MCID: TBL030
MIFTS: 23

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 59
Split-Hand/foot Malformation Associated with Aplasia of Long Bones 59
Split Hand/foot Malformation with Long Bone Deficiency 59
Aplasia of Tibia with Split-Hand/split-Foot Deformity 59
Tibial Hemimelia with Split Hand/foot Malformation 59
Shfm Associated with Aplasia of Long Bones 59
Tibial Hemimelia-Ectrodactyly Syndrome 59
Shfld Syndrome 59
Th-Shfm 59

Characteristics:

Orphanet epidemiological data:

59
tibial aplasia-ectrodactyly syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA3329
ICD10 via Orphanet 34 Q73.8
UMLS via Orphanet 74 C1861553

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). Affiliated tissues include bone, and related phenotypes are finger syndactyly 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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
2 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
3 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
4 overfolded helix 59 32 occasional (7.5%) Occasional (29-5%) HP:0000396
5 split hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001171
6 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
7 postaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001162
8 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
9 aplasia/hypoplasia of the ulna 59 32 occasional (7.5%) Occasional (29-5%) HP:0006495
10 femoral bowing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002980
11 fibular hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003038
12 patellar aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0006443
13 aplasia/hypoplasia of the tibia 59 32 frequent (33%) Frequent (79-30%) HP:0005772
14 popliteal pterygium 59 32 occasional (7.5%) Occasional (29-5%) HP:0009756
15 short femur 59 32 occasional (7.5%) Occasional (29-5%) HP:0003097
16 abnormality of femur morphology 59 Occasional (29-5%)
17 ectrodactyly 59 Frequent (79-30%)
18 abnormality of the fibula 59 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:

41
Bone

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 )
2013
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 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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