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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
7 associated genes
No signs/symptoms info
Epidermolysis bullosa simplex, Ogna type
Heritable pulmonary arterial hypertension

PLEC ACVRL1
BMPR2
CAV1
CBLN2
KCNK3
SMAD9
TBX4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLEC
(0.63)
SMAD9



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



Epidermolysis bullosa simplex, Ogna type
Heritable pulmonary arterial hypertension

Synonym(s):
- EBS-O

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535962
External references:
No OMIM references
No MeSH references

Epidermolysis bullosa simplex, Ogna type

Very frequent
- Autosomal dominant inheritance
- Bruisability
- Ecchymoses
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Skin hypoplasia / aplasia / atrophy



Heritable pulmonary arterial hypertension

(no data available)