BDB1
MCID: BRC051
MIFTS: 35

Brachydactyly, Type B1 (BDB1) malady

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

Aliases & Classifications for Brachydactyly, Type B1

Aliases & Descriptions for Brachydactyly, Type B1:

Name: Brachydactyly, Type B1 54 24 13
Brachydactyly Type B 50 56 66
Bdb1 12 24 66
Brachydactyly B1 66 29
Brachydactyly Type B1 12
Brachydactyly, Type B 52
Bdb 66

Characteristics:

Orphanet epidemiological data:

56
brachydactyly type b
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

HPO:

32
brachydactyly, type b1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 113000
Disease Ontology 12 DOID:0110969
Orphanet 56 ORPHA93383
UMLS via Orphanet 70 C1300267
ICD10 via Orphanet 34 Q73.8
MedGen 40 C1862112
MeSH 42 D059327

Summaries for Brachydactyly, Type B1

NIH Rare Diseases : 50 brachydactyly type b is a very rare genetic condition characterized by disproportionately short fingers and toes. the ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. the thumb bones are always intact but are frequently flattened and/or split. the feet are usually similarly affected, but less severely. other features that may be present include webbed fingers (syndactyly) and fusion of the joints (symphalangism) and bones in the hands and feet. only a few cases have been reported in the literature. this condition is caused by mutations in the ror2 gene. most cases have been shown to be inherited in an autosomal dominant fashion. last updated: 6/6/2011

MalaCards based summary : Brachydactyly, Type B1, also known as brachydactyly type b, is related to anonychia-onychodystrophy with brachydactyly type b and ectrodactyly and brachydactyly, combined b and e types, and has symptoms including finger syndactyly, broad hallux phalanx and short foot. An important gene associated with Brachydactyly, Type B1 is ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2), and among its related pathways/superpathways is Cardiac Progenitor Differentiation. Affiliated tissues include bone, and related phenotype is hearing/vestibular/ear.

Disease Ontology : 12 A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has material basis in heterozygous mutation in the ROR2 gene on chromosome 9q22.

UniProtKB/Swiss-Prot : 66 Brachydactyly B1: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature.

Description from OMIM: 113000

Related Diseases for Brachydactyly, Type B1

Graphical network of the top 20 diseases related to Brachydactyly, Type B1:



Diseases related to Brachydactyly, Type B1

Symptoms & Phenotypes for Brachydactyly, Type B1

Symptoms by clinical synopsis from OMIM:

113000

Clinical features from OMIM:

113000

Human phenotypes related to Brachydactyly, Type B1:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
2 broad hallux phalanx 56 32 Occasional (29-5%) HP:0010059
3 short foot 56 32 Very frequent (99-80%) HP:0001773
4 short distal phalanx of finger 56 32 Very frequent (99-80%) HP:0009882
5 synostosis of carpal bones 56 32 Occasional (29-5%) HP:0005048
6 symphalangism affecting the phalanges of the hand 56 32 Occasional (29-5%) HP:0009773
7 short metacarpal 56 32 Very frequent (99-80%) HP:0010049
8 absent fingernail 56 32 Very frequent (99-80%) HP:0001817
9 type b brachydactyly 56 32 Very frequent (99-80%) HP:0005831
10 2nd-5th toe middle phalangeal hypoplasia 56 32 Very frequent (99-80%) HP:0008083
11 broad thumb 32 HP:0011304
12 short long bone 32 HP:0003026
13 abnormality of the foot 32 HP:0001760
14 anonychia 32 HP:0001798
15 ventricular septal defect 32 HP:0001629
16 hemivertebrae 32 HP:0002937
17 vertebral fusion 32 HP:0002948
18 cutaneous finger syndactyly 32 HP:0010554
19 wide anterior fontanel 32 HP:0000260
20 micropenis 32 HP:0000054
21 delayed cranial suture closure 32 HP:0000270
22 camptodactyly 32 HP:0012385
23 syndactyly 32 HP:0001159
24 short middle phalanx of finger 32 HP:0005819
25 joint contracture of the hand 32 HP:0009473
26 delayed eruption of permanent teeth 32 HP:0000696
27 thoracolumbar scoliosis 32 HP:0002944
28 aplasia/hypoplasia of the distal phalanges of the hand 32 HP:0009835
29 hypoplastic sacrum 32 HP:0004590

MGI Mouse Phenotypes related to Brachydactyly, Type B1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 NOG ROR2

Drugs & Therapeutics for Brachydactyly, Type B1

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type B1

Genetic Tests for Brachydactyly, Type B1

Genetic tests related to Brachydactyly, Type B1:

id Genetic test Affiliating Genes
1 Brachydactyly Type B1 29
2 Brachydactyly, Type B1 24 ROR2

Anatomical Context for Brachydactyly, Type B1

MalaCards organs/tissues related to Brachydactyly, Type B1:

39
Bone

Publications for Brachydactyly, Type B1

Articles related to Brachydactyly, Type B1:

id Title Authors Year
1
A new mutation in the gene ROR2 causes brachydactyly type B1. ( 24954533 )
2014
2
[Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]. ( 21377971 )
2011
3
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. ( 19461659 )
2009
4
Brachydactyly type B1: report of a family with de novo ROR2 mutation. ( 17101003 )
2006

Variations for Brachydactyly, Type B1

ClinVar genetic disease variations for Brachydactyly, Type B1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ROR2 NM_004560.3(ROR2): c.2249delG (p.Gly750Alafs) deletion Pathogenic rs863223289 GRCh38 Chromosome 9, 91724245: 91724245
2 ROR2 ROR2, 1-BP INS, 1366C insertion Pathogenic
3 ROR2 NM_004560.3(ROR2): c.2265C> A (p.Tyr755Ter) single nucleotide variant Pathogenic rs121909082 GRCh37 Chromosome 9, 94486511: 94486511
4 ROR2 NM_004560.3(ROR2): c.2246G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894122 GRCh37 Chromosome 9, 94486530: 94486530
5 ROR2 NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs) deletion Pathogenic rs863223290 GRCh37 Chromosome 9, 94488884: 94488888
6 ROR2 NM_004560.3(ROR2): c.2247G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894121 GRCh37 Chromosome 9, 94486529: 94486529
7 ROR2 NM_004560.3(ROR2): c.2244delC (p.Trp749Glyfs) deletion Pathogenic rs863223292 GRCh37 Chromosome 9, 94486532: 94486532
8 ROR2 NM_004560.3(ROR2): c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs) insertion Pathogenic rs886042428 GRCh37 Chromosome 9, 94486624: 94486625

Expression for Brachydactyly, Type B1

Search GEO for disease gene expression data for Brachydactyly, Type B1.

Pathways for Brachydactyly, Type B1

Pathways related to Brachydactyly, Type B1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.35 NOG ROR2

GO Terms for Brachydactyly, Type B1

Biological processes related to Brachydactyly, Type B1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.32 NOG ROR2
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.26 NOG ROR2
3 skeletal system development GO:0001501 9.16 NOG ROR2
4 BMP signaling pathway GO:0030509 8.96 NOG ROR2
5 embryonic digit morphogenesis GO:0042733 8.62 NOG ROR2

Sources for Brachydactyly, Type B1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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