Ataxia - hypogonadism - choroidal dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: BOUCHER-NEUHAUSER SYNDROME
Boucher-Neuhäuser syndrome
Number of Symptoms 26
OrphanetNr: 1180
OMIM Id: 215470
ICD-10: G11.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hereditary ataxia
 -Rare genetic disease
 -Rare neurologic disease
Syndrome with hypogonadotropic hypogonadism
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
2
(HPO:0001135) Chorioretinal dystrophy 18 / 7739
3
(HPO:0000529) Progressive visual loss 54 / 7739
4
(HPO:0000556) Retinal dystrophy 65 / 7739
5
(HPO:0007712) Choroidal dystrophy 1 / 7739
6
(HPO:0000613) Photophobia 158 / 7739
7
(HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
8
(HPO:0001251) Ataxia 413 / 7739
9
(HPO:0002127) Abnormal upper motor neuron morphology rare [HPO:skoehler] 15 / 7739
10
(HPO:0001284) Areflexia 198 / 7739
11
(HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
12
(HPO:0002080) Intention tremor 44 / 7739
13
(HPO:0001265) Hyporeflexia 208 / 7739
14
(HPO:0002168) Scanning speech 10 / 7739
15
(HPO:0001257) Spasticity rare [HPO:skoehler] 251 / 7739
16
(HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
17
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
18
(HPO:0003693) Distal amyotrophy 118 / 7739
19
(HPO:0003676) Progressive disorder 148 / 7739
20
(HPO:0007263) Spinocerebellar atrophy 3 / 7739
21
(OMIM) Delay in secondary sexual characteristics 1 / 7739
22
(HPO:0003621) Juvenile onset 105 / 7739
23
(HPO:0001272) Cerebellar atrophy 197 / 7739
24
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
(OMIM) Hypothalamic dysfunction 4 / 7739
26
(OMIM) Decreased plasma gonadotrophin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Limber et al. (1989) recognized the association of spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy as an autonomous single-gene disorder and called it Boucher-Neuhauser syndrome.

See also cerebellar ataxia and hypogonadotropic hypogonadism (212840).
Clinical Description OMIM Neuhauser and Opitz (1975) described a kindred in which 2 brothers and 2 sisters with second-cousin parents had cerebellar ataxia in association with hypogonadotropic hypogonadism. In 3 sibs the onset of cerebellar ataxia was between 12 and 20 ...