Details of Disease

General Information of Disease (ID: DIS2GLUH)

Disease Name Obesity due to prohormone convertase I deficiency
Synonyms proprotein convertase 1/3 deficiency; obesity and endocrinopathy due to impaired processing of prohormones; PCSK1 Deficiency; PCI deficiency; obesity with impaired prohormone processing
Definition
Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.
Disease Hierarchy
DISEV092: Congenital hypogonadotropic hypogonadism
DISVH4OT: Inherited obesity
DIS2GLUH: Obesity due to prohormone convertase I deficiency
Disease Identifiers
MONDO ID
MONDO_0010961
MESH ID
C563423
UMLS CUI
C1833053
OMIM ID
600955
MedGen ID
318777
Orphanet ID
71528

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PCSK1 TTED9LZ Strong Genetic Variation [1]
PCSK1 TTED9LZ Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PCSK1 OTPBRJ54 Definitive Autosomal recessive [2]
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References

1 A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.J Clin Endocrinol Metab. 2019 Apr 1;104(4):985-993. doi: 10.1210/jc.2018-01854.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.