MCID: MNG001
MIFTS: 36

Mongolian Spot malady

Rare diseases, Neuronal diseases, Reproductive diseases, Cancer diseases, Oral diseases categories

Aliases & Classifications for Mongolian Spot

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Sources:
9Disease Ontology, 60UMLS, 11DISEASES, 41NIH Rare Diseases, 47Orphanet, 43Novoseek, 55SNOMED-CT, 38NCIt, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Mongolian Spot, Aliases & Descriptions:

Name: Mongolian Spot 9 11 60
Meige Syndrome 9 41 11 47 60
Meigs Syndrome 43 47 60
Pseudoxanthoma Elasticum 9 60
Keratosis Follicularis 9 60
Meige Dystonia 41 47
Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome 41
Integument Anomalies: Ichthyosis Congenita 9
Blepharospasm - Oromandibular Dystonia 47
Blepharospasm-Oromandibular Dystonia 41
Segmental Cranial Dystonia 41
 
Demons-Meigs Syndrome 47
Oral Facial Dystonia 41
Brueghel Syndrome 41
Meige's Syndrome 41
Mongolian Macula 9
Nevus Elasticus 60
Mongolian Spots 9
Congenital Nos 9
Milroy's 9
Darier's 9
Meige's 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
meigs syndrome:
Inheritance: Not applicable; Age of onset: Adult


External Ids:

Disease Ontology9 DOID:4702, DOID:3982
NCIt38 C3945
Orphanet47 314451, 93964
ICD10 via Orphanet26 D27, G24.8
UMLS via Orphanet61 C0025184

Summaries for Mongolian Spot

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NIH Rare Diseases:41 Meige syndrome is a rare, neurological condition characterized by blepharospasm (abnormal movement of the eyelids); oromandibular dystonia (spasms in the jaw and tongue); and sometimes, cervical dystonia. symptoms and severity can vary. the exact cause of meige syndrome is unknown, but researchers suspect that it is due to a combination of genetic and environmental factors. treatment focuses on each person's symptoms and may include drug therapy and/or botulinum a toxin (botox) injections. other treatment options, such as deep brain stimulation, are currently being considered. last updated: 2/17/2015

MalaCards based summary: Mongolian Spot, also known as meige syndrome, is related to pseudoxanthoma elasticum and keratosis. An important gene associated with Mongolian Spot is ABCC6 (ATP-binding cassette, sub-family C (CFTR/MRP), member 6). The compounds doxorubicin and daunorubicin have been mentioned in the context of this disorder. Affiliated tissues include brain, tongue and endothelial, and related mouse phenotypes are renal/urinary system and cardiovascular system.

Disease Ontology:9 A cranio-facial dystonia that is accompanied by blepharospasm.

Wikipedia:63 A Mongolian spot, also known as Mongolian blue spot, congenital dermal melanocytosis, and dermal... more...

Related Diseases for Mongolian Spot

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Diseases related to Mongolian Spot via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 156)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoxanthoma elasticum11.4
2keratosis11.1
3pseudo-meigs syndrome11.0
4angioid streaks11.0
5keratosis follicularis spinulosa decalvans, x-linked10.8
6choroiditis10.7
7darier disease10.7
8keratosis follicularis dwarfism and cerebral atrophy10.7
9elastosis perforans serpiginosa10.7
10cutis laxa10.6
11leiomyoma10.6
12struma ovarii10.6
13pseudoxanthoma elasticum, forme fruste10.6
14arterial calcification of infancy10.6
15fibroma10.6
16blepharospasm10.6
17retinitis10.6
18acquired pseudoxanthoma elasticum10.6
19pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency10.5
20thalassemia10.5
21torsion dystonia10.5
22atypical meigs syndrome10.5
23ovarian fibroma10.5
24acne10.5
25alopecia10.5
26keratoderma10.5
27elastoma10.5
28calciphylaxis10.5
29restrictive cardiomyopathy10.5
30vascular disease10.5
31aneurysm10.5
32pseudoxanthoma elasticum-like papillary dermal elastocytosis10.5
33gangliosidosis10.4
34cutis marmorata telangiectatica congenita10.4
35phacomatosis pigmentovascularis10.4
36dystonia10.4
37marfan syndrome10.4
38nephrolithiasis10.4
39retinitis pigmentosa10.4
40eosinophilia-myalgia syndrome10.4
41amyloidosis10.4
42artery disease10.4
43connective tissue disease10.4
44eosinophilia10.4
45white fibrous papulosis of the neck10.4
46cerebellopontine angle meningioma10.4
47peritonitis10.3
48cleft lip10.3
49mucopolysaccharidosis10.3
50breast cancer10.3

