Amelogenesis Imperfecta, Type Ig disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Oral diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the digestive system

Diseases of oral cavity, salivary glands and jaws

Disorders of tooth development and eruption

Hereditary disturbances in tooth structure, not elsewhere classified

External Ids:

Disease Ontology ¹² DOID:0110066

OMIM ⁵⁸ 204690

MeSH ⁴⁵ D000567 D005351

ICD10 ³⁴ K00.5

MedGen ⁴³ C2931783

SNOMED-CT via HPO ⁷⁰ 236423003 258211005 28442001 more

UMLS ⁷⁴ C2931783

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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, autosomal recessive and robinow syndrome, 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 breast, lung and liver, 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.

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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 Iiic	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 572)

#	Related Disease	Score	Top Affiliating Genes
1	robinow syndrome, autosomal recessive	28.9	HPSE LMBR1 PTCHD3
2	robinow syndrome	28.7	HPSE LMBR1 PTCHD3
3	fibromatosis, gingival, 1	12.7
4	fibromatosis, gingival, 5	12.7
5	fibromatosis, gingival, 2	12.4
6	fibromatosis, gingival, 3	12.4
7	fibromatosis, gingival, 4	12.4
8	fibromatosis, gingival, with progressive deafness	12.3
9	fibromatosis, gingival, with distinctive facies	12.3
10	fibromatosis, gingival, with hypertrichosis and mental retardation	12.3
11	epithelial recurrent erosion dystrophy	12.1
12	gingival fibromatosis	12.0
13	zimmermann-laband syndrome 1	11.5
14	atherosclerosis susceptibility	11.4
15	marinesco-sjogren syndrome	11.4
16	estrogen resistance	11.4
17	hypertrichosis, congenital generalized, with or without gingival hyperplasia	11.3
18	congenital disorder of glycosylation, type ik	11.2
19	amelogenesis imperfecta hypoplastic type, ig	11.1
20	epidermodysplasia verruciformis 1	11.0
21	coronary heart disease 1	11.0
22	peripheral vascular disease	11.0
23	glyceraldehyde-3-phosphate dehydrogenase deficiency	11.0
24	breast cancer	10.9
25	horns in sheep	10.5
26	adenocarcinoma	10.4
27	polymyositis	10.4
28	neutrophil migration	10.4
29	fibromatosis	10.3
30	lung cancer susceptibility 3	10.3
31	spondyloenchondrodysplasia	10.3
32	diabetes mellitus, noninsulin-dependent	10.2
33	endometrial cancer	10.2
34	lung cancer	10.1
35	colorectal cancer	10.1
36	melanoma	10.1
37	ovarian cancer	10.1
38	amyotrophic lateral sclerosis 1	10.1
39	prostate cancer	10.1
40	prostate cancer, hereditary, 8	10.1
41	prostate cancer, hereditary, 6	10.1
42	fatty liver disease, nonalcoholic 1	10.1
43	lateral sclerosis	10.1
44	alzheimer disease	10.1
45	esterase c	10.1
46	pulmonary hypertension	10.1
47	periodontitis	10.1
48	hypoxia	10.1
49	depression	10.1
50	hepatocellular carcinoma	10.0

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

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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	abnormal calcium-phosphate regulating hormone level ³³	hallmark (90%)	HP:0100530
9	renal insufficiency ³³	frequent (33%)	HP:0000083
10	enuresis ³³	frequent (33%)	HP:0000805
11	hypocalciuria ³³	frequent (33%)	HP:0003127
12	hypophosphaturia ³³	frequent (33%)	HP:0012365
13	impaired renal concentrating ability ³³	frequent (33%)	HP:0004727
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

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Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ig

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

Genetic tests related to Amelogenesis Imperfecta, Type Ig:

#	Genetic test	Affiliating Genes
1	Enamel-Renal Syndrome ³⁰	FAM20A

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Anatomical Context for Amelogenesis Imperfecta, Type Ig

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

⁴²

Breast, Lung, Liver, Bone, Heart, Brain, Kidney

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Publications for Amelogenesis Imperfecta, Type Ig

Articles related to Amelogenesis Imperfecta, Type Ig:

(show all 17)

