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1 OMIM reference -
11 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
19 signs/symptoms
Idiopathic pulmonary fibrosis
Epidermolysis bullosa simplex due to plakophilin deficiency

ATP11A PKP1
DPP9
DSP
FAM13A
MUC5B
OBFC1
SFTPA1
SFTPA2
SFTPC
TERC
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DSP
(0.79)
PKP1



Citations in the biomedical literature:


Idiopathic pulmonary fibrosis
ATP11A DPP9 DSP FAM13A MUC5B OBFC1
SFTPA1 SFTPA2 SFTPC TERC TERT
Epidermolysis bullosa simplex due to plakophilin deficiency
PKP1



Idiopathic pulmonary fibrosis
Epidermolysis bullosa simplex due to plakophilin deficiency

Synonym(s):
- UIP
- Usual interstitial pneumonia

Synonym(s):
- Ectodermal dysplasia - skin fragility syndrome
- McGrath syndrome

Classification (Orphanet):
- Rare respiratory disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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 recessive

External references:
1 OMIM reference -
1 MeSH reference: D054990
External references:
1 OMIM reference -
1 MeSH reference: C536183

Epidermolysis bullosa simplex due to plakophilin deficiency

Very frequent
- Alopecia
- Anomalies of eyelids, eyelashes and lacrimal system
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Eyebrows anomalies
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Blepharitis / eyelid inflammation
- Dry / squaly skin / exfoliation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fissured / scrotal tongue
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Malabsorption / chronic diarrhea / steatorrhea
- Pruritus / itching

Occasional
- Woolly / frizzy hair


Idiopathic pulmonary fibrosis

(no data available)