Disease #01651 (AI1G (amelogenesis imperfecta, type IG (AI1G, enamelrenal syndrome)), OMIM:204690)

Official abbreviation	AI1G
Name	amelogenesis imperfecta, type IG (AI1G, enamelrenal syndrome)
OMIM ID	204690
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	5
Phenotype entries for this disease	5
Associated with 1 gene	FAM20A
Associated tissues	-
Disease features	hypoplastic enamel on primary and secondary dentition, pulp stones, delayed or failed eruption of secondary dentition, gingival overgrowth, nephrocalcinosis, blood chemistry analyses typically normal, nephrocalcinosis (renal ultrasound) may not appear until later in life
Remarks	autosomal recessive
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
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? (unknown)
- (not applicable)
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Bulgaria
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Tunisia
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Turkey
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Turkmenistan
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Tuvalu
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Uganda
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Ukraine
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United Arab Emirates
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Yemen
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Yugoslavia
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Zambia
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Zimbabwe
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Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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5 entries on 1 page. Showing entries 1 - 5.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00107849	-	PubMed: Cho 2012	-	F	-	Korea	-	-	-	-	-	AI1G	Amelogenesis imperfecta; Autosomal recessive hypoplastic amelogenesis imperfecta; Gingival hyperplasia; Pulp stones; Prolonged retention of the deciduous teeth; Delayed or failed eruption of permanent teeth;	FAM20A	FAM20A	1	1	JUNG-WOOK KIM
00107850	-	PubMed: Cho 2012	-	F	-	Korea	-	-	-	-	-	AI1G	Amelogenesis imperfecta; Autosomal recessive hypoplastic amelogenesis imperfecta; Gingival hyperplasia; Pulp stones; Prolonged retention of the deciduous teeth; Delayed or failed eruption of permanent teeth;	FAM20A	FAM20A	2	1	JUNG-WOOK KIM
00107851	-	PubMed: Cho 2012	-	M	-	Korea	-	-	-	-	-	AI1G	Amelogenesis imperfecta; Autosomal recessive hypoplastic amelogenesis imperfecta; Gingival hyperplasia; Pulp stones; Prolonged retention of the deciduous teeth; Delayed or failed eruption of permanent teeth;	FAM20A	FAM20A	1	1	JUNG-WOOK KIM
00107852	-	PubMed: Cho 2012	-	M	-	Korea	-	-	-	-	-	AI1G	Amelogenesis imperfecta; Autosomal recessive hypoplastic amelogenesis imperfecta; Gingival hyperplasia; Pulp stones; Prolonged retention of the deciduous teeth; Delayed or failed eruption of permanent teeth;	FAM20A	FAM20A	1	1	JUNG-WOOK KIM
00435221	-	-	-	-	-	-	-	-	-	-	-	AI1G	Amelogenesis imperfecta, Delayed permanent dentition	FAM20A	FAM20A	1	1	Gemeinschaftspraxis für Humangenetik Dresden

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Global Variome shared LOVD

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