MCID: BRC051
MIFTS: 35

Brachydactyly, Type B1 malady

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

Aliases & Classifications for Brachydactyly, Type B1

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Sources:
50OMIM, 23GeneTests, 12diseasecard, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 48Novoseek, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Brachydactyly, Type B1:

Name: Brachydactyly, Type B1 50 23 12
Brachydactyly Type B 46 52 68
Brachydactyly B1 68 25
 
Bdb1 23 68
Brachydactyly, Type B 48
Bdb 68

Characteristics:

Orphanet epidemiological data:

52
brachydactyly type b:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
brachydactyly, type b1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 113000
Orphanet52 ORPHA93383
ICD10 via Orphanet29 Q73.8
UMLS via Orphanet67 C1300267
MedGen35 C1862112
MeSH37 D059327

Summaries for Brachydactyly, Type B1

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NIH Rare Diseases:46 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 abnormality of the metacarpal bones, anonychia and short toe. An important gene associated with Brachydactyly, Type B1 is ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2), and among its related pathways is Cardiac Progenitor Differentiation. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

UniProtKB/Swiss-Prot:68 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:50 113000

Related Diseases for Brachydactyly, Type B1

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Graphical network of diseases related to Brachydactyly, Type B1:



Diseases related to brachydactyly, type b1

Symptoms for Brachydactyly, Type B1

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Symptoms by clinical synopsis from OMIM:

113000

Clinical features from OMIM:

113000

Symptoms:

 52 (show all 10)
  • short foot
  • absent fingernail
  • synostosis of carpal bones
  • type b brachydactyly
  • finger syndactyly
  • 2nd-5th toe middle phalangeal hypoplasia
  • symphalangism affecting the phalanges of the hand
  • short distal phalanx of finger
  • short metacarpal
  • broad hallux phalanx

HPO human phenotypes related to Brachydactyly, Type B1:

(show all 29)
id Description Frequency HPO Source Accession
1 abnormality of the metacarpal bones hallmark (90%) HP:0001163
2 anonychia hallmark (90%) HP:0001798
3 short toe hallmark (90%) HP:0001831
4 short distal phalanx of finger hallmark (90%) HP:0009882
5 aplasia/hypoplasia of the distal phalanges of the toes hallmark (90%) HP:0010185
6 preaxial foot polydactyly occasional (7.5%) HP:0001841
7 synostosis of carpal bones occasional (7.5%) HP:0005048
8 abnormality of thumb phalanx occasional (7.5%) HP:0009602
9 symphalangism affecting the phalanges of the hand occasional (7.5%) HP:0009773
10 cutaneous finger syndactyly rare (5%) HP:0010554
11 micropenis HP:0000054
12 wide anterior fontanel HP:0000260
13 delayed cranial suture closure HP:0000270
14 delayed eruption of permanent teeth HP:0000696
15 syndactyly HP:0001159
16 ventricular septal defect HP:0001629
17 abnormality of the foot HP:0001760
18 anonychia HP:0001798
19 hemivertebrae HP:0002937
20 thoracolumbar scoliosis HP:0002944
21 vertebral fusion HP:0002948
22 short long bone HP:0003026
23 hypoplastic sacrum HP:0004590
24 short middle phalanx of finger HP:0005819
25 type b brachydactyly HP:0005831
26 joint contracture of the hand HP:0009473
27 aplasia/hypoplasia of the distal phalanges of the hand HP:0009835
28 broad thumb HP:0011304
29 camptodactyly HP:0012385

Drugs & Therapeutics for Brachydactyly, Type B1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachydactyly, Type B1

Genetic Tests for Brachydactyly, Type B1

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Genetic tests related to Brachydactyly, Type B1:

id Genetic test Affiliating Genes
1 Brachydactyly Type B125
2 Brachydactyly, Type B123 ROR2

Anatomical Context for Brachydactyly, Type B1

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MalaCards organs/tissues related to Brachydactyly, Type B1:

34
Bone

Animal Models for Brachydactyly, Type B1 or affiliated genes

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MGI Mouse Phenotypes related to Brachydactyly, Type B1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1NOG, ROR2
2MP:00053779.0NOG, ROR2

Publications for Brachydactyly, Type B1

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Articles related to Brachydactyly, Type B1:

idTitleAuthorsYear
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

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Clinvar genetic disease variations for Brachydactyly, Type B1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ROR2NM_004560.3(ROR2): c.2265C> A (p.Tyr755Ter)single nucleotide variantPathogenicrs121909082GRCh37Chr 9, 94486511: 94486511
2ROR2NM_004560.3(ROR2): c.2246G> A (p.Trp749Ter)single nucleotide variantPathogenicrs104894122GRCh37Chr 9, 94486530: 94486530
3ROR2NM_004560.3(ROR2): c.2249delG (p.Gly750Alafs)deletionPathogenicrs863223289GRCh37Chr 9, 94486527: 94486527
4ROR2NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs)deletionPathogenicrs863223290GRCh37Chr 9, 94488884: 94488888
5ROR2NM_004560.3(ROR2): c.2247G> A (p.Trp749Ter)single nucleotide variantPathogenicrs104894121GRCh37Chr 9, 94486529: 94486529
6ROR2ROR2, 1-BP INS, 1366CinsertionPathogenic
7ROR2NM_004560.3(ROR2): c.2244delC (p.Trp749Glyfs)deletionPathogenicrs863223292GRCh37Chr 9, 94486532: 94486532

Expression for genes affiliated with Brachydactyly, Type B1

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

Pathways for genes affiliated with Brachydactyly, Type B1

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

idSuper pathwaysScoreTop Affiliating Genes
19.1NOG, ROR2

GO Terms for genes affiliated with Brachydactyly, Type B1

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

idNameGO IDScoreTop Affiliating Genes
1embryonic digit morphogenesisGO:00427339.4NOG, ROR2
2negative regulation of canonical Wnt signaling pathwayGO:00900909.1NOG, ROR2
3BMP signaling pathwayGO:00305098.8NOG, ROR2

Sources for Brachydactyly, Type B1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet