Bangstad syndrome

Summary

Bangstad syndrome (MONDO:0008874) is a disease. A subtype of polyendocrinopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 21

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		2	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

21 HPO clinical features (Orphanet curated; top 21 by frequency):

HPO ID	Term	Frequency
HP:0000035	Abnormal testis morphology	Very frequent (80-99%)
HP:0000147	Polycystic ovaries	Very frequent (80-99%)
HP:0000164	Abnormality of the dentition	Very frequent (80-99%)
HP:0000252	Microcephaly	Very frequent (80-99%)
HP:0000275	Narrow face	Very frequent (80-99%)
HP:0000340	Sloping forehead	Very frequent (80-99%)
HP:0000444	Convex nasal ridge	Very frequent (80-99%)
HP:0000490	Deeply set eye	Very frequent (80-99%)
HP:0000821	Hypothyroidism	Very frequent (80-99%)
HP:0000828	Abnormality of the parathyroid gland	Very frequent (80-99%)
HP:0000842	Hyperinsulinemia	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001250	Seizure	Very frequent (80-99%)
HP:0001251	Ataxia	Very frequent (80-99%)
HP:0001511	Intrauterine growth retardation	Very frequent (80-99%)
HP:0002353	EEG abnormality	Very frequent (80-99%)
HP:0003118	Increased circulating cortisol level	Very frequent (80-99%)
HP:0004097	Deviation of finger	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0008193	Primary gonadal insufficiency	Very frequent (80-99%)
HP:0100651	Type I diabetes mellitus	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Bangstad syndrome
Mondo ID	MONDO:0008874
MeSH	C537902
OMIM	210740
Orphanet	1227
SNOMED CT	237614004
UMLS	C0342284
MedGen	90978
GARD	0000812
Is cancer (heuristic)	no

Also known as: ataxia-diabetes-goiter-gonadal insufficiency syndrome · Bangstad syndrome · Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency · Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre and primary gonadal insufficiency

Disease family

Classification path: disease › human disease › disease by body system or component › endocrine system disorder › polyendocrinopathy › Bangstad syndrome

Related subtypes (6): retinohepatoendocrinologic syndrome, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, multiple polyglandular tumor, neuroectodermal-endocrine syndrome, autoimmune polyendocrinopathy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.