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Parkinsonim due to ATP13A2 deficiency
1 OMIM reference -
1 associated gene
24 connected diseases
No signs/symptoms info
Disease Type of connection
Kufor-Rakeb syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Angelman syndrome
Caffey disease
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Dermatofibrosarcoma protuberans
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
High bone mass osteogenesis imperfecta
Oculocutaneous albinism type 2
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
WHIM syndrome
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Synonym(s):
- CLN12 disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATP13A2 Q9NQ11610513
No signs/symptoms info available.