ORPHA:99704
Early-onset obesity-hyperphagia-severe developmental delay syndrome
Synonyms: OBHD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare syndromic obesity characterized by early-onset severe obesity, hyperphagia and global developmental delay with specific impairment of short term memory and language delay. Patients may represent moderate intellectual disability, stereotyped behaviors, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset obesity-hyperphagia-severe developmental delay syndrome | OBHD |
| fr | Syndrome d'obésité précoce-hyperphagie-retard du développement sévère | = en |
| de | Syndrom der früh einsetzenden Adipositas mit Hyperphagie und schwerer Entwicklungsverzögerung | = en |
| es | Síndrome de obesidad-hiperfagia-retraso del desarrollo grave de inicio precoz | |
| it | Sindrome da obesità a esordio precoce - iperfagia - grave ritardo dello sviluppo | = en |
| nl | Vroeg optredende obesitas - hyperfagie - ernstige ontwikkelingsachterstand-syndroom | = en |
| pt | Síndrome de obesidade-hiperfagia-atraso grave do desenvolvimento de início precoce | = en |
| pl | Otyłość, nadmierny apetyt i ciężkie opóźnienie rozwoju z powodu defektu genu TrkB | = en |
| cs | Obezita, hyperfagie a těžké vývojové opoždění s časným nástupem | = en |
| uk | Синдром раннього ожиріння-гіперфагії-тяжкої затримки розвитку | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613886 | E | validated | |
| ICD-10 | E66.8 | NTBT | attributed | validated |
| MONDO | 0850115 | E | validated | |
| UMLS | C3151303 | 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 (3):
- ORPHA:180772Rare disease with autism
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; 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 |
|---|---|---|---|---|---|---|---|---|
| NTRK2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8032 | ENSG00000148053 | 600456 | 9q21.33 | neurotrophic receptor tyrosine kinase 2 | 613886[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99704
- This record as JSON: /data/d/99704.json