MCID: BRC051
MIFTS: 37

Brachydactyly, Type B1

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

Aliases & Classifications for Brachydactyly, Type B1

MalaCards integrated aliases for Brachydactyly, Type B1:

Name: Brachydactyly, Type B1 53 13
Brachydactyly Type B 72 49 55 71
Bdb1 53 12 71
Brachydactyly, Type B 53 51
Brachydactyly Type B1 12 28
Bdb 53 71
Brachydactyly, Type B; Bdb 53
Brachydactyly B1 71

Characteristics:

Orphanet epidemiological data:

55
brachydactyly type b
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
allelic to robinow syndrome, autosomal recessive


HPO:

31
brachydactyly, type b1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 113000
Disease Ontology 12 DOID:0110969
Orphanet 55 ORPHA93383
UMLS via Orphanet 70 C1300267
ICD10 via Orphanet 33 Q73.8
MedGen 39 C1862112
MeSH 41 D059327

Summaries for Brachydactyly, Type B1

NIH Rare Diseases : 49 Brachydactyly type B (BDB) is a condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons. Last updated: 7/24/2017

MalaCards based summary : Brachydactyly, Type B1, also known as brachydactyly type b, is related to brachydactyly and anonychia-onychodystrophy with brachydactyly type b and ectrodactyly, 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 : 71 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.

Wikipedia : 72 Brachydactyly (Greek βραχύς = \"short\" plus δάκτυλος = \"finger\"), is a medical term which literally... more...

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 via clinical synopsis from OMIM:

53
Skeletal Hands:
camptodactyly
syndactyly
hypoplastic/aplastic distal phalanges (fingers 2-5)
hypoplastic middle phalanges (fingers 2-5)
symphalangism
more
Skin Nails Hair Skin:
cutaneous syndactyly (less common)

Skeletal Feet:
hypoplastic/aplastic distal phalanges

Skin Nails Hair Nails:
hypoplastic/aplastic fingernails


Clinical features from OMIM:

113000

Human phenotypes related to Brachydactyly, Type B1:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
2 broad hallux phalanx 55 31 occasional (7.5%) Occasional (29-5%) HP:0010059
3 short foot 55 31 hallmark (90%) Very frequent (99-80%) HP:0001773
4 short distal phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009882
5 synostosis of carpal bones 55 31 occasional (7.5%) Occasional (29-5%) HP:0005048
6 symphalangism affecting the phalanges of the hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0009773
7 short metacarpal 55 31 hallmark (90%) Very frequent (99-80%) HP:0010049
8 absent fingernail 55 31 hallmark (90%) Very frequent (99-80%) HP:0001817
9 type b brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0005831
10 2nd-5th toe middle phalangeal hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008083
11 broad thumb 31 HP:0011304
12 short long bone 31 HP:0003026
13 anonychia 31 HP:0001798
14 ventricular septal defect 31 HP:0001629
15 wide anterior fontanel 31 HP:0000260
16 hemivertebrae 31 HP:0002937
17 vertebral fusion 31 HP:0002948
18 cutaneous finger syndactyly 31 occasional (7.5%) HP:0010554
19 hypoplastic fingernail 31 HP:0001804
20 micropenis 31 HP:0000054
21 delayed cranial suture closure 31 HP:0000270
22 camptodactyly 31 HP:0012385
23 syndactyly 31 HP:0001159
24 aplasia/hypoplasia of the distal phalanges of the toes 31 HP:0010185
25 short middle phalanx of finger 31 HP:0005819
26 joint contracture of the hand 31 HP:0009473
27 delayed eruption of permanent teeth 31 HP:0000696
28 thoracolumbar scoliosis 31 HP:0002944
29 hypoplastic sacrum 31 HP:0004590

MGI Mouse Phenotypes related to Brachydactyly, Type B1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 NOG ROR2

Drugs & Therapeutics for Brachydactyly, Type B1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search NIH Clinical Center for Brachydactyly, Type B1

Genetic Tests for Brachydactyly, Type B1

Genetic tests related to Brachydactyly, Type B1:

# Genetic test Affiliating Genes
1 Brachydactyly Type B1 28 ROR2

Anatomical Context for Brachydactyly, Type B1

MalaCards organs/tissues related to Brachydactyly, Type B1:

38
Bone

Publications for Brachydactyly, Type B1

Articles related to Brachydactyly, Type B1:

(show all 21)
# Title Authors Year
1
A new mutation in the gene ROR2 causes brachydactyly type B1. ( 24954533 )
2014
2
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. ( 23238279 )
2013
3
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. ( 20962035 )
2011
4
[Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]. ( 21377971 )
2011
5
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. ( 19461659 )
2009
6
Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. ( 19146779 )
2009
7
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. ( 19640924 )
2009
8
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. ( 17668388 )
2007
9
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. ( 17163524 )
2007
10
Brachydactyly type B1: report of a family with de novo ROR2 mutation. ( 17101003 )
2006
11
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. ( 17061261 )
2006
12
[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B]. ( 14767912 )
2004
13
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. ( 12815588 )
2003
14
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. ( 10986040 )
2000
15
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. ( 10700182 )
2000
16
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. ( 10932186 )
2000
17
Brachydactyly type B: case report and further evidence for clinical heterogeneity. ( 10457848 )
1999
18
Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. ( 10327250 )
1999
19
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. ( 9973296 )
1999
20
Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. ( 9973295 )
1999
21
Brachydactyly type B and symphalangism in different members of a Mexican family. ( 1081366 )
1975

Variations for Brachydactyly, Type B1

ClinVar genetic disease variations for Brachydactyly, Type B1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ROR2 NM_004560.3(ROR2): c.2246G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894122 GRCh37 Chromosome 9, 94486530: 94486530
2 ROR2 NM_004560.3(ROR2): c.2265C> A (p.Tyr755Ter) single nucleotide variant Pathogenic rs121909082 GRCh37 Chromosome 9, 94486511: 94486511
3 ROR2 NM_004560.3(ROR2): c.2249delG (p.Gly750Alafs) deletion Pathogenic rs863223289 GRCh37 Chromosome 9, 94486527: 94486527
4 ROR2 NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs) deletion Pathogenic rs863223290 GRCh37 Chromosome 9, 94488884: 94488888
5 ROR2 NM_004560.3(ROR2): c.2247G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894121 GRCh37 Chromosome 9, 94486529: 94486529
6 ROR2 ROR2, 1-BP INS, 1366C insertion Pathogenic
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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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