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Posterior polymorphous corneal dystrophy 3(PPCD3)

MedGen UID:
322978
Concept ID:
C1836724
Disease or Syndrome
Synonym: PPCD3
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): ZEB1 (10p11.22)
 
Monarch Initiative: MONDO:0012200
OMIM®: 609141

Definition

Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene. [from MONDO]

Clinical features

From HPO
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region.
Corneal dystrophy
MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.
Corneal guttata
MedGen UID:
488833
Concept ID:
C0271288
Disease or Syndrome
Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.

Recent clinical studies

Diagnosis

Jang MS, Roldan AN, Frausto RF, Aldave AJ
Vision Res 2014 Jul;100:88-92. Epub 2014 Apr 26 doi: 10.1016/j.visres.2014.04.007. PMID: 24780443Free PMC Article
Liskova P, Palos M, Hardcastle AJ, Vincent AL
JAMA Ophthalmol 2013 Oct;131(10):1296-303. doi: 10.1001/jamaophthalmol.2013.405. PMID: 23807282
Mehta JS, Vithana EN, Tan DT, Yong VH, Yam GH, Law RW, Chong WG, Pang CP, Aung T
Invest Ophthalmol Vis Sci 2008 Jan;49(1):184-8. doi: 10.1167/iovs.07-0847. PMID: 18172091

Therapy

Zakharevich M, Kattan JM, Chen JL, Lin BR, Cervantes AE, Chung DD, Frausto RF, Aldave AJ
Mol Vis 2017;23:740-752. Epub 2017 Oct 14 PMID: 29046608Free PMC Article

Prognosis

Chung DW, Frausto RF, Ann LB, Jang MS, Aldave AJ
Invest Ophthalmol Vis Sci 2014 Sep 4;55(10):6159-66. doi: 10.1167/iovs.14-15247. PMID: 25190660Free PMC Article
Yellore VS, Papp JC, Sobel E, Khan MA, Rayner SA, Farber DB, Aldave AJ
Genet Med 2007 Apr;9(4):228-34. doi: 10.1097/gim.0b013e31803c4dc2. PMID: 17438387

Clinical prediction guides

Zakharevich M, Kattan JM, Chen JL, Lin BR, Cervantes AE, Chung DD, Frausto RF, Aldave AJ
Mol Vis 2017;23:740-752. Epub 2017 Oct 14 PMID: 29046608Free PMC Article
Chung DW, Frausto RF, Chiu S, Lin BR, Aldave AJ
Invest Ophthalmol Vis Sci 2016 Aug 1;57(10):4136-43. doi: 10.1167/iovs.16-19533. PMID: 27537263Free PMC Article
Evans CJ, Liskova P, Dudakova L, Hrabcikova P, Horinek A, Jirsova K, Filipec M, Hardcastle AJ, Davidson AE, Tuft SJ
Ann Hum Genet 2015 Jan;79(1):1-9. Epub 2014 Dec 1 doi: 10.1111/ahg.12090. PMID: 25441224
Chung DW, Frausto RF, Ann LB, Jang MS, Aldave AJ
Invest Ophthalmol Vis Sci 2014 Sep 4;55(10):6159-66. doi: 10.1167/iovs.14-15247. PMID: 25190660Free PMC Article
Yellore VS, Papp JC, Sobel E, Khan MA, Rayner SA, Farber DB, Aldave AJ
Genet Med 2007 Apr;9(4):228-34. doi: 10.1097/gim.0b013e31803c4dc2. PMID: 17438387

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