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Juvenile glaucoma
6 OMIM references -
2 associated genes
53 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital glaucoma
Peters anomaly
Familial thoracic aortic aneurysm and aortic dissection
Congenital fiber-type disproportion myopathy
Baraitser-Winter syndrome
Osteogenesis imperfecta type 3
Acromicric dysplasia
Fibronectin glomerulopathy
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Weill-Marchesani syndrome
Glycogen storage disease due to aldolase A deficiency
Acroosteolysis dominant type
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Alagille syndrome due to a NOTCH2 point mutation
Autosomal agammaglobulinemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Common variable immunodeficiency
Congenital muscular dystrophy with integrin alpha-7 deficiency
Developmental malformations - deafness - dystonia
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, vascular type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Familial abdominal aortic aneurysm
Familial aortic dissection
Familial cerebral saccular aneurysm
Familial isolated dilated cardiomyopathy
Genetic hyperferritinemia without iron overload
Hemolytic anemia due to red cell pyruvate kinase deficiency
Hereditary hyperferritinemia with congenital cataracts
High bone mass osteogenesis imperfecta
Hirschsprung disease
Immunodeficiency due to an early component of complement deficiency
Intermittent hydrarthrosis
Left ventricular noncompaction
Loeys-Dietz syndrome type 1
Moyamoya disease
Multiple keratoacanthoma, Ferguson-Smith type
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 4
Pulverulent cataract
Recurrent infections associated with rare immunoglobulin isotypes deficiency
TRAPS syndrome
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
CYP1B1 Q16678601771
MYOC Q99972601652
No signs/symptoms info available.