MCID: SPL070
MIFTS: 36

Split-Hand/foot Malformation 2

Categories: Bone diseases, Rare diseases, Ear diseases, Genetic diseases, Fetal 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 73
Split Hand/foot Malformation 2 57 13
Split Hand-Foot Malformation 2 12 15
Shfm2 57 12
Split-Hand/split-Foot Anomaly, X-Linked 57
Split-Hand/foot Deformity 2; Shfd2 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:

OMIM 57 313350
Disease Ontology 12 DOID:0090027
ICD10 33 Q71.6
MedGen 42 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 and split hand/foot malformation x-linked. An important gene associated with Split-Hand/foot Malformation 2 is DLX6-AS1 (DLX6 Antisense RNA 1
The lncRNA EVF2,which recruits the transcription factor Dlx2 to activate the protein coding genes DLX5 and DLX6 that are associated with the Split Hand/ Split Foot malformation disorder.
Dysfunction Pattern: Interaction), and among its related pathways/superpathways is Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. Affiliated tissues include bone, and related phenotypes are split hand and split foot

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

Symptoms via clinical synopsis from OMIM:

57
Limbs:
split-hand
split-foot
monodactylous lobster-claw anomaly
partial syndactyly
metacarpal hypoplasia
more
Misc:
heterozygous females show milder expression


Clinical features from OMIM:

313350

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

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

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 TP63 DLX5 DLX6 FBXW4 FGF8 PAX2
5 mortality/aging MP:0010768 9.9 FBXW4 FGF8 PAX2 SNCA SUFU TP63
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 DLX2 DLX5 DLX6 FBXW4 FGF8 SNCA

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

Publications for Split-Hand/foot Malformation 2

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
10.98 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 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of canonical Wnt signaling pathway GO:0090263 9.8 DLX5 SEM1 WNT10B
2 negative regulation of neuron apoptotic process GO:0043524 9.8 DLX1 FGF8 SNCA
3 skeletal system development GO:0001501 9.78 DLX5 DLX6 SUFU TP63
4 epithelial cell differentiation GO:0030855 9.76 DLX5 DLX6 TP63
5 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.75 BTRC FBXW4 SEM1
6 positive regulation of epithelial cell proliferation GO:0050679 9.74 DLX5 DLX6 PAX2
7 odontogenesis of dentin-containing tooth GO:0042475 9.72 DLX1 DLX2 TP63
8 positive regulation of cell differentiation GO:0045597 9.69 DLX1 DLX2 FGF8
9 embryonic hindlimb morphogenesis GO:0035116 9.64 FGF8 TP63
10 positive regulation of mesenchymal cell proliferation GO:0002053 9.64 FBXW4 TP63
11 negative regulation of smoothened signaling pathway GO:0045879 9.63 BTRC SUFU
12 head development GO:0060322 9.62 DLX5 DLX6
13 mesonephros development GO:0001823 9.61 FGF8 PAX2
14 negative regulation of oligodendrocyte differentiation GO:0048715 9.6 DLX1 DLX2
15 forebrain neuron differentiation GO:0021879 9.59 DLX1 DLX2
16 inner ear morphogenesis GO:0042472 9.56 DLX5 DLX6 FGF8 PAX2
17 negative regulation of photoreceptor cell differentiation GO:0046533 9.54 DLX1 DLX2
18 anatomical structure formation involved in morphogenesis GO:0048646 9.54 DLX5 DLX6 TP63
19 proximal/distal pattern formation GO:0009954 9.5 DLX1 DLX2 TP63
20 cerebral cortex GABAergic interneuron differentiation GO:0021892 9.49 DLX1 DLX2
21 regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment GO:0021882 9.46 DLX1 DLX2
22 embryonic limb morphogenesis GO:0030326 9.46 DLX5 DLX6 FBXW4 TP63
23 positive regulation of amacrine cell differentiation GO:1902871 9.43 DLX1 DLX2
24 cerebral cortex GABAergic interneuron fate commitment GO:0021893 9.4 DLX1 DLX2
25 multicellular organism development GO:0007275 9.36 DLX1 DLX2 DLX5 DLX6 FBXW4 FGF8
26 subpallium development GO:0021544 9.13 DLX1 DLX2 FGF8
27 positive regulation of transcription by RNA polymerase II GO:0045944 10.07 DLX1 DLX2 DLX5 PAX2 TLX1 TP63
28 negative regulation of transcription by RNA polymerase II GO:0000122 10.03 DLX1 DLX2 SNCA SUFU TP63 WNT10B
29 transcription by RNA polymerase II GO:0006366 10.01 DLX2 DLX5 PAX2 TLX1 TP63

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 RNA polymerase II transcription factor activity, sequence-specific DNA binding 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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