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Unverricht-Lundborg disease
3 OMIM references -
3 associated genes
31 connected diseases
No signs/symptoms info
Disease Type of connection
Action myoclonus - renal failure syndrome
Gaucher disease type 1
Chuvash erythrocytosis
Von Hippel-Lindau disease
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Autosomal recessive distal renal tubular acidosis with deafness
Berardinelli-Seip congenital lipodystrophy
Cornelia de Lange syndrome
Diffuse cutaneous systemic sclerosis
Familial isolated dilated cardiomyopathy
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Muscular dystrophy, Selcen type
Pseudohypoaldosteronism type 2E
CLN10 disease
Amyotrophic lateral sclerosis
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant spastic paraplegia type 13
Boomerang dysplasia
Extraskeletal myxoid chondrosarcoma
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Spondylocarpotarsal synostosis
Translocation renal cell carcinoma
- Progressive myoclonic epilepsy type 1

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
1 MeSH reference: D020194

Gene symbol UniProt reference OMIM reference
CSTB P04080601145
PRICKLE1 Q96MT3608500
SCARB2 Q14108602257
No signs/symptoms info available.