BDB2
MCID: BRC052
MIFTS: 44

Brachydactyly, Type B2 (BDB2)

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

Aliases & Classifications for Brachydactyly, Type B2

MalaCards integrated aliases for Brachydactyly, Type B2:

Name: Brachydactyly, Type B2 57 13 40 73
Brachydactyly Type B2 12 59 29 6 15
Bdb2 57 12 75
Brachydactyly B2 75

Characteristics:

Orphanet epidemiological data:

59
brachydactyly type b2
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic to proximal symphalangism , multiple synostoses syndrome 1 , tarsal-carpal coalition syndrome , and stapes ankylosis syndrome without symphalangism


HPO:

32
brachydactyly, type b2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611377
Disease Ontology 12 DOID:0110975
ICD10 33 Q73.8
Orphanet 59 ORPHA140908
UMLS via Orphanet 74 C1969652
ICD10 via Orphanet 34 Q73.8
MedGen 42 C1969652
MeSH 44 D059327
UMLS 73 C1969652

Summaries for Brachydactyly, Type B2

Disease Ontology : 12 A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has material basis in mutations in the NOG gene on chromosome 17q22.

MalaCards based summary : Brachydactyly, Type B2, also known as brachydactyly type b2, is related to symphalangism, proximal, 1a and synostoses, tarsal, carpal, and digital. An important gene associated with Brachydactyly, Type B2 is NOG (Noggin), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. Affiliated tissues include bone, and related phenotypes are finger syndactyly and short foot

OMIM : 57 Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly. (611377)

UniProtKB/Swiss-Prot : 75 Brachydactyly B2: A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly.

Related Diseases for Brachydactyly, Type B2

Diseases in the Brachydactyly family:

Brachydactyly, Type A1 Brachydactyly, Type A2
Brachydactyly, Type A3 Brachydactyly, Type A4
Brachydactyly, Type B1 Brachydactyly, Type C
Brachydactyly, Type D Brachydactyly, Type E1
Brachydactyly, Type A1, B Brachydactyly, Type B2
Brachydactyly, Type E2 Brachydactyly, Type A1, C
Brachydactyly, Type A1, D Brachydactyly Type A5
Brachydactyly Type A7

Diseases related to Brachydactyly, Type B2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 symphalangism, proximal, 1a 10.2 NOG ROR2
2 synostoses, tarsal, carpal, and digital 10.2 GDF5 NOG
3 fibular hypoplasia and complex brachydactyly 10.2 GDF5 NOG
4 brachydactyly 10.1 GDF5 NOG ROR2
5 brachydactyly, type c 10.1 GDF5 NOG ROR2
6 brachydactyly, type a2 10.1 GDF5 NOG ROR2
7 synovial chondromatosis 10.1 FGF2 NOG
8 spastic paraplegia 25, autosomal recessive 10.1 FGF13 FGF2
9 brachydactyly, type a1 10.1 GDF5 ROR2
10 diffuse glomerulonephritis 10.1 FGF13 FGF2
11 gastric signet ring cell adenocarcinoma 10.1 FGF13 FGF2
12 autosomal dominant robinow syndrome 10.1 DVL1 ROR2 WNT5A
13 robinow syndrome 10.0 DVL1 ROR2 WNT5A
14 clivus chordoma 10.0 FGF13 FGF2
15 disuse amblyopia 10.0 FGF13 FGF2
16 nonspecific interstitial pneumonia 10.0 FGF2 IFNG
17 tarsal-carpal coalition syndrome 10.0 NOG ROR2 YIPF2
18 multiple synostoses syndrome 10.0 GDF5 NOG YIPF2
19 dendritic cell tumor 9.9 CD69 IFNG
20 refractory celiac disease 9.9 IFNG IL15
21 proximal symphalangism 9.9 GDF5 NOG ROR2 YIPF2
22 rasmussen encephalitis 9.8 IFNG IL15
23 autoimmune disease of gastrointestinal tract 9.7 IFNG IL15
24 brachydactyly, type b1 9.6 DVL1 FGF13 FGF2 NOG ROR2 WNT5A

Graphical network of the top 20 diseases related to Brachydactyly, Type B2:



Diseases related to Brachydactyly, Type B2

Symptoms & Phenotypes for Brachydactyly, Type B2

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
cutaneous syndactyly
short first metacarpal
carpal bone fusion
proximally placed thumb
variable terminal deficiency of fingers
more
Skeletal Feet:
tarsal bone fusion
variable terminal deficiency of toes

Skin Nails Hair Skin:
cutaneous syndactyly


Clinical features from OMIM:

611377

Human phenotypes related to Brachydactyly, Type B2:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
2 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
3 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
4 synostosis of carpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0005048
5 symphalangism affecting the phalanges of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0009773
6 absent fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001817
7 short distal phalanx of toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001857
8 type b brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0005831
9 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
10 short toe 59 Very frequent (99-80%)
11 cutaneous finger syndactyly 32 frequent (33%) HP:0010554
12 proximal placement of thumb 32 frequent (33%) HP:0009623
13 tarsal synostosis 32 frequent (33%) HP:0008368
14 short 1st metacarpal 32 very rare (1%) HP:0010034
15 aplasia/hypoplasia of the distal phalanges of the toes 32 frequent (33%) HP:0010185
16 aplasia/hypoplasia of the middle phalanges of the hand 32 frequent (33%) HP:0009843
17 hypermetropia 32 occasional (7.5%) HP:0000540
18 carpal synostosis 32 very rare (1%) HP:0009702
19 aplasia/hypoplasia of the nails 32 frequent (33%) HP:0008386
20 cutaneous syndactyly of toes 32 frequent (33%) HP:0010621
21 aplasia/hypoplasia of the distal phalanges of the hand 32 frequent (33%) HP:0009835
22 absent phalangeal crease 32 frequent (33%) HP:0006109
23 distal symphalangism of hands 32 very rare (1%) HP:0001204
24 proximal symphalangism of hands 32 very rare (1%) HP:0006152
25 aplasia/hypoplasia of the middle phalanges of the toes 32 frequent (33%) HP:0010194

MGI Mouse Phenotypes related to Brachydactyly, Type B2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 CD69 FGF13 FGF2 IFNG NOG ROR2
2 cardiovascular system MP:0005385 9.95 DVL1 FGF2 IFNG IL15 NOG ROR2
3 mortality/aging MP:0010768 9.85 DVL1 FGF13 FGF2 GDF5 IFNG IL15
4 embryo MP:0005380 9.8 DVL1 IFNG IL15 NOG ROR2 WNT5A
5 hearing/vestibular/ear MP:0005377 9.65 DVL1 FGF2 NOG ROR2 WNT5A
6 reproductive system MP:0005389 9.5 FGF2 GDF5 IFNG IL15 NOG ROR2
7 skeleton MP:0005390 9.23 CD69 DVL1 FGF2 GDF5 IFNG NOG

Drugs & Therapeutics for Brachydactyly, Type B2

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type B2

Genetic Tests for Brachydactyly, Type B2

Genetic tests related to Brachydactyly, Type B2:

# Genetic test Affiliating Genes
1 Brachydactyly Type B2 29 NOG

Anatomical Context for Brachydactyly, Type B2

MalaCards organs/tissues related to Brachydactyly, Type B2:

41
Bone

Publications for Brachydactyly, Type B2

Variations for Brachydactyly, Type B2

UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type B2:

75
# Symbol AA change Variation ID SNP ID
1 NOG p.Pro35Ser VAR_018324 rs28937580
2 NOG p.Pro35Ala VAR_036997 rs28937580
3 NOG p.Ala36Pro VAR_036998
4 NOG p.Glu48Lys VAR_036999
5 NOG p.Arg167Gly VAR_037000 rs121908949
6 NOG p.Pro187Ser VAR_037001

ClinVar genetic disease variations for Brachydactyly, Type B2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NOG NM_005450.4(NOG): c.499C> G (p.Arg167Gly) single nucleotide variant Pathogenic rs121908949 GRCh37 Chromosome 17, 54672083: 54672083
2 NOG NM_005450.4(NOG): c.499C> G (p.Arg167Gly) single nucleotide variant Pathogenic rs121908949 GRCh38 Chromosome 17, 56594722: 56594722
3 NOG NM_005450.4(NOG): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh37 Chromosome 17, 54671687: 54671687
4 NOG NM_005450.4(NOG): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh38 Chromosome 17, 56594326: 56594326
5 NOG NM_005450.4(NOG): c.103C> G (p.Pro35Ala) single nucleotide variant Pathogenic rs28937580 GRCh37 Chromosome 17, 54671687: 54671687
6 NOG NM_005450.4(NOG): c.103C> G (p.Pro35Ala) single nucleotide variant Pathogenic rs28937580 GRCh38 Chromosome 17, 56594326: 56594326

Expression for Brachydactyly, Type B2

Search GEO for disease gene expression data for Brachydactyly, Type B2.

