GVMS
MCID: GLM012
MIFTS: 30

Glomuvenous Malformations (GVMS)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glomuvenous Malformations

MalaCards integrated aliases for Glomuvenous Malformations:

Name: Glomuvenous Malformations 57 75 29 13 6 73
Venous Malformations with Glomus Cells 57 59
Glomus Tumors, Multiple 57 55
Glomangiomatosis 59 73
Vmglom 57 59
Venous Malformations with Glomus Cells; Vmglom 57
Hereditary Multiple Glomangiomas 59
Malformations, Glomuvenous 40
Glomuvenous Malformation 59
Glomangiomas, Multiple 57
Multiple Glomus Tumors 59
Gvms 75
Gvm 57

Characteristics:

Orphanet epidemiological data:

59
glomuvenous malformation
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
glomuvenous malformations:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 138000
Orphanet 59 ORPHA83454
ICD10 via Orphanet 34 Q27.8
MESH via Orphanet 45 C536827
UMLS via Orphanet 74 C1841984
MedGen 42 C1841984
SNOMED-CT via HPO 69 263681008 199879009 95320005

Summaries for Glomuvenous Malformations

OMIM : 57 Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations (VMCM; 600195), but clinically are distinguishable: they have a cobble-stone appearance, have a consistency harder than that of venous malformations, and are painful on palpation. Histologically, GVMs are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels. The term glomus (Latin for ball) stems from the morphologically similar contractile cells of the Sucquet-Hoyer arteriovenous anastomoses in glomus bodies that are involved in cutaneous thermoregulation. Glomus cells in GVMs appear to be incompletely or improperly differentiated vascular smooth muscle cells, since they stain positively with smooth muscle cell alpha-actin (102620) and vimentin (193060) (summary by Brouillard et al., 2002). The genetic distinctness of glomuvenous malformations from mucocutaneous venous malformations is indicated by the fact that mutations have been found in the TIE2/TEK gene (600221) in mucocutaneous venous malformations and not in glomuvenous malformations. (138000)

MalaCards based summary : Glomuvenous Malformations, also known as venous malformations with glomus cells, is related to venous malformations, multiple cutaneous and mucosal and human venous malformation. An important gene associated with Glomuvenous Malformations is GLMN (Glomulin, FKBP Associated Protein). Affiliated tissues include smooth muscle and skin, and related phenotypes are abnormality of metabolism/homeostasis and abnormality of the skin

UniProtKB/Swiss-Prot : 75 Glomuvenous malformations: Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens.

Related Diseases for Glomuvenous Malformations

Diseases related to Glomuvenous Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 venous malformations, multiple cutaneous and mucosal 31.5 KRIT1 GLMN
2 human venous malformation 30.4 KRIT1 GLMN
3 glomangiomatosis 12.3
4 glomangioma 10.3
5 glomus tumor 10.3
6 distichiasis 10.0
7 macrodactyly 10.0
8 vesicoureteral reflux 1 10.0
9 ascites, chylous 10.0
10 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.0
11 alopecia 10.0
12 microcephaly 10.0
13 lipoblastoma 10.0
14 spitz nevus 10.0
15 hemangioma 9.9
16 gardner-diamond syndrome 9.9
17 klippel-trenaunay-weber syndrome 9.9 KRIT1 GLMN

Graphical network of the top 20 diseases related to Glomuvenous Malformations:



Diseases related to Glomuvenous Malformations

Symptoms & Phenotypes for Glomuvenous Malformations

Symptoms via clinical synopsis from OMIM:

57
Skin:
multiple glomus tumors

Lab:
multiple layers of glomus cells lining blood-filled cavities


Clinical features from OMIM:

138000

Human phenotypes related to Glomuvenous Malformations:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 abnormality of the skin 32 HP:0000951

Drugs & Therapeutics for Glomuvenous Malformations

Search Clinical Trials , NIH Clinical Center for Glomuvenous Malformations

Genetic Tests for Glomuvenous Malformations

Genetic tests related to Glomuvenous Malformations:

# Genetic test Affiliating Genes
1 Glomuvenous Malformations 29 GLMN

Anatomical Context for Glomuvenous Malformations

MalaCards organs/tissues related to Glomuvenous Malformations:

