AI1G
MCID: AML044
MIFTS: 42

Amelogenesis Imperfecta, Type Ig (AI1G)

Categories: Genetic diseases, Nephrological 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 58 41
Enamel-Renal Syndrome 58 12 76 30 6
Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome 58 12 76 13
Enamel-Renal-Gingival Syndrome 58 12 76
Aigfs 58 12 76
Ai1g 58 12 76
Ers 58 12 76
Amelogenesis Imperfecta Type 1g 12 15
Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome; Aigfs 58
Amelogenesis Imperfecta, Hypoplastic, with Nephrocalcinosis 58
Amelogenesis Imperfecta Hypoplastic with Nephrocalcinosis 12
Hypoplastic Amelogenesis Imperfecta with Nephrocalcinosis 76
Amelogenesis Imperfecta Nephrocalcinosis 74
Amelogenesis Imperfecta Type Ig 12
Enamel-Renal Syndrome; Ers 58
Amelogenesis Imperfecta 1g 76
Fibromatosis, Gingival 45

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable age of onset of renal manifestations


HPO:

33
amelogenesis imperfecta, type ig:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Amelogenesis Imperfecta, Type Ig

OMIM : 58 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 robinow syndrome and fibromatosis, gingival, 1, and has symptoms including polyuria An important gene associated with Amelogenesis Imperfecta, Type Ig is FAM20A (FAM20A Golgi Associated Secretory Pathway Pseudokinase). Affiliated tissues include heart, and related phenotypes are gingival overgrowth and nephropathy

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 : 76 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

Diseases in the Amelogenesis Imperfecta family:

Amelogenesis Imperfecta, Type Ib Amelogenesis Imperfecta, Type Iv
Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Iiia
Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Ig
Amelogenesis Imperfecta, Type Ie Amelogenesis Imperfecta, Type Ih
Amelogenesis Imperfecta, Type if Amelogenesis Imperfecta, Type Iiib
Amelogenesis Imperfecta Type 2a1

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

(show top 50) (show all 535)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome 28.7 HPSE LMBR1 PTCHD3
2 fibromatosis, gingival, 1 12.7
3 fibromatosis, gingival, 5 12.6
4 fibromatosis, gingival, 2 12.4
5 fibromatosis, gingival, 3 12.4
6 fibromatosis, gingival, 4 12.4
7 fibromatosis, gingival, with progressive deafness 12.3
8 fibromatosis, gingival, with distinctive facies 12.3
9 fibromatosis, gingival, with hypertrichosis and mental retardation 12.3
10 epithelial recurrent erosion dystrophy 12.0
11 gingival fibromatosis 12.0
12 zimmermann-laband syndrome 1 11.5
13 atherosclerosis susceptibility 11.3
14 estrogen resistance 11.3
15 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.3
16 congenital disorder of glycosylation, type ik 11.2
17 amelogenesis imperfecta hypoplastic type, ig 11.1
18 epidermodysplasia verruciformis 1 11.0
19 marinesco-sjogren syndrome 11.0
20 coronary heart disease 1 11.0
21 peripheral vascular disease 11.0
22 glyceraldehyde-3-phosphate dehydrogenase deficiency 11.0
23 breast cancer 10.9
24 horns in sheep 10.5
25 adenocarcinoma 10.4
26 sulfite oxidase deficiency due to molybdenum cofactor deficiency 10.4
27 fibromatosis 10.4
28 polymyositis 10.3
29 lung cancer susceptibility 3 10.3
30 spondyloenchondrodysplasia 10.3
31 endometrial cancer 10.2
32 diabetes mellitus, noninsulin-dependent 10.2
33 lung cancer 10.1
34 melanoma 10.1
35 ovarian cancer 10.1
36 amyotrophic lateral sclerosis 1 10.1
37 prostate cancer 10.1
38 prostate cancer, hereditary, 8 10.1
39 prostate cancer, hereditary, 6 10.1
40 fatty liver disease, nonalcoholic 1 10.1
41 lateral sclerosis 10.1
42 colorectal cancer 10.1
43 alzheimer disease 10.1
44 esterase c 10.1
45 pulmonary hypertension 10.1
46 hypoxia 10.1
47 periodontitis 10.1
48 depression 10.1
49 hepatocellular carcinoma 10.0
50 gastric cancer 10.0

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

Human phenotypes related to Amelogenesis Imperfecta, Type Ig:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 gingival overgrowth 33 hallmark (90%) HP:0000212
2 nephropathy 33 hallmark (90%) HP:0000112
3 delayed eruption of teeth 33 hallmark (90%) HP:0000684
4 nephrocalcinosis 33 hallmark (90%) HP:0000121
5 amelogenesis imperfecta 33 hallmark (90%) HP:0000705
6 yellow-brown discoloration of the teeth 33 hallmark (90%) HP:0006286
7 increased circulating osteocalcin level 33 hallmark (90%) HP:0031428
8 abnormality level of calcium-phosphate regulating hormone 33 hallmark (90%) HP:0100530
9 renal insufficiency 33 frequent (33%) HP:0000083
10 hypocalciuria 33 frequent (33%) HP:0003127
11 enuresis 33 frequent (33%) HP:0000805
12 impaired renal concentrating ability 33 frequent (33%) HP:0004727
13 hypophosphaturia 33 frequent (33%) HP:0012365
14 overgrowth 33 HP:0001548
15 delayed eruption of permanent teeth 33 HP:0000696
16 polyuria 33 HP:0000103
17 dagger-shaped pulp calcifications 33 HP:0006302

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Amelogenesis Imperfecta, Type Ig:


polyuria

MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Type Ig:

47
# 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 30 FAM20A

Anatomical Context for Amelogenesis Imperfecta, Type Ig

MalaCards organs/tissues related to Amelogenesis Imperfecta, Type Ig:

42
Heart

Publications for Amelogenesis Imperfecta, Type Ig

Articles related to Amelogenesis Imperfecta, Type Ig:

(show all 13)
# Title Authors Year
1
Prosthetic Rehabilitation of a Patient with Rare and Severe Enamel Renal Syndrome. ( 29166418 )
2018
2
Enamel-Renal-Syndrome: case report. ( 29672880 )
2018
3
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. ( 30394349 )
2018
4
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes. ( 28086997 )
2017
5
Enamel-renal syndrome with congenital heart defects and asthma: a rare association in a Moroccan child. ( 27541981 )
2017
6
Enamel Renal Syndrome: A Case History Report. ( 28085972 )
2017
7
Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report. ( 26389061 )
2015
8
FAM20A mutations associated with enamel renal syndrome. ( 24196488 )
2014
9
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. ( 24927635 )
2014
10
FAM20A mutations can cause enamel-renal syndrome (ERS). ( 23468644 )
2013
11
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. ( 23434854 )
2012
12
Enamel renal syndrome: a rare case report. ( 22918105 )
2012
13
Enamel-renal syndrome associated with hypokalaemic metabolic alkalosis and impaired renal concentration: a novel syndrome? ( 16799168 )
2006

Variations for Amelogenesis Imperfecta, Type Ig

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

76
# 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 20)
# 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
19 FAM20A NM_017565.3(FAM20A): c.885delC (p.Thr296Profs) deletion Likely pathogenic GRCh38 Chromosome 17, 68542737: 68542737
20 FAM20A NM_017565.3(FAM20A): c.885delC (p.Thr296Profs) deletion Likely pathogenic GRCh37 Chromosome 17, 66538878: 66538878

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 biomineral tissue development GO:0031214 8.96 FAM20A FAM20C
2 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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