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AI1G
MCID: AML044
MIFTS: 45

Amelogenesis Imperfecta, Type Ig (AI1G)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Amelogenesis Imperfecta, Type Ig

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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
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
enamel-renal 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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Nephrological diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare renal diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


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
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Summaries for Amelogenesis Imperfecta, Type Ig

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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 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, lung and brain, and related phenotypes are gingival overgrowth and renal insufficiency

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.

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Related Diseases for Amelogenesis Imperfecta, Type Ig

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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 445)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome 28.7 HPSE LMBR1 PTCHD3
2 fibromatosis, gingival, 1 12.6
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 12.2
8 fibromatosis, gingival, with distinctive facies 12.2
9 fibromatosis, gingival, with hypertrichosis and mental retardation 12.2
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 11.2
16 congenital disorder of glycosylation, type ik 11.1
17 amelogenesis imperfecta hypoplastic type, ig 11.1
18 epidermodysplasia verruciformis 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 10.7
24 fibromatosis 10.4
25 adenocarcinoma 10.3
26 polymyositis 10.3
27 horns in sheep 10.3
28 lung cancer susceptibility 3 10.2
29 ovarian cancer 10.1
30 prostate cancer 10.1
31 lung cancer 10.1
32 endometrial cancer 10.1
33 melanoma 10.1
34 alzheimer disease 10.1
35 esterase c 10.1
36 pulmonary hypertension 10.1
37 amyotrophic lateral sclerosis 1 10.1
38 lateral sclerosis 10.1
39 hypoxia 10.0
40 gastric cancer 10.0
41 insulin-like growth factor i 10.0
42 fatty liver disease, nonalcoholic 1 10.0
43 periodontitis 10.0
44 colorectal cancer 10.0
45 hepatocellular carcinoma 10.0
46 asthma 10.0
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
48 amelogenesis imperfecta 10.0
49 nephrolithiasis 10.0
50 heart disease 10.0

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



Diseases related to Amelogenesis Imperfecta, Type Ig
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Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ig

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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
impaired renal concentrating ability
renal failure

Metabolic Features:
polyuria


Clinical features from OMIM:

204690

Human phenotypes related to Amelogenesis Imperfecta, Type Ig:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival overgrowth 59 32 Very frequent (99-80%) HP:0000212
2 renal insufficiency 59 32 Frequent (79-30%) HP:0000083
3 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
4 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
5 nephrocalcinosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000121
6 abnormality of calcium-phosphate metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0100530
7 amelogenesis imperfecta 59 32 hallmark (90%) Very frequent (99-80%) HP:0000705
8 yellow-brown discoloration of the teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006286
9 enuresis 59 32 Frequent (79-30%) HP:0000805
10 impaired renal concentrating ability 59 32 Frequent (79-30%) HP:0004727
11 abnormality of dental enamel 59 Very frequent (99-80%)
12 abnormality of dental color 59 Very frequent (99-80%)
13 overgrowth 32 HP:0001548
14 increased circulating osteocalcin level 59 Very frequent (99-80%)
15 hypocalciuria 59 Frequent (79-30%)
16 hypophosphaturia 59 Frequent (79-30%)
17 delayed eruption of permanent teeth 32 HP:0000696
18 polyuria 32 HP:0000103
19 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 9.02 FAM20A FAM20C HPSE LMBR1 TENM4
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Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ig

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

Cochrane evidence based reviews: fibromatosis, gingival

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Genetic Tests for Amelogenesis Imperfecta, Type Ig

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Genetic tests related to Amelogenesis Imperfecta, Type Ig:

# Genetic test Affiliating Genes
1 Enamel-Renal Syndrome 29 FAM20A
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Anatomical Context for Amelogenesis Imperfecta, Type Ig

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

41
Heart, Lung, Brain, Kidney, Liver, Breast, Ovary
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Publications for Amelogenesis Imperfecta, Type Ig

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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
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Variations for Amelogenesis Imperfecta, Type Ig

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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
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Expression for Amelogenesis Imperfecta, Type Ig

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

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GO Terms for Amelogenesis Imperfecta, Type Ig

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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
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Sources for Amelogenesis Imperfecta, Type Ig

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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