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:
48Orphanet, 42NIH Rare Diseases, 61UMLS, 26ICD10 via Orphanet
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Aliases & Descriptions for Brachydactyly Elbow Wrist Dysplasia:

Name: Brachydactyly Elbow Wrist Dysplasia 42
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 61
Brachydactyly - Elbow Wrist Dysplasia 48
 
Brachydactyly - Joint Dysplasia 48
Liebenberg Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
brachydactyly - elbow wrist dysplasia:
Inheritance: Autosomal dominant


External Ids:

Orphanet48 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:

 48 (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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Sources for Brachydactyly Elbow Wrist Dysplasia

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet