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Hamel cerebro-palato-cardiac syndrome

1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1

Congenital pulmonary alveolar proteinosis

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

Hamel cerebro-palato-cardiac syndrome

Congenital pulmonary alveolar proteinosis

PQBP1	(UniProt - OMIM)		ABCA3	(UniProt - OMIM)
			CSF2RA	(UniProt - OMIM)
			CSF2RB	(UniProt - OMIM)
			SFTPB	(UniProt - OMIM)
			SFTPC	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PQBP1	(0.56)	SFTPC

Citations in the biomedical literature:

Hamel cerebro-palato-cardiac syndrome		Congenital pulmonary alveolar proteinosis
	Synonym(s): (no synonyms)		Synonym(s): - Congenital PAP

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare respiratory disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the respiratory system -

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

	External references: No OMIM references No MeSH references		External references: 5 OMIM references - No MeSH references

Hamel cerebro-palato-cardiac syndrome
	Very frequent - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Death in infancy - External ear anomalies - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large / bulbous nose - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Short stature / dwarfism / nanism - X-linked recessive inheritance
Congenital pulmonary alveolar proteinosis
(no data available)