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1 OMIM reference -
11 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
17 signs/symptoms
Idiopathic pulmonary fibrosis
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

ATP11A KRT14
DPP9 KRT5
DSP
FAM13A
MUC5B
OBFC1
SFTPA1
SFTPA2
SFTPC
TERC
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DSP
(0.58)
KRT5



Citations in the biomedical literature:


Idiopathic pulmonary fibrosis
ATP11A DPP9 DSP FAM13A MUC5B OBFC1
SFTPA1 SFTPA2 SFTPC TERC TERT
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
KRT14 KRT5



Idiopathic pulmonary fibrosis
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

Synonym(s):
- UIP
- Usual interstitial pneumonia

Synonym(s):
- Epidermolysis bullosa simplex, Koebner type
- Epidermolysis bullosa simplex, Köbner type
- Generalized EBS, non-Dowling-Meara type

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

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

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D054990
External references:
1 OMIM reference -
1 MeSH reference: C535961

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

Very frequent
- Autosomal recessive inheritance
- Enanthema / aphtosa / aphta / leukoplakia
- Mucosal / cutaneous hemorrhage
- Muscle weakness / flaccidity
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Enamel anomaly
- Follicular / erythematous / edematous papules / milium
- Hyperhidrosis / increased sweating
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Palmoplantar hyperkeratosis / keratoderma
- Ptosis
- Respiratory rhythm disorder

Occasional
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Myasthenia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Idiopathic pulmonary fibrosis

(no data available)