Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Permanent neonatal diabetes mellitus

Permanent neonatal diabetes mellitus (PNDM) is defined as an diabetes mellitus that starts within the first six month of life. Antenatal growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive are commonly accompanying features. Several genes are involved in PNDM. Inheritance is autosomal dominant (KCNJ11 and INS), autosomal dominant or recessive (ABCC8), and autosomal recessive (GCK and PDX1).

Systematic

Neonatal diabetes mellitus
Leprechaunism
Mitchell-Riley syndrome
Neonatal diabetes mellitus with congenital hypothyroidism
Pancreatogenic diabetes
Permanent neonatal diabetes mellitus
ABCC8
Developmental delay, epilepsy, and neonatal diabetes
KCNJ11
GCK
INS
KCNJ11
Phosphoribosylpyrophosphate synthetase superactivity
PRPS1
Wolcott-Rallison syndrome
EIF2AK3
Rabson-Mendenhall syndrome
Renal cysts and diabetes (RCAD)
Transient neonatal diabetes mellitus 1
Transient neonatal diabetes mellitus 2
Transient neonatal diabetes mellitus 3
X-linked immunodysregulation, polyendocrinopathy, and enteropathy
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