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 58 74
Split Hand-Foot Malformation 2 12 15
Shfm2 58 12
Split-Hand/split-Foot Anomaly, X-Linked 58
Split Hand/foot Malformation, Type 2 13
Split-Hand/foot Deformity 2; Shfd2 58
Split Hand/foot Malformation 2 58
Split-Hand/foot Deformity 2 58
Shfd2 58
Shsf2 58

Characteristics:

OMIM:

58
Inheritance:
x-linked (xq26)


HPO:

33
split-hand/foot malformation 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090027
OMIM 58 313350
ICD9CM 36 755.58
MeSH 45 C574275
SNOMED-CT 69 13624003 81208006
ICD10 34 Q71.6 Q71.60
MedGen 43 C1839258

Summaries for Split-Hand/foot Malformation 2

OMIM : 58 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, 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:

33
# Description HPO Frequency HPO Source Accession
1 finger syndactyly 33 HP:0006101
2 split hand 33 HP:0001171
3 short metacarpal 33 HP:0010049
4 short phalanx of finger 33 HP:0009803
5 split foot 33 HP:0001839

Symptoms via clinical synopsis from OMIM:

58
Limbs:
phalangeal hypoplasia
split-hand
split-foot
partial syndactyly
monodactylous lobster-claw anomaly
more
Misc:
heterozygous females show milder expression

Clinical features from OMIM:

313350

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

47
# 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:

42
Bone

Publications for Split-Hand/foot Malformation 2

Articles related to Split-Hand/foot Malformation 2:

# Title Authors 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. ( 15617554 )
2005

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 BTRC SUFU WNT10B

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

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 DLX1 DLX2 DLX5 DLX6 PAX2 POLL
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 DLX1 DLX2 DLX5 DLX6 PAX2 TLX1
3 transcription regulatory region DNA binding GO:0044212 9.26 DLX5 PAX2 SNCA TP63
4 sequence-specific DNA binding GO:0043565 9.1 DLX1 DLX2 DLX5 DLX6 TLX1 TP63

Sources for Split-Hand/foot Malformation 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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