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Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
1 OMIM reference -
1 associated gene
54 connected diseases
No signs/symptoms info
Disease Type of connection
Young adult-onset Parkinsonism
Giant cell glioblastoma
Gliosarcoma
Familial pancreatic carcinoma
Precursor B-cell acute lymphoblastic leukemia
Dedifferentiated liposarcoma
Familial melanoma
Well-differentiated liposarcoma
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
Adrenocortical carcinoma
Autosomal dominant hypohidrotic ectodermal dysplasia
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Li-Fraumeni syndrome
Papilloma of choroid plexus
Glycogen storage disease due to LAMP-2 deficiency
Pachyonychia congenita
Sebocystomatosis
White sponge nevus
Leber congenital amaurosis
Senior-Loken syndrome
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive primary microcephaly
Chuvash erythrocytosis
Cowden syndrome
Craniopharyngioma
Desmoid tumor
Dyskeratosis congenita
Early-onset autosomal dominant Alzheimer disease
Hepatocellular carcinoma, childhood-onset
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
Herpetic encephalitis
Hoyeraal-Hreidarsson syndrome
Lissencephaly due to TUBA1A mutation
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Pilomatrixoma
Precursor T-cell acute lymphoblastic leukemia
Proteus syndrome
Retinopathy - anemia- central nervous system anomalies
Von Hippel-Lindau disease
Benign adult familial myoclonic epilepsy
Intermittent hydrarthrosis
TRAPS syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
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
UCHL1 P09936191342
No signs/symptoms info available.