Pathways for Brachydactyly, Type B2

Pathways related to Brachydactyly, Type B2 according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 DVL1 FGF13 FGF2 GDF5 IL15 ROR2
2
Show member pathways
13.29 FGF13 FGF2 GDF5 IFNG IL15 ROR2
3
Show member pathways
12.98 DVL1 FGF13 FGF2 GDF5 ROR2 WNT5A
4 12.52 DVL1 FGF2 IFNG IL15 WNT5A
5
Show member pathways
12.22 DVL1 FGF2 NOG WNT5A
6
Show member pathways
12.16 FGF13 FGF2 GDF5 ROR2
7 11.96 DVL1 IFNG WNT5A
8
Show member pathways
11.93 DVL1 FGF2 WNT5A
9 11.9 DVL1 GDF5 WNT5A
10 11.84 DVL1 FGF2 WNT5A
11 11.75 CD69 IFNG IL15
12
Show member pathways
11.73 FGF13 FGF2 GDF5 IFNG IL15
13 11.6 GDF5 IFNG NOG
14 11.58 FGF13 FGF2 NOG WNT5A
15
Show member pathways
11.56 FGF13 FGF2 GDF5 IFNG IL15
16 11.27 FGF2 NOG ROR2
17 11.1 IFNG IL15
18 11.05 IFNG IL15
19 11.03 ROR2 WNT5A
20 10.91 DVL1 ROR2 WNT5A
21 10.73 FGF13 FGF2 GDF5 IL15 ROR2
22 10.61 FGF2 GDF5 NOG WNT5A

GO Terms for Brachydactyly, Type B2

Cellular components related to Brachydactyly, Type B2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.56 CD69 IL15 ROR2 WNT5A
2 extracellular space GO:0005615 9.5 FGF2 GDF5 IFNG IL15 NOG TGFBI
3 extracellular region GO:0005576 9.23 FGF13 FGF2 GDF5 IFNG IL15 NOG
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 ROR2 WNT5A

Biological processes related to Brachydactyly, Type B2 according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.94 DVL1 FGF2 ROR2 WNT5A
2 positive regulation of cell proliferation GO:0008284 9.91 FGF2 IFNG IL15 WNT5A
3 cell-cell signaling GO:0007267 9.82 FGF13 GDF5 IL15
4 Wnt signaling pathway GO:0016055 9.8 DVL1 ROR2 WNT5A
5 axon guidance GO:0007411 9.79 DVL1 NOG WNT5A
6 wound healing GO:0042060 9.71 FGF2 NOG WNT5A
7 BMP signaling pathway GO:0030509 9.7 GDF5 NOG ROR2
8 cartilage development GO:0051216 9.67 GDF5 NOG WNT5A
9 embryonic skeletal system development GO:0048706 9.65 NOG WNT5A
10 positive regulation of JUN kinase activity GO:0043507 9.65 ROR2 WNT5A
11 chondrocyte differentiation GO:0002062 9.65 GDF5 TGFBI
12 epithelial to mesenchymal transition GO:0001837 9.63 NOG WNT5A
13 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.62 ROR2 WNT5A
14 negative regulation of smooth muscle cell proliferation GO:0048662 9.6 IFNG IL15
15 cochlea morphogenesis GO:0090103 9.59 DVL1 WNT5A
16 non-canonical Wnt signaling pathway GO:0035567 9.58 DVL1 WNT5A
17 regulation of cellular protein localization GO:1903827 9.58 DVL1 WNT5A
18 somite development GO:0061053 9.57 NOG WNT5A
19 presynapse assembly GO:0099054 9.56 DVL1 WNT5A
20 planar cell polarity pathway involved in neural tube closure GO:0090179 9.55 DVL1 WNT5A
21 embryonic digit morphogenesis GO:0042733 9.54 NOG ROR2 WNT5A
22 positive regulation of neuron projection arborization GO:0150012 9.51 DVL1 WNT5A
23 neural tube development GO:0021915 9.5 DVL1 NOG WNT5A
24 positive regulation of protein kinase C activity GO:1900020 9.48 ROR2 WNT5A
25 chondroblast differentiation GO:0060591 9.46 FGF2 GDF5
26 positive regulation of protein phosphorylation GO:0001934 9.46 DVL1 IFNG ROR2 WNT5A
27 convergent extension involved in organogenesis GO:0060029 9.43 DVL1 WNT5A
28 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.43 DVL1 ROR2 WNT5A
29 notochord morphogenesis GO:0048570 9.4 NOG WNT5A
30 negative regulation of canonical Wnt signaling pathway GO:0090090 9.26 DVL1 NOG ROR2 WNT5A
31 regulation of signaling receptor activity GO:0010469 9.1 FGF13 FGF2 GDF5 IFNG IL15 WNT5A
32 multicellular organism development GO:0007275 10.01 DVL1 FGF2 NOG ROR2 WNT5A

Molecular functions related to Brachydactyly, Type B2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 CD69 DVL1 FGF13 FGF2 GDF5 IFNG
2 growth factor activity GO:0008083 9.43 FGF13 FGF2 GDF5
3 frizzled binding GO:0005109 9.13 DVL1 ROR2 WNT5A
4 cytokine activity GO:0005125 9.02 FGF2 GDF5 IFNG IL15 WNT5A

Sources for Brachydactyly, Type B2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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