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Rare isolated myopia
3 OMIM references -
3 associated genes
45 connected diseases
No signs/symptoms info
Disease Type of connection
Fatal infantile cytochrome C oxidase deficiency
Leigh syndrome with cardiomyopathy
Early-onset autosomal dominant Alzheimer disease
Dysequilibrium syndrome
Donnai-Barrow syndrome
Homozygous familial hypercholesterolemia
Burkitt lymphoma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Precursor T-cell acute lymphoblastic leukemia
Acute necrotizing encephalopathy of childhood
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial acute necrotizing encephalopathy
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Inflammatory myofibroblastic tumor
LEOPARD syndrome
Li-Fraumeni syndrome
Noonan syndrome
Papilloma of choroid plexus
Pilocytic astrocytoma
Precursor B-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
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
Distal 22q11.2 microdeletion syndrome
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Hamel cerebro-palato-cardiac syndrome
Idiopathic aplastic anemia
Leukoencephalopathy - dystonia - motor neuropathy
Neuralgic amyotrophy
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Shwachman-Diamond syndrome
Translocation renal cell carcinoma
X-linked intellectual deficit, Golabi-Ito-Hall type
X-linked intellectual deficit, Porteous type
X-linked intellectual deficit, Sutherland-Haan type
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
LEPREL1 Q8IVL5610341
LRPAP1 P30533104225
SCO2 O43819604272
No signs/symptoms info available.