MCID: BRC051
MIFTS: 29

Brachydactyly, Type B1 malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Brachydactyly, Type B1

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Brachydactyly, Type B1, Aliases & Descriptions:

Name: Brachydactyly, Type B1 45 10 20 22
Brachydactyly Type B 41 47
 
Brachydactyly, Type B 43


Classifications:



Characteristics (Orphanet epidemiological data):

47
brachydactyly type b:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 113000
Orphanet47 93383
ICD10 via Orphanet26 Q73.8
UMLS via Orphanet61 C1300267

Summaries for Brachydactyly, Type B1

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NIH Rare Diseases:41 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 brachydactyly and robinow syndrome, and has symptoms including brachydactyly syndrome, abnormality of the metacarpal bones and anonychia. An important gene associated with Brachydactyly, Type B1 is ROR2 (receptor tyrosine kinase-like orphan receptor 2). Affiliated tissues include bone.

Description from OMIM:45 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:

 47 (show all 12)
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • terminal/third phalangeal bone of fingers hypoplasia
  • short foot/brachydactyly of toes
  • distal phalangeal bones of toes hypoplasia/absence
  • absent/small fingernails/anonychia of hands
  • autosomal dominant inheritance
  • carpal bones fusion/synostosis
  • syndactyly of fingers/interdigital palm
  • symphalangy of fingers
  • broad/bifid thumb
  • broad/bifid big toe

HPO human phenotypes related to Brachydactyly, Type B1:

(show all 32)
id Description Frequency HPO Source Accession
1 brachydactyly syndrome hallmark (90%) HP:0001156
2 abnormality of the metacarpal bones hallmark (90%) HP:0001163
3 anonychia hallmark (90%) HP:0001798
4 short toe hallmark (90%) HP:0001831
5 short distal phalanx of finger hallmark (90%) HP:0009882
6 aplasia/hypoplasia of the distal phalanges of the toes hallmark (90%) HP:0010185
7 preaxial foot polydactyly occasional (7.5%) HP:0001841
8 synostosis of carpal bones occasional (7.5%) HP:0005048
9 finger syndactyly occasional (7.5%) HP:0006101
10 abnormality of thumb phalanx occasional (7.5%) HP:0009602
11 symphalangism affecting the phalanges of the hand occasional (7.5%) HP:0009773
12 cutaneous finger syndactyly rare (5%) HP:0010554
13 autosomal dominant inheritance HP:0000006
14 micropenis HP:0000054
15 wide anterior fontanel HP:0000260
16 delayed cranial suture closure HP:0000270
17 delayed eruption of permanent teeth HP:0000696
18 syndactyly HP:0001159
19 ventricular septal defect HP:0001629
20 abnormality of the foot HP:0001760
21 anonychia HP:0001798
22 hemivertebrae HP:0002937
23 thoracolumbar scoliosis HP:0002944
24 vertebral fusion HP:0002948
25 short long bones HP:0003026
26 hypoplastic sacrum HP:0004590
27 short middle phalanx of finger HP:0005819
28 type b brachydactyly HP:0005831
29 joint contracture of the hand HP:0009473
30 aplasia/hypoplasia of the distal phalanges of the hand HP:0009835
31 broad thumb HP:0011304
32 camptodactyly HP:0012385

Drugs & Therapeutics for Brachydactyly, Type B1

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Drug clinical trials:

Search ClinicalTrials for Brachydactyly, Type B1

Search 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 B120 ROR2
2 Brachydactyly Type B122

Anatomical Context for Brachydactyly, Type B1

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MalaCards organs/tissues related to Brachydactyly, Type B1:

31
Bone

Animal Models for Brachydactyly, Type B1 or affiliated genes

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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:

6
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
3ROR2ROR2, 1-BP DEL, 2249GdeletionPathogenic
4ROR2ROR2, 5-BP DEL, 1321CGGCGdeletionPathogenic
5ROR2NM_004560.3(ROR2): c.2247G> A (p.Trp749Ter)single nucleotide variantPathogenicrs104894121GRCh37Chr 9, 94486529: 94486529
6ROR2ROR2, 1-BP INS, 1366CinsertionPathogenic
7ROR2ROR2, 1-BP DEL, 2243CdeletionPathogenic

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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Compounds for genes affiliated with Brachydactyly, Type B1

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GO Terms for genes affiliated with Brachydactyly, Type B1

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Products for genes affiliated with Brachydactyly, Type B1

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Sources for Brachydactyly, Type B1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet