MCID: BRC052
MIFTS: 22

Brachydactyly, Type B2 malady

Bone diseases, Fetal diseases categories

Summaries for Brachydactyly, Type B2

About this section
Sources:
46OMIM, 32MalaCards
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 symphalangy of fingers, syndactyly of fingers/interdigital palm and carpal bones fusion/synostosis. An important gene associated with Brachydactyly, Type B2 is NOG (noggin). Affiliated tissues include bone.

Description from OMIM:46 611377

Aliases & Classifications for Brachydactyly, Type B2

About this section
Sources:
20GeneTests, 22GTR, 46OMIM, 60UMLS, 48Orphanet, 26ICD10 via Orphanet
See all sources

Related Diseases for Brachydactyly, Type B2

About this section

Clinical Features for Brachydactyly, Type B2

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

611377

Clinical synopsis from OMIM:

611377

Symptoms:

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

Drugs & Therapeutics for Brachydactyly, Type B2

About this section
Sources:
5CenterWatch, 41NIH 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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Brachydactyly, Type B2:

32
Bone

Animal Models for Brachydactyly, Type B2 or affiliated genes

About this section

Publications for Brachydactyly, Type B2

About this section

Genetic Variations for Brachydactyly, Type B2

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Brachydactyly, Type B2:

62
id Symbol AA change Variation ID 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

About this section
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

About this section

Compounds for genes affiliated with Brachydactyly, Type B2

About this section

GO Terms for genes affiliated with Brachydactyly, Type B2

About this section

Products for genes affiliated with Brachydactyly, Type B2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachydactyly, Type B2

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet