MCID: MNG001
MIFTS: 39

Mongolian Spot malady

Genetic diseases, Rare diseases, Skin diseases, Immune diseases categories

Aliases & Classifications for Mongolian Spot

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Aliases & Descriptions for Mongolian Spot:

Name: Mongolian Spot 10 12 65 36
Milroy Disease 21 45 22 23
Hereditary Lymphedema Type I 23 24
Milroy Congenital Lymphedema 21 22
Pseudoxanthoma Elasticum 10 65
Hereditary Lymphedema 1 45 22
Keratosis Follicularis 10 65
Milroy's Disease 45 23
Integument Anomalies: Ichthyosis Congenita 10
Congenital Hereditary Lymphedema 45
Congenital Familial Lymphedema 23
Hereditary Lymphoedema, Type I 22
Hereditary Lymphedema, Type I 21
Milroy Congenital Lymphoedema 22
Primary Congenital Lymphedema 45
 
Nonne-Milroy Lymphedema 23
Early Onset Lymphedema 45
Hereditary Lymphedema 45
Nonne-Milroy Syndrome 45
Nonne-Milroy Disease 45
Nonne’s Syndrome 45
Mongolian Macula 10
Nevus Elasticus 65
Mongolian Spots 10
Congenital Nos 10
Meigs Syndrome 65
Meige Syndrome 65
Milroy's 10
Darier's 10
Meige's 10


Classifications:



External Ids:

Disease Ontology10 DOID:4702
NCIt42 C3945
MeSH36 D049328

Summaries for Mongolian Spot

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NIH Rare Diseases:45 Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet. lymphedema is usually present at birth or develops in infancy. it typically occurs on both sides of the body and can worsen over time. other symptoms may include accumulation of fluid in the scrotum in males (hydrocele), upslanting toenails, deep creases in the toes, wart-like growths, prominent leg veins, and/or cellulitis. milroy disease is sometimes caused by changes (mutations) in the flt4 gene and is inherited in an autosomal dominant manner. in many cases, the cause remains unknown. treatment may include lymphedema therapy to improve function and alleviate symptoms. last updated: 1/29/2015

MalaCards based summary: Mongolian Spot, also known as milroy disease, is related to pseudoxanthoma elasticum and keratosis. An important gene associated with Mongolian Spot is FLT4 (Fms-Related Tyrosine Kinase 4), and among its related pathways are ABC-family proteins mediated transport and . Affiliated tissues include skin, endothelial and breast.

Genetics Home Reference:23 Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time.

Wikipedia:68 A Mongolian spot, also known as Mongolian blue spot, congenital dermal melanocytosis, and dermal... more...

GeneReviews summary for milroy

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 192)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoxanthoma elasticum11.4
2keratosis11.1
3keratosis follicularis spinulosa decalvans11.0
4angioid streaks11.0
5hereditary lymphedema10.8
6lymphedema10.8
7darier disease10.8
8skin disease10.7
9choroiditis10.7
10connective tissue disease10.7
11keratosis follicularis spinulosa decalvans, x-linked10.7
12skin conditions10.7
13vascular skin disease10.7
14vascular hemostatic disease10.7
15factor v leiden thrombophilia10.7
16vascular malformation10.7
17elastosis perforans serpiginosa10.7
18keratosis follicularis dwarfism and cerebral atrophy10.7
19pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency10.6
20cutis laxa10.6
21pseudoxanthoma elasticum, forme fruste10.6
22arterial calcification of infancy10.6
23globe disease10.6
24retinitis10.6
25acquired pseudoxanthoma elasticum10.6
26congenital lymphedema10.5
27phacomatosis pigmentovascularis10.5
28thalassemia10.5
29calcinosis10.5
30vascular disease10.5
31gangliosidosis10.5
32cutis marmorata telangiectatica congenita10.5
33acne10.5
34alopecia10.5
35elastoma10.5
36hereditary lymphedema type ii10.5
37calciphylaxis10.4
38artery disease10.4
39autosomal genetic disease10.4
40restrictive cardiomyopathy10.4
41cardiomyopathy10.4
42aneurysm10.4
43white fibrous papulosis of the neck10.4
44pseudoxanthoma elasticum-like papillary dermal elastocytosis10.4
45pseudoxanthoma elasticum-like skin manifestations with retinis pigmentosa10.4
46peters anomaly10.4
47marfan syndrome10.4
48peripheral vascular disease10.4
49nephrolithiasis10.4
50retinitis pigmentosa10.4

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Premenopausal Hormone Concentrations in a Population of Women at Very Low Risk of Breast CancerCompletedNCT00860886

Search NIH Clinical Center for Mongolian Spot


Cochrane evidence based reviews: Mongolian Spot

Genetic Tests for Mongolian Spot

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Genetic tests related to Mongolian Spot:

id Genetic test Affiliating Genes
1 Milroy Disease22 FLT4
2 Hereditary Lymphedema Type I24

Anatomical Context for Mongolian Spot

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MalaCards organs/tissues related to Mongolian Spot:

33
Skin, Endothelial, Breast

Animal Models for Mongolian Spot or affiliated genes

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Publications for Mongolian Spot

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Articles related to Mongolian Spot:

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

5 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1FLT4NM_182925.4(FLT4): c.2569G> A (p.Gly857Arg)single nucleotide variantPathogenicrs267606818GRCh37Chr 5, 180046743: 180046743
2FLT4NM_182925.4(FLT4): c.3122G> C (p.Arg1041Pro)single nucleotide variantPathogenicrs121909650GRCh37Chr 5, 180043464: 180043464
3FLT4NM_182925.4(FLT4): c.3131T> C (p.Leu1044Pro)single nucleotide variantPathogenicrs121909651GRCh37Chr 5, 180043455: 180043455
4FLT4NM_182925.4(FLT4): c.3341C> T (p.Pro1114Leu)single nucleotide variantPathogenicrs121909652GRCh37Chr 5, 180040101: 180040101
5FLT4NM_182925.4(FLT4): c.2632G> A (p.Val878Met)single nucleotide variantPathogenicrs121909654GRCh37Chr 5, 180046680: 180046680
6FLT4NM_182925.4(FLT4): c.3257T> C (p.Ile1086Thr)single nucleotide variantPathogenicrs121909655GRCh37Chr 5, 180041142: 180041142
7FLT4NM_182925.4(FLT4): c.3316G> A (p.Glu1106Lys)single nucleotide variantPathogenicrs121909656GRCh37Chr 5, 180041083: 180041083
8FLT4NM_182925.4(FLT4): c.3323_3325delTCT (p.Phe1108del)deletionPathogenicrs587776833GRCh38Chr 5, 180614074: 180614076
9FLT4NM_182925.4(FLT4): c.2563G> A (p.Ala855Thr)single nucleotide variantPathogenicrs121909657GRCh37Chr 5, 180046749: 180046749
10ABCC6NM_001171.5(ABCC6): c.3306+1delGdeletionPathogenicrs797045078GRCh37Chr 16, 16259479: 16259479
11ABCC6NM_001171.5(ABCC6): c.2294G> A (p.Arg765Gln)single nucleotide variantPathogenicrs67561842GRCh37Chr 16, 16272776: 16272776
12ABCC6NM_001171.5(ABCC6): c.4216C> A (p.Gln1406Lys)single nucleotide variantPathogenicrs387906859GRCh37Chr 16, 16244622: 16244622
13ABCC6NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter)single nucleotide variantPathogenicrs72650700GRCh37Chr 16, 16284104: 16284104
14ABCC6NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter)single nucleotide variantPathogenicrs72653706GRCh37Chr 16, 16256935: 16256935
15ABCC6NM_001171.5(ABCC6): c.2787+1G> Tsingle nucleotide variantPathogenicrs72664209GRCh37Chr 16, 16267140: 16267140
