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Spinocerebellar ataxia type 12
1 OMIM reference -
1 associated gene
86 connected diseases
No signs/symptoms info
Disease Type of connection
Epidermolytic palmoplantar keratoderma
Keratosis palmoplantaris striata
Pachyonychia congenita
Annular epidermolytic ichthyosis
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolytic ichthyosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Lethal acantholytic epidermolysis bullosa
Localized epidermolysis bullosa simplex
Li-Fraumeni syndrome
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Precursor T-cell acute lymphoblastic leukemia
Hereditary chronic pancreatitis
Propionic acidemia
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Osteosarcoma
Combined oxidative phosphorylation defect type 4
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Autosomal recessive epidermolysis bullosa simplex
Baller-Gerold syndrome
Congenital reticular ichthyosiform erythroderma
Dermatopathia pigmentosa reticularis
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Ichthyosis hystrix of Curth-Macklin
Idiopathic pulmonary fibrosis
Methylmalonic acidemia with homocystinuria, type cblX
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Naegeli-Franceschetti-Jadassohn syndrome
Naxos disease
Pyruvate carboxylase deficiency, benign type
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
RAPADILINO syndrome
Rothmund-Thomson syndrome type 2
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Superficial epidermolytic ichthyosis
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
X-linked non-syndromic intellectual deficit
Amyotrophic lateral sclerosis
Blackfan-Diamond anemia
Chuvash erythrocytosis
Congenital bilateral absence of vas deferens
Cystic fibrosis
Diffuse palmoplantar keratoderma with painful fissures
Focal palmoplantar keratoderma with joint keratoses
Idiopathic bronchiectasis
LEOPARD syndrome
Male infertility with normal virilization due to meiosis defect
Noonan syndrome
Pilocytic astrocytoma
Pseudohypoaldosteronism type 2E
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Von Hippel-Lindau disease
17p13.3 microduplication syndrome
Autosomal dominant spastic paraplegia type 13
Baraitser-Winter syndrome
Catecholaminergic polymorphic ventricular tachycardia
Congenital analbuminemia
Developmental malformations - deafness - dystonia
Distal 17p13.3 microdeletion syndrome
Distal myopathy with vocal cord weakness
Hypotrichosis simplex
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Miller-Dieker syndrome
Monilethrix
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Pulverulent cataract
Pure hair and nail ectodermal dysplasia
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Synonym(s):
- SCA12
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PPP2R2B Q00005604325
No signs/symptoms info available.