MCID: AML002
MIFTS: 45

Amelogenesis Imperfecta malady

Genetic diseases, Rare diseases, Oral diseases, Nephrological diseases categories

Aliases & Classifications for Amelogenesis Imperfecta

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Sources:
32LifeMap Discovery®, 10Disease Ontology, 68Wikipedia, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 29ICD9CM, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Amelogenesis Imperfecta:

Name: Amelogenesis Imperfecta 32 10 68 45 23 47 12 51 36
Congenital Enamel Hypoplasia 23
 
Aortic Valve Insufficiency 65
Ai 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
amelogenesis imperfecta:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked dominant,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:2187
MeSH36 D000567
ICD9CM29 520.5
Orphanet51 88661
SNOMED-CT59 78494001
UMLS via Orphanet66 C0002452
ICD10 via Orphanet28 K00.5
MESH via Orphanet37 D000567

Summaries for Amelogenesis Imperfecta

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NIH Rare Diseases:45 Amelogenesis imperfecta (ai) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. this condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. these dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. there are 4 main types of ai that are classified based on the type of enamel defect. these 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. ai can be inherited in an autosomal dominant, autosomal recessive or x-linked recessive pattern. last updated: 12/12/2013

MalaCards based summary: Amelogenesis Imperfecta, also known as congenital enamel hypoplasia, is related to amelogenesis imperfecta hypoplastic type, ig and dentinogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta is ENAM (Enamelin), and among its related pathways are Alpha6-Beta4 Integrin Signaling Pathway and Collagen biosynthesis and modifying enzymes. Affiliated tissues include skin and kidney, and related mouse phenotype craniofacial.

Disease Ontology:10 A dental enamel hypoplasia characterized by abnormal enamel formation.

Genetics Home Reference:23 Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.

Wikipedia:68 Amelogenesis imperfecta (AI) presents with a rare abnormal formation of the enamel or external layer of... more...

Related Diseases for Amelogenesis Imperfecta

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Diseases in the Amelogenesis Imperfecta family:

Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Ih
Amelogenesis Imperfecta, Type if Amelogenesis Imperfecta, Type Ib
Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Iii
Amelogenesis Imperfecta, Type Iv Amelogenesis Imperfecta, Type Ig
Amelogenesis Imperfecta, Type 1e

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

(show top 50)    (show all 328)
idRelated DiseaseScoreTop Affiliating Genes
1amelogenesis imperfecta hypoplastic type, ig31.0AMELX, C4orf26, KLK4, MMP20, SLC24A4, WDR72
2dentinogenesis imperfecta31.0DSPP, ENAM
3dental enamel hypoplasia30.5AMELX, DSPP, ENAM, TUFT1
4movement disease28.8AMBN, AMELX, C4orf26, CNNM4, DLX3, DSPP
5hypoplastic amelogenesis imperfecta10.9
6hypocalcified amelogenesis imperfecta10.9
7amelogenesis imperfecta, type iv10.8
8amelogenesis imperfecta, type 1e10.8
9jalili syndrome10.8
10amelogenesis imperfecta, type iii10.8
11amelogenesis imperfecta, type iia110.8
12taurodontism10.8
13amelogenesis imperfecta, type ib10.7
14amelogenesis imperfecta, type ig10.7
15amelogenesis imperfecta, type ic10.7
16amelogenesis imperfecta, type iia210.7
17amelogenesis imperfecta, type ia10.7
18amelogenesis imperfecta, type if10.7
19amelogenesis imperfecta, type iia310.7
20nephrocalcinosis10.7
21amelogenesis imperfecta, type iia410.7
22gingivitis10.7
23amelogenesis imperfecta, type ih10.6
24amelogenesis imperfecta, type iia510.6
25cone-rod dystrophy10.6
26amelogenesis imperfecta hypomaturation type10.6
27amyloidosis10.6
28kohlschutter-tonz syndrome10.5
29amelogenesis imperfecta local hypoplastic10.5
30amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 210.5
31breast cancer10.5
32cerebritis10.5
33dental anomalies and short stature10.5
34periodontitis10.5
35brachyolmia-amelogenesis imperfecta syndrome10.5
36atherosclerosis10.5
37neuronitis10.5
38li-fraumeni syndrome10.4
39breast disease10.4
40dentin dysplasia10.4
41dementia10.4
42amelogenesis imperfecta pigmented hypomaturation type10.4
43verloes bourguignon syndrome10.4
44amelogenesis imperfecta-gingival hyperplasia syndrome10.4
45trichodysplasia - amelogenesis imperfecta10.4
46alzheimer disease10.4
47artery disease10.4
48adolescent idiopathic scoliosis10.4
49coronary artery disease10.4
50idiopathic scoliosis10.4