Graphical network of the top 20 diseases related to Mongolian Spot:



Diseases related to mongolian spot

Symptoms for Mongolian Spot

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Drugs & Therapeutics for Mongolian Spot

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Drug clinical trials:

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Genetic Tests for Mongolian Spot

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Anatomical Context for Mongolian Spot

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MalaCards organs/tissues related to Mongolian Spot:

31
Brain, Tongue, Endothelial

Animal Models for Mongolian Spot or affiliated genes

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MGI Mouse Phenotypes related to Mongolian Spot:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1IDUA, ABCC6
2MP:00053859.1IDUA, ABCC6
3MP:00053919.0IDUA, ABCC6
4MP:00107718.8IDUA, ABCC6

Publications for Mongolian Spot

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Articles related to Mongolian Spot:

(show all 41)
idTitleAuthorsYear
1
Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome). (24859493)
2014
2
Case of a Mongolian child with extensive Mongolian spots in mucopolysaccharidosis type VI: identification of a novel mutation in the arylsulfatase B gene. (23855929)
2013
3
Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. (21572805)
2011
4
Extensive Mongolian spots in a child with mucolipidosis II. (20465702)
2010
5
Child with Mongolian spots and dysostosis multiplex. (20407650)
2009
6
Mongolian spots in SjAPgren-Larsson syndrome. (18429810)
2008
7
Persistent, aberrant Mongolian spots in SjAPgren-Larsson syndrome. (17300667)
2007
8
An infant with extensive Mongolian spot, naevus flammeus and cutis marmorata telangiectatica congenita: a unique case of phakomatosis pigmentovascularis. (17355231)
2007
9
Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients. (17714129)
2007
10
Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). (16503893)
2006
11
Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. (12588390)
2003
12
Lissencephaly and mongolian spots in Hurler syndrome. (13679124)
2003
13
Mongolian spot. (12696726)
2003
14
Halo-like disappearance of mongolian spot combined with cafAc au lait spot. (9496813)
1998
15
Extensive aberrant Mongolian spot. (7673551)
1995
16
Cleft lip mongolian spot: mongolian spot associated with cleft lip. (8157782)
1994
17
GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic Mongolian spots. (7906450)
1993
18
Mongolian spots and GM1 gangliosidosis type one. (8433304)
1993
19
Out, out damn spot, or the demise of the Mongolian spot. (8322733)
1993
20
Adult onset Mongolian spot. (8440061)
1993
21
Acquired pseudo-mongolian spot associated with minocycline therapy. (1580671)
1992
22
Congenital halo mongolian spot. (1810989)
1991
23
Mongolian spots and GM1 type 1 gangliosidosis. (2360930)
1990
24
The biological significance of the Mongolian spot. (2583887)
1989
25
Klippel-Trenaunay and Sturge-Weber syndrome with extensive Mongolian spots, hypoplastic larynx and subglottic stenosis. (2850877)
1988
26
Common bile nevus of the upper lip--a possible relationship to Mongolian spot. (3540060)
1986
27
Buttock bruises--Mongolian spot. (6462843)
1984
28
What is a Mongolian spot? (7085164)
1982
29
Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots. (6783061)
1981
30
The phenomenon of halo-like disappearance of the Mongolian spot on lesions combined with cafAc au lait spot or acquired pigmented nevus. (7028830)
1981
31
The Mongolian spot: a study of ethnic differences and a literature review. (7028354)
1981
32
Mongolian spot; Afro-Asian stain; sacral stain. (7020103)
1981
33
Natural history of the Mongolian spot. (7026640)
1980
34
on the extracellular sheath of dermal melanocytes in nevus fusco-ceruleus acromiodeltoideus (Ito) and Mongolian spot. An ultrastructural study. (572849)
1979
35
Persistent Mongolian spot in the adult. (5555860)
1971
36
The sacral or Mongolian spot: morphology and expression. (5148009)
1971
37
Blue nevus and its distinction from Mongolian spot and the nevus of Ota. (13130904)
1954
38
Studies on melanin. XI. Further contribution on the pigment-bearing cells in Mongolian spot and blue nevus. (14884182)
1951
39
WHAT is Mongolian about the Mongolian spot? (14892910)
1951
40
The Mongolian spot. (15419977)
1950
41
Studies on melanin. VII. Mongolian spot cell and blue nevus cell. (14776743)
1950

Variations for Mongolian Spot

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Clinvar genetic disease variations for Mongolian Spot:

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCC6NM_001171.5(ABCC6): c.2294G> A (p.Arg765Gln)single nucleotide variantPathogenicrs67561842GRCh37Chr 16, 16272776: 16272776
2ABCC6NM_001171.5(ABCC6): c.4216C> A (p.Gln1406Lys)single nucleotide variantPathogenicrs387906859GRCh37Chr 16, 16244622: 16244622
3ABCC6NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter)single nucleotide variantPathogenicrs72650700GRCh37Chr 16, 16284104: 16284104
4ABCC6NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter)single nucleotide variantPathogenicrs72653706GRCh37Chr 16, 16256935: 16256935
5ABCC6NM_001171.5(ABCC6): c.2787+1G> Tsingle nucleotide variantPathogenicrs72664209GRCh37Chr 16, 16267140: 16267140
6ABCC6NM_001171.5(ABCC6): c.3413G> A (p.Arg1138Gln)single nucleotide variantPathogenicrs60791294GRCh37Chr 16, 16256943: 16256943
7ABCC6NM_001171.5(ABCC6): c.3341G> C (p.Arg1114Pro)single nucleotide variantPathogenicrs63750427GRCh37Chr 16, 16257015: 16257015
8ABCC6NM_001171.5(ABCC6): c.3775delT (p.Trp1259Glyfs)deletionPathogenicrs72664233GRCh37Chr 16, 16251627: 16251627
9ABCC6NM_001171.5(ABCC6): c.3940C> T (p.Arg1314Trp)single nucleotide variantPathogenicrs63750759GRCh37Chr 16, 16248831: 16248831
10ABCC6NC_000016.9: g.(?_15796991)_(16317329_?)deletionPathogenic
11ABCC6NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met)single nucleotide variantPathogenicrs63750459GRCh37Chr 16, 16256967: 16256967
12ABCC6NM_001171.5(ABCC6): c.3412C> T (p.Arg1138Trp)single nucleotide variantPathogenicrs28939701GRCh37Chr 16, 16256944: 16256944
13ABCC6NM_001171.5(ABCC6): c.3490C> T (p.Arg1164Ter)single nucleotide variantPathogenicrs72653744GRCh37Chr 16, 16256866: 16256866
14ABCC6NG_007558.2: g.(60799_60814)_(77206_77221)deldeletionPathogenic
15ABCC6NM_001171.5(ABCC6): c.3736-1G> Asingle nucleotide variantPathogenicrs63750273GRCh37Chr 16, 16251667: 16251667
16ABCC6NM_001171.5(ABCC6): c.4015C> T (p.Arg1339Cys)single nucleotide variantPathogenicrs28939702GRCh37Chr 16, 16248756: 16248756
17ABCC6NM_001171.5(ABCC6): c.4375C> T (p.Arg1459Cys)single nucleotide variantPathogenicrs72547524GRCh37Chr 16, 16244463: 16244463
18ABCC6NM_001171.5(ABCC6): c.3892G> T (p.Val1298Phe)single nucleotide variantPathogenicrs63751325GRCh37Chr 16, 16248879: 16248879
19ABCC6NM_001171.5(ABCC6): c.3904G> A (p.Gly1302Arg)single nucleotide variantPathogenicrs63749856GRCh37Chr 16, 16248867: 16248867
20ABCC6NM_001171.5(ABCC6): c.3961G> A (p.Gly1321Ser)single nucleotide variantPathogenicrs63749823GRCh37Chr 16, 16248810: 16248810
21ABCC6NM_001171.5(ABCC6): c.3712G> C (p.Asp1238His)single nucleotide variantPathogenicrs63749796GRCh37Chr 16, 16253362: 16253362
22ABCC6NM_001171.5(ABCC6): c.1087_1119del33 (p.Gln363_Arg373del)deletionPathogenicrs387906353GRCh37Chr 16, 16295915: 16295947

Expression for genes affiliated with Mongolian Spot

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Search GEO for disease gene expression data for Mongolian Spot.

Pathways for genes affiliated with Mongolian Spot

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Compounds for genes affiliated with Mongolian Spot

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank
See all sources

Compounds related to Mongolian Spot according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1doxorubicin43 49 1211.1IDUA, ABCC6
2daunorubicin43 49 1210.8IDUA, ABCC6

GO Terms for genes affiliated with Mongolian Spot

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Products for genes affiliated with Mongolian Spot

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  • Antibodies
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  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mongolian Spot

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet