Bangstad syndrome
http://purl.obolibrary.org/obo/MONDO_0008874
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. [ Orphanet:1227 ]
Term info
- Orphanet:1227 (OMIM:210740)
- UMLS:C0342284 (Orphanet:1227/e)
- OMIM:210740 (Orphanet:1227/e)
- SCTID:237614004 (MONDO:equivalentTo)
- MESH:C537902 (Orphanet:1227/e)
- GARD:0000812 (MONDO:equivalentTo)
- ICD9:759.89 (MONDO:relatedTo)
gard_rare, ordo_malformation_syndrome
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.
http://identifiers.org/mesh/C537902, http://purl.obolibrary.org/obo/Orphanet_1227, http://linkedlifedata.com/resource/umls/id/C0342284, http://identifiers.org/snomedct/237614004, https://omim.org/entry/210740
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, goiter and primary gonadal insufficiency
MONDO:0008874
https://rarediseases.info.nih.gov/diseases/812/bangstad-syndrome