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



Diseases related to amelogenesis imperfecta

Symptoms for Amelogenesis Imperfecta

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Drugs & Therapeutics for Amelogenesis Imperfecta

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Factors of Genetic Susceptibility Associated to Severe Caries PhenotypeCompletedNCT00541060
2Amelogenesis ImperfectaRecruitingNCT01746121
3Orodental Manifestations of Rare DiseasesRecruitingNCT02397824

Search NIH Clinical Center for Amelogenesis Imperfecta


Cochrane evidence based reviews: Amelogenesis Imperfecta

Genetic Tests for Amelogenesis Imperfecta

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Anatomical Context for Amelogenesis Imperfecta

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MalaCards organs/tissues related to Amelogenesis Imperfecta:

33
Skin, Kidney

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Amelogenesis Imperfecta:
id TissueAnatomical CompartmentCell Relevance
1 ToothDental EnamelAmeloblasts Affected by disease
2 ToothDental EnamelEarly Ameloblasts Affected by disease

Animal Models for Amelogenesis Imperfecta or affiliated genes

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MGI Mouse Phenotypes related to Amelogenesis Imperfecta:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9AMBN, AMELX, DSPP, ENAM, FAM20A, KLK4

Publications for Amelogenesis Imperfecta

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Articles related to Amelogenesis Imperfecta:

(show top 50)    (show all 441)
idTitleAuthorsYear
1
Congenital adrenal hyperplasia with localized aggressive periodontitis and amelogenesis imperfecta. (26191638)
2015
2
Unusual extrinsic staining following microabrasion in a girl with amelogenesis imperfecta. (26508432)
2015
3
Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature. (25487982)
2015
4
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. (25669657)
2015
5
Interdisciplinary Care for a Patient with Amelogenesis Imperfecta: A Clinical Report. (25522047)
2014
6
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. (23375655)
2013
7
Phenotype-genotype correlations in mouse models of amelogenesis imperfecta caused by Amelx and Enam mutations. (22759786)
2012
8
Multiple unerupted teeth with amelogenesis imperfecta in siblings. (22655284)
2012
9
Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6. (23251683)
2012
10
Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry. (21127961)
2011
11
Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype-phenotype correlations. (20298654)
2010
12
Interdisciplinary treatment of a patient with amelogenesis imperfecta. (21280548)
2010
13
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. (19200527)
2009
14
Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta. (19530186)
2009
15
Clinical success of deproteinization in hypocalcified amelogenesis imperfecta. (19169442)
2009
16
Amelogenesis imperfecta: Report of a case and review of literature. (21887005)
2009
17
Rehabilitation of a patient with amelogenesis imperfecta using all-ceramic crowns: a clinical report. (17692589)
2007
18
Amelogenesis imperfecta. (17408482)
2007
19
Acid-etching effects in hypomineralized amelogenesis imperfecta. A microscopic and microanalytical study. (16388292)
2006
20
Oral rehabilitation of a young adult with hypoplastic amelogenesis imperfecta: a clinical report. (16399268)
2006
21
Effect of deproteinization on composite bond strength in hypocalcified amelogenesis imperfecta. (16700741)
2006
22
ENAM mutations in autosomal-dominant amelogenesis imperfecta. (15723871)
2005
23
Genes and related proteins involved in amelogenesis imperfecta. (16304440)
2005
24
Amelogenesis imperfecta. (15119723)
2004
25
Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. (12952177)
2003
26
Inheritance pattern and elemental composition of enamel affected by hypomaturation amelogenesis imperfecta. (12489199)
2002
27
Amelogenesis imperfecta with growth hormone deficiency in a 12 year-old boy. (12014527)
2002
28
Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype. (12393861)
2002
29
Amelogenesis imperfecta: a scanning electron microscopic and histopathologic study. (12175124)
2002
30
Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. (12407086)
2002
31
A case of amelogenesis imperfecta of deciduous and all permanent teeth. (11484794)
2001
32
Mutational analysis of X-linked amelogenesis imperfecta in multiple families. (10669095)
2000
33
Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. (11037750)
2000
34
Immunochemical and biochemical characteristics of enamel proteins in hypocalcified amelogenesis imperfecta. (9574951)
1998
35
The effects of acid-etching on enamel from different clinical variants of amelogenesis imperfecta: an SEM study. (9524971)
1998
36
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome. (7554924)
1995
37
Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta. (8375104)
1993
38
Trichodysplasia and amelogenesis imperfecta. (8419879)
1993
39
Scanning electron microscopic study of primary teeth in X-linked amelogenesis imperfecta. (1602411)
1992
40
X-linked (recessive) hypomaturation amelogenesis imperfecta: a prosthodontic, genetic, and histopathologic report. (1800740)
1991
41
Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis. (1967204)
1990
42
Asymmetrical tooth defects observed in hypoplastic primary teeth and amelogenesis imperfecta: case reports. (3475684)
1987
43
Hereditary amelogenesis imperfecta. An epidemiological, genetic and clinical study in a Swedish child population. (3460191)
1986
44
Hereditary amelogenesis imperfecta. I. Oral health in children. (3466378)
1986
45
Amelogenesis imperfecta--a method of rehabilitation. (6391971)
1984
46
The treatment of hypocalcified amelogenesis imperfecta in a young adolescent. (6596421)
1984
47
X-linked hypomaturation amelogenesis imperfecta: a case report. (6932309)
1980
48
The management of children and adolescents suffering from amelogenesis imperfecta and dentinogenesis imperfecta. (4280388)
1974
49
Amelogenesis imperfecta: report of a case. (5280290)
1971
50
A mineralized cuticular structure with connective tissue characteristics on the crowns of human unerupted teeth in amelogenesis imperfecta. A light and electron microscopic study. (4226808)
1967

