence of thigh and lower leg with foot present 5.4 BTRC DLX5 DLX6 DYNC1I1 EPS15L1 FBXW4
35 lower limb deficiency-hypospadias syndrome 4.9 BTRC DLX5 DLX6 DYNC1I1 EPS15L1 FBXW4

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:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
2 aniridia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000526
3 split hand 56 32 occasional (7.5%) Occasional (29-5%) HP:0001171
4 absent hand 56 32 occasional (7.5%) Occasional (29-5%) HP:0004050
5 finger syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006101
6 oligodactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0012165

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.86 FBXW4 FGF8 LBX1 SUFU TLX1 TP63
2 digestive/alimentary MP:0005381 9.8 FGF8 SUFU BTRC TP63 DLX5 DLX6
3 limbs/digits/tail MP:0005371 9.7 FGF8 LBX1 SUFU TP63 DLX5 DLX6
4 muscle MP:0005369 9.5 FGF8 HMX2 LBX1 RBP4 TP63 DLX5
5 skeleton MP:0005390 9.17 FBXW4 FGF8 SUFU BTRC TP63 DLX5

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:

39
Bone

Publications for Split Hand-Split Foot Malformation

Articles related to Split Hand-Split Foot Malformation:

(show all 32)
id Title Authors Year
1
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
2
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
3
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
4
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I. ( 25332435 )
2014
5
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
6
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
7
Historical note: an analysis of a 17th century illustration of a child with split hand/split foot malformation. ( 21455467 )
2010
8
First-trimester diagnosis of familial split-hand/split-foot malformation. ( 19778890 )
2009
9
Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4. ( 17878916 )
2008
10
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. ( 16691619 )
2006
11
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
12
Split-hand/split-foot malformation associated with maternal valproate consumption. ( 16010085 )
2005
13
Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. ( 16235095 )
2005
14
Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). ( 15232212 )
2004
15
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. ( 12913067 )
2003
16
Deletion mapping of split hand/split foot malformation with hearing impairment: a case report. ( 14550969 )
2003
17
Pathogenesis of split-hand/split-foot malformation. ( 12668597 )
2003
18
Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. ( 12072797 )
2002
19
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. ( 11168022 )
2001
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
Split-hand/split-foot malformation with paternal mutation in the p63 gene. ( 11787035 )
2001
22
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. ( 11557033 )
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 is caused by mutations in the p63 gene on 3q27. ( 10839977 )
2000
25
SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast. ( 9927667 )
1999
26
Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. ( 8782053 )
1996
27
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. ( 9004130 )
1996
28
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
29
Heterogeneity of the autosomal dominant split hand/split foot malformation. ( 7825599 )
1995
30
On the inheritance of the split hand/split foot malformation. ( 7802032 )
1994
31
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. ( 7912888 )
1994
32
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 14)
id 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 positive regulation of mesenchymal cell proliferation GO:0002053 9.54 FBXW4 TP63
7 negative regulation of smoothened signaling pathway GO:0045879 9.52 BTRC SUFU
8 head development GO:0060322 9.49 DLX5 DLX6
9 inner ear morphogenesis GO:0042472 9.46 DLX5 DLX6 FGF8 HMX2
10 anatomical structure formation involved in morphogenesis GO:0048646 9.43 DLX5 DLX6 TP63
11 urinary bladder development GO:0060157 9.4 RBP4 TP63
12 female genitalia morphogenesis GO:0048807 9.32 RBP4 TP63
13 multicellular organism development GO:0007275 9.32 DLX5 DLX6 FBXW4 FGF8 HMX2 LBX1
14 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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