41
Smooth Muscle, Skin

Publications for Glomuvenous Malformations

Articles related to Glomuvenous Malformations:

(show all 32)
# Title Authors Year
1
Glomuvenous malformations: dual PDL-Nd:YAG laser approach. ( 29594737 )
2018
2
Glomulin mutation and glomuvenous malformations: two case reports with the same mutation but different phenotypes. ( 30325312 )
2018
3
Glomulin gene c.157_161del mutation in a family with multiple glomuvenous malformations. ( 30460983 )
2018
4
Multiple, neonatal, self-healing, cutaneous glomuvenous malformations. ( 28164891 )
2017
5
Color Doppler Ultrasound Study of Glomuvenous Malformations with its Clinical and Histologic Correlations. ( 28683898 )
2017
6
Smoothelin and WT-1 expression in glomus tumors and glomuvenous malformations. ( 27184662 )
2016
7
Multiple, neonatal, self-healing, cutaneous glomuvenous malformations. ( 28004650 )
2016
8
Long-Pulsed Neodymium-Doped Yttrium Aluminum Garnet Laser for Glomuvenous Malformations in Adolescents. ( 26138991 )
2015
9
Plaque-type glomuvenous malformations in a child. ( 26211830 )
2015
10
Loss of heterozygosity in a case of glomuvenous malformations. ( 25809388 )
2015
11
Plaque-type glomuvenous malformations successfully treated using combined pulsed dye laser and neodymium-doped yttrium aluminum garnet laser. ( 24238065 )
2014
12
Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting. ( 24345188 )
2014
13
Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations. ( 24961656 )
2014
14
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. ( 23375657 )
2013
15
Multiple glomuvenous malformations presenting in a child: follow-up over a period of 8 years. ( 23853196 )
2013
16
A case of congenital plaque-type glomuvenous malformations. ( 23691933 )
2013
17
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. ( 22407726 )
2012
18
Multiple disseminated glomuvenous malformations: do we know enough? ( 23303036 )
2012
19
Congenital plaque-type glomuvenous malformations associated with fetal pleural effusion and ascites. ( 21133993 )
2011
20
A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations. ( 22092580 )
2011
21
Glomuvenous Malformations (Familial generalized multiple glomangiomas). ( 22031635 )
2011
22
Glomuvenous malformations in the buccal area. ( 21119485 )
2010
23
A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma. ( 20055849 )
2009
24
Multiple congenital plaquelike glomuvenous malformations with type 2 segmental involvement. ( 19743719 )
2009
25
Genetic analysis of a family with hereditary glomuvenous malformations. ( 17680968 )
2007
26
Unilateral glomuvenous malformations. ( 17373995 )
2007
27
Glomuvenous malformations. ( 17511950 )
2007
28
Mutation analysis in Irish families with glomuvenous malformations. ( 16445774 )
2006
29
Congenital plaque-type glomuvenous malformations presenting in childhood. ( 16847206 )
2006
30
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. ( 15689436 )
2005
31
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ('glomangiomas'). ( 11845407 )
2002
32
Facial "glomangiomas": large facial venous malformations with glomus cells. ( 11464185 )
2001

Variations for Glomuvenous Malformations

ClinVar genetic disease variations for Glomuvenous Malformations:

6 (show top 50) (show all 71)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLMN GLMN, 5-BP DEL, 980CAGAA deletion Pathogenic
2 GLMN NM_053274.2(GLMN): c.157_161delAAGAA (p.Lys53Terfs) deletion Pathogenic rs762515373 GRCh37 Chromosome 1, 92762965: 92762969
3 GLMN NM_053274.2(GLMN): c.157_161delAAGAA (p.Lys53Terfs) deletion Pathogenic rs762515373 GRCh38 Chromosome 1, 92297408: 92297412
4 GLMN NM_053274.2(GLMN): c.1179_1181delCAA (p.Asn393del) deletion Pathogenic rs773442562 GRCh37 Chromosome 1, 92732009: 92732011
5 GLMN NM_053274.2(GLMN): c.736-2886_1214+254delinsGG indel Pathogenic GRCh38 Chromosome 1, 92266165: 92274538
6 GLMN NM_053274.2(GLMN): c.736-2886_1214+254delinsGG indel Pathogenic GRCh37 Chromosome 1, 92731722: 92740095
7 GLMN NM_053274.2(GLMN): c.1179_1181delCAA (p.Asn393del) deletion Pathogenic rs773442562 GRCh38 Chromosome 1, 92266452: 92266454
8 GLMN NM_053274.2(GLMN): c.*92T> G single nucleotide variant Likely benign rs534277037 GRCh38 Chromosome 1, 92246438: 92246438
9 GLMN NM_053274.2(GLMN): c.*92T> G single nucleotide variant Likely benign rs534277037 GRCh37 Chromosome 1, 92711995: 92711995
10 GLMN NM_053274.2(GLMN): c.1410-15_1410-14delAT deletion Likely benign rs555041177 GRCh38 Chromosome 1, 92262940: 92262941
11 GLMN NM_053274.2(GLMN): c.1410-15_1410-14delAT deletion Likely benign rs555041177 GRCh37 Chromosome 1, 92728497: 92728498
12 GLMN NM_053274.2(GLMN): c.1215-9G> T single nucleotide variant Uncertain significance rs774161019 GRCh38 Chromosome 1, 92264647: 92264647
13 GLMN NM_053274.2(GLMN): c.1215-9G> T single nucleotide variant Uncertain significance rs774161019 GRCh37 Chromosome 1, 92730204: 92730204
14 GLMN NM_053274.2(GLMN): c.978-4T> C single nucleotide variant Uncertain significance rs750401776 GRCh38 Chromosome 1, 92268139: 92268139
15 GLMN NM_053274.2(GLMN): c.978-4T> C single nucleotide variant Uncertain significance rs750401776 GRCh37 Chromosome 1, 92733696: 92733696
16 GLMN NM_053274.2(GLMN): c.899T> C (p.Ile300Thr) single nucleotide variant Likely benign rs34062020 GRCh38 Chromosome 1, 92271489: 92271489
17 GLMN NM_053274.2(GLMN): c.899T> C (p.Ile300Thr) single nucleotide variant Likely benign rs34062020 GRCh37 Chromosome 1, 92737046: 92737046
18 GLMN NM_053274.2(GLMN): c.519T> C (p.Leu173=) single nucleotide variant Likely benign rs146069171 GRCh37 Chromosome 1, 92754584: 92754584
19 GLMN NM_053274.2(GLMN): c.519T> C (p.Leu173=) single nucleotide variant Likely benign rs146069171 GRCh38 Chromosome 1, 92289027: 92289027
20 GLMN NM_053274.2(GLMN): c.-34G> A single nucleotide variant Likely benign rs556956035 GRCh38 Chromosome 1, 92298928: 92298928
21 GLMN NM_053274.2(GLMN): c.-34G> A single nucleotide variant Likely benign rs556956035 GRCh37 Chromosome 1, 92764485: 92764485
22 GLMN NM_053274.2(GLMN): c.-44G> A single nucleotide variant Uncertain significance rs886046548 GRCh37 Chromosome 1, 92764495: 92764495
23 GLMN NM_053274.2(GLMN): c.*115G> C single nucleotide variant Benign rs2046620 GRCh38 Chromosome 1, 92246415: 92246415
24 GLMN NM_053274.2(GLMN): c.*115G> C single nucleotide variant Benign rs2046620 GRCh37 Chromosome 1, 92711972: 92711972
25 GLMN NM_053274.2(GLMN): c.1635G> A (p.Glu545=) single nucleotide variant Uncertain significance rs376960198 GRCh38 Chromosome 1, 92247095: 92247095
26 GLMN NM_053274.2(GLMN): c.1635G> A (p.Glu545=) single nucleotide variant Uncertain significance rs376960198 GRCh37 Chromosome 1, 92712652: 92712652
27 GLMN NM_053274.2(GLMN): c.542T> C (p.Ile181Thr) single nucleotide variant Likely benign rs139873200 GRCh37 Chromosome 1, 92754561: 92754561
28 GLMN NM_053274.2(GLMN): c.542T> C (p.Ile181Thr) single nucleotide variant Likely benign rs139873200 GRCh38 Chromosome 1, 92289004: 92289004
29 GLMN NM_053274.2(GLMN): c.271G> A (p.Asp91Asn) single nucleotide variant Likely benign rs144577963 GRCh37 Chromosome 1, 92756989: 92756989
30 GLMN NM_053274.2(GLMN): c.271G> A (p.Asp91Asn) single nucleotide variant Likely benign rs144577963 GRCh38 Chromosome 1, 92291432: 92291432
31 GLMN NM_053274.2(GLMN): c.-44G> A single nucleotide variant Uncertain significance rs886046548 GRCh38 Chromosome 1, 92298938: 92298938
32 GLMN NM_053274.2(GLMN): c.-54T> G single nucleotide variant Likely benign rs145401012 GRCh38 Chromosome 1, 92298948: 92298948
33 GLMN NM_053274.2(GLMN): c.-54T> G single nucleotide variant Likely benign rs145401012 GRCh37 Chromosome 1, 92764505: 92764505
34 GLMN NM_053274.2(GLMN): c.-85G> T single nucleotide variant Uncertain significance rs886046549 GRCh38 Chromosome 1, 92298979: 92298979
35 GLMN NM_053274.2(GLMN): c.-85G> T single nucleotide variant Uncertain significance rs886046549 GRCh37 Chromosome 1, 92764536: 92764536
36 GLMN NM_053274.2(GLMN): c.1057T> C (p.Tyr353His) single nucleotide variant Likely benign rs149792649 GRCh38 Chromosome 1, 92267954: 92267954
37 GLMN NM_053274.2(GLMN): c.1057T> C (p.Tyr353His) single nucleotide variant Likely benign rs149792649 GRCh37 Chromosome 1, 92733511: 92733511
38 GLMN NM_053274.2(GLMN): c.1007T> C (p.Leu336Ser) single nucleotide variant Likely benign rs35258161 GRCh38 Chromosome 1, 92268106: 92268106
39 GLMN NM_053274.2(GLMN): c.1007T> C (p.Leu336Ser) single nucleotide variant Likely benign rs35258161 GRCh37 Chromosome 1, 92733663: 92733663
40 GLMN NM_053274.2(GLMN): c.977+9G> A single nucleotide variant Likely benign rs142642620 GRCh38 Chromosome 1, 92269714: 92269714
41 GLMN NM_053274.2(GLMN): c.977+9G> A single nucleotide variant Likely benign rs142642620 GRCh37 Chromosome 1, 92735271: 92735271
42 GLMN NM_053274.2(GLMN): c.765C> T (p.Phe255=) single nucleotide variant Likely benign rs149618929 GRCh37 Chromosome 1, 92737180: 92737180
43 GLMN NM_053274.2(GLMN): c.765C> T (p.Phe255=) single nucleotide variant Likely benign rs149618929 GRCh38 Chromosome 1, 92271623: 92271623
44 GLMN NM_053274.2(GLMN): c.437C> T (p.Ala146Val) single nucleotide variant Uncertain significance rs756248885 GRCh37 Chromosome 1, 92754666: 92754666
45 GLMN NM_053274.2(GLMN): c.437C> T (p.Ala146Val) single nucleotide variant Uncertain significance rs756248885 GRCh38 Chromosome 1, 92289109: 92289109
46 GLMN NM_053274.2(GLMN): c.165+10A> G single nucleotide variant Likely benign rs201467961 GRCh37 Chromosome 1, 92762951: 92762951
47 GLMN NM_053274.2(GLMN): c.165+10A> G single nucleotide variant Likely benign rs201467961 GRCh38 Chromosome 1, 92297394: 92297394
48 GLMN NM_053274.2(GLMN): c.144T> G (p.Ile48Met) single nucleotide variant Likely benign rs142032681 GRCh37 Chromosome 1, 92762982: 92762982
49 GLMN NM_053274.2(GLMN): c.144T> G (p.Ile48Met) single nucleotide variant Likely benign rs142032681 GRCh38 Chromosome 1, 92297425: 92297425
50 GLMN NM_053274.2(GLMN): c.40-6dupT duplication Uncertain significance rs767338275 GRCh38 Chromosome 1, 92297535: 92297535

Expression for Glomuvenous Malformations

Search GEO for disease gene expression data for Glomuvenous Malformations.

Pathways for Glomuvenous Malformations

GO Terms for Glomuvenous Malformations

Sources for Glomuvenous Malformations

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
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38 LifeMap
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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