DIABETES MELLITUS, KETOSIS-PRONE (KPD)

Question 1

What is  DIABETES MELLITUS, KETOSIS-PRONE (KPD)?

Accepted Answer

very rare

autosomal recessive

autosomal dominant

mutation in PAX4

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 612227

Question 3

Which enzymes are involved?

Accepted Answer

Paired box protein Pax-4

Disease	DIABETES MELLITUS, KETOSIS-PRONE (KPD)
OMIM	612227 OMIM = Online Mendelian Inheritance of Men
Orphanet	552
Protein (UniProt)	Paired box protein Pax-4
ExPASy	---
Gene locus	7q32.1
ICD	E11.90
Summary	very rare autosomal recessive autosomal dominant mutation in PAX4
Laboratory findings	Ketone bodies (urine) inc (urine)
Symptoms	diabetes mellitus onset, adolescent onset, childhood pancreatic dysfunction, endocrine