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 58 12 76 38 30 13 6 45 15 41 74
Brachydactyly-Syndactyly-Oligodactyly Syndrome 76 6
Bdsd 58 76
Brachydactyly-Syndactyly, Zhao Type 60
Bdsdo 76

Characteristics:

Orphanet epidemiological data:

60
brachydactyly-syndactyly, zhao type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050689
OMIM 58 610713
KEGG 38 H00870
ICD10 via Orphanet 35 Q73.8
Orphanet 60 ORPHA93409
MedGen 43 C1853137
UMLS 74 C1853137

Summaries for Brachydactyly-Syndactyly Syndrome

UniProtKB/Swiss-Prot : 76 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 and syndactyly, type v. 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 An autosomal genetic disease that is characterized by brachydactyly and syndactyly, has material basis in heterozygous mutation in the HOXD13 gene on chromosome 2q31.

Description from OMIM: 610713

Related Diseases for Brachydactyly-Syndactyly Syndrome

Diseases related to Brachydactyly-Syndactyly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 30.6 HOXD13 MBOAT1
2 syndactyly, type v 28.1 EPHA7 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
3 chromosome 2q35 duplication syndrome 10.3
4 brachydactyly, type a4 9.9 EPHA7 HOXD13
5 clubfoot 9.8 HOXD10 HOXD13
6 synpolydactyly 9.6 HOXD10 HOXD11 HOXD13

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:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short 5th metacarpal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010047
2 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001770
3 short middle phalanx of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004220
4 short fifth metatarsal 60 33 hallmark (90%) Very frequent (99-80%) HP:0004704
5 short middle phalanx of the 2nd finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009577
6 hallux valgus 60 33 frequent (33%) Frequent (79-30%) HP:0001822
7 symphalangism affecting the phalanges of the hand 60 33 frequent (33%) Frequent (79-30%) HP:0009773
8 finger syndactyly 33 HP:0006101
9 brachydactyly 33 HP:0001156
10 oligodactyly 33 HP:0012165
11 short phalanx of finger 33 HP:0009803
12 camptodactyly 33 HP:0012385

Clinical features from OMIM:

610713

MGI Mouse Phenotypes related to Brachydactyly-Syndactyly Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.72 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
2 muscle MP:0005369 9.56 HOXD10 HOXD12 HOXD13 HOXD9
3 renal/urinary system MP:0005367 9.46 HOXD10 HOXD11 HOXD13 HOXD9
4 reproductive system MP:0005389 9.35 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
5 skeleton MP:0005390 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 30 HOXD13

Anatomical Context for Brachydactyly-Syndactyly Syndrome

MalaCards organs/tissues related to Brachydactyly-Syndactyly Syndrome:

42
Bone

Publications for Brachydactyly-Syndactyly Syndrome

Articles related to Brachydactyly-Syndactyly Syndrome:

# Title Authors Year
1
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations. ( 23995701 )
2013
2
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. ( 17236141 )
2007
3
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. ( 17440500 )
2007

Variations for Brachydactyly-Syndactyly Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 HOXD13 p.Gln325Lys VAR_076835 rs875989842

ClinVar genetic disease variations for Brachydactyly-Syndactyly Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXD13 NM_000523.3(HOXD13): c.183_203del21 (p.Ala65_Ala71del) deletion Pathogenic rs878854346 GRCh38 Chromosome 2, 176093073: 176093093
2 HOXD13 NM_000523.3(HOXD13): c.183_203del21 (p.Ala65_Ala71del) deletion Pathogenic rs878854346 GRCh37 Chromosome 2, 176957801: 176957821
3 HOXD13 NM_000523.3(HOXD13): c.973C> A (p.Gln325Lys) single nucleotide variant Pathogenic rs875989842 GRCh38 Chromosome 2, 176094671: 176094671
4 HOXD13 NM_000523.3(HOXD13): c.973C> A (p.Gln325Lys) single nucleotide variant Pathogenic rs875989842 GRCh37 Chromosome 2, 176959399: 176959399

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

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 9.8 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
2 single fertilization GO:0007338 9.55 HOXD10 HOXD9
3 pattern specification process GO:0007389 9.54 HOXD12 HOXD13
4 skeletal system development GO:0001501 9.54 HOXD10 HOXD12 HOXD13
5 embryonic digit morphogenesis GO:0042733 9.52 HOXD12 HOXD13
6 embryonic limb morphogenesis GO:0030326 9.51 HOXD10 HOXD13
7 adult locomotory behavior GO:0008344 9.49 HOXD10 HOXD9
8 embryonic skeletal system morphogenesis GO:0048704 9.48 HOXD10 HOXD9
9 skeletal muscle tissue development GO:0007519 9.46 HOXD10 HOXD9
10 proximal/distal pattern formation GO:0009954 9.43 HOXD10 HOXD9
11 forelimb morphogenesis GO:0035136 9.32 HOXD10 HOXD9
12 hindlimb morphogenesis GO:0035137 9.26 HOXD10 HOXD9
13 peripheral nervous system neuron development GO:0048935 9.16 HOXD10 HOXD9
14 anterior/posterior pattern specification GO:0009952 9.13 HOXD10 HOXD13 HOXD9
15 multicellular organism development GO:0007275 9.1 EPHA7 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9

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 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
3 sequence-specific DNA binding GO:0043565 9.02 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9

Sources for Brachydactyly-Syndactyly 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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