Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

MedGen UID:: 832997
•Concept ID:: CN228418
•: Disease or Syndrome

Synonym:	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	PTRH2, YARS1

Monarch Initiative:	MONDO:0024189
OMIM® Phenotypic series:	PS616263

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNeurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
- CROGVNeurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
- CROGVNeurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
- Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
- Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

Recent clinical studies

Diagnosis

The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.

Mammi A, Geroldi A, Patrone S, Gotta F, Origone P, Gaudio A, La Barbera A, Sanguineri F, Ponti C, Iacomino M, Traverso M, Ferlazzo E, Schenone A, Pascarella A, Marsico O, Mandich P, Bellone E
J Peripher Nerv Syst 2024 Jun;29(2):279-285. Epub 2024 Jun 14 doi: 10.1111/jns.12636. PMID: 38874107

Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.

Parida P, Dubbudu A, Biswal SR, Sharawat IK, Panda PK
Brain Dev 2021 Feb;43(2):314-319. Epub 2020 Oct 20 doi: 10.1016/j.braindev.2020.09.009. PMID: 33092935

See all (2)

Therapy

Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.

Parida P, Dubbudu A, Biswal SR, Sharawat IK, Panda PK
Brain Dev 2021 Feb;43(2):314-319. Epub 2020 Oct 20 doi: 10.1016/j.braindev.2020.09.009. PMID: 33092935

See all (1)

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Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

Term Hierarchy

Recent clinical studies

Diagnosis

Therapy

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