MCID: MNG001
MIFTS: 22

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
SNOMED-CT 68 40467008
UMLS 73 C0265985

Summaries for Mongolian Spot

MalaCards based summary : Mongolian Spot, also known as mongolian macula, is related to weber syndrome and ti├Ęche-jadassohn nevus. An important gene associated with Mongolian Spot is KRT74 (Keratin 74), and among its related pathways/superpathways is Salivary secretion. Affiliated tissues include skin, lung and thyroid.

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

Related Diseases for Mongolian Spot

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 weber syndrome 29.8 GNAQ SST
2 tièche-jadassohn nevus 11.7
3 phacomatosis pigmentovascularis 11.6
4 albinism, oculocutaneous, type iii 11.2
5 gangliosidosis gm1 10.3
6 cutis marmorata telangiectatica congenita 10.2
7 mucopolysaccharidosis, type ii 10.1
8 nevus of ota 10.1
9 hurler syndrome 10.0
10 inherited metabolic disorder 10.0
11 cleft lip 10.0
12 pancreatic somatostatinoma 9.9 ENO2 SST
13 somatostatinoma 9.9 ENO2 SST
14 retroperitoneal neuroblastoma 9.9 ENO2 SST
15 duodenal somatostatinoma 9.9 ENO2 SST
16 carcinoid tumors, intestinal 9.9 ENO2 SST
17 pertussis 9.9 GNAQ SST
18 duodenal gastrinoma 9.9 ENO2 SST
19 carcinoid syndrome 9.9 ENO2 SST
20 duodenum cancer 9.9 ENO2 SST
21 malignant pheochromocytoma 9.9 ENO2 SST
22 mixed ductal-endocrine carcinoma 9.9 ENO2 SST
23 nevus anemicus 9.9
24 sturge-weber syndrome 9.9
25 wolf-hirschhorn syndrome 9.9
26 gm1-gangliosidosis, type i 9.9
27 mucopolysaccharidosis, type vi 9.9
28 lysosomal storage disease 9.9
29 lissencephaly 9.9
30 dysostosis 9.9
31 chromosome 4p deletion 9.9
32 ileum cancer 9.9 ENO2 SST
33 meningeal melanomatosis 9.9 ENO2 GNAQ
34 merkel cell carcinoma 9.9 ENO2 SST
35 paraganglioma 9.9 ENO2 SST
36 status epilepticus 9.8 ENO2 SST
37 central nervous system melanocytic neoplasm 9.8 ENO2 GNAQ
38 thyroid carcinoma, familial medullary 9.8 ENO2 SST
39 neuroendocrine tumor 9.8 ENO2 SST
40 meningioma, familial 9.8 ENO2 SST
41 meningeal melanocytoma 9.7 ADAMTS1 ENO2 GNAQ
42 nervous system cancer 9.7 ENO2 GNAQ SST
43 small cell cancer of the lung 9.7 ENO2 SST

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



Diseases related to Mongolian Spot

Symptoms & Phenotypes for Mongolian Spot

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, Lung, Thyroid

Publications for Mongolian Spot

Articles related to Mongolian Spot:

(show all 28)
# Title Authors Year
1
Halolike Phenomenon Around a CafAc au Lait Spot Superimposed on a Mongolian Spot. ( 28523880 )
2017
2
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
3
Unusual localization of mongolian spot in a Caucasian infant. ( 26530402 )
2015
4
An infant with extensive Mongolian spot, naevus flammeus and cutis marmorata telangiectatica congenita: a unique case of phakomatosis pigmentovascularis. ( 17355231 )
2007
5
Mongolian spot. ( 12696726 )
2003
6
Halo-like disappearance of mongolian spot combined with cafAc au lait spot. ( 9496813 )
1998
7
Extensive aberrant Mongolian spot. ( 7673551 )
1995
8
Cleft lip mongolian spot: mongolian spot associated with cleft lip. ( 8157782 )
1994
9
Out, out damn spot, or the demise of the Mongolian spot. ( 8322733 )
1993
10
Adult onset Mongolian spot. ( 8440061 )
1993
11
Acquired pseudo-mongolian spot associated with minocycline therapy. ( 1580671 )
1992
12
Congenital halo mongolian spot. ( 1810989 )
1991
13
The biological significance of the Mongolian spot. ( 2583887 )
1989
14
Common bile nevus of the upper lip--a possible relationship to Mongolian spot. ( 3540060 )
1986
15
Buttock bruises--Mongolian spot. ( 6462843 )
1984
16
What is a Mongolian spot? ( 7085164 )
1982
17
The phenomenon of halo-like disappearance of the Mongolian spot on lesions combined with cafAc au lait spot or acquired pigmented nevus. ( 7028830 )
1981
18
The Mongolian spot: a study of ethnic differences and a literature review. ( 7028354 )
1981
19
Mongolian spot; Afro-Asian stain; sacral stain. ( 7020103 )
1981
20
Natural history of the Mongolian spot. ( 7026640 )
1980
21
on the extracellular sheath of dermal melanocytes in nevus fusco-ceruleus acromiodeltoideus (Ito) and Mongolian spot. An ultrastructural study. ( 572849 )
1979
22
The sacral or Mongolian spot: morphology and expression. ( 5148009 )
1971
23
Persistent Mongolian spot in the adult. ( 5555860 )
1971
24
Blue nevus and its distinction from Mongolian spot and the nevus of Ota. ( 13130904 )
1954
25
Studies on melanin. XI. Further contribution on the pigment-bearing cells in Mongolian spot and blue nevus. ( 14884182 )
1951
26
WHAT is Mongolian about the Mongolian spot? ( 14892910 )
1951
27
Studies on melanin. VII. Mongolian spot cell and blue nevus cell. ( 14776743 )
1950
28
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.84 GNAQ SST

GO Terms for Mongolian Spot

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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