ERS
MCID: AML006
MIFTS: 18

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 52
Amelogenesis Imperfecta Nephrocalcinosis 52 71
Absent Enamel, Nephrocalcinosis and Apparently Normal Calcium Metabolism 52
Generalized Enamel Hypoplasia and Renal Dysfunction 52
Amelogenesis Imperfecta and Nephrocalcinosis 52
Enamel-Renal Syndrome 52
Enamel Renal Syndrome 52
Ai1g 52
Ers 52

Classifications:



External Ids:

UMLS 71 C2931783

Summaries for Amelogenesis Imperfecta Hypoplastic Type, Ig

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1031 Definition A 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 nephrocalcinosis, is related to epithelial recurrent erosion dystrophy and amelogenesis imperfecta, type ig, and has symptoms including polyuria

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 1078)
# Related Disease Score Top Affiliating Genes
1 epithelial recurrent erosion dystrophy 12.2
2 amelogenesis imperfecta, type ig 11.6
3 breast cancer 11.6
4 alzheimer disease 11.5
5 atherosclerosis susceptibility 11.4
6 idiopathic interstitial pneumonia 11.4
7 estrogen resistance 11.4
8 marinesco-sjogren syndrome 11.4
9 coronary heart disease 1 11.4
10 factor v and factor viii, combined deficiency of, 1 11.4
11 muscular dystrophy, congenital, lmna-related 11.4
12 deafness, dystonia, and cerebral hypomyelination 11.3
13 congenital disorder of glycosylation, type ik 11.3
14 epidermodysplasia verruciformis 1 11.1
15 cerebellar atrophy, visual impairment, and psychomotor retardation 11.1
16 peripheral vascular disease 11.1
17 luminal breast carcinoma a 11.1
18 luminal breast carcinoma b 11.1
19 nephrocalcinosis 10.5
20 amelogenesis imperfecta 10.5
21 adenocarcinoma 10.4
22 lung cancer susceptibility 3 10.4
23 amyotrophic lateral sclerosis 1 10.4
24 lateral sclerosis 10.4
25 endometrial cancer 10.4
26 fatty liver disease, nonalcoholic 1 10.4
27 fatty liver disease 10.4
28 periodontitis 10.4
29 neuroblastoma 10.3
30 polykaryocytosis inducer 10.3
31 stomatitis 10.3
32 non-alcoholic fatty liver disease 10.3
33 autosomal recessive disease 10.3
34 gingival fibromatosis 10.3
35 fibromatosis 10.3
36 lung disease 10.3
37 hepatocellular carcinoma 10.3
38 ovarian cancer 10.3
39 triiodothyronine receptor auxiliary protein 10.3
40 periodontitis, chronic 10.3
41 dowling-degos disease 1 10.3
42 in situ carcinoma 10.3
43 hyperglycemia 10.2
44 b-cell lymphoma 10.2
45 colorectal cancer 10.2
46 pulmonary fibrosis 10.2
47 ductal carcinoma in situ 10.2
48 prostate cancer 10.2
49 depression 10.2
50 mental depression 10.2

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
Enamel renal syndrome: a rare case report. 61
22918105 2012
2
Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. 61
9870488 1998
3
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome. 61
7554924 1995
4
Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. 61
3872071 1985

Variations for Amelogenesis Imperfecta Hypoplastic Type, Ig

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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