MCID: BRC051
MIFTS: 35

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 54 24 13
Brachydactyly Type B 50 56 71
Bdb1 12 24 71
Brachydactyly Type B1 12 29
Brachydactyly, Type B 52
Brachydactyly B1 71
Bdb 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
allelic to robinow syndrome, autosomal recessive


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 (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 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly and coloboma of macula with type b brachydactyly, and has symptoms including finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia and short metacarpal. 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.

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.

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.

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:

54

Skeletal- Hands:
broad thumbs
camptodactyly
syndactyly
hypoplastic/aplastic distal phalanges (fingers 2-5)
hypoplastic middle phalanges (fingers 2-5)
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:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
2 2nd-5th toe middle phalangeal hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008083
3 short metacarpal 56 32 hallmark (90%) Very frequent (99-80%) HP:0010049
4 type b brachydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0005831
5 broad hallux phalanx 56 32 occasional (7.5%) Occasional (29-5%) HP:0010059
6 short foot 56 32 hallmark (90%) Very frequent (99-80%) HP:0001773
7 short distal phalanx of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009882
8 synostosis of carpal bones 56 32 occasional (7.5%) Occasional (29-5%) HP:0005048
9 symphalangism affecting the phalanges of the hand 56 32 occasional (7.5%) Occasional (29-5%) HP:0009773
10 absent fingernail 56 32 hallmark (90%) Very frequent (99-80%) HP:0001817
11 micropenis 32 HP:0000054
12 hemivertebrae 32 HP:0002937
13 camptodactyly 32 HP:0012385
14 ventricular septal defect 32 HP:0001629
15 delayed eruption of permanent teeth 32 HP:0000696
16 syndactyly 32 HP:0001159
17 wide anterior fontanel 32 HP:0000260
18 anonychia 32 HP:0001798
19 thoracolumbar scoliosis 32 HP:0002944
20 broad thumb 32 HP:0011304
21 hypoplastic sacrum 32 HP:0004590
22 vertebral fusion 32 HP:0002948
23 short long bone 32 HP:0003026
24 abnormality of the foot 32 HP:0001760
25 cutaneous finger syndactyly 32 occasional (7.5%) HP:0010554
26 delayed cranial suture closure 32 HP:0000270
27 short middle phalanx of finger 32 HP:0005819
28 joint contracture of the hand 32 HP:0009473
29 aplasia/hypoplasia of the distal phalanges of the hand 32 HP:0009835

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.2265C> A (p.Tyr755Ter) single nucleotide variant Pathogenic rs121909082 GRCh37 Chromosome 9, 94486511: 94486511
2 ROR2 NM_004560.3(ROR2): c.2246G> A (p.Trp749Ter) single nucleotide variant Pathogenic rs104894122 GRCh37 Chromosome 9, 94486530: 94486530
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:

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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