MCID: TBL030
MIFTS: 21

Tibial Aplasia-Ectrodactyly Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Tibial Aplasia-Ectrodactyly Syndrome

MalaCards integrated aliases for Tibial Aplasia-Ectrodactyly Syndrome:

Name: Tibial Aplasia-Ectrodactyly Syndrome 58
Split-Hand/foot Malformation Associated with Aplasia of Long Bones 58
Split Hand/foot Malformation with Long Bone Deficiency 58
Aplasia of Tibia with Split-Hand/split-Foot Deformity 58
Tibial Hemimelia with Split Hand/foot Malformation 58
Shfm Associated with Aplasia of Long Bones 58
Tibial Hemimelia-Ectrodactyly Syndrome 58
Shfld Syndrome 58
Th-Shfm 58

Characteristics:

Orphanet epidemiological data:

58
tibial aplasia-ectrodactyly syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 71 C1861553
Orphanet 58 ORPHA3329

Summaries for Tibial Aplasia-Ectrodactyly Syndrome

MalaCards based summary : Tibial Aplasia-Ectrodactyly Syndrome, also known as split-hand/foot malformation associated with aplasia of long bones, is related to split-hand/foot malformation with long bone deficiency 2 and split-hand/foot malformation with long bone deficiency 1. An important gene associated with Tibial Aplasia-Ectrodactyly Syndrome is BHLHA9 (Basic Helix-Loop-Helix Family Member A9). Affiliated tissues include bone, and related phenotypes are split hand and limitation of joint mobility

Related Diseases for Tibial Aplasia-Ectrodactyly Syndrome

Diseases related to Tibial Aplasia-Ectrodactyly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation with long bone deficiency 2 11.9
2 split-hand/foot malformation with long bone deficiency 1 11.3
3 split-hand/foot malformation 1 10.4
4 polydactyly 10.4
5 hemimelia 10.4
6 isolated split hand-split foot malformation 10.4
7 chromosome 2q35 duplication syndrome 10.3
8 clubfoot 10.3
9 tibial hemimelia 10.1
10 split hand-foot malformation 10.1
11 thrombocytopenia-absent radius syndrome 10.0
12 chromosome 17p13.3, telomeric, duplication syndrome 10.0
13 thrombocytopenia 10.0

Graphical network of the top 20 diseases related to Tibial Aplasia-Ectrodactyly Syndrome:



Diseases related to Tibial Aplasia-Ectrodactyly Syndrome

Symptoms & Phenotypes for Tibial Aplasia-Ectrodactyly Syndrome

Human phenotypes related to Tibial Aplasia-Ectrodactyly Syndrome:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 split hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001171
2 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
3 aplasia/hypoplasia of the tibia 58 31 frequent (33%) Frequent (79-30%) HP:0005772
4 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
5 overfolded helix 58 31 occasional (7.5%) Occasional (29-5%) HP:0000396
6 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
7 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
8 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
9 postaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001162
10 aplasia/hypoplasia of the ulna 58 31 occasional (7.5%) Occasional (29-5%) HP:0006495
11 femoral bowing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002980
12 patellar aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006443
13 fibular hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003038
14 popliteal pterygium 58 31 occasional (7.5%) Occasional (29-5%) HP:0009756
15 short femur 58 31 occasional (7.5%) Occasional (29-5%) HP:0003097
16 abnormality of femur morphology 58 Occasional (29-5%)
17 ectrodactyly 58 Frequent (79-30%)
18 abnormality of fibula morphology 58 Occasional (29-5%)

Drugs & Therapeutics for Tibial Aplasia-Ectrodactyly Syndrome

Search Clinical Trials , NIH Clinical Center for Tibial Aplasia-Ectrodactyly Syndrome

Genetic Tests for Tibial Aplasia-Ectrodactyly Syndrome

Anatomical Context for Tibial Aplasia-Ectrodactyly Syndrome

MalaCards organs/tissues related to Tibial Aplasia-Ectrodactyly Syndrome:

40
Bone

Publications for Tibial Aplasia-Ectrodactyly Syndrome

Articles related to Tibial Aplasia-Ectrodactyly Syndrome:

# Title Authors PMID Year
1
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. 61
18493797 2008
2
Fibular aplasia with ectrodactyly. 61
12400066 2002
3
Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities. 61
10340652 1999

Variations for Tibial Aplasia-Ectrodactyly Syndrome

ClinVar genetic disease variations for Tibial Aplasia-Ectrodactyly Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 117 genes GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Pathogenic 625578 GRCh37: 17:47546-6287620
GRCh38:
2 overlap with 4 genes GRCh37/hg19 17p13.3(chr17:1084016-1278527) copy number gain Pathogenic 625580 GRCh37: 17:1084016-1278527
GRCh38:

Expression for Tibial Aplasia-Ectrodactyly Syndrome

Search GEO for disease gene expression data for Tibial Aplasia-Ectrodactyly Syndrome.

Pathways for Tibial Aplasia-Ectrodactyly Syndrome

GO Terms for Tibial Aplasia-Ectrodactyly Syndrome

Sources for Tibial Aplasia-Ectrodactyly Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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