MCID: MNG001
MIFTS: 31

Mongolian Spot

Categories: Skin diseases

Aliases & Classifications for Mongolian Spot

MalaCards integrated aliases for Mongolian Spot:

Name: Mongolian Spot 12 44 15 17 70
Mongolian Macula 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4702
MeSH 44 D049328
NCIt 50 C3945
SNOMED-CT 67 40467008
UMLS 70 C0265985

Summaries for Mongolian Spot

MalaCards based summary : Mongolian Spot, also known as mongolian macula, is related to gangliosidosis and ti├Ęche-jadassohn nevus. An important gene associated with Mongolian Spot is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Circadian rythm related genes and Lysosome. Affiliated tissues include skin, and related phenotypes are behavior/neurological and integument

Wikipedia : 73 Slate grey nevus (congenital dermal melanocytosis, Mongolian spot) is a benign, flat, congenital... more...

Related Diseases for Mongolian Spot

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

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 gangliosidosis 30.2 NEU1 GLB1
2 tièche-jadassohn nevus 11.3
3 albinism, oculocutaneous, type iii 11.2
4 phakomatosis cesioflammea 10.3 GNAQ GNA11
5 leukodystrophy, hypomyelinating, 5 10.2 GLB1 ERCC6
6 hypomelanosis of ito 10.2 GNAQ GNA11
7 hypocalciuric hypercalcemia, familial, type ii 10.2 GNAQ GNA11
8 weber syndrome 10.2 GNAQ GNA11
9 atrophic rhinitis 10.1 NEU1 GNAQ
10 morquio syndrome 10.1 NEU1 GLB1
11 nevus of ota 10.1
12 mucopolysaccharidoses 10.1 NAGLU IDUA
13 melanomatosis 10.1 MLANA GNAQ
14 hurler-scheie syndrome 10.1 NAGLU IDUA
15 glycoproteinosis 10.1 NEU1 GLB1
16 mucopolysaccharidosis, type iiid 10.1 NAGLU IDUA
17 sturge-weber syndrome 10.1 GNAQ GNA11
18 mucopolysaccharidosis, type iiic 10.1 NAGLU IDUA
19 gingival hypertrophy 10.1 IDUA GLB1
20 conjunctival nevus 10.1 MLANA GNAQ
21 mucosal melanoma 10.1 GNAQ GNA11
22 malignant anus melanoma 10.1 MLANA GNA11
23 mucopolysaccharidosis, type vii 10.1 NAGLU IDUA
24 epithelioid cell melanoma 10.1 MLANA GNA11
25 mucopolysaccharidosis, type iiib 10.0 NAGLU IDUA
26 cutis marmorata telangiectatica congenita 10.0
27 neurofibromatosis 10.0
28 cleft lip 10.0
29 phacomatosis pigmentovascularis 10.0
30 gm2 gangliosidosis 10.0 NEU1 GLB1 ERCC6
31 orbit rhabdomyosarcoma 10.0 MLANA GNAQ
32 familial hypocalciuric hypercalcemia 10.0 GNAQ GNA11
33 mucopolysaccharidosis, type ivb 10.0 NAGLU IDUA GLB1
34 fucosidosis 10.0 NAGLU IDUA GLB1
35 mucopolysaccharidosis, type iva 10.0 NAGLU IDUA GLB1
36 mucopolysaccharidosis, type vi 10.0 NAGLU IDUA GLB1
37 mucopolysaccharidosis, type ii 10.0 NAGLU IDUA GLB1
38 mucopolysaccharidosis iv 10.0 NAGLU IDUA GLB1
39 scheie syndrome 10.0 NAGLU IDUA GLB1
40 mucopolysaccharidosis iii 10.0 NAGLU IDUA GLB1
41 galactosialidosis 10.0 NEU1 IDUA GLB1
42 hepatorenal syndrome 10.0 NAGLU EDN3
43 tay-sachs disease 10.0 NEU1 IDUA GLB1
44 meningeal melanoma 9.9 MLANA GNAQ GNA11
45 meningeal melanomatosis 9.9 MLANA GNAQ GNA11
46 malignant leptomeningeal tumor 9.9 MLANA GNAQ GNA11
47 meningeal melanocytoma 9.9 MLANA GNAQ GNA11
48 mucolipidosis 9.9 NEU1 IDUA GLB1
49 malignant dermis tumor 9.9 MLANA GNAQ GNA11
50 central nervous system melanocytic neoplasm 9.9 MLANA GNAQ GNA11

