ODCs

Click node...

1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Cutaneous mastocytoma

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

KIT	(UniProt - OMIM)		BTK	(UniProt - OMIM)
			ELF4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIT	(0.52)	BTK

Citations in the biomedical literature:

Cutaneous mastocytoma		Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
	Synonym(s): - Cutaneous local mastocytoma - Multiple mastocytoma - Solitary mastocytoma		Synonym(s): (no synonyms)

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

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

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

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

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
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
(no data available)