Bangstad syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY
Ataxia - diabetes - goiter - gonadal insufficiency
Number of Symptoms 67
OrphanetNr: 1227
OMIM Id: 210740
ICD-10: E31.8
UMLs: C0342284
MeSH: C537902
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic polyendocrinopathy
 -Rare genetic disease
Polyendocrinopathy
 -Rare endocrine disease

Symptom Information: Sort by abundance 

1
 (HPO:0008675) Enlarged polycystic ovaries Very frequent [Orphanet] hallmark [HPO] 14 / 7739
2
 (HPO:0000135) Hypogonadism Very frequent [Orphanet] 89 / 7739
3
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
4
 (HPO:0000137) Abnormality of the ovary Very frequent [Orphanet] 41 / 7739
5
 (HPO:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
6
 (HPO:0000147) Polycystic ovaries Very frequent [Orphanet] 18 / 7739
7
 (HPO:0000138) Ovarian cyst Very frequent [Orphanet] hallmark [HPO] 25 / 7739
8
 (HPO:0000275) Narrow face 76 / 7739
9
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
10
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
11
 (HPO:0000706) Unerupted tooth Very frequent [Orphanet] 10 / 7739
12
 (HPO:0000331) Short chin 33 / 7739
13
 (HPO:0001090) Large eyes 20 / 7739
14
 (HPO:0000678) Dental crowding Very frequent [Orphanet] 65 / 7739
15
 (HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
16
 (HPO:0011079) Impacted tooth Very frequent [Orphanet] 3 / 7739
17
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
18
 (HPO:0000278) Retrognathia Very frequent [Orphanet] 100 / 7739
19
 (HPO:0000276) Long face 109 / 7739
20
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
21
 (HPO:0000347) Micrognathia Very frequent [Orphanet] 426 / 7739
22
 (HPO:0000308) Microretrognathia 78 / 7739
23
 (HPO:0002321) Vertigo Very frequent [Orphanet] 58 / 7739
24
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] hallmark [HPO] 327 / 7739
25
 (HPO:0002311) Incoordination Very frequent [Orphanet] 84 / 7739
26
 (HPO:0011097) Epileptic spasms Very frequent [Orphanet] 45 / 7739
27
 (HPO:0001249) Intellectual disability Very frequent [Orphanet] 1089 / 7739
28
 (HPO:0001270) Motor delay Very frequent [Orphanet] 322 / 7739
29
 (HPO:0002141) Gait imbalance Very frequent [Orphanet] 55 / 7739
30
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
31
 (HPO:0001328) Specific learning disability Very frequent [Orphanet] 114 / 7739
32
 (HPO:0002121) Absence seizures Very frequent [Orphanet] 62 / 7739
33
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
34
 (HPO:0011147) Typical absence seizures Very frequent [Orphanet] 33 / 7739
35
 (HPO:0002133) Status epilepticus Very frequent [Orphanet] 59 / 7739
36
 (HPO:0001263) Global developmental delay Very frequent [Orphanet] 853 / 7739
37
 (HPO:0002073) Progressive cerebellar ataxia 27 / 7739
38
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
39
 (HPO:0001251) Ataxia Very frequent [Orphanet] hallmark [HPO] 413 / 7739
40
 (HPO:0000853) Goiter 39 / 7739
41
 (HPO:0008221) Adrenal hyperplasia Very frequent [Orphanet] 24 / 7739
42
 (HPO:0001578) Hypercortisolism Very frequent [Orphanet] 17 / 7739
43
 (HPO:0000823) Delayed puberty Very frequent [Orphanet] 65 / 7739
44
 (HPO:0000821) Hypothyroidism Very frequent [Orphanet] 141 / 7739
45
 (HPO:0000828) Abnormality of the parathyroid gland Very frequent [Orphanet] 6 / 7739
46
 (HPO:0000842) Hyperinsulinemia Very frequent [Orphanet] 39 / 7739
47
 (HPO:0008193) Primary gonadal insufficiency 7 / 7739
48
 (HPO:0000831) Insulin-resistant diabetes mellitus 22 / 7739
49
 (HPO:0100651) Type I diabetes mellitus Very frequent [Orphanet] 44 / 7739
50
 (HPO:0010557) Overlapping fingers Very frequent [Orphanet] 9 / 7739
51
 (HPO:0009465) Ulnar deviation of finger 48 / 7739
52
 (HPO:0009467) Radial deviation of the 2nd finger Very frequent [Orphanet] 6 / 7739
53
 (HPO:0004097) Deviation of finger Very frequent [Orphanet] 13 / 7739
54
 (HPO:0001518) Small for gestational age 107 / 7739
55
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
56
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
57
 (HPO:0003510) Severe short stature Very frequent [Orphanet] 90 / 7739
58
 (HPO:0001876) Pancytopenia 89 / 7739
59
 (HPO:0000855) Insulin resistance 32 / 7739
60
 (HPO:0001322) Brain very small 2 / 7739
61
 (OMIM) Large 2 / 7739
62
 (HPO:0006872) Cerebral hypoplasia 7 / 7739
63
 (OMIM) Narrow 3 / 7739
64
 (OMIM) Small 3 / 7739
65
 (OMIM) Dwarfism, 'low birth weight' type 1 / 7739
66
 (OMIM) Receding 2 / 7739
67
 (OMIM) Elevated plasma TSH, PTH, LH, FSH, ACTH, glucagon, and insulin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bangstad et al. (1989) described 2 sibs, a 26-year-old male and his 16-year-old sister, born of nonconsanguineous Norwegian parents, who had primordial bird-headed dwarfism, progressive ataxia, goiter, primary gonadal insufficiency, and insulin-resistant diabetes mellitus. Plasma concentrations of TSH, ...