SHFM2
MCID: SPL070
MIFTS: 37

Split-Hand/foot Malformation 2 (SHFM2)

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

Aliases & Classifications for Split-Hand/foot Malformation 2

MalaCards integrated aliases for Split-Hand/foot Malformation 2:

Name: Split-Hand/foot Malformation 2 57 72
Split Hand-Foot Malformation 2 12 15
Shfm2 57 12
Split-Hand/split-Foot Anomaly, X-Linked 57
Split Hand/foot Malformation, Type 2 13
Split-Hand/foot Deformity 2; Shfd2 57
Split Hand/foot Malformation 2 57
Split-Hand/foot Deformity 2 57
Shfd2 57
Shsf2 57

Characteristics:

OMIM:

57
Inheritance:
x-linked (xq26)


HPO:

32
split-hand/foot malformation 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090027
ICD9CM 35 755.58
MeSH 44 C574275
SNOMED-CT 68 13624003 81208006
ICD10 33 Q71.6 Q71.60
MedGen 42 C1839258
UMLS 72 C0265554 C1839258

Summaries for Split-Hand/foot Malformation 2

OMIM : 57 Split-hand/split-foot malformation 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 (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity of split-hand/split-foot malformation, see SHFM1 (183600). (313350)

MalaCards based summary : Split-Hand/foot Malformation 2, also known as split hand-foot malformation 2, is related to split-hand/foot malformation 1 and split hand-foot malformation. An important gene associated with Split-Hand/foot Malformation 2 is DLX6-AS1 (DLX6 Antisense RNA 1), and among its related pathways/superpathways is Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. Affiliated tissues include bone, heart and eye, and related phenotypes are finger syndactyly and split hand

Disease Ontology : 12 A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.

Related Diseases for Split-Hand/foot Malformation 2

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation 2:



Diseases related to Split-Hand/foot Malformation 2

Symptoms & Phenotypes for Split-Hand/foot Malformation 2

Human phenotypes related to Split-Hand/foot Malformation 2:

32
# Description HPO Frequency HPO Source Accession
1 finger syndactyly 32 HP:0006101
2 split hand 32 HP:0001171
3 short metacarpal 32 HP:0010049
4 short phalanx of finger 32 HP:0009803
5 split foot 32 HP:0001839

Symptoms via clinical synopsis from OMIM:

57
Limbs:
phalangeal hypoplasia
split-hand
split-foot
metacarpal hypoplasia
partial syndactyly
more
Misc:
heterozygous females show milder expression

Clinical features from OMIM:

313350

MGI Mouse Phenotypes related to Split-Hand/foot Malformation 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 BTRC DLX1 DLX2 DLX5 FGF8 PAX2
2 digestive/alimentary MP:0005381 10.06 BTRC DLX1 DLX2 DLX5 DLX6 FGF8
3 craniofacial MP:0005382 9.98 DLX1 DLX2 DLX5 DLX6 FGF8 SUFU
4 embryo MP:0005380 9.97 DLX5 DLX6 FBXW4 FGF8 PAX2 SUFU
5 mortality/aging MP:0010768 9.9 BTRC DLX1 DLX2 DLX5 DLX6 FBXW4
6 hearing/vestibular/ear MP:0005377 9.8 DLX1 DLX2 DLX5 DLX6 FGF8 PAX2
7 limbs/digits/tail MP:0005371 9.73 DLX5 DLX6 FBXW4 FGF8 SUFU TP63
8 no phenotypic analysis MP:0003012 9.5 DLX1 DYNC1I1 FBXW4 SNCA SUFU TP63
9 skeleton MP:0005390 9.32 BTRC DLX1 DLX2 DLX5 DLX6 FBXW4

Drugs & Therapeutics for Split-Hand/foot Malformation 2

Search Clinical Trials , NIH Clinical Center for Split-Hand/foot Malformation 2

Genetic Tests for Split-Hand/foot Malformation 2

Anatomical Context for Split-Hand/foot Malformation 2

MalaCards organs/tissues related to Split-Hand/foot Malformation 2:

41
Bone, Heart, Eye

Publications for Split-Hand/foot Malformation 2

Articles related to Split-Hand/foot Malformation 2:

(show all 18)
# Title Authors PMID Year
1
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. 38 8
15617554 2005
2
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. 8
16688749 2006
3
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. 8
7912888 1994
4
X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred. 8
3817811 1987
5
Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types. 8
7389732 1980
6
Duplication of 10q24 locus: broadening the clinical and radiological spectrum. 38
30622331 2019
7
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. 38
24459211 2014
8
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. 38
21554266 2012
9
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. 38
21485001 2011
10
The association of split hand foot malformation (SHFM) and congenital heart defects. 38
18383509 2008
11
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. 38
16691619 2006
12
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. 38
16761290 2006
13
[A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family]. 38
16681918 2006
14
Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). 38
15232212 2004
15
Association of ectrodactyly and distal phocomelia. 38
12416640 2002
16
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. 38
10330351 1999
17
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. 38
9004130 1996
18
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. 38
8589697 1995

Variations for Split-Hand/foot Malformation 2

Expression for Split-Hand/foot Malformation 2

Search GEO for disease gene expression data for Split-Hand/foot Malformation 2.

Pathways for Split-Hand/foot Malformation 2

Pathways related to Split-Hand/foot Malformation 2 according to GeneCards Suite gene sharing:

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

GO Terms for Split-Hand/foot Malformation 2

Biological processes related to Split-Hand/foot Malformation 2 according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.8 SNCA FGF8 DLX1
2 skeletal system development GO:0001501 9.78 TP63 SUFU DLX6 DLX5
3 epithelial cell differentiation GO:0030855 9.76 TP63 DLX6 DLX5
4 positive regulation of epithelial cell proliferation GO:0050679 9.74 PAX2 DLX6 DLX5
5 odontogenesis of dentin-containing tooth GO:0042475 9.73 TP63 DLX2 DLX1
6 positive regulation of cell differentiation GO:0045597 9.7 FGF8 DLX2 DLX1
7 embryonic hindlimb morphogenesis GO:0035116 9.63 TP63 FGF8
8 negative regulation of smoothened signaling pathway GO:0045879 9.63 SUFU BTRC
9 head development GO:0060322 9.62 DLX6 DLX5
10 mesonephros development GO:0001823 9.61 PAX2 FGF8
11 negative regulation of oligodendrocyte differentiation GO:0048715 9.6 DLX2 DLX1
12 forebrain neuron differentiation GO:0021879 9.59 DLX2 DLX1
13 inner ear morphogenesis GO:0042472 9.56 PAX2 FGF8 DLX6 DLX5
14 negative regulation of photoreceptor cell differentiation GO:0046533 9.55 DLX2 DLX1
15 proximal/distal pattern formation GO:0009954 9.54 TP63 DLX2 DLX1
16 anatomical structure formation involved in morphogenesis GO:0048646 9.5 TP63 DLX6 DLX5
17 cerebral cortex GABAergic interneuron differentiation GO:0021892 9.49 DLX2 DLX1
18 regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment GO:0021882 9.46 DLX2 DLX1
19 embryonic limb morphogenesis GO:0030326 9.46 TP63 FBXW4 DLX6 DLX5
20 positive regulation of amacrine cell differentiation GO:1902871 9.43 DLX2 DLX1
21 cerebral cortex GABAergic interneuron fate commitment GO:0021893 9.4 DLX2 DLX1
22 multicellular organism development GO:0007275 9.36 WNT10B TP63 TLX1 SUFU PAX2 FGF8
23 transcription by RNA polymerase II GO:0006366 9.31 PAX2
24 subpallium development GO:0021544 9.13 FGF8 DLX2 DLX1
25 regulation of transcription, DNA-templated GO:0006355 10.11 TP63 TLX1 SUFU PAX2 DLX6 DLX5
26 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 WNT10B TP63 TLX1 PAX2 DLX5 DLX2
27 negative regulation of transcription by RNA polymerase II GO:0000122 10.05 WNT10B TP63 SUFU SNCA DLX2 DLX1

Molecular functions related to Split-Hand/foot Malformation 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.86 TP63 TLX1 POLL PAX2 DLX6 DLX5
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 TP63 TLX1 PAX2 DLX6 DLX5 DLX2
3 transcription regulatory region DNA binding GO:0044212 9.26 TP63 SNCA PAX2 DLX5
4 sequence-specific DNA binding GO:0043565 9.1 TP63 TLX1 DLX6 DLX5 DLX2 DLX1

Sources for Split-Hand/foot Malformation 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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