Details of Disease | DrugMAP

General Information of Disease (ID: DISYGT3D)

Disease Name	Polyendocrine-polyneuropathy syndrome
Synonyms	PEPNS; polyendocrine-polyneuropathy syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISEV092: Congenital hypogonadotropic hypogonadism DISYGT3D: Polyendocrine-polyneuropathy syndrome
Disease Identifiers	MONDO ID MONDO_0014497 UMLS CUI C4015261 OMIM ID 616113 MedGen ID 863698 Orphanet ID 453533 SNOMED CT ID 1260449002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DMXL2	OTB4JWN3	Supportive	Autosomal recessive	[1]
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References

1	Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse. PLoS Biol. 2014 Sep 23;12(9):e1001952. doi: 10.1371/journal.pbio.1001952. eCollection 2014 Sep.