MCID: MNG001
MIFTS: 24

Mongolian Spot

Categories: Skin diseases

Aliases & Classifications for Mongolian Spot

MalaCards integrated aliases for Mongolian Spot:

Name: Mongolian Spot 12 44 15 73
Mongolian Macula 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4702
MeSH 44 D049328
NCIt 50 C3945
UMLS 73 C0265985

Summaries for Mongolian Spot

MalaCards based summary : Mongolian Spot, also known as mongolian macula, is related to ti├Ęche-jadassohn nevus and phacomatosis pigmentovascularis. An important gene associated with Mongolian Spot is KRT74 (Keratin 74). Affiliated tissues include skin and endothelial, and related phenotype is craniofacial.

Wikipedia : 76 Mongolian spot (congenital dermal melanocytosis) is a benign, flat, congenital birthmark, with wavy... more...

Related Diseases for Mongolian Spot

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



Diseases related to Mongolian Spot

Symptoms & Phenotypes for Mongolian Spot

MGI Mouse Phenotypes related to Mongolian Spot:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.8 ENO2 FLNA GNAQ

Drugs & Therapeutics for Mongolian Spot

Search Clinical Trials , NIH Clinical Center for Mongolian Spot

Cochrane evidence based reviews: mongolian spot

Genetic Tests for Mongolian Spot

Anatomical Context for Mongolian Spot

MalaCards organs/tissues related to Mongolian Spot:

41
Skin, Endothelial

Publications for Mongolian Spot

Articles related to Mongolian Spot:

(show all 48)
# Title Authors Year
1
Halolike Phenomenon Around a CafAc au Lait Spot Superimposed on a Mongolian Spot. ( 28523880 )
2017
2
Mongolian Spots in GM1 Gangliosidosis. ( 28064276 )
2016
3
Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. ( 27051820 )
2016
4
Phakomatosis pigmentovascularis type IIb: A case with Klippel-TrenA!unay syndrome and extensive dermal melanocytosis as nevus of Ota, nevus of Ito and ectopic Mongolian spots. ( 27374914 )
2016
5
The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis. ( 26312661 )
2015
6
Patient with extensive Mongolian spots, nevus flammeus and nevus vascularis mixtus: A novel case of phacomatosis pigmentovascularis. ( 26498915 )
2015
7
Unusual localization of mongolian spot in a Caucasian infant. ( 26530402 )
2015
8
Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome). ( 24859493 )
2014
9
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
10
Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. ( 21572805 )
2011
11
Extensive Mongolian spots in a child with mucolipidosis II. ( 20465702 )
2010
12
Child with Mongolian spots and dysostosis multiplex. ( 20407650 )
2009
13
Mongolian spots in SjAPgren-Larsson syndrome. ( 18429810 )
2008
14
Persistent, aberrant Mongolian spots in SjAPgren-Larsson syndrome. ( 17300667 )
2007
15
An infant with extensive Mongolian spot, naevus flammeus and cutis marmorata telangiectatica congenita: a unique case of phakomatosis pigmentovascularis. ( 17355231 )
2007
16
Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients. ( 17714129 )
2007
17
Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). ( 16503893 )
2006
18
Mongolian spot. ( 12696726 )
2003
19
Lissencephaly and mongolian spots in Hurler syndrome. ( 13679124 )
2003
20
Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. ( 12588390 )
2003
21
Halo-like disappearance of mongolian spot combined with cafAc au lait spot. ( 9496813 )
1998
22
Extensive aberrant Mongolian spot. ( 7673551 )
1995
23
Cleft lip mongolian spot: mongolian spot associated with cleft lip. ( 8157782 )
1994
24
Mongolian spots and GM1 gangliosidosis type one. ( 8433304 )
1993
25
Out, out damn spot, or the demise of the Mongolian spot. ( 8322733 )
1993
26
GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic Mongolian spots. ( 7906450 )
1993
27
Adult onset Mongolian spot. ( 8440061 )
1993
28
Acquired pseudo-mongolian spot associated with minocycline therapy. ( 1580671 )
1992
29
Congenital halo mongolian spot. ( 1810989 )
1991
30
Mongolian spots and GM1 type 1 gangliosidosis. ( 2360930 )
1990
31
The biological significance of the Mongolian spot. ( 2583887 )
1989
32
Klippel-Trenaunay and Sturge-Weber syndrome with extensive Mongolian spots, hypoplastic larynx and subglottic stenosis. ( 2850877 )
1988
33
Common bile nevus of the upper lip--a possible relationship to Mongolian spot. ( 3540060 )
1986
34
Buttock bruises--Mongolian spot. ( 6462843 )
1984
35
What is a Mongolian spot? ( 7085164 )
1982
36
The phenomenon of halo-like disappearance of the Mongolian spot on lesions combined with cafAc au lait spot or acquired pigmented nevus. ( 7028830 )
1981
37
Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots. ( 6783061 )
1981
38
The Mongolian spot: a study of ethnic differences and a literature review. ( 7028354 )
1981
39
Mongolian spot; Afro-Asian stain; sacral stain. ( 7020103 )
1981
40
Natural history of the Mongolian spot. ( 7026640 )
1980
41
on the extracellular sheath of dermal melanocytes in nevus fusco-ceruleus acromiodeltoideus (Ito) and Mongolian spot. An ultrastructural study. ( 572849 )
1979
42
The sacral or Mongolian spot: morphology and expression. ( 5148009 )
1971
43
Persistent Mongolian spot in the adult. ( 5555860 )
1971
44
Blue nevus and its distinction from Mongolian spot and the nevus of Ota. ( 13130904 )
1954
45
Studies on melanin. XI. Further contribution on the pigment-bearing cells in Mongolian spot and blue nevus. ( 14884182 )
1951
46
WHAT is Mongolian about the Mongolian spot? ( 14892910 )
1951
47
Studies on melanin. VII. Mongolian spot cell and blue nevus cell. ( 14776743 )
1950
48
The Mongolian spot. ( 15419977 )
1950

Variations for Mongolian Spot

Expression for Mongolian Spot

Search GEO for disease gene expression data for Mongolian Spot.

Pathways for Mongolian Spot

GO Terms for Mongolian Spot

Cellular components related to Mongolian Spot according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 8.92 ENO2 FLNA GNAQ KRT74

Biological processes related to Mongolian Spot according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 8.96 FLNA GNAQ
2 platelet activation GO:0030168 8.62 FLNA GNAQ

Molecular functions related to Mongolian Spot according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor binding GO:0001664 8.62 FLNA GNAQ

Sources for Mongolian Spot

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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