Version: 8.0.0
Date: Tue Jan 28 2025
8 results
Disease Genes: cryaa (Dre)

neurodegenerative disease

Disease
Source: DOID:1289
Definition: A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
Genes: cryaa (Dre)

cataract

Disease
Source: DOID:83
Definition: A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
Genes: cryaa (Dre)

galactosemia

Disease
Source: DOID:9870
Definition: A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
Genes: cryaa (Dre)

ocular hypertension

Disease
Source: DOID:9282
Definition: An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.
Genes: cryaa (Dre)

Charcot-Marie-Tooth disease axonal type 2L

Disease
Source: DOID:0110174
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.
Genes: cryaa (Dre)

cataract 9 multiple types

Disease
Source: DOID:0110266
Definition: A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.
Genes: cryaa (Dre)

autosomal dominant distal hereditary motor neuronopathy 2

Disease
Source: DOID:0111206
Definition: An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life.
Genes: cryaa (Dre)

myofibrillar myopathy 2

Disease
Source: DOID:0080093
Definition: A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
Genes: cryaa (Dre)