Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypoinsulinemic hypoglycemia and body hemihypertrophy | |
| fr | Hypoglycémie hypoinsulinémique avec hémihypertrophie du corps | |
| de | Hypoinsulinämische Hypoglykämie - Hemihypertrophie | |
| es | Hipoglucemia hipoinsulinémica y hemihipertrofia corporal | |
| it | Ipoglicemia ipoinsulinemica ed emi-ipertrofia del corpo | |
| nl | Hypo-insulinemische hypoglycemie en hemihypertrofie van lichaam | |
| pt | Hipoglicemia hipoinsulinémica e hemihipertrofia corporal | |
| pl | Hipoglikemia hipoinsulinemiczna i połowiczy przerost ciała | |
| cs | Hypoinzulinemická hypoglykémie a hemihypertrofie těla | |
| uk | Гіпоінсулінемічна гіпоглікемія та гемігіпертрофія тіла | |
| zh | 低胰岛素型低血糖和偏身肥大 | |
| tr | Hipoinsülinemik hipoglisemi ve vücut hemihipertrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 240900 | E | validated | |
| ICD-10 | E16.8 | NTBT | attributed | validated |
| ICD-11 | 5A4Y | NTBT | attributed | validated |
| MONDO | 0009416 | E | validated | |
| UMLS | C4751124 | 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 (3):
- ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:97978Rare endocrine disease
rare endocrine diseases - ORPHA:156638Rare genetic endocrine disease
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AKT2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:392 | ENSG00000105221 | 164731 | 19q13.2 | AKT serine/threonine kinase 2 | 21979934[PMID]_24285683[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 14764948[PMID]_21979934[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
14 annotations · validated 2017-04-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001528 | Hemihypertrophy | |
| Very frequent (99-80%) | ||
| HP:0040214 | Abnormal circulating insulin concentration | |
| HP:0030812 | Enlarged tonsils | |
| HP:0000771 | Gynecomastia | |
| HP:0001325 | Hypoglycemic coma | |
| HP:0002173 | Hypoglycemic seizures | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0006568 | Increased hepatic glycogen content | |
| HP:0001520 | Large for gestational age | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0001958 | Nonketotic hypoglycemia | |
| HP:0001956 | Truncal obesity | |
| Excluded (0%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0030781 | Increased circulating free fatty acid level | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21979934[PMID]_13952653[PMID]_14764948[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293964
- This record as JSON: /data/d/293964.json