Bangstad syndrome
Synonyms: Ataxia-diabetes-goiter-gonadal insufficiency syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bangstad syndrome | Ataxia-diabetes-goiter-gonadal insufficiency syndrome |
| fr | Syndrome de Bangstad | Syndrome d'ataxie-diabète-goitre-insuffisance gonadique |
| de | Bangstad-Syndrom | Ataxie - Diabetes - Gicht - gonadale Insuffizienz |
| es | Síndrome de Bangstad | |
| it | Sindrome di Bangstad | Atassia - diabete - gozzo - insufficienza gonadica |
| nl | Syndroom van Bangstad | Ataxie - diabetes - struma - gonadale insufficiëntie-syndroom |
| pt | Síndrome Bangstad | |
| pl | Zespół Bangstad | Ataksja - cukrzyca - wole - niedoczynność gonad |
| cs | Bangstadův syndrom | Syndrom zahrnující ataxii, diabetes, strumu a gonadální insuficienci |
| uk | Синдром Бангстада | Синдром атаксії-діабету-зобу-гонадної недостатності |
| zh | Bangstad综合征 | 共济失调-糖尿病-甲状腺肿-性腺功能不全综合征 |
| tr | Bangstad sendromu | Ataksi-diyabet-guatr-gonadal yetmezlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210740 | E | validated | |
| ICD-10 | E31.8 | NTBT | attributed | validated |
| ICD-11 | 5B0Y | NTBT | attributed | validated |
| MONDO | 0008874 | E | validated | |
| MeSH | C537902 | E | validated | |
| UMLS | C0342284 | E | validated | |
| GARD | 812 | 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 (2):
- ORPHA:183643Genetic polyendocrinopathy
rare genetic diseases - ORPHA:101956Polyendocrinopathy
rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 2662702[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2662702[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000035 | Abnormal testis morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000828 | Abnormality of the parathyroid gland | |
| HP:0001251 | Ataxia | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000490 | Deeply set eye | |
| HP:0004097 | Deviation of finger | |
| HP:0002353 | EEG abnormality | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0000821 | Hypothyroidism | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000275 | Narrow face | |
| HP:0000147 | Polycystic ovaries | |
| HP:0008193 | Primary gonadal insufficiency | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000340 | Sloping forehead | |
| HP:0100651 | Type I diabetes mellitus | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1227
- This record as JSON: /data/d/1227.json