Skip to main content

RareConnect.ioRare Intelligence

Explore Data Discover Patient Groups News Partner

Sign In Sign Up

Explore Data Patient Groups News Partner

RareConnect.ioRare Intelligence

Combining the speed of AI with the wisdom of the community to build the world's most accurate disease registry.

Explore

Disease Directory
Patient Groups
News
FAQ
MONDO Ontology ↗

Get Involved

Partner with Us
Register Your PAG
Community
Pricing

Legal

Privacy Policy
Terms of Service
Accessibility
Contact Us

© 2025 RareConnect.io. Powered by MONDO Ontology

amelogenesis imperfecta type 2A1 | RareConnect | RareConnect.io

/amelogenesis imperfecta type 2

/amelogenesis imperfecta type 2A1

amelogenesis imperfecta type 2A1

Rare Disease

MONDO:0008772

Also Known As

AI2A1KLK4 amelogenesis imperfectaamelogenesis imperfecta caused by mutation in KLK4amelogenesis imperfecta pigmented hypomaturation type 1amelogenesis imperfecta type IIA1amelogenesis imperfecta, type IIA1amelogenesis imperfecta pigmented hypomaturation typeamelogenesis imperfecta, hypomaturation type, IIA1amelogenesis imperfecta, pigmented hypomaturation type, 1

Definition

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:204700 ↗

GARD

Related Diseases

amelogenesis imperfecta type 1E

MONDO:0010521

amelogenesis imperfecta hypomaturation type 2A2

MONDO:0012926

amelogenesis imperfecta hypomaturation type 2A3

MONDO:0013181

amelogenesis imperfecta hypomaturation type 2A4

MONDO:0013906

amelogenesis imperfecta hypomaturation type 2A5

MONDO:0014385

amelogenesis imperfecta, hypomaturation type, IIa6

MONDO:0014971

← Back to All Diseases