U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Early-onset partial cataract

MedGen UID:
1842758
Concept ID:
C5681643
Anatomical Abnormality
Synonym: early-onset partial cataract
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.
 
Monarch Initiative: MONDO:0020377
Orphanet: ORPHA98992

Term Hierarchy

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

Recent clinical studies

Etiology

Senthil S, Uche NJ, Mohamed A, Krishnamurthy R, Badakere S, Mandal AK, Garudadari C
Ophthalmol Glaucoma 2021 May-Jun;4(3):305-311. Epub 2020 Sep 20 doi: 10.1016/j.ogla.2020.09.012. PMID: 32966898

Diagnosis

Wei H, Meng X, Qin H, Li X
J Med Case Rep 2023 Dec 26;17(1):532. doi: 10.1186/s13256-023-04272-7. PMID: 38146062Free PMC Article

Prognosis

Senthil S, Uche NJ, Mohamed A, Krishnamurthy R, Badakere S, Mandal AK, Garudadari C
Ophthalmol Glaucoma 2021 May-Jun;4(3):305-311. Epub 2020 Sep 20 doi: 10.1016/j.ogla.2020.09.012. PMID: 32966898

Clinical prediction guides

Brivet M, Abadie V, Soni T, Cheron G, Dufier JL
Arch Dis Child 1986 May;61(5):445-8. doi: 10.1136/adc.61.5.445. PMID: 3013103Free PMC Article
Winder AF, Claringbold LJ, Jones RB, Jay BS, Rice NS, Kissun RD, Menzies IS, Mount JN
Arch Dis Child 1983 May;58(5):362-6. doi: 10.1136/adc.58.5.362. PMID: 6859916Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...