Obesity due to prohormone convertase I deficiency
Synonyms: PCI deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Obesity due to prohormone convertase I deficiency | PCI deficiency |
| fr | Obésité par déficit en prohormone convertase I | |
| de | Adipositas durch Prohormon-Konvertase I-Mangel | PCI-Mangel |
| es | Obesidad por deficiencia de prohormona convertasa-I | |
| it | Obesità da deficit di pro-ormone convertasi 1 | Deficit di PCI |
| nl | Obesitas door deficiëntie van prohormoonconvertase I | PCI-deficiëntie |
| pt | Obesidade por deficiência de pro-hormona convertase-I | Deficiência de PCI |
| pl | Otyłość spowodowana niedoborem konwertazy I prohormonu | Niedobór PCI |
| cs | Obezita způsobená deficitem prohormon konvertázy I | Deficit PCI |
| uk | Ожиріння через дефіцит прогормону конвертази I | Дефіцит PCI |
| zh | 激酶原转化酶1缺乏所致肥胖症 | PCI缺乏 |
| tr | Prohormon konvertaz I eksikliğine bağlı obezite | PCI eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600955 | E | validated | |
| ICD-10 | E66.8 | NTBT | attributed | validated |
| ICD-11 | 5B81.Y | NTBT | index | validated |
| MONDO | 0010961 | E | validated | |
| UMLS | C4302878 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:181390Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:179490Obesity due to congenital leptin resistance
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PCSK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8743 | ENSG00000175426 | 162150 | 5q15 | proprotein convertase subtilisin/kexin type 1 | 9207799[PMID]_17595246[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 23562752[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2017-03-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0009126 | Increased adipose tissue | |
| HP:0001513 | Obesity | |
| Very frequent (99-80%) | ||
| HP:0002591 | Polyphagia | |
| Frequent (79-30%) | ||
| HP:0011734 | Central adrenal insufficiency | |
| HP:0008915 | Childhood-onset truncal obesity | |
| HP:0001396 | Cholestasis | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0002297 | Red hair | |
| Occasional (29-5%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001508 | Failure to thrive | |
| HP:0008213 | Gonadotropin deficiency | |
| HP:0001510 | Growth delay | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0002173 | Hypoglycemic seizures | |
| HP:0008245 | Pituitary hypothyroidism | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 27468060[PMID]_16936203[PMID]_14557433[PMID]_9620771[PMID]_9771698[PMID]_15703762[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71528
- This record as JSON: /data/d/71528.json