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 60
Split-Hand/foot Malformation Associated with Aplasia of Long Bones 60
Split Hand/foot Malformation with Long Bone Deficiency 60
Aplasia of Tibia with Split-Hand/split-Foot Deformity 60
Tibial Hemimelia with Split Hand/foot Malformation 60
Shfm Associated with Aplasia of Long Bones 60
Tibial Hemimelia-Ectrodactyly Syndrome 60
Shfld Syndrome 60
Th-Shfm 60

Characteristics:

Orphanet epidemiological data:

60
tibial aplasia-ectrodactyly syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q73.8
UMLS via Orphanet 75 C1861553
Orphanet 60 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 1 and split-hand/foot malformation with long bone deficiency 2. An important gene associated with Tibial Aplasia-Ectrodactyly Syndrome is BHLHA9 (Basic Helix-Loop-Helix Family Member A9). 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:

# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation with long bone deficiency 1 13.0
2 split-hand/foot malformation with long bone deficiency 2 12.8
3 chromosome 17p13.3, telomeric, duplication syndrome 12.5
4 tibial hemimelia 10.2
5 thrombocytopenia 10.0
6 split hand-foot malformation 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:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 split hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0001171
2 limitation of joint mobility 60 33 frequent (33%) Frequent (79-30%) HP:0001376
3 aplasia/hypoplasia of the tibia 60 33 frequent (33%) Frequent (79-30%) HP:0005772
4 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
5 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
6 overfolded helix 60 33 occasional (7.5%) Occasional (29-5%) HP:0000396
7 preaxial hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001177
8 postaxial hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001162
9 omphalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0001539
10 aplasia/hypoplasia of the ulna 60 33 occasional (7.5%) Occasional (29-5%) HP:0006495
11 femoral bowing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002980
12 fibular hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003038
13 patellar aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0006443
14 popliteal pterygium 60 33 occasional (7.5%) Occasional (29-5%) HP:0009756
15 short femur 60 33 occasional (7.5%) Occasional (29-5%) HP:0003097
16 abnormality of femur morphology 60 Occasional (29-5%)
17 ectrodactyly 60 Frequent (79-30%)
18 abnormality of the fibula 60 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

Publications for Tibial Aplasia-Ectrodactyly Syndrome

Articles related to Tibial Aplasia-Ectrodactyly Syndrome:

# Title Authors Year
1
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype. ( 29970136 )
2018
2
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case. ( 28496997 )
2017
3
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. ( 23790188 )
2014
4
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. ( 23202277 )
2013
5
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. ( 17160898 )
2007
6
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. ( 17569090 )
2007

Variations for Tibial Aplasia-Ectrodactyly Syndrome

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
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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