ODCs

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

PROTEIN INTERACTIONS: 1

1 associated gene
3 signs/symptoms

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

Pseudoxanthomatous diffuse cutaneous mastocytosis

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


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

Citations in the biomedical literature:

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia		Pseudoxanthomatous diffuse cutaneous mastocytosis
	Synonym(s): (no synonyms)		Synonym(s): - Infiltrative small vesicular DCM - Infiltrative small vesicular diffuse cutaneous mastocytosis - Pseudoxanthomatous DCM

	Classification (Orphanet): - Rare endocrine disease - 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: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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

Pseudoxanthomatous diffuse cutaneous mastocytosis
	Very frequent - Dermal / subcutaneous infiltration / induration - Mastocytosis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
(no data available)