MCID: BRC052
MIFTS: 23

Brachydactyly, Type B2 malady

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

Aliases & Classifications for Brachydactyly, Type B2

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Aliases & Descriptions for Brachydactyly, Type B2:

Name: Brachydactyly, Type B2 50 23 12 66
Brachydactyly B2 68 25
 
Bdb2 23 68
Brachydactyly Type B2 52

Characteristics:

Orphanet epidemiological data:

52
brachydactyly type b2:
Inheritance: Autosomal dominant

HPO:

62
brachydactyly, type b2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 611377
Orphanet52 ORPHA140908
ICD10 via Orphanet29 Q73.8
MedGen35 C1969652
MeSH37 D059327

Summaries for Brachydactyly, Type B2

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OMIM:50 Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in... (611377) more...

MalaCards based summary: Brachydactyly, Type B2, is also known as brachydactyly b2, and has symptoms including brachydactyly syndrome, anonychia and short toe. An important gene associated with Brachydactyly, Type B2 is NOG (Noggin). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:68 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

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Symptoms for Brachydactyly, Type B2

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Symptoms by clinical synopsis from OMIM:

611377

Clinical features from OMIM:

611377

Symptoms:

 52 (show all 9)
  • short foot
  • absent fingernail
  • short toe
  • short distal phalanx of toe
  • synostosis of carpal bones
  • type b brachydactyly
  • finger syndactyly
  • symphalangism affecting the phalanges of the hand
  • short distal phalanx of finger

HPO human phenotypes related to Brachydactyly, Type B2:

(show all 24)
id Description Frequency HPO Source Accession
1 brachydactyly syndrome hallmark (90%) HP:0001156
2 anonychia hallmark (90%) HP:0001798
3 short toe hallmark (90%) HP:0001831
4 short distal phalanx of finger hallmark (90%) HP:0009882
5 aplasia/hypoplasia of the distal phalanges of the toes hallmark (90%) HP:0010185
6 absent phalangeal crease common (75%) HP:0006109
7 aplasia/hypoplasia of the nails common (75%) HP:0008386
8 proximal placement of thumb common (75%) HP:0009623
9 aplasia/hypoplasia of the distal phalanges of the hand common (75%) HP:0009835
10 synostosis of carpal bones typical (50%) HP:0005048
11 finger syndactyly typical (50%) HP:0006101
12 tarsal synostosis typical (50%) HP:0008368
13 symphalangism affecting the phalanges of the hand typical (50%) HP:0009773
14 aplasia/hypoplasia of the middle phalanges of the hand typical (50%) HP:0009843
15 aplasia/hypoplasia of the distal phalanges of the toes frequent (33%) HP:0010185
16 aplasia/hypoplasia of the middle phalanges of the toes frequent (33%) HP:0010194
17 cutaneous finger syndactyly frequent (33%) HP:0010554
18 cutaneous syndactyly of toes frequent (33%) HP:0010621
19 proximal symphalangism of hands 16% HP:0006152
20 carpal synostosis 10% HP:0009702
21 sensorineural hearing impairment occasional (7.5%) HP:0000407
22 hypermetropia occasional (7.5%) HP:0000540
23 short 1st metacarpal 7% HP:0010034
24 distal symphalangism of hands rare (5%) HP:0001204

Drugs & Therapeutics for Brachydactyly, Type B2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachydactyly, Type B2

Genetic Tests for Brachydactyly, Type B2

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Genetic tests related to Brachydactyly, Type B2:

id Genetic test Affiliating Genes
1 Brachydactyly Type B225
2 Brachydactyly, Type B223 NOG

Anatomical Context for Brachydactyly, Type B2

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MalaCards organs/tissues related to Brachydactyly, Type B2:

34
Bone

Animal Models for Brachydactyly, Type B2 or affiliated genes

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Publications for Brachydactyly, Type B2

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Variations for Brachydactyly, Type B2

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

68
id Symbol AA change Variation ID SNP ID
1NOGp.Pro35SerVAR_018324rs28937580
2NOGp.Pro35AlaVAR_036997rs28937580
3NOGp.Ala36ProVAR_036998
4NOGp.Glu48LysVAR_036999
5NOGp.Arg167GlyVAR_037000rs121908949
6NOGp.Pro187SerVAR_037001

Clinvar genetic disease variations for Brachydactyly, Type B2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOGNM_005450.4(NOG): c.499C> G (p.Arg167Gly)single nucleotide variantPathogenicrs121908949GRCh37Chr 17, 54672083: 54672083
2NOGNM_005450.4(NOG): c.103C> T (p.Pro35Ser)single nucleotide variantPathogenicrs28937580GRCh37Chr 17, 54671687: 54671687
3NOGNM_005450.4(NOG): c.103C> G (p.Pro35Ala)single nucleotide variantPathogenicrs28937580GRCh37Chr 17, 54671687: 54671687

Expression for genes affiliated with Brachydactyly, Type B2

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

Pathways for genes affiliated with Brachydactyly, Type B2

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GO Terms for genes affiliated with Brachydactyly, Type B2

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Sources for Brachydactyly, Type B2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet