SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2

Question 1

What is  SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2?

Accepted Answer

rare
autosomal dominant
mutation in the gene encoding surfactant protein C (SFTPC)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Interstitielle Lungenerkrankung durch SP-C-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610913

Question 4

Which enzymes are involved?

Accepted Answer

Pulmonary surfactant-associated protein C

Disease	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2
Synonym	INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN C DEFICIENCY
OMIM	610913 OMIM = Online Mendelian Inheritance of Men
Orphanet	440392
Protein (UniProt)	Pulmonary surfactant-associated protein C
Gene locus	8p21.3
ICD	J84.8
Summary	rare autosomal dominant mutation in the gene encoding surfactant protein C (SFTPC)
Laboratory findings
Symptoms	cyanosis failure to thrive onset, infancy onset, variable age poor weight gain respiratory distress tachypnea, hyperpnea, dyspnea, hyperventilation X-ray (chest, lung)