ODCs

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2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
7 signs/symptoms

Autosomal recessive lymphoproliferative disease

Isolated trigonocephaly

CD27	(UniProt - OMIM)		FGFR1	(UniProt - OMIM)
ITK	(UniProt - OMIM)		FREM1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ITK	(0.49)	FGFR1

Citations in the biomedical literature:

Autosomal recessive lymphoproliferative disease		Isolated trigonocephaly
	Synonym(s): (no synonyms)		Synonym(s): - Non-syndromic metopic craniosynostosis

	Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references

Isolated trigonocephaly
	Very frequent - Autosomal dominant inheritance - Trigonocephaly Frequent - Broad nasal root - Hypotelorism - Prominent supraorbital ridge - Synophris / synophrys Occasional - Omphalocele / exomphalos
Autosomal recessive lymphoproliferative disease
(no data available)