Obesity due to prohormone convertase I deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES
PCI deficiency
Number of Symptoms 16
OrphanetNr: 71528
OMIM Id: 600955
ICD-10: E66.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 16 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypogonadotropic hypogonadism associated with other endocrinopathies
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
Obesity due to congenital leptin resistance
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000786) Primary amenorrhea 61 / 7739
2
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
3
(HPO:0008220) Hypocortisolemia 6 / 7739
4
(HPO:0002014) Diarrhea 225 / 7739
5
(HPO:0011473) Villous atrophy 14 / 7739
6
(HPO:0002024) Malabsorption 142 / 7739
7
(HPO:0001513) Obesity 172 / 7739
8
(HPO:0012051) Reactive hypoglycemia 2 / 7739
9
(OMIM) Obesity, early-onset 1 / 7739
10
(OMIM) Increased plasma proglucagon 1 / 7739
11
(OMIM) Increased plasma proinsulin 1 / 7739
12
(HPO:0003812) Phenotypic variability 129 / 7739
13
(HPO:0003745) Sporadic 131 / 7739
14
(OMIM) Decreased or normal plasma insulin 1 / 7739
15
(OMIM) Increased plasma progastrin 1 / 7739
16
(OMIM) Impaired processing of proopiomelanocortin (POMC, 176830) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM O'Rahilly et al. (1995) reported a 43-year-old woman who was referred for the evaluation of symptoms suggestive of postprandial hypoglycemia. She had a history of severe childhood obesity, with weight of 36 kg at the age of 3 ...
Molecular genetics OMIM Jackson et al. (1997) studied the 43-year-old woman reported by O'Rahilly et al. (1995) and confirmed the suspicion of an abnormality of prohormone convertase-1 by identifying compound heterozygous mutations in the PC1 gene (162150.0001-162150.0002).

In an ...