Non-insulinoma pancreatogenous hypoglycemia syndrome
Synonyms: NIPHS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
A rare familial hyperinsulinism characterized by postprandial hyperinsulinemic hypoglycemia, negative 72-hour fasts, negative preoperative localization studies for insulinoma, and positive selective arterial calcium infusion tests. Histopathological analysis reveals diffuse islet hyperplasia with increased number and size of islet cells.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-insulinoma pancreatogenous hypoglycemia syndrome | NIPHS |
| fr | Syndrome d'hypoglycémie pancréatogène sans insulinome | Hypoglycémie d'origine pancréatique non liée à un insulinome · NIPHS |
| de | Non-Insulinoma pankreatogenes Hypoglykämie-Syndrom | = en |
| es | Síndrome de hipoglucemia pancreatógena no insulinoma | = en |
| it | Ipoglicemia iperinsulinemica persistente non-insulinoma a esordio nell'età adulta | NI-PHH |
| nl | Niet-insulinoom pancreatogeen hypoglycemisch syndroom | = en |
| pt | Síndrome de hipoglicemia pancreatogénica não insulinoma | |
| pl | Przetrwała hipoglikemia hiperinsulinowa nie związana z insulinomą o początku w wieku dorosłym | NI-PHH |
| cs | Neinzulinomová perzistentní hyperinzulinemická hypoglykémie začínající v dospělosti | NI-PHH |
| uk | Синдром панкреатогенної гіпоглікемії без інсуліноми | = en |
| zh | 非胰岛素瘤性胰源性低血糖综合征 | = en |
| tr | İnsülinoma dışı pankreatojen hipoglisemi sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E16.1 | NTBT | attributed | validated |
| ICD-11 | 5A4Y | NTBT | attributed | validated |
| MONDO | 0017189 | E | validated | |
| MONDO | 17189 | E | validated | |
| UMLS | C4274082 | 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 (1):
- ORPHA:276525Familial hyperinsulinism
rare genetic diseases; rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
21 annotations · validated 2016-02-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001259 | Coma | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0012378 | Fatigue | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000825 | Hyperinsulinemic hypoglycemia | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0004324 | Increased body weight | |
| HP:0001254 | Lethargy | |
| HP:0000980 | Pallor | |
| HP:0004510 | Pancreatic islet-cell hyperplasia | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0001649 | Tachycardia | |
| HP:0001337 | Tremor | |
| Frequent (79-30%) | ||
| HP:0000842 | Hyperinsulinemia | |
| HP:0012051 | Reactive hypoglycemia | |
| Occasional (29-5%) | ||
| HP:0000713 | Agitation | |
| HP:0002329 | Drowsiness | |
| HP:0002315 | Headache | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 2294697[PMID]_9724169[PMID]_11114627[PMID]_11387003[PMID]_17263973[PMID]_7235948[PMID]_10323384[PMID]_15581742[PMID]_18208578[PMID]_9435328[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276608
- This record as JSON: /data/d/276608.json