MCID: ISL121
MIFTS: 29

Isolated Split Hand-Split Foot Malformation

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Split Hand-Split Foot Malformation

MalaCards integrated aliases for Isolated Split Hand-Split Foot Malformation:

Name: Isolated Split Hand-Split Foot Malformation 59
Ectrodactyly 59 73
Split Hand Foot Malformation 59
Split-Hand/foot Malformation 73
Split Hand Foot Deformity 1 73
Split Hand Foot Deformity 73
Lobster-Claw Deformity 59
Shfm 59

Characteristics:

Orphanet epidemiological data:

59
isolated 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 59 ORPHA2440
ICD10 via Orphanet 34 Q71.6 Q72.7
UMLS via Orphanet 74 C0265554

Summaries for Isolated Split Hand-Split Foot Malformation

MalaCards based summary : Isolated Split Hand-Split Foot Malformation, also known as ectrodactyly, is related to split-hand/foot malformation 1 and split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive. An important gene associated with Isolated Split Hand-Split Foot Malformation is TP63 (Tumor Protein P63), and among its related pathways/superpathways are Signaling by Wnt and MECP2 and Associated Rett Syndrome. Affiliated tissues include bone, and related phenotypes are sensorineural hearing impairment and aniridia

Related Diseases for Isolated Split Hand-Split Foot Malformation

Graphical network of the top 20 diseases related to Isolated Split Hand-Split Foot Malformation:



Diseases related to Isolated Split Hand-Split Foot Malformation

Symptoms & Phenotypes for Isolated Split Hand-Split Foot Malformation

Human phenotypes related to Isolated Split Hand-Split Foot Malformation:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
2 aniridia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000526
3 split hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0001171
4 absent hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0004050
5 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
6 oligodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0012165

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 BTRC DLX5 DLX6 TP63

Drugs & Therapeutics for Isolated Split Hand-Split Foot Malformation

Search Clinical Trials , NIH Clinical Center for Isolated Split Hand-Split Foot Malformation

Genetic Tests for Isolated Split Hand-Split Foot Malformation

Anatomical Context for Isolated Split Hand-Split Foot Malformation

MalaCards organs/tissues related to Isolated Split Hand-Split Foot Malformation:

41
Bone

Publications for Isolated Split Hand-Split Foot Malformation

Articles related to Isolated Split Hand-Split Foot Malformation:

# Title Authors Year
1
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. ( 11462173 )
2001

Variations for Isolated Split Hand-Split Foot Malformation

ClinVar genetic disease variations for Isolated Split Hand-Split Foot Malformation:

