ORPHA:329249
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | |
| fr | Obésité sévère précoce avec résistance à l'insuline par déficit en SH2B1 | |
| de | Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel | |
| es | Síndrome grave de resistencia a insulina-obesidad por deficiencia de SH2B1 de inicio precoz | |
| it | Sindrome da obesità grave ad esordio precoce e insulino-resistenza da deficit di SH2B1 | |
| nl | Ernstig obesitas-insulineresistentiesyndroom door SH2B1-deficiëntie met vroege aanvang | |
| pt | Síndrome de obesidade-resistência à insulina grave de início precoce por deficiência de SH2B1 | |
| pl | Zespół ciężka otyłość o wczesnym początku z insulinoopornością spowodowany niedoborem SH2B1 | |
| cs | Syndrom zahrnující těžkou obezitu s časným začátkem a inzulinovou rezistenci, způsobený SH2B1 deficitem | |
| uk | Тяжкий синдром раннього ожиріння та інсулінорезистентності, зумовлений дефіцитом SH2B1 | |
| zh | SH2B1基因缺陷引起的严重早发性肥胖-胰岛素抵抗综合征 | |
| tr | SH2B1 eksikliğine bağlı ağır erken başlangıçlı obezite-insülin direnci sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E66.8 | NTBT | attributed | validated |
| ICD-11 | 5B81.Y | NTBT | attributed | validated |
| MONDO | 0017994 | E | validated | |
| UMLS | C5190989 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98267Genetic non-syndromic obesity
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SH2B1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30417 | ENSG00000178188 | 608937 | 16p11.2 | SH2B adaptor protein 1 | 23160192[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 23160192[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23160192[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
11 annotations · validated 2016-04-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000842 | Hyperinsulinemia | |
| HP:0001513 | Obesity | |
| HP:0002591 | Polyphagia | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000750 | Delayed speech and language development | |
| HP:0008763 | No social interaction | |
| Excluded (0%) | ||
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0003074 | Hyperglycemia | |
| HP:0003077 | Hyperlipidemia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20808231[PMID]_24971614[PMID]_23160192[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329249
- This record as JSON: /data/d/329249.json