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Early-onset non-syndromic cataract

MedGen UID:
371326
Concept ID:
C1832423
Disease or Syndrome; Pathologic Function
Synonyms: Age-related nuclear cataract; NUCLEAR SCLEROSIS OF THE LENS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
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.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
HPO: HP:0011142
Monarch Initiative: MONDO:0011060
OMIM®: 601371
Orphanet: ORPHA91492

Definition

A type of age-related cataract that primarily affects the nucleus of the lens. [from HPO]

Clinical features

From HPO
Nuclear cataract
MedGen UID:
140274
Concept ID:
C0392557
Finding
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEarly-onset non-syndromic cataract

Recent clinical studies

Etiology

Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G
Ophthalmic Genet 2019 Apr;40(2):124-128. Epub 2019 Apr 1 doi: 10.1080/13816810.2019.1586965. PMID: 30932721
Khan AO, Aldahmesh MA, Alsharif H, Alkuraya FS
Ophthalmic Genet 2015 Mar;36(1):58-63. Epub 2014 Dec 3 doi: 10.3109/13816810.2014.985847. PMID: 25469533
Guo H, Tong P, Peng Y, Wang T, Liu Y, Chen J, Li Y, Tian Q, Hu Y, Zheng Y, Xiao L, Xiong W, Pan Q, Hu Z, Xia K
Clin Genet 2014 Dec;86(6):575-9. Epub 2013 Nov 26 doi: 10.1111/cge.12309. PMID: 24172257

Diagnosis

Khan AO, Aldahmesh MA, Alsharif H, Alkuraya FS
Ophthalmic Genet 2015 Mar;36(1):58-63. Epub 2014 Dec 3 doi: 10.3109/13816810.2014.985847. PMID: 25469533

Clinical prediction guides

Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G
Ophthalmic Genet 2019 Apr;40(2):124-128. Epub 2019 Apr 1 doi: 10.1080/13816810.2019.1586965. PMID: 30932721

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