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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³ 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

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

MeSH ⁴⁴ D000567 D005351

SNOMED-CT via HPO ⁶⁹ 258211005 236423003 42399005 more

UMLS ⁷³ C2931783

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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.

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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 2a1

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

(show all 19)

#	Related Disease	Score	Top Affiliating Genes
1	fibromatosis, gingival, 1	12.5
2	fibromatosis, gingival, 5	12.4
3	fibromatosis, gingival, 2	12.2
4	fibromatosis, gingival, 3	12.2
5	fibromatosis, gingival, 4	12.2
6	fibromatosis, gingival, with progressive deafness	12.1
7	fibromatosis, gingival, with distinctive facies	12.1
8	fibromatosis, gingival, with hypertrichosis and mental retardation	12.1
9	epithelial recurrent erosion dystrophy	11.8
10	gingival fibromatosis	11.8
11	zimmermann-laband syndrome 1	11.3
12	atherosclerosis susceptibility	11.2
13	estrogen resistance	11.2
14	hypertrichosis, congenital generalized, with or without gingival hyperplasia	11.1
15	amelogenesis imperfecta hypoplastic type, ig	10.9
16	fibromatosis	10.3
17	gingivitis	10.2
18	robinow syndrome, autosomal recessive	9.7	LMBR1 PTCHD3
19	robinow syndrome	9.5	LMBR1 PTCHD3

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

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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

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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 ²⁹	FAM20A

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Anatomical Context for Amelogenesis Imperfecta, Type Ig

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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 )	PA-go S.P....Martelli-JA_nior H.	2017
2	Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report. ( 26389061 )	Bhesania D....Kapoor S.	2015
3	FAM20A mutations associated with enamel renal syndrome. ( 24196488 )	Wang S.K....Hu J.C.	2014
4	FAM20A mutations can cause enamel-renal syndrome (ERS). ( 23468644 )	Wang S.K....Hu J.C.	2013
5	Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. ( 23434854 )	Jaureguiberry G....Kleta R.	2012

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Genes for Amelogenesis Imperfecta, Type Ig

Genes related to Amelogenesis Imperfecta, Type Ig (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FAM20A	FAM20A, Golgi Associated Secretory Pathway Pseudokinase	Protein Coding	1668.93	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)	18597613 21549343 23434854 (more) 21990045 23468644 24196488
2	LMBR1	Limb Development Membrane Protein 1	Protein Coding	17.55	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	DMXL1	Dmx Like 1	Protein Coding	16	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	PTCHD3	Patched Domain Containing 3	Protein Coding	15.76	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	TKFC	Triokinase And FMN Cyclase	Protein Coding	15.54	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	TENM4	Teneurin Transmembrane Protein 4	Protein Coding	15.49	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	FAM20C	FAM20C, Golgi Associated Secretory Pathway Kinase	Protein Coding	15.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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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

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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	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

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