ORPHA:88661

Amelogenesis imperfecta

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive, X-linked dominant
Age of onset: Infancy, Neonatal
Status: active

A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Amelogenesis imperfecta
fr	Amélogenèse imparfaite
de	Amelogenesis imperfecta
es	Amelogénesis imperfecta
it	Amelogenesi imperfetta
nl	Amelogenesis imperfecta
pt	Amelogénese imperfeita
pl	Amelogenesis imperfecta - Wrodzony niedorozwój szkliwa
cs	Amelogenesis imperfecta
uk	Недосконалий амелогенез
zh	牙釉质生长不全
tr	Amelogenezis imperfekta

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	104500	BTNT		validated
OMIM	104510	BTNT		validated
OMIM	104530	BTNT		validated
OMIM	130900	BTNT		validated
OMIM	204650	BTNT		validated
OMIM	204700	BTNT		validated
OMIM	301200	BTNT		validated
OMIM	301201	BTNT		validated
OMIM	612529	BTNT		validated
OMIM	613211	BTNT		validated
OMIM	614832	BTNT		validated
OMIM	615887	BTNT		validated
OMIM	616221	BTNT		validated
OMIM	616270	BTNT		validated
OMIM	617217	BTNT		validated
OMIM	620104	BTNT		validated
ICD-10	K00.5	NTBT	inclusion	validated
ICD-11	LA30.6	E	specific	validated
MONDO	0019507	E		validated
MeSH	D000567	E		validated
UMLS	C0002452	E		validated
GARD	5791	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98026Rare odontologic disease

Parents in the classifications (2):

ORPHA:420755Rare genetic odontal or periodontal disorder
rare genetic diseases
ORPHA:164001Rare odontal or periodontal disorder
rare odontological diseases

Children (4):

Genes

0 direct · 19 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ACP4	ORPHA:100031Hypoplastic amelogenesis imperfecta	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:14376	ENSG00000142513	606362	19q13.33	acid phosphatase 4	27843125[PMID]
GPR68	ORPHA:100033Hypomaturation amelogenesis imperfecta	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4519	ENSG00000119714	601404	14q32.11	G protein-coupled receptor 68	27693231[PMID]
ITGB6	ORPHA:100031Hypoplastic amelogenesis imperfecta	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:6161	ENSG00000115221	147558	2q24.2	integrin subunit beta 6	24305999[PMID]
ODAPH	ORPHA:100033Hypomaturation amelogenesis imperfecta	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:26300	ENSG00000174792	614829	4q21.1	odontogenesis associated phosphoprotein	22901946[PMID]
RELT	ORPHA:100032Hypocalcified amelogenesis imperfecta	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:13764	ENSG00000054967	611211	11q13.4	RELT TNF receptor	30506946[PMID]
AMBN	ORPHA:100031Hypoplastic amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:452	ENSG00000178522	601259	4q13.3	ameloblastin	24858907[PMID]
AMELX	ORPHA:100033Hypomaturation amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:461	ENSG00000125363	300391	Xp22.2	amelogenin X-linked	23251683[PMID]
AMTN	ORPHA:100032Hypocalcified amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:33188	ENSG00000187689	610912	4q13.3	amelotin	27412008[PMID]
DLX3	ORPHA:100034Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	Disease-causing germline mutation(s) in	Assessed	HGNC:2916	ENSG00000064195	600525	17q21.33	distal-less homeobox 3	15666299[PMID]
ENAM	ORPHA:100031Hypoplastic amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:3344	ENSG00000132464	606585	4q13.3	enamelin	11978766[PMID]_14684688[PMID]
ITGB6	ORPHA:100032Hypocalcified amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:6161	ENSG00000115221	147558	2q24.2	integrin subunit beta 6	24319098[PMID]
KLK4	ORPHA:100033Hypomaturation amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:6365	ENSG00000167749	603767	19q13.41	kallikrein related peptidase 4	21597265[PMID]
LAMB3	ORPHA:100031Hypoplastic amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:6490	ENSG00000196878	150310	1q32.2	laminin subunit beta 3	23632796[PMID]
MMP20	ORPHA:100033Hypomaturation amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:7167	ENSG00000137674	604629	11q22.2	matrix metallopeptidase 20	15744043[PMID]
SACK1H	ORPHA:100032Hypocalcified amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:24797	ENSG00000180921	611927	8q24.3	scaffolding CK1 anchoring protein H	18252228[PMID]
SLC24A4	ORPHA:100032Hypocalcified amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:10978	ENSG00000140090	609840	14q32.12	solute carrier family 24 member 4	23375655[PMID]
SLC24A4	ORPHA:100033Hypomaturation amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:10978	ENSG00000140090	609840	14q32.12	solute carrier family 24 member 4	24621671[PMID]
SP6	ORPHA:100031Hypoplastic amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:14530	ENSG00000189120	608613	17q21.32	Sp6 transcription factor	32167558[PMID]_33652941[PMID]
WDR72	ORPHA:100033Hypomaturation amelogenesis imperfecta	Disease-causing germline mutation(s) in	Assessed	HGNC:26790	ENSG00000166415	613214	15q21.3	WD repeat domain 72	19853237[PMID]

Prevalence and incidence

4 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 100 000	7.1 / 100 000	United States	Value and class	Validated	13469154[PMID]
Point prevalence	6-9 / 10 000	90 / 100 000	India	Value and class	Validated	21712629[PMID]
Point prevalence	>1 / 1000	142 / 100 000	Sweden	Value and class	Validated	3169793[PMID]
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

16 annotations · validated 2020-02-14

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0011073	Abnormality of dental color
HP:0006286	Yellow-brown discoloration of the teeth
Frequent (79-30%)
HP:0009102	Anterior open-bite malocclusion
HP:0006285	Enamel hypomineralization
HP:0006297	Enamel hypoplasia
HP:0025124	Fragile teeth
HP:0011084	Hypocalcification of dental enamel
HP:0011085	Hypomature dental enamel
HP:0005216	Impaired mastication
Occasional (29-5%)
HP:0030791	Abnormal jaw morphology
HP:0010299	Abnormality of dentin
HP:0011071	Abnormality of permanent molar morphology
HP:0000685	Hypoplasia of teeth
HP:0006283	Multiple unerupted teeth
HP:0000679	Taurodontia
HP:0000687	Widely spaced teeth

Run the differential on the 2 obligate / very frequent terms

Annotation source: 27550338[PMID]_17408482[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/88661
This record as JSON: /data/d/88661.json