Cataract 41

Synonyms: CATARACT 41, CONGENITAL NUCLEAR TYPE

Summary

Excerpted from the GeneReview: WFS1 Spectrum Disorder

WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.

Full text of GeneReview (by section):: Summary; GeneReview Scope; Diagnosis; Clinical Characteristics; Genetically Related (Allelic) Disorders; Differential Diagnosis; Management; Genetic Counseling; Resources; Molecular Genetics; Chapter Notes; References

Authors:: Timothy Barrett; Lisbeth Tranebjærg; Rajat Gupta; view full author information

Available tests

54 tests are in the database for this condition.

Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

WFS1
198 tests
Also known as: CTRCT41, WFRS, WFS, WFSL, WFS1
Summary: wolframin ER transmembrane glycoprotein

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the eye
- Nuclear cataract
  Nuclear cataract
  - MedGen UID: 140274
  - Concept ID: C0392557
  - Finding: Finding
  Abnormality of the eye
  See: Feature record | Search on this feature

Reviews

Clinical resources

Molecular resources

Consumer resources

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