MCID: AML006
MIFTS: 15

Amelogenesis Imperfecta Hypoplastic Type, Ig

Categories: Rare diseases, Oral diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Amelogenesis Imperfecta Hypoplastic Type, Ig

MalaCards integrated aliases for Amelogenesis Imperfecta Hypoplastic Type, Ig:

Name: Amelogenesis Imperfecta Hypoplastic Type, Ig 49
Amelogenesis Imperfecta Nephrocalcinosis 49 69
Absent Enamel, Nephrocalcinosis and Apparently Normal Calcium Metabolism 49
Generalized Enamel Hypoplasia and Renal Dysfunction 49
Amelogenesis Imperfecta and Nephrocalcinosis 49
Enamel-Renal Syndrome 49
Enamel Renal Syndrome 49
Ai1g 49
Ers 49

Classifications:



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UMLS 69 C2931783

Summaries for Amelogenesis Imperfecta Hypoplastic Type, Ig

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1031Disease definitionAmelogenesis 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.Visit the Orphanet disease page for more resources. Last updated: 1/1/2013

MalaCards based summary : Amelogenesis Imperfecta Hypoplastic Type, Ig, also known as amelogenesis imperfecta nephrocalcinosis, is related to epithelial recurrent erosion dystrophy and hypogonadism-cataract syndrome, and has symptoms including polyuria An important gene associated with Amelogenesis Imperfecta Hypoplastic Type, Ig is FAM20A (FAM20A, Golgi Associated Secretory Pathway Pseudokinase).

Related Diseases for Amelogenesis Imperfecta Hypoplastic Type, Ig

Diseases in the Hypoplastic Amelogenesis Imperfecta family:

Amelogenesis Imperfecta Hypoplastic Type, Ig

Diseases related to Amelogenesis Imperfecta Hypoplastic Type, Ig via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epithelial recurrent erosion dystrophy 11.8
2 hypogonadism-cataract syndrome 11.6
3 amelogenesis imperfecta, type ig 11.2
4 amelogenesis imperfecta 10.4
5 nephrocalcinosis 10.4

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta Hypoplastic Type, Ig:



Diseases related to Amelogenesis Imperfecta Hypoplastic Type, Ig

Symptoms & Phenotypes for Amelogenesis Imperfecta Hypoplastic Type, Ig

UMLS symptoms related to Amelogenesis Imperfecta Hypoplastic Type, Ig:


polyuria

Drugs & Therapeutics for Amelogenesis Imperfecta Hypoplastic Type, Ig

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta Hypoplastic Type, Ig

Genetic Tests for Amelogenesis Imperfecta Hypoplastic Type, Ig

Anatomical Context for Amelogenesis Imperfecta Hypoplastic Type, Ig

Publications for Amelogenesis Imperfecta Hypoplastic Type, Ig

Articles related to Amelogenesis Imperfecta Hypoplastic Type, Ig:

# Title Authors Year
1
Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. ( 9870488 )
1998
2
Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. ( 3872071 )
1985

Variations for Amelogenesis Imperfecta Hypoplastic Type, Ig

ClinVar genetic disease variations for Amelogenesis Imperfecta Hypoplastic Type, Ig:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FAM20A NM_017565.3(FAM20A): c.406C> T (p.Arg136Ter) single nucleotide variant Pathogenic rs144411158 GRCh37 Chromosome 17, 66551883: 66551883
2 FAM20A NM_017565.3(FAM20A): c.34_35delCT (p.Leu12Alafs) deletion Pathogenic rs587776911 GRCh37 Chromosome 17, 66596773: 66596774
3 FAM20A NM_017565.3(FAM20A): c.813-2A> G single nucleotide variant Pathogenic rs587776912 GRCh37 Chromosome 17, 66538952: 66538952
4 FAM20A NM_017565.3(FAM20A): c.1175_1179delGGCTC (p.Arg392Profs) deletion Pathogenic rs587776913 GRCh37 Chromosome 17, 66537030: 66537034
5 FAM20A NM_017565.3(FAM20A): c.590-2A> G single nucleotide variant Pathogenic rs587776914 GRCh37 Chromosome 17, 66550970: 66550970
6 FAM20A NM_017565.3(FAM20A): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs387907215 GRCh37 Chromosome 17, 66538937: 66538937
7 FAM20A NM_017565.3(FAM20A): c.720-2A> G single nucleotide variant Pathogenic rs587777530 GRCh37 Chromosome 17, 66539864: 66539864
8 FAM20A NM_017565.3(FAM20A): c.1432C> T (p.Arg478Ter) single nucleotide variant Pathogenic rs139620139 GRCh37 Chromosome 17, 66533812: 66533812
9 FAM20A NM_017565.3(FAM20A): c.612delC (p.Leu205Cysfs) deletion Pathogenic rs587777531 GRCh37 Chromosome 17, 66550946: 66550946

Expression for Amelogenesis Imperfecta Hypoplastic Type, Ig

Search GEO for disease gene expression data for Amelogenesis Imperfecta Hypoplastic Type, Ig.

Pathways for Amelogenesis Imperfecta Hypoplastic Type, Ig

GO Terms for Amelogenesis Imperfecta Hypoplastic Type, Ig

Sources for Amelogenesis Imperfecta Hypoplastic Type, Ig

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