Hypoplastic amelogenesis imperfecta

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Hypoplastic amelogenesis imperfecta

ORPHA:100031Clinical subtype

Also called Amelogenesis imperfecta type 1

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

Inheritance
Autosomal dominant, Autosomal recessive, X-linked dominant
Classified as
Clinical subtype

Recorded for the broader condition

Prevalence
1-9 / 100 000 (United States)Amelogenesis imperfecta
Age of onset
Infancy, NeonatalAmelogenesis imperfecta

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Genes

ACP4Disease-causing germline mutation(s) (loss of function)
AMBNDisease-causing germline mutation(s)
ENAMDisease-causing germline mutation(s)
ITGB6Disease-causing germline mutation(s) (loss of function)
LAMB3Disease-causing germline mutation(s)
SP6Disease-causing germline mutation(s)

ICD-10 codes

K00.5filed under a broader ICD-10 category — shared with 13 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 645MESH C538240MONDO 0015047OMIM 104500OMIM 104530OMIM 204650OMIM 301201OMIM 616221OMIM 616270OMIM 617297UMLS C0399367

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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