ERS
MCID: AML006
MIFTS: 21

Amelogenesis Imperfecta Hypoplastic Type, Ig (ERS)

Categories: Metabolic diseases, Nephrological diseases, Oral diseases, Rare diseases

Aliases & Classifications for Amelogenesis Imperfecta Hypoplastic Type, Ig

MalaCards integrated aliases for Amelogenesis Imperfecta Hypoplastic Type, Ig:

Name: Amelogenesis Imperfecta Hypoplastic Type, Ig 20
Amelogenesis Imperfecta and Nephrocalcinosis 20 6
Amelogenesis Imperfecta Nephrocalcinosis 20 71
Absent Enamel, Nephrocalcinosis and Apparently Normal Calcium Metabolism 20
Generalized Enamel Hypoplasia and Renal Dysfunction 20
Enamel-Renal Syndrome 20
Enamel Renal Syndrome 20
Ai1g 20
Ers 20

Classifications:



External Ids:

UMLS 71 C2931783

Summaries for Amelogenesis Imperfecta Hypoplastic Type, Ig

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1031DefinitionA extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.Visit the Orphanet disease page for more resources.

MalaCards based summary : Amelogenesis Imperfecta Hypoplastic Type, Ig, also known as amelogenesis imperfecta and nephrocalcinosis, is related to amelogenesis imperfecta, type ig and idiopathic interstitial pneumonia, and has symptoms including polyuria An important gene associated with Amelogenesis Imperfecta Hypoplastic Type, Ig is FAM20A (FAM20A Golgi Associated Secretory Pathway Pseudokinase).

Related Diseases for Amelogenesis Imperfecta Hypoplastic Type, Ig

Diseases in the Hypoplastic Amelogenesis Imperfecta family:

Amelogenesis Imperfecta Hypoplastic Type, Ig

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

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type ig 11.3
2 idiopathic interstitial pneumonia 11.0
3 lung cancer susceptibility 3 10.6
4 adenocarcinoma 10.6
5 nephrocalcinosis 10.5
6 amelogenesis imperfecta 10.5
7 pulmonary hypertension 10.4
8 adenocarcinoma in situ 10.4
9 lung disease 10.4
10 pulmonary fibrosis 10.4
11 pulmonary fibrosis, idiopathic 10.3
12 interstitial lung disease 10.3
13 mycobacterium tuberculosis 1 10.2
14 pulmonary hypertension, primary, 1 10.2
15 autosomal recessive disease 10.2
16 gingival fibromatosis 10.2
17 fibromatosis 10.2
18 bronchiectasis 10.2
19 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
20 lung cancer 10.2
21 pulmonary disease, chronic obstructive 10.2
22 sarcoidosis 1 10.2
23 bronchiolo-alveolar adenocarcinoma 10.2
24 fibrosis of extraocular muscles, congenital, 1 10.1
25 mucinous adenocarcinoma 10.1
26 appendix adenocarcinoma 10.1
27 respiratory failure 10.1
28 benign mesothelioma 10.1
29 bronchiolitis 10.1
30 pulmonary embolism 10.1
31 hypogonadism-cataract syndrome 10.1
32 gingival overgrowth 10.1
33 nephrolithiasis 10.1
34 bronchiolitis obliterans 10.0
35 pneumonia 10.0
36 pulmonary fibrosis, familial 10.0
37 bronchomalacia 10.0
38 tracheomalacia 10.0
39 non-alcoholic fatty liver disease 10.0
40 nonspecific interstitial pneumonia 10.0
41 ischemia 10.0
42 bronchitis 10.0
43 malignant pleural mesothelioma 10.0
44 mycobacterium abscessus 10.0
45 mycobacterium kansasii 10.0
46 mycobacterium xenopi 10.0
47 myoclonus 10.0
48 hair whorl 9.9
49 asthma 9.9
50 alacrima, achalasia, and mental retardation syndrome 9.9

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



Diseases related to Amelogenesis Imperfecta Hypoplastic Type, Ig

Symptoms & Phenotypes for Amelogenesis Imperfecta Hypoplastic Type, Ig

UMLS symptoms related to Amelogenesis Imperfecta Hypoplastic Type, Ig:


polyuria

Drugs & Therapeutics for Amelogenesis Imperfecta Hypoplastic Type, Ig

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

Genetic Tests for Amelogenesis Imperfecta Hypoplastic Type, Ig

Anatomical Context for Amelogenesis Imperfecta Hypoplastic Type, Ig

Publications for Amelogenesis Imperfecta Hypoplastic Type, Ig

Articles related to Amelogenesis Imperfecta Hypoplastic Type, Ig:

# Title Authors PMID Year
1
FAM20A mutations associated with enamel renal syndrome. 6
24196488 2014
2
FAM20A mutations can cause enamel-renal syndrome (ERS). 6
23468644 2013
3
Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. 6
21990045 2012
4
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. 6
23434854 2012
5
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. 6
21549343 2011
6
Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. 6
18597613 2008
7
Enamel renal syndrome: a rare case report. 61
22918105 2012
8
Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. 61
9870488 1998
9
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome. 61
7554924 1995
10
Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. 61
3872071 1985

Variations for Amelogenesis Imperfecta Hypoplastic Type, Ig

ClinVar genetic disease variations for Amelogenesis Imperfecta Hypoplastic Type, Ig:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAM20A NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter) SNV Pathogenic 30879 rs144411158 17:66551883-66551883 17:68555742-68555742
2 FAM20A NM_017565.4(FAM20A):c.813-2A>G SNV Pathogenic 35476 rs587776912 17:66538952-66538952 17:68542811-68542811
3 FAM20A NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs) Deletion Pathogenic 35477 rs587776913 17:66537030-66537034 17:68540889-68540893
4 FAM20A NM_017565.4(FAM20A):c.590-2A>G SNV Pathogenic 35478 rs587776914 17:66550970-66550970 17:68554829-68554829
5 FAM20A NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) SNV Pathogenic 35479 rs387907215 17:66538937-66538937 17:68542796-68542796
6 FAM20A NM_017565.4(FAM20A):c.720-2A>G SNV Pathogenic 139648 rs587777530 17:66539864-66539864 17:68543723-68543723
7 FAM20A NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter) SNV Pathogenic 139649 rs139620139 17:66533812-66533812 17:68537671-68537671
8 FAM20A NM_017565.4(FAM20A):c.612del (p.Leu205fs) Deletion Pathogenic 139650 rs587777531 17:66550946-66550946 17:68554805-68554805
9 FAM20A NM_017565.4(FAM20A):c.32_33CT[1] (p.Leu12fs) Microsatellite Pathogenic 35475 rs587776911 17:66596773-66596774 17:68600632-68600633
10 FAM20A NM_017565.4(FAM20A):c.1219+3_1219+6del Microsatellite Likely pathogenic 873033 17:66536984-66536987 17:68540843-68540846
11 FAM20A NM_017565.4(FAM20A):c.885del (p.Thr296fs) Deletion Likely pathogenic 587516 rs1568724130 17:66538878-66538878 17:68542737-68542737

Expression for Amelogenesis Imperfecta Hypoplastic Type, Ig

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

Pathways for Amelogenesis Imperfecta Hypoplastic Type, Ig

GO Terms for Amelogenesis Imperfecta Hypoplastic Type, Ig

Sources for Amelogenesis Imperfecta Hypoplastic Type, Ig

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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