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5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 associated gene
11 signs/symptoms
Congenital pulmonary alveolar proteinosis
Cutaneous mastocytoma

ABCA3 KIT
CSF2RA
CSF2RB
SFTPB
SFTPC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CSF2RA
CSF2RB
(0.52)
(0.52)
KIT
KIT



Citations in the biomedical literature:


Congenital pulmonary alveolar proteinosis
ABCA3 CSF2RA CSF2RB SFTPB SFTPC
Cutaneous mastocytoma
KIT



Congenital pulmonary alveolar proteinosis
Cutaneous mastocytoma

Synonym(s):
- Congenital PAP

Synonym(s):
- Cutaneous local mastocytoma
- Multiple mastocytoma
- Solitary mastocytoma

Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin disease

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

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

External references:
5 OMIM references -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D054705

Cutaneous mastocytoma

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Macules
- Mastocytosis
- Pruritus / itching
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Urticaria
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Thick skin / pachydermia / orange skin

Occasional
- Acute abdominal pain / colic
- Facial pain / cephalalgia / migraine
- Hot flushes / sensation of cold


Congenital pulmonary alveolar proteinosis

(no data available)