MCID: BRC051
MIFTS: 38

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:
49OMIM, 11diseasecard, 22GeneTests, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Brachydactyly, Type B1:

Name: Brachydactyly, Type B1 49 11 22
Brachydactyly Type B 45 51 67
Brachydactyly B1 67 24
 
Bdb1 22 67
Brachydactyly, Type B 47
Bdb 67

Characteristics:

Orphanet epidemiological data:

51
brachydactyly type b:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

61
brachydactyly, type b1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 113000
Orphanet51 93383
ICD10 via Orphanet28 Q73.8
UMLS via Orphanet66 C1300267
MedGen34 C1862112
MeSH36 D059327

Summaries for Brachydactyly, Type B1

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NIH Rare Diseases:45 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 types b and e combined and anonychia-onychodystrophy with brachydactyly type b and ectrodactyly, and has symptoms including aplasia/hypoplasia of the distal phalanges of the toes, short distal phalanx of finger 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, liver and t cells, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

UniProtKB/Swiss-Prot:67 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:49 113000

Related Diseases for Brachydactyly, Type B1

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Graphical network of the top 20 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:

 51 (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 29)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the distal phalanges of the toes hallmark (90%) HP:0010185
2 short distal phalanx of finger hallmark (90%) HP:0009882
3 short toe hallmark (90%) HP:0001831
4 anonychia hallmark (90%) HP:0001798
5 abnormality of the metacarpal bones hallmark (90%) HP:0001163
6 symphalangism affecting the phalanges of the hand occasional (7.5%) HP:0009773
7 abnormality of thumb phalanx occasional (7.5%) HP:0009602
8 synostosis of carpal bones occasional (7.5%) HP:0005048
9 preaxial foot polydactyly occasional (7.5%) HP:0001841
10 cutaneous finger syndactyly rare (5%) HP:0010554
11 camptodactyly HP:0012385
12 broad thumb HP:0011304
13 aplasia/hypoplasia of the distal phalanges of the hand HP:0009835
14 joint contracture of the hand HP:0009473
15 type b brachydactyly HP:0005831
16 short middle phalanx of finger HP:0005819
17 hypoplastic sacrum HP:0004590
18 short long bone HP:0003026
19 vertebral fusion HP:0002948
20 thoracolumbar scoliosis HP:0002944
21 hemivertebrae HP:0002937
22 anonychia HP:0001798
23 abnormality of the foot HP:0001760
24 ventricular septal defect HP:0001629
25 syndactyly HP:0001159
26 delayed eruption of permanent teeth HP:0000696
27 delayed cranial suture closure HP:0000270
28 wide anterior fontanel HP:0000260
29 micropenis HP:0000054

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 B122 ROR2

Anatomical Context for Brachydactyly, Type B1

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MalaCards organs/tissues related to Brachydactyly, Type B1:

33
Bone, Liver, T cells

Animal Models for Brachydactyly, Type B1 or affiliated genes

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MGI Mouse Phenotypes related to Brachydactyly, Type B1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1NOG, ROR2
2MP:00053779.1NOG, ROR2

Publications for Brachydactyly, Type B1

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Articles related to Brachydactyly, Type B1:

idTitleAuthorsYear
1
Antagonism of the chemokine Ccl5 ameliorates experimental liver fibrosis in mice. (20978355)
2010
2
Adiponectin is present in the urine in its native conformation, and specifically reduces the secretion of MCP-1 by proximal tubular cells. (18522702)
2008
3
High expression of somatostatin receptor subtype 2 (sst2) in medulloblastoma: implications for diagnosis and therapy. (10231868)
1999
4
HTLV-I-induced T-cell activation. (8797712)
1996

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
1BMP signaling pathwayGO:00305099.1NOG, ROR2
2embryonic digit morphogenesisGO:00427339.0NOG, ROR2

Sources for Brachydactyly, Type B1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet