SHFM2
MCID: SPL070
MIFTS: 32

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 70
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 (Updated 05-Apr-2021)
Inheritance:
x-linked (xq26)


HPO:

31
split-hand/foot malformation 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090027
OMIM® 57 313350
OMIM Phenotypic Series 57 PS183600
ICD9CM 34 755.58
MeSH 44 C574275
SNOMED-CT 67 81208006
ICD10 32 Q71.6
MedGen 41 C1839258
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Split-Hand/foot Malformation 2, also known as split hand-foot malformation 2, is related to split hand-foot malformation and chromosome 2q35 duplication syndrome. An important gene associated with Split-Hand/foot Malformation 2 is DLX6-AS1 (DLX6 Antisense RNA 1), and among its related pathways/superpathways is MECP2 and Associated Rett Syndrome. Affiliated tissues include eye and heart, and related phenotypes are split hand and finger syndactyly

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

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 split hand-foot malformation 29.3 WNT10B TP63 SHFM2 SEM1 FBXW4 DLX6
2 chromosome 2q35 duplication syndrome 27.7 WNT10B TP63 SEM1 FBXW4 DLX6 DLX5
3 split hand/foot malformation x-linked 11.4
4 split hand split foot malformation autosomal recessive 10.9
5 agnathia-otocephaly complex 9.9 DLX6 DLX5
6 split-hand/foot malformation 1 9.7 TP63 SEM1 DLX5
7 lacrimoauriculodentodigital syndrome 9.7 FBXW4 BHLHA9
8 orofacial cleft 9.6 TP63 DLX6 DLX5
9 orofacial cleft 8 9.6 TP63 DLX6 DLX5
10 rapp-hodgkin syndrome 9.6 TP63 DLX6 DLX5
11 chromosomal duplication syndrome 9.5 FBXW4 BHLHA9
12 tooth agenesis 9.5 WNT10B TP63 DLX5
13 cleft palate, isolated 9.4 TP63 DLX6 DLX5
14 orofacial cleft 4 9.4 WNT10B TP63 SEM1 DLX6
15 isolated split hand-split foot malformation 9.1 WNT10B TP63 SEM1 DLX6 DLX5
16 split-hand/foot malformation 3 9.1 SEM1 FBXW4 DLX6 DLX5 BHLHA9
17 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 8.9 WNT10B TP63 DLX6 DLX5 BHLHA9
18 split-hand/foot malformation 5 8.8 TP63 SEM1 FBXW4 DLX6 DLX5 BHLHA9
19 split-hand/foot malformation 4 8.5 WNT10B TP63 SEM1 FBXW4 DLX6 DLX5
20 split-hand/foot malformation 6 8.5 WNT10B TP63 SEM1 FBXW4 DLX6 DLX5
21 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 8.5 WNT10B TP63 SEM1 FBXW4 DLX6 DLX5

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:

31
# Description HPO Frequency HPO Source Accession
1 split hand 31 HP:0001171
2 finger syndactyly 31 HP:0006101
3 short metacarpal 31 HP:0010049
4 short phalanx of finger 31 HP:0009803
5 split foot 31 HP:0001839

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Limbs:
phalangeal hypoplasia
split-hand
split-foot
metacarpal hypoplasia
partial syndactyly
more
Misc:
heterozygous females show milder expression

Clinical features from OMIM®:

313350 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.02 BHLHA9 DLX5 DLX6 FBXW4 TP63

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:

40
Eye, Heart

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. 61 57
15617554 2005
2
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. 57
16688749 2006
3
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. 57
7912888 1994
4
X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred. 57
3817811 1987
5
Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types. 57
7389732 1980
6
Duplication of 10q24 locus: broadening the clinical and radiological spectrum. 61
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. 61
24459211 2014
8
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. 61
21554266 2012
9
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. 61
21485001 2011
10
The association of split hand foot malformation (SHFM) and congenital heart defects. 61
18383509 2008
11
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. 61
16691619 2006
12
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. 61
16761290 2006
13
[A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family]. 61
16681918 2006
14
Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). 61
15232212 2004
15
Association of ectrodactyly and distal phocomelia. 61
12416640 2002
16
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. 61
10330351 1999
17
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. 61
9004130 1996
18
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. 61
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 10.42 DLX6 DLX5

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 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.88 WNT10B TP63 DLX6 DLX5 BHLHA9
2 multicellular organism development GO:0007275 9.63 WNT10B TP63 FBXW4 DLX6 DLX5 BHLHA9
3 positive regulation of canonical Wnt signaling pathway GO:0090263 9.58 WNT10B SEM1 DLX5
4 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.55 SEM1 FBXW4
5 positive regulation of osteoblast differentiation GO:0045669 9.54 WNT10B TP63
6 roof of mouth development GO:0060021 9.52 DLX6 DLX5
7 positive regulation of epithelial cell proliferation GO:0050679 9.51 DLX6 DLX5
8 skeletal system development GO:0001501 9.5 TP63 DLX6 DLX5
9 inner ear morphogenesis GO:0042472 9.49 DLX6 DLX5
10 developmental process GO:0032502 9.46 TP63 BHLHA9
11 head development GO:0060322 9.43 DLX6 DLX5
12 epithelial cell differentiation GO:0030855 9.43 TP63 DLX6 DLX5
13 embryo development GO:0009790 9.37 DLX6 DLX5
14 anatomical structure formation involved in morphogenesis GO:0048646 9.13 TP63 DLX6 DLX5
15 embryonic limb morphogenesis GO:0030326 8.92 TP63 FBXW4 DLX6 DLX5

Sources for Split-Hand/foot Malformation 2

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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