Amelogenesis imperfecta, type ig

Preferred Label : Amelogenesis imperfecta, type ig;

Symbol : AI1G;

CISMeF acronym : AIGFS; AI1G; ERS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amelogenesis imperfecta and gingival fibromatosis syndrome; Enamel-renal-gingival syndrome; ERS; AIGFS; Amelogenesis imperfecta, hypoplastic, with nephrocalcinosis; Enamel-renal syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the family with sequence similarity 20, member A gene (FAM20A, 611062.0001);

Laboratory abnormalities : Increased serum osteocalcin; Decreased urinary calcium and phosphate excretion;

Prefixed ID : #204690;

Details

Origin ID

204690;

UMLS CUI

C2931783;

Automatic exact mappings (from CISMeF team)
- EREG wt Allele [NCIt concept]
- ESR1 wt Allele [NCIt concept]
- Estrogen Receptor [NCIt concept]
CISMeF manual mappings
- amelogenesis imperfecta type 1G [DO Concept]
Currated CISMeF NLP mapping
- Amelogenesis imperfecta nephrocalcinosis [MeSH concept]
- Enamel-renal syndrome [ORDO Disease]
- Enamel-renal syndrome (disorder) [SNOMED CT concept]
- amelogenesis imperfecta nephrocalcinosis [MeSH Supplementary Concept]
DO Cross reference
- amelogenesis imperfecta type 1G [DO Concept]
False automatic mappings
- Adverse Event Emergency Room Visit [NCIt concept]
- Endoplasmic Reticulum [NCIt concept]
- Endoplasmic reticulum (cell structure) [SNOMED CT concept]
- Erbium [NCIt concept]
- Eritrea [NCIt concept]
- Estrogen Receptor Family [NCIt concept]
- Estrogen Receptor Measurement [NCIt concept]
- Estrogen Receptor Negative [NCIt concept]
- Estrogen Receptor Positive [NCIt concept]
- Extended Release Dosage Form [NCIt concept]
- endoplasmic reticulum [GO term]
Genes related to phenotype
- Family with sequence similarity 20, member a [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dagger-shaped pulp calcifications [HPO term]
- Delayed eruption of permanent teeth [HPO term]
- Enuresis [HPO term]
- Gingival overgrowth [HPO term]
- Impaired renal concentrating ability [HPO term]
- Nephrocalcinosis [HPO term]
- Overgrowth [HPO term]
- Polyuria [HPO term]
- Renal insufficiency [HPO term]
ORDO concept(s)
- Enamel-renal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amelogenesis imperfecta nephrocalcinosis [MeSH concept]
- Enamel-renal syndrome [ORDO Disease]
- Enamel-renal syndrome (disorder) [SNOMED CT concept]
- amelogenesis imperfecta nephrocalcinosis [MeSH Supplementary Concept]
- amelogenesis imperfecta type 1G [DO Concept]

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