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Craniopharyngioma

2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Hypotrichosis with juvenile macular degeneration

1 OMIM reference -
1 associated gene
16 signs/symptoms

Craniopharyngioma

Hypotrichosis with juvenile macular degeneration

BRAF	(UniProt - OMIM)		CDH3	(UniProt - OMIM)
CTNNB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTNNB1	(0.86)	CDH3

Citations in the biomedical literature:

Craniopharyngioma		Hypotrichosis with juvenile macular degeneration
	Synonym(s): (no synonyms)		Synonym(s): - HJMD - Hypotrichosis with juvenile macular dystrophy

	Classification (Orphanet): - Rare endocrine disease - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: No OMIM references 1 MeSH reference: D003397		External references: 1 OMIM reference - No MeSH references

Hypotrichosis with juvenile macular degeneration
	Very frequent - Autosomal recessive inheritance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Macular dystrophy / absence / hypoplasia of the macula - Macular pigmentary anomaly / cherry-red spot - Short stature / dwarfism / nanism - Visual loss / blindness / amblyopia Frequent - Brittle hair / distrix / trichorrhexis - Fine hair - Pili torti Occasional - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excessive freckling - Global upper and lower limbs anomalies - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nystagmus - Pigmented naevi / naevus pigmentosus / lentigo - Severe allergic reaction / atopy
Craniopharyngioma
(no data available)