BDSD
MCID: BRC004
MIFTS: 33

Brachydactyly-Syndactyly Syndrome (BDSD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Brachydactyly-Syndactyly Syndrome

MalaCards integrated aliases for Brachydactyly-Syndactyly Syndrome:

Name: Brachydactyly-Syndactyly Syndrome 56 12 73 36 29 13 6 43 15 39 71
Brachydactyly-Syndactyly-Oligodactyly Syndrome 73 6
Bdsd 56 73
Brachydactyly-Syndactyly, Zhao Type 58
Bdsdo 73

Characteristics:

Orphanet epidemiological data:

58
brachydactyly-syndactyly, zhao type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050689
OMIM 56 610713
KEGG 36 H00870
ICD10 via Orphanet 33 Q73.8
Orphanet 58 ORPHA93409
MedGen 41 C1853137
UMLS 71 C1853137

Summaries for Brachydactyly-Syndactyly Syndrome

UniProtKB/Swiss-Prot : 73 Brachydactyly-syndactyly syndrome: A disease characterized by generalized shortening of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1.
Brachydactyly-syndactyly-oligodactyly syndrome: A syndrome characterized by a complex brachydactyly-syndactyly- oligodactyly phenotype. Limb anomalies include reduced number of digits that are severely shortened, camptodactyly, syndactyly, absence of terminal phalanges of the thumbs, and absence of nails of the thumbs and toes.

MalaCards based summary : Brachydactyly-Syndactyly Syndrome, also known as brachydactyly-syndactyly-oligodactyly syndrome, is related to brachydactyly, type a4 and brachydactyly, type d. An important gene associated with Brachydactyly-Syndactyly Syndrome is HOXD13 (Homeobox D13). Affiliated tissues include bone, and related phenotypes are short 5th metacarpal and toe syndactyly

Disease Ontology : 12 A syndrome that is characterized by brachydactyly and syndactyly, has material basis in heterozygous mutation in the HOXD13 gene on chromosome 2q31.

KEGG : 36 This condition is a rare disease with complex brachydactyly and syndactyly. It is linked to HOXD13, a gene that is essential for limb development. Defects in HOXD13 are the cause of brachydactyly [DS:H00482] and synpolydactyly [DS:H00459].

More information from OMIM: 610713

Related Diseases for Brachydactyly-Syndactyly Syndrome

Graphical network of the top 20 diseases related to Brachydactyly-Syndactyly Syndrome:



Diseases related to Brachydactyly-Syndactyly Syndrome

Symptoms & Phenotypes for Brachydactyly-Syndactyly Syndrome

Human phenotypes related to Brachydactyly-Syndactyly Syndrome:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short 5th metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010047
2 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
3 short middle phalanx of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004220
4 short fifth metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0004704
5 short middle phalanx of the 2nd finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009577
6 hallux valgus 58 31 frequent (33%) Frequent (79-30%) HP:0001822
7 symphalangism affecting the phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009773
8 finger syndactyly 31 HP:0006101
9 brachydactyly 31 HP:0001156
10 oligodactyly 31 HP:0012165
11 camptodactyly 31 HP:0012385
12 short phalanx of finger 31 HP:0009803

Clinical features from OMIM:

610713

MGI Mouse Phenotypes related to Brachydactyly-Syndactyly Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.02 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9

Drugs & Therapeutics for Brachydactyly-Syndactyly Syndrome

Search Clinical Trials , NIH Clinical Center for Brachydactyly-Syndactyly Syndrome

Cochrane evidence based reviews: brachydactyly-syndactyly syndrome

Genetic Tests for Brachydactyly-Syndactyly Syndrome

Genetic tests related to Brachydactyly-Syndactyly Syndrome:

# Genetic test Affiliating Genes
1 Brachydactyly-Syndactyly Syndrome 29 HOXD13

Anatomical Context for Brachydactyly-Syndactyly Syndrome

MalaCards organs/tissues related to Brachydactyly-Syndactyly Syndrome:

40
Bone

Publications for Brachydactyly-Syndactyly Syndrome

Articles related to Brachydactyly-Syndactyly Syndrome:

# Title Authors PMID Year
1
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 61 56 6
17236141 2007
2
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations. 56 6
23995701 2013
3
Method of bilateral pleural drainage by single Blake drain after esophagectomy. 61
25488715 2015
4
Using the mood disorder questionnaire and bipolar spectrum diagnostic scale to detect bipolar disorder and borderline personality disorder among eating disorder patients. 61
23443034 2013
5
Characterization of zinc-solubilizing Bacillus isolates and their potential to influence zinc assimilation in soybean seeds. 61
22450791 2012
6
Grouping and trajectories of the neuropsychiatric symptoms in patients with Alzheimer's disease, part I: symptom clusters. 61
20930289 2010
7
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome. 61
17440500 2007

Variations for Brachydactyly-Syndactyly Syndrome

ClinVar genetic disease variations for Brachydactyly-Syndactyly Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HOXD13 NM_000523.4(HOXD13):c.973C>A (p.Gln325Lys)SNV Pathogenic 225655 rs875989842 2:176959399-176959399 2:176094671-176094671
2 HOXD13 NM_000523.4(HOXD13):c.183_203del (p.Ala65_Ala71del)deletion Pathogenic 14875 rs878854346 2:176957790-176957810 2:176093062-176093082

UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly-Syndactyly Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 HOXD13 p.Gln325Lys VAR_076835 rs875989842

Expression for Brachydactyly-Syndactyly Syndrome

Search GEO for disease gene expression data for Brachydactyly-Syndactyly Syndrome.

Pathways for Brachydactyly-Syndactyly Syndrome

GO Terms for Brachydactyly-Syndactyly Syndrome

Cellular components related to Brachydactyly-Syndactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.02 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10

Biological processes related to Brachydactyly-Syndactyly Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.83 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
2 single fertilization GO:0007338 9.55 HOXD9 HOXD10
3 pattern specification process GO:0007389 9.54 HOXD13 HOXD12
4 skeletal system development GO:0001501 9.54 HOXD13 HOXD12 HOXD10
5 embryonic digit morphogenesis GO:0042733 9.52 HOXD13 HOXD12
6 embryonic limb morphogenesis GO:0030326 9.51 HOXD13 HOXD10
7 anterior/posterior pattern specification GO:0009952 9.5 HOXD9 HOXD13 HOXD10
8 skeletal muscle tissue development GO:0007519 9.49 HOXD9 HOXD10
9 embryonic skeletal system morphogenesis GO:0048704 9.48 HOXD9 HOXD10
10 adult locomotory behavior GO:0008344 9.46 HOXD9 HOXD10
11 proximal/distal pattern formation GO:0009954 9.4 HOXD9 HOXD10
12 peripheral nervous system neuron development GO:0048935 9.26 HOXD9 HOXD10
13 hindlimb morphogenesis GO:0035137 9.16 HOXD9 HOXD10
14 multicellular organism development GO:0007275 9.1 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10 EPHA7
15 forelimb morphogenesis GO:0035136 8.96 HOXD9 HOXD10

Molecular functions related to Brachydactyly-Syndactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.55 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
3 sequence-specific DNA binding GO:0043565 9.02 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10

Sources for Brachydactyly-Syndactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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