GJA8 gene related symptoms and diseases

Alternate names

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1, del(1)(q21)

Description

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

Most common symptoms of 1Q21.1 MICRODELETION SYNDROME

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM ORPHANET

Alternate names

CATARACT 1, MULTIPLE TYPES; CTRCT1 Is also known as cataract 1, multiple types, with or without microcornea, czp1, czp, cae1, cataract, duffy-linked, cataract, zonular pulverulent, 1

Description

Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene.Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.

Most common symptoms of CATARACT 1, MULTIPLE TYPES; CTRCT1

• Cataract
• Microphthalmia
• Congenital cataract
• Microcornea
• Posterior subcapsular cataract

SOURCES: MESH OMIM

Alternate names

CATARACT 25; CTRCT25 Is also known as ccsso, cataract, central pouch-like, with sutural opacities, cataract, central saccular, with sutural opacities

Most common symptoms of CATARACT 25; CTRCT25

• Cataract
• Congenital cataract

SOURCES: ORPHANET OMIM MESH

Alternate names

TOTAL EARLY-ONSET CATARACT Is also known as cataract, congenital, x-linked, cataract, congenital total, with posterior sutural opacities in heterozygotes, cxn, cct, cataract 40 with or without microcornea

Most common symptoms of TOTAL EARLY-ONSET CATARACT

• Cataract
• Visual impairment
• Ventricular septal defect
• Microphthalmia
• Patent ductus arteriosus

SOURCES: OMIM ORPHANET

Description

Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.

Most common symptoms of CATARACT-MICROCORNEA SYNDROME

• Nystagmus
• Cataract
• Myopia
• Corneal opacity
• Iris coloboma

SOURCES: MESH ORPHANET

Description

Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized (summary by Elliott et al., 1985).

Most common symptoms of ISOLATED CONGENITAL SCLEROCORNEA

• Nystagmus
• Cataract
• Microphthalmia
• Glaucoma
• Esotropia

SOURCES: OMIM ORPHANET MESH

Alternate names

CATARACT 2, MULTIPLE TYPES; CTRCT2 Is also known as cataract 2, multiple types, with or without microcornea, ccl, cataract, coppock-like

Description

Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea.Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL.

Most common symptoms of CATARACT 2, MULTIPLE TYPES; CTRCT2

• Nystagmus
• Cataract
• Blindness
• Photophobia
• Congenital cataract

SOURCES: ORPHANET OMIM