MCID: AML044
MIFTS: 36

Amelogenesis Imperfecta, Type Ig

Categories: Genetic diseases, Nephrological diseases, Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Amelogenesis Imperfecta, Type Ig

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ig:

Name: Amelogenesis Imperfecta, Type Ig 57 40
Enamel-Renal Syndrome 57 12 59 75 29 6
Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome 57 12 75 13 6
Enamel-Renal-Gingival Syndrome 57 12 75
Aigfs 57 12 75
Ai1g 57 12 75
Ers 57 12 75
Amelogenesis Imperfecta Type 1g 12 15
Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome; Aigfs 57
Amelogenesis Imperfecta, Hypoplastic, with Nephrocalcinosis 57
Amelogenesis Imperfecta Hypoplastic with Nephrocalcinosis 12
Hypoplastic Amelogenesis Imperfecta with Nephrocalcinosis 75
Amelogenesis Imperfecta-Nephrocalcinosis Syndrome 59
Amelogenesis Imperfecta Nephrocalcinosis 73
Amelogenesis Imperfecta Type Ig 12
Enamel-Renal Syndrome; Ers 57
Amelogenesis Imperfecta 1g 75
Fibromatosis, Gingival 44

Characteristics:

Orphanet epidemiological data:

59
amelogenesis imperfecta-nephrocalcinosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable age of onset of renal manifestations


HPO:

32
amelogenesis imperfecta, type ig:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 204690
Disease Ontology 12 DOID:0110066
ICD10 33 K00.5
Orphanet 59 ORPHA1031
MESH via Orphanet 45 C538241
UMLS via Orphanet 74 C0403549 C2931783
ICD10 via Orphanet 34 K00.5
MedGen 42 C2931783
UMLS 73 C2931783

Summaries for Amelogenesis Imperfecta, Type Ig

OMIM : 57 Amelogenesis imperfecta type IG, also known as enamel-renal syndrome, is characterized by hypoplastic enamel on primary and secondary dentition, pulp stones, delayed or failed eruption of secondary dentition, gingival overgrowth, and nephrocalcinosis. Blood chemistry analyses are typically normal, and nephrocalcinosis, which is found on renal ultrasound, may not appear until later in life (summary by Wang et al., 2013). (204690)

MalaCards based summary : Amelogenesis Imperfecta, Type Ig, also known as enamel-renal syndrome, is related to fibromatosis, gingival, 1 and fibromatosis, gingival, 5, and has symptoms including polyuria An important gene associated with Amelogenesis Imperfecta, Type Ig is FAM20A (FAM20A, Golgi Associated Secretory Pathway Pseudokinase). Related phenotypes are nephropathy and delayed eruption of teeth

Disease Ontology : 12 An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.

UniProtKB/Swiss-Prot : 75 Amelogenesis imperfecta 1G: A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth.

Related Diseases for Amelogenesis Imperfecta, Type Ig

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



Diseases related to Amelogenesis Imperfecta, Type Ig

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ig

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
gingival overgrowth
amelogenesis imperfecta, hypoplastic
yellow-brown teeth
delayed permanent dentition
coronal and radicular dagger-shaped pulpal calcifications
more
Genitourinary Bladder:
enuresis

Laboratory Abnormalities:
increased serum osteocalcin
decreased urinary calcium and phosphate excretion

Genitourinary Kidneys:
nephrocalcinosis
renal failure
impaired renal concentrating ability

Metabolic Features:
polyuria


Clinical features from OMIM:

204690

Human phenotypes related to Amelogenesis Imperfecta, Type Ig:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
2 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
3 nephrocalcinosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000121
4 abnormality of calcium-phosphate metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0100530
5 amelogenesis imperfecta 59 32 hallmark (90%) Very frequent (99-80%) HP:0000705
6 yellow-brown discoloration of the teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006286
7 gingival overgrowth 32 HP:0000212
8 renal insufficiency 32 HP:0000083
9 abnormality of dental enamel 59 Very frequent (99-80%)
10 abnormality of dental color 59 Very frequent (99-80%)
11 overgrowth 32 HP:0001548
12 delayed eruption of permanent teeth 32 HP:0000696
13 enuresis 32 HP:0000805
14 polyuria 32 HP:0000103
15 impaired renal concentrating ability 32 HP:0004727
16 dagger-shaped pulp calcifications 32 HP:0006302

UMLS symptoms related to Amelogenesis Imperfecta, Type Ig:


polyuria

MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Type Ig:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 FAM20A FAM20C LMBR1 TENM4

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ig

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

Cochrane evidence based reviews: fibromatosis, gingival

Genetic Tests for Amelogenesis Imperfecta, Type Ig

Genetic tests related to Amelogenesis Imperfecta, Type Ig:

