MCID: BRC052
MIFTS: 21

Brachydactyly, Type B2 malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Brachydactyly, Type B2

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47OMIM, 33MalaCards
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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:47 611377

Aliases & Classifications for Brachydactyly, Type B2

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20GeneTests, 22GTR, 47OMIM, 62UMLS, 49Orphanet, 26ICD10 via Orphanet
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Related Diseases for Brachydactyly, Type B2

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Symptoms for Brachydactyly, Type B2

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

611377

Clinical features from OMIM:

611377

Symptoms:

49 (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

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Brachydactyly, Type B2

Search NIH Clinical Center for Brachydactyly, Type B2

Genetic Tests for Brachydactyly, Type B2

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20GeneTests, 22GTR
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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

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33MalaCards
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MalaCards organs/tissues related to Brachydactyly, Type B2:

33
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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type B2:

64
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

Clinvar genetic disease variations for Brachydactyly, Type B2:

1
id Gene Name 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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15Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Brachydactyly, Type B2

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GO Terms for genes affiliated with Brachydactyly, Type B2

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Products for genes affiliated with Brachydactyly, Type B2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachydactyly, Type B2

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet