Rare disease

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Rare disease with glaucoma as a major feature

ORPHA:98638Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ADAMTS10ADAMTS17B3GALNT2B3GLCTBCORBDNFBUB1BUB1BBUB3CANT1CBSCCND1CEP57COL11A1COX7BCRPPACSGALNACT1FBN1FKRPFKTNFOXC1GMPPBGNAQHCCSLARGE1LMX1BLTBP2NDUFB11OCRLPAX6PIK3R1PITX2POMGNT1POMT1POMT2RNU4ATACTRIP13VHLWT1XYLT1

Orphanet records these genes on 18 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

UMLS C5681670

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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