Symptoms & Phenotypes for Mongolian Spot

MGI Mouse Phenotypes related to Mongolian Spot:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 ASIP EDN3 ERCC6 GLB1 GNA11 GNAQ
2 integument MP:0010771 10.09 ASIP EDN3 ERCC6 GNA11 GNAQ IDUA
3 hematopoietic system MP:0005397 10.08 ASIP ERCC6 GLB1 GNA11 GNAQ IDUA
4 immune system MP:0005387 10.06 ASIP ERCC6 GLB1 GNA11 GNAQ IDUA
5 hearing/vestibular/ear MP:0005377 9.97 ASIP ERCC6 GNA11 GNAQ IDUA NAGLU
6 mortality/aging MP:0010768 9.97 ASIP EDN3 ERCC6 GLB1 GNA11 GNAQ
7 liver/biliary system MP:0005370 9.91 ASIP ERCC6 GLB1 GNA11 IDUA NAGLU
8 nervous system MP:0003631 9.91 ASIP EDN3 ERCC6 GLB1 GNA11 GNAQ
9 limbs/digits/tail MP:0005371 9.8 ASIP ERCC6 GNA11 GNAQ IDUA
10 pigmentation MP:0001186 9.63 ASIP EDN3 GNA11 GNAQ MLANA NAGLU
11 renal/urinary system MP:0005367 9.5 ASIP GLB1 GNA11 GNAQ IDUA NAGLU
12 skeleton MP:0005390 9.23 ASIP ERCC6 GLB1 GNA11 GNAQ IDUA

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:

40
Skin

Publications for Mongolian Spot

Articles related to Mongolian Spot:

