PROPROTEIN CONVERTASE 1/3 DEFICIENCY

Question 1

What is  PROPROTEIN CONVERTASE 1/3 DEFICIENCY?

Accepted Answer

very rare
autosomal recessive
mutation in the PC1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Adipositas durch Prohormon-Konvertase I-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 600955

Question 4

Which enzymes are involved?

Accepted Answer

Neuroendocrine convertase 1

Disease	PROPROTEIN CONVERTASE 1/3 DEFICIENCY
Synonym	OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES
OMIM	600955 OMIM = Online Mendelian Inheritance of Men
Orphanet	71528
Protein (UniProt)	Neuroendocrine convertase 1
ExPASy	---
Gene locus	5q15
ICD	E66.8
Summary	very rare autosomal recessive mutation in the PC1 gene
Laboratory findings	Cortisol dec (serum) D-Glucose dec (plasma) Insulin dec (plasma) Progastrin inc (plasma) Proglucagon inc (plasma) Proinsulin inc (plasma)
Symptoms	amenorrhea diarrhea hyperphagia hypoglycemia hypogonadism malabsorption obesity onset, neonatal