MCID: BRC052
MIFTS: 14

Brachydactyly, Type B2 malady

Bone, Fetal categories

Summaries for Brachydactyly, Type B2

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Brachydactyly, Type B2, is also known as brachydactyly type b2, and has symptoms including syndactyly of fingers/interdigital palm, autosomal dominant inheritance and short hand/brachydactyly. An important gene associated with Brachydactyly, Type B2 is NOG (noggin).

Description from OMIM:47 611377

Aliases & Classifications for Brachydactyly, Type B2

Sources:
20GeneTests, 22GTR, 47OMIM, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Aliases & Descriptions:

brachydactyly, type b2 20 22 47 61
brachydactyly type b2 49


External Ids:

OMIM47 611377
ICD10 via Orphanet26 Q73.8

Related Diseases for Brachydactyly, Type B2

Clinical Features for Brachydactyly, Type B2

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

611377

Clinical synopsis from OMIM:

611377

Symptoms:

49 (show all 9)
  • syndactyly of fingers/interdigital palm
  • autosomal dominant inheritance
  • short hand/brachydactyly
  • short foot/brachydactyly of toes
  • absent/small fingernails/anonychia of hands
  • terminal/third phalangeal bone of fingers hypoplasia
  • carpal bones fusion/synostosis
  • symphalangy of fingers
  • distal phalangeal bones of toes hypoplasia/absence

Drugs & Therapeutics for Brachydactyly, Type B2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Brachydactyly, Type B2

Drug clinical trials:

Search ClinicalTrials for Brachydactyly, Type B2

Search NIH Clinical Center for Brachydactyly, Type B2

Search CenterWatch for Brachydactyly, Type B2

Genetic Tests for Brachydactyly, Type B2

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Brachydactyly, Type B2:

id Genetic test Affiliating Genes
1 Brachydactyly, Type B220 NOG
2 Brachydactyly Type B222

Anatomical Context for Brachydactyly, Type B2

Animal Models for Brachydactyly, Type B2 or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Brachydactyly, Type B2

Genetic Variations for Brachydactyly, Type B2

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Brachydactyly, Type B2:

63
id Symbol AA change Variation SNP ID
1NOGp.Pro35SerVAR_018324rs28937580
2NOGp.Pro35AlaVAR_036997
3NOGp.Ala36ProVAR_036998
4NOGp.Glu48LysVAR_036999
5NOGp.Arg167GlyVAR_037000
6NOGp.Pro187SerVAR_037001

Expression for genes affiliated with Brachydactyly, Type B2

Sources:
15Gene Expression Omnibus DataSets
See all sources

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

Pathways for genes affiliated with Brachydactyly, Type B2

Compounds for genes affiliated with Brachydactyly, Type B2

GO Terms for genes affiliated with Brachydactyly, Type B2

Products for genes affiliated with Brachydactyly, Type B2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachydactyly, Type B2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet