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1 OMIM reference -
11 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
18 signs/symptoms
Idiopathic pulmonary fibrosis
Epidermolysis bullosa simplex, 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
Epidermolysis bullosa simplex, Dowling-Meara type
KRT14 KRT5



Idiopathic pulmonary fibrosis
Epidermolysis bullosa simplex, Dowling-Meara type

Synonym(s):
- UIP
- Usual interstitial pneumonia

Synonym(s):
- Epidermolysis bullosa simplex, herpetiformis

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D054990
External references:
1 OMIM reference -
No MeSH references

Epidermolysis bullosa simplex, Dowling-Meara type

Very frequent
- Abnormal fingernails
- Anomalies of skin, subcutaneous tissue and mucosae
- Autosomal dominant inheritance
- Mucosal / cutaneous hemorrhage
- Nails anomalies
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Abnormal scarring / cheloids / hypertrophic scars
- Constipation
- Early death / lethality
- Enanthema / aphtosa / aphta / leukoplakia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Skin hypoplasia / aplasia / atrophy
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)


Idiopathic pulmonary fibrosis

(no data available)