Variations for Amelogenesis Imperfecta

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Clinvar genetic disease variations for Amelogenesis Imperfecta:

5 (show all 52)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_001287242.1(ARHGAP6): c.49-45951_49-41228deldeletionPathogenicGRCh37Chr X, 11314055: 11318781
2NM_182680.1(AMELX): c.155delC (p.Pro52Leufs)deletionPathogenicrs387906487GRCh38Chr X, 11298246: 11298246
3NM_182680.1(AMELX): c.14_22delTTTTATTTG (p.Ile5_Ala8delinsThr)deletionPathogenicrs387906488GRCh37Chr X, 11312922: 11312930
4NM_182680.1(AMELX): c.473delC (p.Pro158Hisfs)deletionPathogenicrs387906489GRCh37Chr X, 11316954: 11316954
5NM_182680.1(AMELX): c.152C> T (p.Thr51Ile)single nucleotide variantPathogenicrs104894733GRCh37Chr X, 11316363: 11316363
6NM_182680.1(AMELX): c.571G> T (p.Glu191Ter)single nucleotide variantPathogenicrs104894734GRCh37Chr X, 11317052: 11317052
7NM_182680.1(AMELX): c.208C> A (p.Pro70Thr)single nucleotide variantPathogenicrs104894736GRCh37Chr X, 11316689: 11316689
8NM_182680.1(AMELX): c.541delC (p.Leu181Cysfs)deletionPathogenicrs387906490GRCh37Chr X, 11317022: 11317022
9NM_182680.1(AMELX): c.420delC (p.Tyr141Thrfs)deletionPathogenicrs387906491GRCh37Chr X, 11316901: 11316901
10NM_182680.1(AMELX): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs104894737GRCh37Chr X, 11312910: 11312910
11NM_182680.1(AMELX): c.11G> C (p.Trp4Ser)single nucleotide variantPathogenicrs104894738GRCh37Chr X, 11312919: 11312919
12MMP20NM_004771.3(MMP20): c.678T> A (p.His226Gln)single nucleotide variantPathogenicrs587777515GRCh38Chr 11, 102609070: 102609070
13MMP20NM_004771.3(MMP20): c.102G> A (p.Trp34Ter)single nucleotide variantPathogenicrs587777516GRCh38Chr 11, 102625218: 102625218
14SLC24A4NM_153648.3(SLC24A4): c.823C> T (p.Arg275Ter)single nucleotide variantPathogenicrs587777535GRCh37Chr 14, 92920378: 92920378
15SLC24A4NM_153648.3(SLC24A4): c.1303A> T (p.Ser435Cys)single nucleotide variantPathogenicrs587777536GRCh37Chr 14, 92953082: 92953082
16SLC24A4NM_153648.3(SLC24A4): c.245C> T (p.Ala82Val)single nucleotide variantPathogenicrs587777537GRCh37Chr 14, 92908476: 92908476
17WDR72NM_182758.3(WDR72): c.1467_1468delAT (p.Val491Aspfs)deletionPathogenicrs606231462GRCh38Chr 15, 53702235: 53702236
18LAMB3LAMB3, 8-BP DEL, NT3446deletionPathogenic
19LAMB3LAMB3, SER1144TERsingle nucleotide variantPathogenic
20LAMB3NM_000228.2(LAMB3): c.3394dupG (p.Glu1132Glyfs)duplicationPathogenicrs786201004GRCh37Chr 1, 209788741: 209788741
21ITGB6NM_000888.4(ITGB6): c.427G> A (p.Ala143Thr)single nucleotide variantPathogenicrs140015315GRCh38Chr 2, 160195535: 160195535
22ITGB6NM_000888.4(ITGB6): c.825T> A (p.His275Gln)single nucleotide variantPathogenicrs730882118GRCh37Chr 2, 161029176: 161029176
23ITGB6NM_000888.4(ITGB6): c.1846C> T (p.Arg616Ter)single nucleotide variantPathogenicrs730880297GRCh37Chr 2, 160982927: 160982927
24ITGB6NM_000888.4(ITGB6): c.586C> A (p.Pro196Thr)single nucleotide variantPathogenicrs730880298GRCh37Chr 2, 161051887: 161051887
25AMBNNC_000004.12: g.70599785_70602132deldeletionPathogenicGRCh38Chr 4, 70599785: 70602132
26KLK4NM_004917.4(KLK4): c.245delG (p.Gly82Alafs)deletionPathogenicrs786204825GRCh38Chr 19, 50908809: 50908809
27MMP20NM_004771.3(MMP20): c.611A> G (p.His204Arg)single nucleotide variantPathogenicrs786204826GRCh38Chr 11, 102609943: 102609943
28WDR72NM_182758.3(WDR72): c.2348C> G (p.Ser783Ter)single nucleotide variantPathogenicrs267607178GRCh37Chr 15, 53908055: 53908055
29WDR72NM_182758.3(WDR72): c.2934G> A (p.Trp978Ter)single nucleotide variantPathogenicrs143816093GRCh37Chr 15, 53901728: 53901728
30WDR72NM_182758.3(WDR72): c.2857delA (p.Ser953Valfs)deletionPathogenicrs606231351GRCh37Chr 15, 53905878: 53905878
31FAM83HNM_198488.3(FAM83H): c.1366C> T (p.Gln456Ter)single nucleotide variantPathogenicrs387907056GRCh37Chr 8, 144810265: 144810265
32C4orf26C4ORF26, ARG77TERsingle nucleotide variantPathogenic
33C4orf26C4ORF26, CYS43TERsingle nucleotide variantPathogenic
34C4orf26C4ORF26, IVS1AS, A-T, -2single nucleotide variantPathogenic
35C4orf26NM_178497.3(C4orf26): c.318G> Asingle nucleotide variantPathogenicrs146645381GRCh37Chr 4, 76489574: 76489574
36C4orf26C4ORF26, 6-BP DEL/16-BP INS, NT51indelPathogenic
37ENAMNM_031889.2(ENAM): c.534+1G> Asingle nucleotide variantPathogenicrs587776587GRCh37Chr 4, 71501612: 71501612
38ENAMNM_031889.2(ENAM): c.157A> T (p.Lys53Ter)single nucleotide variantPathogenicrs121908109GRCh37Chr 4, 71497599: 71497599
39ENAMNM_031889.2(ENAM): c.1259_1260insAG (p.Pro422Valfs)insertionLikely pathogenic, Pathogenicrs587776588GRCh38Chr 4, 70642685: 70642686
40MMP20NM_004771.3(MMP20): c.954-2A> Tsingle nucleotide variantPathogenicrs140213840GRCh38Chr 11, 102594759: 102594759
41KLK4NM_004917.4(KLK4): c.458G> A (p.Trp153Ter)single nucleotide variantPathogenicrs104894704GRCh37Chr 19, 51411852: 51411852
42FAM83HNM_198488.3(FAM83H): c.973C> T (p.Arg325Ter)single nucleotide variantPathogenicrs137854435GRCh37Chr 8, 144810658: 144810658
43FAM83HNM_198488.3(FAM83H): c.1192C> T (p.Gln398Ter)single nucleotide variantPathogenicrs137854436GRCh37Chr 8, 144810439: 144810439
44FAM83HNM_198488.3(FAM83H): c.1243G> T (p.Glu415Ter)single nucleotide variantPathogenicrs137854437GRCh37Chr 8, 144810388: 144810388
45FAM83HNM_198488.3(FAM83H): c.891T> A (p.Tyr297Ter)single nucleotide variantPathogenicrs137854438GRCh37Chr 8, 144810740: 144810740
46FAM83HNM_198488.3(FAM83H): c.1380G> A (p.Trp460Ter)single nucleotide variantPathogenicrs137854439GRCh37Chr 8, 144810251: 144810251
47FAM83HNM_198488.3(FAM83H): c.2029C> T (p.Gln677Ter)single nucleotide variantPathogenicrs137854440GRCh37Chr 8, 144809602: 144809602
48FAM83HNM_198488.3(FAM83H): c.1408C> T (p.Gln470Ter)single nucleotide variantPathogenicrs137854441GRCh37Chr 8, 144810223: 144810223
49FAM83HNM_198488.3(FAM83H): c.860C> A (p.Ser287Ter)single nucleotide variantPathogenicrs137854442GRCh37Chr 8, 144810771: 144810771
50FAM83HNM_198488.3(FAM83H): c.923_924delTC (p.Leu308Argfs)deletionPathogenicrs796065023GRCh38Chr 8, 143728537: 143728538
51FAM83HNM_198488.3(FAM83H): c.1379G> A (p.Trp460Ter)single nucleotide variantPathogenicrs137854444GRCh37Chr 8, 144810252: 144810252
52DLX3NM_005220.2(DLX3): c.561_562delCT (p.Tyr188Glnfs)deletionPathogenicrs387906406GRCh37Chr 17, 48069183: 48069184

