MCID: PTR029
MIFTS: 17

Pterygium, Antecubital

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Pterygium, Antecubital

MalaCards integrated aliases for Pterygium, Antecubital:

Name: Pterygium, Antecubital 54 69
Pterygium Antecubital 50 29
Antecubital Pterygium Syndrome 56
Antecubital Pterygium 50

Characteristics:

Orphanet epidemiological data:

56
antecubital pterygium syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
most reported cases come from the island of mauritius or nearby islands


HPO:

32
pterygium, antecubital:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 178200
Orphanet 56 ORPHA2987
UMLS via Orphanet 70 C1867439
SNOMED-CT via HPO 65 263681008

Summaries for Pterygium, Antecubital

NIH Rare Diseases : 50 antecubital pterygium is characterized by and antecubital webbing, posterior subluxation (dislocation) of radial head, maldevelopment of radioulnar joint, and limited elbow extension with unimpeded elbow flexion. most reported cases come from the island of mauritius or nearby islands. it is inherited in an autosomal dominant fashion. this condition is sometimes found as a symptom of nail-patella syndrome. last updated: 12/16/2011

MalaCards based summary : Pterygium, Antecubital, also known as pterygium antecubital, is related to nail-patella syndrome and cleft lip, and has symptoms including limited elbow extension, posterior subluxation of radial head and maldevelopment of radioulnar joint. Affiliated tissues include skin.

OMIM : 54
Antecubital pterygium syndrome is an autosomal dominant disorder characterized by a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension, and missing skin creases over the terminal interphalangeal joints of the fingers (summary by Wallis et al., 1988). (178200)

Related Diseases for Pterygium, Antecubital

Diseases related to Pterygium, Antecubital via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 nail-patella syndrome 10.1
2 cleft lip 9.9
3 cleft lip/palate 9.9

Symptoms & Phenotypes for Pterygium, Antecubital

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Limbs:
posterior subluxation of radial head
maldevelopment of radioulnar joint
limited elbow extension with unimpeded elbow flexion

Skin Nails & Hair- Skin:
antecubial webbing


Clinical features from OMIM:

178200

Human phenotypes related to Pterygium, Antecubital:

32
id Description HPO Frequency HPO Source Accession
1 limited elbow extension 32 HP:0001377
2 posterior subluxation of radial head 32 HP:0005739
3 maldevelopment of radioulnar joint 32 HP:0005829
4 antecubital pterygium 32 HP:0009760

Drugs & Therapeutics for Pterygium, Antecubital

Search Clinical Trials , NIH Clinical Center for Pterygium, Antecubital

Genetic Tests for Pterygium, Antecubital

Genetic tests related to Pterygium, Antecubital:

id Genetic test Affiliating Genes
1 Pterygium Antecubital 29

Anatomical Context for Pterygium, Antecubital

MalaCards organs/tissues related to Pterygium, Antecubital:

39
Skin

Publications for Pterygium, Antecubital

Variations for Pterygium, Antecubital

Expression for Pterygium, Antecubital

Search GEO for disease gene expression data for Pterygium, Antecubital.

Pathways for Pterygium, Antecubital

GO Terms for Pterygium, Antecubital

Sources for Pterygium, Antecubital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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