(show top 50) (show all 107)
# Title Authors PMID Year
1
Oral mucosal and skin lesions observed in the first 48 hr in newborns. 61
33609325 2021
2
Halolike phenomenon in a patient with neurofibromatosis type 1 and mongolian spot. 61
32129589 2020
3
Bringing an end to the "Mongolian Spot". 61
31529640 2019
4
Revisiting the history of the "Mongolian spot": The background and implications of a medical term used today. 61
31141213 2019
5
The spectrum of benign dermal dendritic melanocytic proliferations. 61
30767282 2019
6
Surgical histopathology of limited dorsal myeloschisis with flat skin lesion. 61
29934704 2019
7
A female infant with phacomatosis pigmentovascularis and congenital chylous ascites: A case report. 61
30142845 2018
8
Halolike Phenomenon Around a Café au Lait Spot Superimposed on a Mongolian Spot. 61
28523880 2017
9
Unusual localization of Mongolian spot in a Caucasian infant. 61
26530402 2016
10
Melanoma arising in a nevus of Ito: novel genetic mutations and a review of the literature on cutaneous malignant transformation of dermal melanocytosis. 61
26260725 2016
11
A Clinico-Etiological Study of Dermatoses in Pediatric Age Group in Tertiary Health Care Center in South Gujarat Region. 61
26677296 2015
12
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. 61
26312661 2015
13
[Birth marks and neonatal skin disorders. From angel kiss to epidermolysis bullosa]. 61
24659743 2014
14
A cross-sectional prospective study of cutaneous lesions in newborn. 61
24575304 2014
15
Phacomatosis pigmentovascularis type IIa--case report. 61
24346888 2013
16
Late onset Ito's nevus. 61
23729678 2013
17
[Nevus flammeus, aberrant mongolian spot and neurological symptoms]. 61
22595636 2013
18
[Extensive mongolian spot: a clinical sign that deserves attention]. 61
24648854 2013
19
A survey of birthmarks and cutaneous skin lesions in newborns. 61
23724455 2013
20
Intense pulsed light therapy for aberrant Mongolian spots. 61
23610848 2012
21
Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis. 61
22713702 2012
22
Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis. 61
21815260 2011
23
Dermatoses in the first 72 h of life: a clinical and statistical survey. 61
21727694 2011
24
Mucocutaneous disorders in children with down syndrome: case-controlled study. 61
22303799 2011
25
An unusual case of congenital dermal melanocytosis. 61
21165221 2010
26
Incidence of skin conditions in neonates born at a public hospital associated with some variables in pregnant women at risk. 61
26759994 2010
27
Malignant melanoma transformation within a nevus of Ito. 61
20074832 2010
28
Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. 61
20186807 2010
29
Acquired dermal melanocytosis of the hand at the site of treated psoriasis. 61
20040252 2009
30
Phacomatosis pigmentopigmentalis: aberrant Mongolian spots and segmental café au lait macules. 61
19419484 2009
31
Prevalence of cutaneous findings in hospitalized neonates: a prospective observational study. 61
19419458 2009
32
Survey of common cutaneous lesions in healthy infants at the well baby clinic. 61
18843864 2008
33
Superimposed Mongolian spots. 61
18429787 2008
34
Phacomatosis cesioflammea with unilateral lipohypoplasia. 61
18203153 2008
35
Late-onset Ito's nevus: an uncommon acquired dermal melanocytosis. 61
17640235 2007
36
An infant with extensive Mongolian spot, naevus flammeus and cutis marmorata telangiectatica congenita: a unique case of phakomatosis pigmentovascularis. 61
17355231 2007
37
A birthmark survey in 500 newborns: clinical observation in two northern Taiwan medical center nurseries. 61
17760272 2007
38
Clinically distinct form of acquired dermal melanocytosis with review of published work. 61
17291298 2007
39
Birthmarks and transient skin lesions in newborns and their relationship to maternal factors: a preliminary report from northern Italy. 61
17587840 2007
40
A giant congenital nevus spilus in an 8-year-old girl. 61
17142204 2006
41
Dermal dendritic melanocytic proliferations: an update. 61
15500647 2004
42
Acquired, bilateral nevus of Ota-like macules (ABNOM) associated with Ota's nevus: case report. 61
15308859 2004
43
Cutaneous diseases in Asians. 61
14717407 2003
44
Significance of extensive Mongolian spots in Hunter's syndrome. 61
12828746 2003
45
Mongolian spot. 61
12696726 2003
46
Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis. 61
12404100 2002
47
Cutaneous lesions in new born. 61
17656992 2002
48
Prevalence of Mongolian spots in Nigerian children in Ile-Ife, Nigeria. 61
11806010 2001
49
Mongolian spots with involvement of the temporal area. 61
11454090 2001
50
Phakomatosis pigmentovascularis with Sturge-Weber syndrome: a case report. 61
10935346 2000

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 9.73 NEU1 NAGLU IDUA GNAQ GNA11 GLB1
2 lysosome GO:0005764 9.26 NEU1 NAGLU IDUA GLB1
3 heterotrimeric G-protein complex GO:0005834 9.16 GNAQ GNA11
4 lysosomal lumen GO:0043202 8.92 NEU1 NAGLU IDUA GLB1

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.61 NEU1 IDUA GLB1
2 glycosphingolipid metabolic process GO:0006687 9.4 NEU1 GLB1
3 action potential GO:0001508 9.37 GNAQ GNA11
4 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.32 GNAQ GNA11
5 phototransduction, visible light GO:0007603 9.26 GNAQ GNA11
6 metabolic process GO:0008152 9.26 NEU1 NAGLU IDUA GLB1
7 entrainment of circadian clock GO:0009649 9.16 GNAQ GNA11
8 glycosaminoglycan catabolic process GO:0006027 8.8 NAGLU IDUA GLB1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.85 NEU1 NAGLU IDUA GLB1 ERCC6 ERAS
2 GTP binding GO:0005525 9.46 GTPBP6 GNAQ GNA11 ERAS
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.4 IDUA GLB1
4 G-protein beta/gamma-subunit complex binding GO:0031683 9.32 GNAQ GNA11
5 guanyl nucleotide binding GO:0019001 9.26 GNAQ GNA11
6 type 2A serotonin receptor binding GO:0031826 8.96 GNAQ GNA11
7 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 NEU1 NAGLU IDUA GLB1

Sources for Mongolian Spot

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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