# Genetic test Affiliating Genes
1 Enamel-Renal Syndrome 29 FAM20A

Anatomical Context for Amelogenesis Imperfecta, Type Ig

Publications for Amelogenesis Imperfecta, Type Ig

Articles related to Amelogenesis Imperfecta, Type Ig:

# Title Authors Year
1
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes. ( 28086997 )
2017
2
Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report. ( 26389061 )
2015
3
FAM20A mutations associated with enamel renal syndrome. ( 24196488 )
2014
4
FAM20A mutations can cause enamel-renal syndrome (ERS). ( 23468644 )
2013
5
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. ( 23434854 )
2012

Variations for Amelogenesis Imperfecta, Type Ig

UniProtKB/Swiss-Prot genetic disease variations for Amelogenesis Imperfecta, Type Ig:

75
# Symbol AA change Variation ID SNP ID
1 FAM20A p.Leu173Arg VAR_072170
2 FAM20A p.Gly331Asp VAR_072171 rs981673034
3 FAM20A p.Asp403Asn VAR_072172 rs377432171

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ig:

6
(show all 18)
# 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.406C> T (p.Arg136Ter) single nucleotide variant Pathogenic rs144411158 GRCh38 Chromosome 17, 68555742: 68555742
3 FAM20A NM_017565.3(FAM20A): c.34_35delCT (p.Leu12Alafs) deletion Pathogenic rs587776911 GRCh37 Chromosome 17, 66596773: 66596774
4 FAM20A NM_017565.3(FAM20A): c.34_35delCT (p.Leu12Alafs) deletion Pathogenic rs587776911 GRCh38 Chromosome 17, 68600632: 68600633
5 FAM20A NM_017565.3(FAM20A): c.813-2A> G single nucleotide variant Pathogenic rs587776912 GRCh37 Chromosome 17, 66538952: 66538952
6 FAM20A NM_017565.3(FAM20A): c.813-2A> G single nucleotide variant Pathogenic rs587776912 GRCh38 Chromosome 17, 68542811: 68542811
7 FAM20A NM_017565.3(FAM20A): c.1175_1179delGGCTC (p.Arg392Profs) deletion Pathogenic rs587776913 GRCh37 Chromosome 17, 66537030: 66537034
8 FAM20A NM_017565.3(FAM20A): c.1175_1179delGGCTC (p.Arg392Profs) deletion Pathogenic rs587776913 GRCh38 Chromosome 17, 68540889: 68540893
9 FAM20A NM_017565.3(FAM20A): c.590-2A> G single nucleotide variant Pathogenic rs587776914 GRCh37 Chromosome 17, 66550970: 66550970
10 FAM20A NM_017565.3(FAM20A): c.590-2A> G single nucleotide variant Pathogenic rs587776914 GRCh38 Chromosome 17, 68554829: 68554829
11 FAM20A NM_017565.3(FAM20A): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs387907215 GRCh37 Chromosome 17, 66538937: 66538937
12 FAM20A NM_017565.3(FAM20A): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs387907215 GRCh38 Chromosome 17, 68542796: 68542796
13 FAM20A NM_017565.3(FAM20A): c.720-2A> G single nucleotide variant Pathogenic rs587777530 GRCh37 Chromosome 17, 66539864: 66539864
14 FAM20A NM_017565.3(FAM20A): c.720-2A> G single nucleotide variant Pathogenic rs587777530 GRCh38 Chromosome 17, 68543723: 68543723
15 FAM20A NM_017565.3(FAM20A): c.1432C> T (p.Arg478Ter) single nucleotide variant Pathogenic rs139620139 GRCh37 Chromosome 17, 66533812: 66533812
16 FAM20A NM_017565.3(FAM20A): c.1432C> T (p.Arg478Ter) single nucleotide variant Pathogenic rs139620139 GRCh38 Chromosome 17, 68537671: 68537671
17 FAM20A NM_017565.3(FAM20A): c.612delC (p.Leu205Cysfs) deletion Pathogenic rs587777531 GRCh37 Chromosome 17, 66550946: 66550946
18 FAM20A NM_017565.3(FAM20A): c.612delC (p.Leu205Cysfs) deletion Pathogenic rs587777531 GRCh38 Chromosome 17, 68554805: 68554805

Expression for Amelogenesis Imperfecta, Type Ig

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

Pathways for Amelogenesis Imperfecta, Type Ig

GO Terms for Amelogenesis Imperfecta, Type Ig

Biological processes related to Amelogenesis Imperfecta, Type Ig according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.33 FAM20A FAM20C TKFC
2 biomineral tissue development GO:0031214 8.96 FAM20A FAM20C
3 enamel mineralization GO:0070166 8.62 FAM20A FAM20C

Molecular functions related to Amelogenesis Imperfecta, Type Ig according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphotransferase activity, alcohol group as acceptor GO:0016773 8.62 FAM20A FAM20C

Sources for Amelogenesis Imperfecta, Type Ig

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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