BDC
MCID: BRC039
MIFTS: 29

Brachydactyly Type C (BDC) malady

Bone diseases, Fetal diseases categories

Summaries for Brachydactyly Type C

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46OMIM, 32MalaCards
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MalaCards: Brachydactyly Type C, also known as brachydactyly, type c, is related to brachydactyly and bazex-dupre-christol syndrome, and has symptoms including short stature/dwarfism/nanism, talipes-valgus and clinodactyly of fifth finger. An important gene associated with Brachydactyly Type C is GDF5 (growth differentiation factor 5), and among its related pathways are PEDF Induced Signaling and Rho Family GTPases. The compound threonine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotype limbs/digits/tail.

Description from OMIM:46 113100

Aliases & Classifications for Brachydactyly Type C

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
brachydactyly type c:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

brachydactyly type c 42 20 22 48 60
brachydactyly, type c 46 44
brachydactyly haws type 42
bdc 42


External Ids:

OMIM46 113100
MESH via Orphanet35 C537093
ICD10 via Orphanet26 Q73.8
SNOMED-CT via Orphanet57 389169005
UMLS via Orphanet61 C1300268, C1862103

Related Diseases for Brachydactyly Type C

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Brachydactyly Type C:



Diseases related to brachydactyly type c

Clinical Features for Brachydactyly Type C

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46OMIM, 48Orphanet
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Clinical features from OMIM:

113100

Clinical synopsis from OMIM:

113100

Symptoms:

48 (show all 11)
  • short stature/dwarfism/nanism
  • talipes-valgus
  • clinodactyly of fifth finger
  • symphalangy of fingers
  • cone epiphyses/epiphysis
  • thin/hypoplastic/hyperconvex fingernails
  • short foot/brachydactyly of toes
  • autosomal dominant inheritance
  • ulnar deviation of fingers
  • metacarpal anomalies/archibald's sign
  • short hand/brachydactyly

Drugs & Therapeutics for Brachydactyly Type C

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Brachydactyly Type C

Drug clinical trials:

Search ClinicalTrials for Brachydactyly Type C

Search NIH Clinical Center for Brachydactyly Type C

Search CenterWatch for Brachydactyly Type C

Genetic Tests for Brachydactyly Type C

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20GeneTests, 22GTR
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Genetic tests related to Brachydactyly Type C:

id Genetic test Affiliating Genes
1 Brachydactyly Type C20 22 GDF5

Anatomical Context for Brachydactyly Type C

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32MalaCards
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MalaCards organs/tissues related to Brachydactyly Type C:

32
Bone

Animal Models for Brachydactyly Type C or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Brachydactyly Type C:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1GDF5, BMPR1B

Publications for Brachydactyly Type C

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Genetic Variations for Brachydactyly Type C

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Brachydactyly Type C:

62
id Symbol AA change Variation ID SNP ID
1GDF5p.Met173ValVAR_037978rs28936397

Expression for genes affiliated with Brachydactyly Type C

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brachydactyly Type C

Search GEO for disease gene expression data for Brachydactyly Type C.

Pathways for genes affiliated with Brachydactyly Type C

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Sources:
51QIAGEN, 29KEGG, 55SinoBiological
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Compounds for genes affiliated with Brachydactyly Type C

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Sources:
44Novoseek
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Compounds related to Brachydactyly Type C according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1threonine449.1GDF5, BMPR1B

GO Terms for genes affiliated with Brachydactyly Type C

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Products for genes affiliated with Brachydactyly Type C

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachydactyly Type C

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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