6
(show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 TP63 NM_003722.4(TP63): c.859C> T (p.Leu287=) single nucleotide variant Benign/Likely benign rs33979049 GRCh37 Chromosome 3, 189584563: 189584563
2 TP63 NM_003722.4(TP63): c.859C> T (p.Leu287=) single nucleotide variant Benign/Likely benign rs33979049 GRCh38 Chromosome 3, 189866774: 189866774
3 TP63 NM_003722.4(TP63): c.1587C> T (p.Leu529=) single nucleotide variant Likely benign rs141847552 GRCh38 Chromosome 3, 189889419: 189889419
4 TP63 NM_003722.4(TP63): c.1587C> T (p.Leu529=) single nucleotide variant Likely benign rs141847552 GRCh37 Chromosome 3, 189607208: 189607208
5 TP63 NM_003722.4(TP63): c.*45C> T single nucleotide variant Benign rs34057105 GRCh38 Chromosome 3, 189894547: 189894547
6 TP63 NM_003722.4(TP63): c.*45C> T single nucleotide variant Benign rs34057105 GRCh37 Chromosome 3, 189612336: 189612336
7 TP63 NM_003722.4(TP63): c.1531C> A (p.Pro511Thr) single nucleotide variant Likely benign rs148076109 GRCh37 Chromosome 3, 189607152: 189607152
8 TP63 NM_003722.4(TP63): c.1531C> A (p.Pro511Thr) single nucleotide variant Likely benign rs148076109 GRCh38 Chromosome 3, 189889363: 189889363
9 TP63 NM_003722.4(TP63): c.303G> A (p.Ser101=) single nucleotide variant Likely benign rs186864205 GRCh37 Chromosome 3, 189456542: 189456542
10 TP63 NM_003722.4(TP63): c.303G> A (p.Ser101=) single nucleotide variant Likely benign rs186864205 GRCh38 Chromosome 3, 189738753: 189738753
11 TP63 NM_003722.4(TP63): c.699A> G (p.Lys233=) single nucleotide variant Likely benign rs199727371 GRCh37 Chromosome 3, 189582140: 189582140
12 TP63 NM_003722.4(TP63): c.699A> G (p.Lys233=) single nucleotide variant Likely benign rs199727371 GRCh38 Chromosome 3, 189864351: 189864351
13 TP63 NM_003722.4(TP63): c.766+3A> G single nucleotide variant Uncertain significance rs886058221 GRCh37 Chromosome 3, 189582210: 189582210
14 TP63 NM_003722.4(TP63): c.766+3A> G single nucleotide variant Uncertain significance rs886058221 GRCh38 Chromosome 3, 189864421: 189864421
15 TP63 NM_003722.4(TP63): c.1652+14A> C single nucleotide variant Likely benign rs150685395 GRCh38 Chromosome 3, 189889498: 189889498
16 TP63 NM_003722.4(TP63): c.1652+14A> C single nucleotide variant Likely benign rs150685395 GRCh37 Chromosome 3, 189607287: 189607287
17 TP63 NM_003722.4(TP63): c.*235_*238delGTAG deletion Uncertain significance rs886058225 GRCh38 Chromosome 3, 189894737: 189894740
18 TP63 NM_003722.4(TP63): c.*235_*238delGTAG deletion Uncertain significance rs886058225 GRCh37 Chromosome 3, 189612526: 189612529
19 TP63 NM_003722.4(TP63): c.*627T> C single nucleotide variant Likely benign rs184452906 GRCh38 Chromosome 3, 189895129: 189895129
20 TP63 NM_003722.4(TP63): c.*627T> C single nucleotide variant Likely benign rs184452906 GRCh37 Chromosome 3, 189612918: 189612918
21 TP63 NM_003722.4(TP63): c.*2123C> T single nucleotide variant Likely benign rs36064124 GRCh38 Chromosome 3, 189896625: 189896625
22 TP63 NM_003722.4(TP63): c.*2123C> T single nucleotide variant Likely benign rs36064124 GRCh37 Chromosome 3, 189614414: 189614414
23 TP63 NM_003722.4(TP63): c.*2197C> A single nucleotide variant Uncertain significance rs886058237 GRCh37 Chromosome 3, 189614488: 189614488
24 TP63 NM_003722.4(TP63): c.*2197C> A single nucleotide variant Uncertain significance rs886058237 GRCh38 Chromosome 3, 189896699: 189896699
25 TP63 NM_003722.4(TP63): c.*2625A> T single nucleotide variant Likely benign rs35694511 GRCh38 Chromosome 3, 189897127: 189897127
26 TP63 NM_003722.4(TP63): c.*2625A> T single nucleotide variant Likely benign rs35694511 GRCh37 Chromosome 3, 189614916: 189614916
27 TP63 NM_003722.4(TP63): c.*2719_*2720delTT deletion Likely benign rs886058242 GRCh38 Chromosome 3, 189897221: 189897222
28 TP63 NM_003722.4(TP63): c.*2719_*2720delTT deletion Likely benign rs886058242 GRCh37 Chromosome 3, 189615010: 189615011
29 TP63 NM_003722.4(TP63): c.409G> C (p.Asp137His) single nucleotide variant Uncertain significance rs762935508 GRCh37 Chromosome 3, 189526145: 189526145
30 TP63 NM_003722.4(TP63): c.409G> C (p.Asp137His) single nucleotide variant Uncertain significance rs762935508 GRCh38 Chromosome 3, 189808356: 189808356
31 TP63 NM_003722.4(TP63): c.766+5G> A single nucleotide variant Uncertain significance rs374425727 GRCh37 Chromosome 3, 189582212: 189582212
32 TP63 NM_003722.4(TP63): c.766+5G> A single nucleotide variant Uncertain significance rs374425727 GRCh38 Chromosome 3, 189864423: 189864423
33 TP63 NM_003722.4(TP63): c.1374A> G (p.Ser458=) single nucleotide variant Uncertain significance rs141794685 GRCh38 Chromosome 3, 189886418: 189886418
34 TP63 NM_003722.4(TP63): c.1374A> G (p.Ser458=) single nucleotide variant Uncertain significance rs141794685 GRCh37 Chromosome 3, 189604207: 189604207
35 TP63 NM_003722.4(TP63): c.*232T> C single nucleotide variant Likely benign rs569527175 GRCh38 Chromosome 3, 189894734: 189894734
36 TP63 NM_003722.4(TP63): c.*232T> C single nucleotide variant Likely benign rs569527175 GRCh37 Chromosome 3, 189612523: 189612523
37 TP63 NM_003722.4(TP63): c.*379T> A single nucleotide variant Likely benign rs192879052 GRCh38 Chromosome 3, 189894881: 189894881
38 TP63 NM_003722.4(TP63): c.*379T> A single nucleotide variant Likely benign rs192879052 GRCh37 Chromosome 3, 189612670: 189612670
39 TP63 NM_003722.4(TP63): c.*519C> T single nucleotide variant Uncertain significance rs886058228 GRCh38 Chromosome 3, 189895021: 189895021
40 TP63 NM_003722.4(TP63): c.*519C> T single nucleotide variant Uncertain significance rs886058228 GRCh37 Chromosome 3, 189612810: 189612810
41 TP63 NM_003722.4(TP63): c.*638C> G single nucleotide variant Benign rs6444406 GRCh38 Chromosome 3, 189895140: 189895140
42 TP63 NM_003722.4(TP63): c.*638C> G single nucleotide variant Benign rs6444406 GRCh37 Chromosome 3, 189612929: 189612929
43 TP63 NM_003722.4(TP63): c.*854A> G single nucleotide variant Likely benign rs187751631 GRCh37 Chromosome 3, 189613145: 189613145
44 TP63 NM_003722.4(TP63): c.*854A> G single nucleotide variant Likely benign rs187751631 GRCh38 Chromosome 3, 189895356: 189895356
45 TP63 NM_003722.4(TP63): c.*1130_*1133delTGAA deletion Uncertain significance rs886058229 GRCh38 Chromosome 3, 189895632: 189895635
46 TP63 NM_003722.4(TP63): c.*1130_*1133delTGAA deletion Uncertain significance rs886058229 GRCh37 Chromosome 3, 189613421: 189613424
47 TP63 NM_003722.4(TP63): c.*1181T> C single nucleotide variant Uncertain significance rs565556454 GRCh38 Chromosome 3, 189895683: 189895683
48 TP63 NM_003722.4(TP63): c.*1181T> C single nucleotide variant Uncertain significance rs565556454 GRCh37 Chromosome 3, 189613472: 189613472
49 TP63 NM_003722.4(TP63): c.*1217T> C single nucleotide variant Uncertain significance rs886058231 GRCh38 Chromosome 3, 189895719: 189895719
50 TP63 NM_003722.4(TP63): c.*1217T> C single nucleotide variant Uncertain significance rs886058231 GRCh37 Chromosome 3, 189613508: 189613508