Expression for genes affiliated with Amelogenesis Imperfecta

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Search GEO for disease gene expression data for Amelogenesis Imperfecta.

Pathways for genes affiliated with Amelogenesis Imperfecta

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GO Terms for genes affiliated with Amelogenesis Imperfecta

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Cellular components related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.3AMBN, AMELX, AMELY, DSPP, ENAM, MMP20
2extracellular regionGO:00055769.1C4orf26, COL17A1, DSPP, KLK4, LAMB3, MMP20

Biological processes related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1amelogenesisGO:009718610.4ENAM, KLK4, MMP20, SLC24A4
2hemidesmosome assemblyGO:003158110.4COL17A1, LAMB3
3enamel mineralizationGO:007016610.4AMELX, CNNM4, FAM20A
4odontogenesis of dentin-containing toothGO:00424759.9AMBN, AMELX, DLX3, ENAM, ROGDI
5biomineral tissue developmentGO:00312149.7AMBN, AMELX, AMELY, DSPP, ENAM, FAM20A
6extracellular matrix disassemblyGO:00226179.7COL17A1, KLK4, LAMB3, MMP20
7extracellular matrix organizationGO:00301989.5COL17A1, DSPP, ITGB6, LAMB3, MMP20

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of tooth enamelGO:00303459.6AMBN, AMELX, AMELY, TUFT1

Sources for Amelogenesis Imperfecta

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet