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Cerebellar ataxia - hypogonadism
2 OMIM references -
3 associated genes
146 connected diseases
18 signs/symptoms
Disease Type of connection
Ataxia - hypogonadism - choroidal dystrophy
Autosomal recessive spastic paraplegia type 39
Young adult-onset Parkinsonism
Amyotrophic lateral sclerosis
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Familial pancreatic carcinoma
Herpetic encephalitis
Chronic myeloid leukemia
Giant cell glioblastoma
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Familial isolated dilated cardiomyopathy
B-cell chronic lymphocytic leukemia
Cowden syndrome
Proteus syndrome
Lafora disease
Dyskeratosis congenita
Hereditary breast and ovarian cancer syndrome
Hoyeraal-Hreidarsson syndrome
Behçet disease
Waardenburg syndrome type 2
Classical progressive supranuclear palsy
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Muscular dystrophy, Selcen type
Adrenocortical carcinoma
Autosomal dominant hypohidrotic ectodermal dysplasia
Essential thrombocythemia
LEOPARD syndrome
Li-Fraumeni syndrome
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Noonan syndrome
Papilloma of choroid plexus
Pilocytic astrocytoma
Estrogen resistance syndrome
Adult-onset distal myopathy due to VCP mutation
Cerebellar ataxia, Cayman type
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Spastic paraplegia - Paget disease of bone
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Parkinsonian-pyramidal syndrome
Spinocerebellar ataxia type 1
Glucocorticoid resistance
Autosomal dominant limb-girdle muscular dystrophy type 1D
Cleidocranial dysplasia
Glycogen storage disease due to liver phosphorylase kinase deficiency
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Bannayan-Riley-Ruvalcaba syndrome
Burkitt lymphoma
Familial melanoma
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Idiopathic aplastic anemia
Idiopathic pulmonary fibrosis
Isolated delta-storage pool disease
Juvenile polyposis of infancy
Laron syndrome
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Myhre syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Short stature due to partial GHR deficiency
Squamous cell carcinoma of head and neck
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Alveolar rhabdomyosarcoma
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Anaplastic ependymoma
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal dominant secondary polycythemia
Autosomal dominant spastic paraplegia type 13
Bardet-Biedl syndrome
CLN4B disease
Cabezas syndrome
Chuvash erythrocytosis
Clear cell renal carcinoma
Early-onset autosomal dominant Alzheimer disease
Familial isolated hyperparathyroidism
Familial papillary renal cell carcinoma
Familial parathyroid adenoma
Familial prostate cancer
Familial short QT syndrome
Gitelman syndrome
Hepatocellular carcinoma, childhood-onset
Hereditary breast cancer
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hereditary site-specific ovarian cancer syndrome
Left ventricular noncompaction
MALT lymphoma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
McKusick-Kaufman syndrome
Multiple endocrine neoplasia type 1
Multiple paragangliomas associated with polycythemia
Nephrogenic diabetes insipidus
Nephrogenic syndrome of inappropriate antidiuresis
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Persistent polyclonal B-cell lymphocytosis
Peutz-Jeghers syndrome
Primary peritoneal carcinoma
Pseudohyperaldosteronism type 2
Renal pseudohypoaldosteronism type 1
Retinopathy - anemia- central nervous system anomalies
Romano-Ward syndrome
Severe combined immunodeficiency due to CARD11 deficiency
Split hand-split foot malformation
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Systemic-onset juvenile idiopathic arthritis
Tietz syndrome
Uveal coloboma - cleft lip and palate - intellectual deficit
Von Hippel-Lindau disease
X-linked Emery-Dreifuss muscular dystrophy
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Zollinger-Ellison syndrome
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
X-linked distal arthrogryposis multiplex congenita
X-linked lymphoproliferative disease
Distal 22q11.2 microdeletion syndrome
Craniolenticulosutural dysplasia
- Luteinizing hormone-releasing hormone deficiency with ataxia

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
PNPLA6 Q8IY17603197
RNF216 Q9NWF9609948
STUB1 Q9UNE7607207
Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Ataxia / incoordination / trouble of the equilibrium
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Late puberty / hypogonadism / hypogenitalism
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinitis pigmentosa / retinal pigmentary changes
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Sterility / hypofertility

- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypotonia

- Brachycephaly / flat occiput
- Clinodactyly of fifth finger
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Short stature / dwarfism / nanism
- Supernumerary nipples / polythelia