16ABCC6NM_001171.5(ABCC6): c.3413G> A (p.Arg1138Gln)single nucleotide variantPathogenicrs60791294GRCh37Chr 16, 16256943: 16256943
17ABCC6NM_001171.5(ABCC6): c.3341G> C (p.Arg1114Pro)single nucleotide variantPathogenicrs63750427GRCh37Chr 16, 16257015: 16257015
18ABCC6NM_001171.5(ABCC6): c.3775delT (p.Trp1259Glyfs)deletionPathogenicrs72664233GRCh37Chr 16, 16251627: 16251627
19ABCC6NM_001171.5(ABCC6): c.3940C> T (p.Arg1314Trp)single nucleotide variantPathogenicrs63750759GRCh37Chr 16, 16248831: 16248831
20ABCC6NM_001171.5(ABCC6): c.4243_4244insAGAA (p.Ala1415Glufs)insertionPathogenicrs387906352GRCh37Chr 16, 16244594: 16244595
21ABCC6ABCC6, 22-BP DELdeletionPathogenic
22NC_000016.10: g.(?_15703134)_(16223472_?)deldeletionPathogenicGRCh37Chr 16, 15796991: 16317329
23ABCC6NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met)single nucleotide variantPathogenicrs63750459GRCh37Chr 16, 16256967: 16256967
24ABCC6NM_001171.5(ABCC6): c.3803G> A (p.Arg1268Gln)single nucleotide variantPathogenicrs2238472GRCh37Chr 16, 16251599: 16251599
25ABCC6NM_001171.5(ABCC6): c.3412C> T (p.Arg1138Trp)single nucleotide variantPathogenicrs28939701GRCh37Chr 16, 16256944: 16256944
26ABCC6NM_001171.5(ABCC6): c.3490C> T (p.Arg1164Ter)single nucleotide variantPathogenicrs72653744GRCh37Chr 16, 16256866: 16256866
27ABCC6NG_007558.2: g.(60799_60814)_(77206_77221)deldeletionPathogenicGRCh38Chr 16, 16151251: 16167673
28ABCC6NM_001171.5(ABCC6): c.3736-1G> Asingle nucleotide variantPathogenicrs63750273GRCh37Chr 16, 16251667: 16251667
29ABCC6NM_001171.5(ABCC6): c.4015C> T (p.Arg1339Cys)single nucleotide variantPathogenicrs28939702GRCh37Chr 16, 16248756: 16248756
30ABCC6NM_001171.5(ABCC6): c.4375C> T (p.Arg1459Cys)single nucleotide variantPathogenicrs72547524GRCh37Chr 16, 16244463: 16244463
31ABCC6NM_001171.5(ABCC6): c.3892G> T (p.Val1298Phe)single nucleotide variantPathogenicrs63751325GRCh37Chr 16, 16248879: 16248879
32ABCC6NM_001171.5(ABCC6): c.3904G> A (p.Gly1302Arg)single nucleotide variantPathogenicrs63749856GRCh37Chr 16, 16248867: 16248867
33ABCC6NM_001171.5(ABCC6): c.3961G> A (p.Gly1321Ser)single nucleotide variantPathogenicrs63749823GRCh37Chr 16, 16248810: 16248810
34ABCC6NM_001171.5(ABCC6): c.3712G> C (p.Asp1238His)single nucleotide variantPathogenicrs63749796GRCh37Chr 16, 16253362: 16253362
35ABCC6NM_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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Pathways related to Mongolian Spot according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4ABCA12, ABCC6
2
Angiogenesis (CST)
Show member pathways
9.2ABCA12, ABCC6

GO Terms for genes affiliated with Mongolian Spot

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupled to transmembrane movement of substancesGO:00426269.8ABCA12, ABCC6
2ATPase activityGO:00168879.4ABCA12, ABCC6

Sources for Mongolian Spot

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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