loading...| Preferred Name |
amelogenesis imperfecta type 1G |
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| Synonyms |
amelogenesis imperfecta and nephrocalcinosis amelogenesis imperfecta-nephrocalcinosis syndrome enamel renal syndrome amelogenesis imperfecta, hypoplastic, with nephrocalcinosis generalized enamel hypoplasia and renal dysfunction absent enamel, nephrocalcinosis and apparently normal calcium metabolism amelogenesis imperfecta nephrocalcinosis amelogenesis imperfecta hypoplastic type, Ig amelogenesis imperfecta, type Ig amelogenesis imperfecta, type 1G amelogenesis imperfecta hypoplastic with nephrocalcinosis enamel-renal-gingival syndrome FAM20A amelogenesis imperfecta amelogenesis imperfecta type Ig AIGFS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta caused by mutation in FAM20A enamel-renal syndrome AI1G ers |
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| Definitions |
Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008771 |
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| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml |
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| database_cross_reference |
ICD9:520.5 OMIM:204690 MESH:C538241 SCTID:109477002 DOID:0110066 Orphanet:1031 ICD10:K00.5 GARD:0000646 GARD:0009860 |
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| disease has basis in dysfunction of | ||
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0403549 http://identifiers.org/snomedct/109477002 http://www.orpha.net/ORDO/Orphanet_1031 http://purl.obolibrary.org/obo/DOID_0110066 http://identifiers.org/omim/204690 |
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| has exact synonym |
amelogenesis imperfecta hypoplastic with nephrocalcinosis enamel-renal-gingival syndrome FAM20A amelogenesis imperfecta amelogenesis imperfecta type Ig AIGFS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta caused by mutation in FAM20A enamel-renal syndrome AI1G ers |
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| has related synonym |
amelogenesis imperfecta and nephrocalcinosis amelogenesis imperfecta-nephrocalcinosis syndrome enamel renal syndrome amelogenesis imperfecta, hypoplastic, with nephrocalcinosis generalized enamel hypoplasia and renal dysfunction absent enamel, nephrocalcinosis and apparently normal calcium metabolism amelogenesis imperfecta nephrocalcinosis amelogenesis imperfecta hypoplastic type, Ig amelogenesis imperfecta, type Ig amelogenesis imperfecta, type 1G |
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| id |
MONDO:0008771 |
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| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_malformation_syndrome |
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| label |
amelogenesis imperfecta type 1G |
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| notation |
MONDO:0008771 |
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| prefLabel |
amelogenesis imperfecta type 1G |
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| textual definition |
Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015336 |