Obesity due to SIM1 deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Obesity due to SIM1 deficiency | |
| fr | Obésité par déficit en SIM1 | |
| de | Adipositas durch SIM1-Mangel | |
| es | Obesidad por deficiencia de SIM1 | |
| it | Obesità da deficit di SIM1 | |
| nl | Obesitas door SIM1-deficiëntie | |
| pt | Obesidade devida a défice de SIM1 | |
| pl | Otyłość spowodowana niedoborem SIM1 | |
| cs | Obezita způsobená deficitem SIM1 | |
| uk | Ожиріння через дефіцит SIM1 | |
| zh | SIM1基因缺陷所致肥胖 | |
| tr | SIM1 eksikliğine bağlı obezite |
Definition in:
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 | 0018244 | E | validated | |
| UMLS | C5191050 | 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:98267Genetic non-syndromic obesity
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SIM1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10882 | ENSG00000112246 | 603128 | 6q16.3 | SIM bHLH transcription factor 1 | 23778136[PMID]_23778139[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 23778136[PMID]_23778139[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.
HPO phenotypes
17 annotations · validated 2016-04-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0100543 | Cognitive impairment | |
| HP:0001263 | Global developmental delay | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0002615 | Hypotension | |
| HP:0100503 | Low levels of vitamin B1 | |
| HP:0001513 | Obesity | |
| HP:0002591 | Polyphagia | |
| HP:0005307 | Postural hypotension with compensatory tachycardia | |
| Frequent (79-30%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0002354 | Memory impairment | |
| Occasional (29-5%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0001952 | Glucose intolerance | |
| Excluded (0%) | ||
| HP:0011968 | Feeding difficulties | |
| HP:0001252 | Hypotonia | |
| HP:0012339 | Increased resting energy expenditure | |
| HP:0004322 | Short stature | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 10587584[PMID]_23778139[PMID]_23778136[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369873
- This record as JSON: /data/d/369873.json