MCID: BRC024
MIFTS: 15

Brachydactyly Elbow Wrist Dysplasia malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Brachydactyly Elbow Wrist Dysplasia

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Sources:
51Orphanet, 45NIH Rare Diseases, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Brachydactyly Elbow Wrist Dysplasia:

Name: Brachydactyly Elbow Wrist Dysplasia 45
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 65
Brachydactyly-Elbow Wrist Dysplasia Syndrome 51
 
Brachydactyly-Joint Dysplasia Syndrome 51
Liebenberg Syndrome 51

Characteristics:

Orphanet epidemiological data:

51
brachydactyly-elbow wrist dysplasia syndrome:
Inheritance: Autosomal dominant

Classifications:



External Ids:

Orphanet51 1275
ICD10 via Orphanet28 Q73.8
UMLS65 C1861313

Summaries for Brachydactyly Elbow Wrist Dysplasia

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MalaCards based summary: Brachydactyly Elbow Wrist Dysplasia, also known as synostosis, carpal, with dysplastic elbow joints and brachydactyly, is related to liebenberg syndrome and brachydactyly, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus and radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray. An important gene associated with Brachydactyly Elbow Wrist Dysplasia is PITX1 (Paired Like Homeodomain 1). Affiliated tissues include bone.

Related Diseases for Brachydactyly Elbow Wrist Dysplasia

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Diseases related to Brachydactyly Elbow Wrist Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1liebenberg syndrome12.3
2brachydactyly9.9

Symptoms for Brachydactyly Elbow Wrist Dysplasia

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Symptoms:

 51 (show all 12)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • carpal bones fusion/synostosis
  • short hand/brachydactyly
  • terminal/third phalangeal bone of fingers broadened/deviated
  • clinodactyly of fifth finger
  • thin/hypoplastic/hyperconvex fingernails
  • restricted joint mobility/joint stiffness/ankylosis
  • elbow dislocation
  • autosomal dominant inheritance

Drugs & Therapeutics for Brachydactyly Elbow Wrist Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachydactyly Elbow Wrist Dysplasia

Genetic Tests for Brachydactyly Elbow Wrist Dysplasia

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Anatomical Context for Brachydactyly Elbow Wrist Dysplasia

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MalaCards organs/tissues related to Brachydactyly Elbow Wrist Dysplasia:

33
Bone

Animal Models for Brachydactyly Elbow Wrist Dysplasia or affiliated genes

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Publications for Brachydactyly Elbow Wrist Dysplasia

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Variations for Brachydactyly Elbow Wrist Dysplasia

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Expression for genes affiliated with Brachydactyly Elbow Wrist Dysplasia

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Search GEO for disease gene expression data for Brachydactyly Elbow Wrist Dysplasia.

Pathways for genes affiliated with Brachydactyly Elbow Wrist Dysplasia

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GO Terms for genes affiliated with Brachydactyly Elbow Wrist Dysplasia

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Sources for Brachydactyly Elbow Wrist Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet