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
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ICD-10: |
G11.8 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0000044) | Hypogonadotrophic hypogonadism | 56 / 7739 | ||||
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(HPO:0001135) | Chorioretinal dystrophy | 18 / 7739 | ||||
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(HPO:0000529) | Progressive visual loss | 54 / 7739 | ||||
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(HPO:0000556) | Retinal dystrophy | 65 / 7739 | ||||
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(HPO:0007712) | Choroidal dystrophy | 1 / 7739 | ||||
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(HPO:0000613) | Photophobia | 158 / 7739 | ||||
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0002127) | Abnormal upper motor neuron morphology | rare [HPO:skoehler] | 15 / 7739 | |||
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(HPO:0001284) | Areflexia | 198 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0002080) | Intention tremor | 44 / 7739 | ||||
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(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
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(HPO:0002168) | Scanning speech | 10 / 7739 | ||||
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(HPO:0001257) | Spasticity | rare [HPO:skoehler] | 251 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
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(HPO:0003676) | Progressive disorder | 148 / 7739 | ||||
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(HPO:0007263) | Spinocerebellar atrophy | 3 / 7739 | ||||
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(OMIM) | Delay in secondary sexual characteristics | 1 / 7739 | ||||
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(HPO:0003621) | Juvenile onset | 105 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Hypothalamic dysfunction | 4 / 7739 | ||||
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(OMIM) | Decreased plasma gonadotrophin | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |