U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Permanent neonatal diabetes mellitus

Permanent neonatal diabetes mellitus

Synonyms
ABCC8-Related Permanent Neonatal Diabetes Mellitus; INS-Related Permanent Neonatal Diabetes Mellitus; KCNJ11-Related Permanent Neonatal Diabetes Mellitus; PDX1-Related Permanent Neonatal Diabetes Mellitus; Permanent diabetes mellitus of infancy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Permanent Neonatal Diabetes Mellitus
Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis include intrauterine growth restriction, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Therapy with insulin corrects the hyperglycemia and results in dramatic catch-up growth. The course of PNDM varies by genotype.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Diva D De León
Charles A Stanley
view full author information

Available tests

70 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (70 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC36, HHF1, HI, HRINS, MRP8, PHHI, PNDM3, SUR, SUR1, SUR1delta2, TNDM2, ABCC8
    Summary: ATP binding cassette subfamily C member 8

  • Also known as: FGQTL3, GK, GLK, HHF3, HK4, HKIV, HXKP, LGLK, MODY2, PNDM1, GCK
    Summary: glucokinase

  • Also known as: IDDM, IDDM1, IDDM2, ILPR, IRDN, MODY10, PNDM4, INS
    Summary: insulin

  • Also known as: BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI, PNDM2, TNDM3, KCNJ11
    Summary: potassium inwardly rectifying channel subfamily J member 11

  • Also known as: GSF, IDX-1, IPF1, IUF1, MODY4, PAGEN1, PDX-1, STF-1, PDX1
    Summary: pancreatic and duodenal homeobox 1

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.