MCID: BRC024
MIFTS: 16

Brachydactyly Elbow Wrist Dysplasia malady

Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Brachydactyly Elbow Wrist Dysplasia

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Brachydactyly Elbow Wrist Dysplasia, Aliases & Descriptions:

Name: Brachydactyly Elbow Wrist Dysplasia 41
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 60
Brachydactyly - Elbow Wrist Dysplasia 47
 
Brachydactyly - Joint Dysplasia 47
Liebenberg Syndrome 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
brachydactyly - elbow wrist dysplasia:
Inheritance: Autosomal dominant


External Ids:

Orphanet47 1275
ICD10 via Orphanet26 Q73.8

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, brachydactyly syndrome and abnormality of the fingernails. 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 syndrome10.7
2brachydactyly10.2

Symptoms for Brachydactyly Elbow Wrist Dysplasia

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Symptoms:

 47 (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

HPO human phenotypes related to Brachydactyly Elbow Wrist Dysplasia:

(show all 11)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 brachydactyly syndrome hallmark (90%) HP:0001156
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 limitation of joint mobility hallmark (90%) HP:0001376
5 abnormality of the ulna hallmark (90%) HP:0002997
6 elbow dislocation hallmark (90%) HP:0003042
7 abnormality of the humerus hallmark (90%) HP:0003063
8 clinodactyly of the 5th finger hallmark (90%) HP:0004209
9 synostosis of carpal bones hallmark (90%) HP:0005048
10 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
11 abnormality of the distal phalanx of finger hallmark (90%) HP:0009832

Drugs & Therapeutics for Brachydactyly Elbow Wrist Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Brachydactyly Elbow Wrist Dysplasia

Search 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:

31
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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Compounds 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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Products for genes affiliated with Brachydactyly Elbow Wrist Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Brachydactyly Elbow Wrist Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet