Cytoscape Web
Click node...


1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
11 signs/symptoms
Severe combined immunodeficiency due to LCK deficiency
Cutaneous mastocytoma

LCK KIT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LCK
(0.88)
KIT



Citations in the biomedical literature:


Severe combined immunodeficiency due to LCK deficiency
LCK
Cutaneous mastocytoma
KIT



Severe combined immunodeficiency due to LCK deficiency
Cutaneous mastocytoma

Synonym(s):
- SCID due to LCK deficiency
- SCID due to lymphocyte-specific protein tyrosine kinase deficiency
- Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency

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

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: sporadic

External references:
No 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


Severe combined immunodeficiency due to LCK deficiency

(no data available)