Details of Disease

General Information of Disease (ID: DISA2P6G)

• Disease Name: Neonatal diabetes mellitus with congenital hypothyroidism
• Synonyms: Ndh syndrome; NDH; diabetes mellitus, neonatal, with congenital hypothyroidism; neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome; NDH syndrome; neonatal diabetes mellitus with congenital hypothyroidism
• Definition: A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others
• Disease Hierarchy:
  DISFHF9K: Neonatal diabetes mellitus
  DISA2P6G: Neonatal diabetes mellitus with congenital hypothyroidism
• Disease Identifiers:
  MONDO ID: MONDO_0012436
  MESH ID: C565705
  UMLS CUI: C1857775
  OMIM ID: 610199
  MedGen ID: 347541
  Orphanet ID: 79118

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL2RA	TT10Y9E	Strong	Autosomal recessive	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL2RA	OT0MWCHG	Strong	Autosomal recessive	[1]
GLIS3	OTBC960E	Definitive	Autosomal recessive	[2]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?. Am J Med Genet A. 2003 Oct 15;122A(3):269-73. doi: 10.1002/ajmg.a.20267.