MCID: PTR029
MIFTS: 20

Pterygium, Antecubital

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Pterygium, Antecubital

MalaCards integrated aliases for Pterygium, Antecubital:

Name: Pterygium, Antecubital 57 73
Antecubital Pterygium 53 29
Antecubital Pterygium Syndrome 59
Pterygium Antecubital 53

Characteristics:

Orphanet epidemiological data:

59
antecubital pterygium syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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: 59  
Rare skin diseases


External Ids:

OMIM 57 178200
Orphanet 59 ORPHA2987
UMLS via Orphanet 74 C1867439
MedGen 42 C1867439
SNOMED-CT via HPO 69 263681008
UMLS 73 C1867439

Summaries for Pterygium, Antecubital

NIH Rare Diseases : 53 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.

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

OMIM : 57 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:

# Related Disease Score Top Affiliating Genes
1 nail-patella syndrome 10.2
2 cleft lip 10.0
3 cleft lip/palate 10.0

Symptoms & Phenotypes for Pterygium, Antecubital

Symptoms via clinical synopsis from OMIM:

57
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
# 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:

# Genetic test Affiliating Genes
1 Antecubital Pterygium 29

Anatomical Context for Pterygium, Antecubital

MalaCards organs/tissues related to Pterygium, Antecubital:

41
Skin

Publications for Pterygium, Antecubital

Articles related to Pterygium, Antecubital:

# Title Authors Year
1
Treatment of antecubital pterygium in the nail-patella syndrome. ( 9481653 )
1998
2
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. ( 2012138 )
1991
3
Somatic and germ-line mosaicism in autosomal dominant antecubital pterygium. ( 2311269 )
1990
4
Autosomal dominant antecubital pterygium: syndromic status substantiated. ( 3409540 )
1988

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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