#	Title	Authors	Year
1	Association of enamel-renal syndrome with sialolith: A rare entity. ( 30967741 )	Manoj V...Panjami M	2019
2	Prosthetic Rehabilitation of a Patient with Rare and Severe Enamel Renal Syndrome. ( 29166418 )	Mauprivez C...Naveau A	2018
3	Enamel-Renal-Syndrome: case report. ( 29672880 )	Torres LHS...de Barros LAP	2018
4	Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. ( 30394349 )	Dourado MR...Marques Mesquita AT	2018
5	Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes. ( 28086997 )	P?go SPB...Martelli-J?nior H	2017
6	Enamel-renal syndrome with congenital heart defects and asthma: a rare association in a Moroccan child. ( 27541981 )	Laouina S...El Alloussi M	2017
7	Enamel Renal Syndrome: A Case History Report. ( 28085972 )	Costa DC...Mesquita AT	2017
8	Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report. ( 26389061 )	Bhesania D...Kapoor S	2015
9	FAM20A mutations associated with enamel renal syndrome. ( 24196488 )	Wang SK...Hu JC	2014
10	Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. ( 24927635 )	de la Dure-Molla M...Bloch-Zupan A	2014
11	FAM20A mutations can cause enamel-renal syndrome (ERS). ( 23468644 )	Wang SK...Hu JC	2013
12	Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. ( 21990045 )	Cho SH...Kim JW	2012
13	Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. ( 23434854 )	Jaureguiberry G...Kleta R	2012
14	Enamel renal syndrome: a rare case report. ( 22918105 )	Kala Vani SV...Sankar YU	2012
15	Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. ( 21549343 )	O'Sullivan J...Dixon MJ	2011
16	Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. ( 18597613 )	Martelli-J?nior H...Coletta RD	2008
17	Enamel-renal syndrome associated with hypokalaemic metabolic alkalosis and impaired renal concentration: a novel syndrome? ( 16799168 )	Fu XJ...Matsuo M	2006

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Genes for Amelogenesis Imperfecta, Type Ig

Genes related to Amelogenesis Imperfecta, Type Ig (4 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FAM20A	FAM20A Golgi Associated Secretory Pathway Pseudokinase	Protein Coding	1318.9	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵	18597613 21549343 23434854 (more) 21990045 23468644 24196488
2	GINGF4	Gingival Fibromatosis, Hereditary, 4	Genetic Locus	50	MalaCards inferred ⁴²
3	GINGF3	Gingival Fibromatosis, Hereditary, 3	Genetic Locus	50	MalaCards inferred ⁴²
4	GINGF2	Gingival Fibromatosis, Hereditary, 2	Genetic Locus	50	MalaCards inferred ⁴²
5	LMBR1	Limb Development Membrane Protein 1	Protein Coding	17.46	DISEASES inferred ¹⁵
6	DMXL1	Dmx Like 1	Protein Coding	15.9	DISEASES inferred ¹⁵
7	PTCHD3	Patched Domain Containing 3	Protein Coding	15.61	DISEASES inferred ¹⁵
8	HPSE	Heparanase	Protein Coding	15.59	DISEASES inferred ¹⁵
9	FAM20C	FAM20C Golgi Associated Secretory Pathway Kinase	Protein Coding	15.38	DISEASES inferred ¹⁵
10	TKFC	Triokinase And FMN Cyclase	Protein Coding	15.26	DISEASES inferred ¹⁵
11	TENM4	Teneurin Transmembrane Protein 4	Protein Coding	15.22	DISEASES inferred ¹⁵
12	TMEM132D	Transmembrane Protein 132D	Protein Coding	15.05	DISEASES inferred ¹⁵
13	DGUOK	Deoxyguanosine Kinase	Protein Coding	14.71	DISEASES inferred ¹⁵

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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

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Expression for Amelogenesis Imperfecta, Type Ig

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

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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⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Amelogenesis Imperfecta, Type Ig (AI1G)

Aliases & Classifications for Amelogenesis Imperfecta, Type Ig

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ig:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Amelogenesis Imperfecta, Type Ig

Related Diseases for Amelogenesis Imperfecta, Type Ig

Diseases in the Amelogenesis Imperfecta family:

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

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

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ig

Human phenotypes related to Amelogenesis Imperfecta, Type Ig:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Amelogenesis Imperfecta, Type Ig:

MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Type Ig:

Drugs & Therapeutics 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:

Anatomical Context for Amelogenesis Imperfecta, Type Ig

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

Publications for Amelogenesis Imperfecta, Type Ig

Articles related to Amelogenesis Imperfecta, Type Ig:

Genes for Amelogenesis Imperfecta, Type Ig

Genes related to Amelogenesis Imperfecta, Type Ig (4 elite genes):

Variations for Amelogenesis Imperfecta, Type Ig

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

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ig:

Expression 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:

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

Sources for Amelogenesis Imperfecta, Type Ig