Details of Disease

General Information of Disease (ID: DISHLPKQ)

• Disease Name: Congenital hereditary endothelial dystrophy of cornea
• Synonyms: congenital hereditary endothelial dystrophy type II; corneal endothelial dystrophy 2, autosomal recessive, formerly; corneal endothelial dystrophy type 2; CHED2, formerly; corneal endothelial dystrophy 2, autosomal recessive; corneal endothelial dystrophy 2; corneal endothelial dystrophy; congenital hereditary endothelial dystrophy of the cornea; corneal dystrophy, congenital hereditary endothelial; infantile hereditary endothelial dystrophy; autosomal recessive congenital hereditary endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; autosomal recessive CHED; CHED; CHED2; corneal endothelial dystrophy, autosomal recessive; CHEDII; congenital hereditary endothelial dystrophy type 2
• Definition: A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISR4JFO: Posterior corneal dystrophy
  DIS9BMO3: Corneal endothelial dystrophy
  DISHLPKQ: Congenital hereditary endothelial dystrophy of cornea
• Disease Identifiers:
  MONDO ID: MONDO_0009019
  MESH ID: C536439
  UMLS CUI: C1857569
  OMIM ID: 217700
  MedGen ID: 387857
  Orphanet ID: 293603
  SNOMED CT ID: 417395001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDK13	TTRIM0E	Strong	Genetic Variation	[1]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A11	DTH2J1G	Strong	Autosomal recessive	[2]
SLC4A11	DTH2J1G	Definitive	Genetic Variation	[3]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL4A3	OT6SB8X5	moderate	Altered Expression	[4]
MPDZ	OT9WY1QM	moderate	Genetic Variation	[5]
COL8A2	OTASWJ69	Strong	Genetic Variation	[6]
OVOL2	OTFM1GKF	Strong	Genetic Variation	[7]
SLC4A11	OTMMNQ2E	Strong	Autosomal recessive	[2]

References

• [1] Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet. 2007 Jan;44(1):64-8. doi: 10.1136/jmg.2006.044644. Epub 2006 Jul 6.
• [2] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
• [3] Coexistence of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy Associated With SLC4A11 Mutations in Affected Families.Cornea. 2020 Mar;39(3):354-357. doi: 10.1097/ICO.0000000000002183.
• [4] Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy.Invest Ophthalmol Vis Sci. 2012 Jan 25;53(1):273-8. doi: 10.1167/iovs.11-8038.
• [5] Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family.Br J Ophthalmol. 2020 Nov;104(11):1621-1628. doi: 10.1136/bjophthalmol-2019-314377. Epub 2019 Aug 16.
• [6] Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001 Oct 1;10(21):2415-23. doi: 10.1093/hmg/10.21.2415.
• [7] Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11. Ophthalmic Genet. 2015;36(3):284-6. doi: 10.3109/13816810.2014.881510.