Cerebellar ataxia - hypogonadism

General Information (adopted from Orphanet):

Synonyms, Signs: Luteinizing hormone-releasing hormone deficiency with ataxia
Number of Symptoms 29
OrphanetNr: 1173
OMIM Id: 212840
605672
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: All ages
[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:0000789) Infertility Very frequent [Orphanet] 74 / 7739
3
 (HPO:0000876) Oligomenorrhea rare [HPO:skoehler] 13 / 7739
4
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
5
 (HPO:0001135) Chorioretinal dystrophy 18 / 7739
6
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
7
 (HPO:0000512) Abnormal electroretinogram Very frequent [Orphanet] 61 / 7739
8
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
9
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
10
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
11
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
12
 (HPO:0001260) Dysarthria 329 / 7739
13
 (HPO:0001251) Ataxia 413 / 7739
14
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
15
 (HPO:0000726) Dementia 131 / 7739
16
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
17
 (HPO:0002558) Supernumerary nipple Occasional [Orphanet] 40 / 7739
18
 (HPO:0000771) Gynecomastia Very frequent [Orphanet] 53 / 7739
19
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
20
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Very frequent [Orphanet] 23 / 7739
21
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
22
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
23
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
24
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
25
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (HPO:0002059) Cerebral atrophy 171 / 7739
28
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
29
 (HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: