GVM
MCID: GLM012
MIFTS: 29

Glomuvenous Malformations (GVM)

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 58 76 30 13 6 74
Venous Malformations with Glomus Cells 58 60
Glomus Tumors, Multiple 58 56
Glomangiomatosis 60 74
Vmglom 58 60
Venous Malformations with Glomus Cells; Vmglom 58
Hereditary Multiple Glomangiomas 60
Malformations, Glomuvenous 41
Glomuvenous Malformation 60
Glomangiomas, Multiple 58
Multiple Glomus Tumors 60
Gvms 76
Gvm 58

Characteristics:

Orphanet epidemiological data:

60
glomuvenous malformation
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
glomuvenous malformations:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 138000
MESH via Orphanet 46 C536827
ICD10 via Orphanet 35 Q27.8
UMLS via Orphanet 75 C1841984
Orphanet 60 ORPHA83454
MedGen 43 C1841984
SNOMED-CT via HPO 70 199879009 263681008 95320005

Summaries for Glomuvenous Malformations

OMIM : 58 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 : 76 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 18)
# Related Disease Score Top Affiliating Genes
1 venous malformations, multiple cutaneous and mucosal 31.3 GLMN KRIT1
2 human venous malformation 30.1 GLMN KRIT1
3 glomangiomatosis 12.3
4 glomangioma 10.3
5 distichiasis 10.1
6 macrodactyly 10.1
7 vesicoureteral reflux 1 10.1
8 ascites, chylous 10.1
9 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.1
10 alopecia 10.1
11 microcephaly 10.1
12 lipoblastoma 10.1
13 spitz nevus 10.1
14 neurofibromatosis, type iv, of riccardi 9.9
15 hemangioma 9.9
16 glomus tumor 9.9
17 gardner-diamond syndrome 9.9
18 klippel-trenaunay-weber syndrome 9.8 GLMN KRIT1

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



Diseases related to Glomuvenous Malformations

Symptoms & Phenotypes for Glomuvenous Malformations

Human phenotypes related to Glomuvenous Malformations:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 abnormality of the skin 33 HP:0000951

Symptoms via clinical synopsis from OMIM:

58
Skin:
multiple glomus tumors

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

Clinical features from OMIM:

138000

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 30 GLMN

Anatomical Context for Glomuvenous Malformations

MalaCards organs/tissues related to Glomuvenous Malformations:

42
Smooth Muscle, Skin

Publications for Glomuvenous Malformations

Articles related to Glomuvenous Malformations:

(show all 34)
# Title Authors Year
1
Glomulin gene c.157_161del mutation in a family with multiple glomuvenous malformations. ( 30460983 )
2019
2
Glomulin mutation and glomuvenous malformations: two case reports with the same mutation but different phenotypes. ( 30325312 )
2018
3
Glomuvenous malformations in a young man. ( 30677819 )
2018
4
Glomuvenous malformations: dual PDL-Nd:YAG laser approach. ( 29594737 )
2018
5
Color Doppler Ultrasound Study of Glomuvenous Malformations with its Clinical and Histologic Correlations. ( 28683898 )
2018
6
Multiple, neonatal, self-healing, cutaneous glomuvenous malformations. ( 28164891 )
2017
7
Smoothelin and WT-1 expression in glomus tumors and glomuvenous malformations. ( 27184662 )
2017
8
Plaque-type glomuvenous malformations in a child. ( 26211830 )
2015
9
Long-Pulsed Neodymium-Doped Yttrium Aluminum Garnet Laser for Glomuvenous Malformations in Adolescents. ( 26138991 )
2015
10
Loss of heterozygosity in a case of glomuvenous malformations. ( 25809388 )
2015
11
Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations. ( 24961656 )
2014
12
Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting. ( 24345188 )
2014
13
Plaque-type glomuvenous malformations successfully treated using combined pulsed dye laser and neodymium-doped yttrium aluminum garnet laser. ( 24238065 )
2014
14
Multiple glomuvenous malformations presenting in a child: follow-up over a period of 8 years. ( 23853196 )
2013
15
A case of congenital plaque-type glomuvenous malformations. ( 23691933 )
2013
16
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. ( 23375657 )
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
Unilateral glomuvenous malformations. ( 17373995 )
2007
26
Glomuvenous malformations. ( 17511950 )
2007
27
Genetic analysis of a family with hereditary glomuvenous malformations. ( 17680968 )
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
33
Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC. ( 11175297 )
2001
34
High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22. ( 10945476 )
2000

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 NM_053274.2(GLMN): c.736-2886_1214+254delinsGG indel Pathogenic GRCh38 Chromosome 1, 92266165: 92274538
2 GLMN NM_053274.2(GLMN): c.736-2886_1214+254delinsGG indel Pathogenic GRCh37 Chromosome 1, 92731722: 92740095
3 GLMN GLMN, 5-BP DEL, 980CAGAA deletion Pathogenic
4 GLMN NM_053274.2(GLMN): c.157_161delAAGAA (p.Lys53Terfs) deletion Pathogenic rs762515373 GRCh37 Chromosome 1, 92762965: 92762969
5 GLMN NM_053274.2(GLMN): c.157_161delAAGAA (p.Lys53Terfs) deletion Pathogenic rs762515373 GRCh38 Chromosome 1, 92297408: 92297412
6 GLMN NM_053274.2(GLMN): c.1179_1181delCAA (p.Asn393del) deletion Pathogenic rs773442562 GRCh37 Chromosome 1, 92732009: 92732011
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.1635G> A (p.Glu545=) single nucleotide variant Uncertain significance rs376960198 GRCh38 Chromosome 1, 92247095: 92247095
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 GRCh37 Chromosome 1, 92712652: 92712652
26 GLMN NM_053274.2(GLMN): c.542T> C (p.Ile181Thr) single nucleotide variant Likely benign rs139873200 GRCh38 Chromosome 1, 92289004: 92289004
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.271G> A (p.Asp91Asn) single nucleotide variant Likely benign rs144577963 GRCh37 Chromosome 1, 92756989: 92756989
29 GLMN NM_053274.2(GLMN): c.271G> A (p.Asp91Asn) single nucleotide variant Likely benign rs144577963 GRCh38 Chromosome 1, 92291432: 92291432
30 GLMN NM_053274.2(GLMN): c.-44G> A single nucleotide variant Uncertain significance rs886046548 GRCh38 Chromosome 1, 92298938: 92298938
31 GLMN NM_053274.2(GLMN): c.-44G> A single nucleotide variant Uncertain significance rs886046548 GRCh37 Chromosome 1, 92764495: 92764495
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.1474-15_1474-12delTTTC deletion Likely benign rs535813981 GRCh38 Chromosome 1, 92248001: 92248004
35 GLMN NM_053274.2(GLMN): c.1474-15_1474-12delTTTC deletion Likely benign rs535813981 GRCh37 Chromosome 1, 92713558: 92713561
36 GLMN NM_053274.2(GLMN): c.1159A> G (p.Met387Val) single nucleotide variant Likely benign rs78101774 GRCh38 Chromosome 1, 92266474: 92266474
37 GLMN NM_053274.2(GLMN): c.1159A> G (p.Met387Val) single nucleotide variant Likely benign rs78101774 GRCh37 Chromosome 1, 92732031: 92732031
38 GLMN NM_053274.2(GLMN): c.1022A> G (p.Asn341Ser) single nucleotide variant Uncertain significance rs147889200 GRCh38 Chromosome 1, 92267989: 92267989
39 GLMN NM_053274.2(GLMN): c.1022A> G (p.Asn341Ser) single nucleotide variant Uncertain significance rs147889200 GRCh37 Chromosome 1, 92733546: 92733546
40 GLMN NM_053274.2(GLMN): c.977+7T> A single nucleotide variant Likely benign rs61758979 GRCh38 Chromosome 1, 92269716: 92269716
41 GLMN NM_053274.2(GLMN): c.977+7T> A single nucleotide variant Likely benign rs61758979 GRCh37 Chromosome 1, 92735273: 92735273
42 GLMN NM_053274.2(GLMN): c.761C> G (p.Pro254Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs145762716 GRCh38 Chromosome 1, 92271627: 92271627
43 GLMN NM_053274.2(GLMN): c.761C> G (p.Pro254Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs145762716 GRCh37 Chromosome 1, 92737184: 92737184
44 GLMN NM_053274.2(GLMN): c.581A> G (p.Asn194Ser) single nucleotide variant Likely benign rs532530906 GRCh38 Chromosome 1, 92288965: 92288965
45 GLMN NM_053274.2(GLMN): c.581A> G (p.Asn194Ser) single nucleotide variant Likely benign rs532530906 GRCh37 Chromosome 1, 92754522: 92754522
46 GLMN NM_053274.2(GLMN): c.526T> C (p.Cys176Arg) single nucleotide variant Uncertain significance rs886046547 GRCh37 Chromosome 1, 92754577: 92754577
47 GLMN NM_053274.2(GLMN): c.526T> C (p.Cys176Arg) single nucleotide variant Uncertain significance rs886046547 GRCh38 Chromosome 1, 92289020: 92289020
48 GLMN NM_053274.2(GLMN): c.436G> A (p.Ala146Thr) single nucleotide variant Benign/Likely benign rs61754623 GRCh37 Chromosome 1, 92754667: 92754667
49 GLMN NM_053274.2(GLMN): c.436G> A (p.Ala146Thr) single nucleotide variant Benign/Likely benign rs61754623 GRCh38 Chromosome 1, 92289110: 92289110
50 GLMN NM_053274.2(GLMN): c.-85G> T single nucleotide variant Uncertain significance rs886046549 GRCh38 Chromosome 1, 92298979: 92298979

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

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17 EFO
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63 PubMed
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