Expression for Isolated Split Hand-Split Foot Malformation

Search GEO for disease gene expression data for Isolated Split Hand-Split Foot Malformation.

Pathways for Isolated Split Hand-Split Foot Malformation

Pathways related to Isolated Split Hand-Split Foot Malformation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 BTRC SEM1 WNT10B
2 10.42 DLX5 DLX6

GO Terms for Isolated Split Hand-Split Foot Malformation

Biological processes related to Isolated Split Hand-Split Foot Malformation according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.81 DLX5 DLX6 TP63 WNT10B
2 interleukin-1-mediated signaling pathway GO:0070498 9.56 BTRC SEM1
3 roof of mouth development GO:0060021 9.55 DLX5 DLX6
4 obsolete positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition GO:0051437 9.54 BTRC SEM1
5 cellular response to organic cyclic compound GO:0071407 9.52 BTRC WNT10B
6 skeletal system development GO:0001501 9.5 DLX5 DLX6 TP63
7 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.49 BTRC SEM1
8 NIK/NF-kappaB signaling GO:0038061 9.48 BTRC SEM1
9 inner ear morphogenesis GO:0042472 9.46 DLX5 DLX6
10 positive regulation of epithelial cell proliferation GO:0050679 9.43 DLX5 DLX6
11 positive regulation of canonical Wnt signaling pathway GO:0090263 9.43 DLX5 SEM1 WNT10B
12 positive regulation of osteoblast differentiation GO:0045669 9.4 TP63 WNT10B
13 head development GO:0060322 9.37 DLX5 DLX6
14 epithelial cell differentiation GO:0030855 9.33 DLX5 DLX6 TP63
15 embryonic limb morphogenesis GO:0030326 9.13 DLX5 DLX6 TP63
16 anatomical structure formation involved in morphogenesis GO:0048646 8.8 DLX5 DLX6 TP63

Sources for Isolated Split Hand-Split Foot Malformation

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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