MCID: GLM012
MIFTS: 30

Glomuvenous Malformations

Categories: Genetic diseases, Neuronal diseases, Cardiovascular diseases, Fetal 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
UMLS 73 C1841984

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 glomangiomatosis. 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 the skin and abnormality of metabolism/homeostasis

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 13)
# Related Disease Score Top Affiliating Genes
1 venous malformations, multiple cutaneous and mucosal 30.6 GLMN KRIT1
2 glomangiomatosis 12.2
3 glomangioma 10.3
4 distichiasis 9.9
5 vesicoureteral reflux 1 9.9
6 ascites, chylous 9.9
7 alopecia 9.9
8 microcephaly 9.9
9 glomus tumor 9.9
10 lipoblastoma 9.9
11 spitz nevus 9.9
12 human venous malformation 9.7 GLMN KRIT1
13 klippel-trenaunay-weber syndrome 9.6 GLMN KRIT1

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 the skin 32 HP:0000951
2 abnormality of metabolism/homeostasis 32 HP:0001939

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 38)
# Title Authors Year
1
Glomuvenous malformations: dual PDL-Nd:YAG laser approach. ( 29594737 )
2018
2
Multiple, neonatal, self-healing, cutaneous glomuvenous malformations. ( 28164891 )
2017
3
Color Doppler Ultrasound Study of Glomuvenous Malformations with its Clinical and Histologic Correlations. ( 28683898 )
2017
4
Smoothelin and WT-1 expression in glomus tumors and glomuvenous malformations. ( 27184662 )
2016
5
Multiple, neonatal, self-healing, cutaneous glomuvenous malformations. ( 28004650 )
2016
6
Long-Pulsed Neodymium-Doped Yttrium Aluminum Garnet Laser for Glomuvenous Malformations in Adolescents. ( 26138991 )
2015
7
Plaque-type glomuvenous malformations in a child. ( 26211830 )
2015
8
Loss of heterozygosity in a case of glomuvenous malformations. ( 25809388 )
2015
9
Disseminated cutaneous glomuvenous malformation. ( 25382523 )
2014
10
Glomuvenous malformation: magnetic resonance imaging findings. ( 24996811 )
2014
11
Subfascial involvement in glomuvenous malformation. ( 24577796 )
2014
12
Plaque-type glomuvenous malformations successfully treated using combined pulsed dye laser and neodymium-doped yttrium aluminum garnet laser. ( 24238065 )
2014
13
Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting. ( 24345188 )
2014
14
Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations. ( 24961656 )
2014
15
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. ( 23375657 )
2013
16
Multiple glomuvenous malformations presenting in a child: follow-up over a period of 8 years. ( 23853196 )
2013
17
A case of congenital plaque-type glomuvenous malformations. ( 23691933 )
2013
18
Spitz nevus arising upon a congenital glomuvenous malformation. ( 22304367 )
2013
19
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. ( 22407726 )
2012
20
The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin RING ligase-mediated turnover of Fbw7. ( 22405651 )
2012
21
Multiple disseminated glomuvenous malformations: do we know enough? ( 23303036 )
2012
22
Congenital plaque-type glomuvenous malformations associated with fetal pleural effusion and ascites. ( 21133993 )
2011
23
A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations. ( 22092580 )
2011
24
Glomuvenous Malformations (Familial generalized multiple glomangiomas). ( 22031635 )
2011
25
Congenital plaque-type glomuvenous malformation associated with chylous ascites. ( 21510024 )
2010
26
Glomuvenous malformations in the buccal area. ( 21119485 )
2010
27
A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma. ( 20055849 )
2009
28
Multiple congenital plaquelike glomuvenous malformations with type 2 segmental involvement. ( 19743719 )
2009
29
Glomuvenous malformation in a boy with transposition of the great vessels: a case report and review of literature. ( 19250411 )
2009
30
Genetic analysis of a family with hereditary glomuvenous malformations. ( 17680968 )
2007
31
[Glomulin mutations in glomuvenous malformation (glomangioma)]. ( 17384560 )
2007
32
Unilateral glomuvenous malformations. ( 17373995 )
2007
33
Glomuvenous malformations. ( 17511950 )
2007
34
Mutation analysis in Irish families with glomuvenous malformations. ( 16445774 )
2006
35
Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation. ( 16716158 )
2006
36
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. ( 15689436 )
2005
37
Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. ( 15313813 )
2004
38
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ('glomangiomas'). ( 11845407 )
2002

Variations for Glomuvenous Malformations

ClinVar genetic disease variations for Glomuvenous Malformations:

6
(show top 50) (show all 69)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLMN NM_053274.2(GLMN): c.157_161delAAGAA (p.Lys53Terfs) deletion Pathogenic rs762515373 GRCh37 Chromosome 1, 92762965: 92762969
2 GLMN NM_053274.2(GLMN): c.157_161delAAGAA (p.Lys53Terfs) deletion Pathogenic rs762515373 GRCh38 Chromosome 1, 92297408: 92297412
3 GLMN NM_053274.2(GLMN): c.736-2886_1214+254delinsGG indel Pathogenic GRCh38 Chromosome 1, 92266165: 92274538
4 GLMN NM_053274.2(GLMN): c.736-2886_1214+254delinsGG indel Pathogenic GRCh37 Chromosome 1, 92731722: 92740095
5 GLMN GLMN, 5-BP DEL, 980CAGAA deletion Pathogenic
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.*115G> C single nucleotide variant Benign rs2046620 GRCh38 Chromosome 1, 92246415: 92246415
23 GLMN NM_053274.2(GLMN): c.*115G> C single nucleotide variant Benign rs2046620 GRCh37 Chromosome 1, 92711972: 92711972
24 GLMN NM_053274.2(GLMN): c.1635G> A (p.Glu545=) single nucleotide variant Uncertain significance rs376960198 GRCh38 Chromosome 1, 92247095: 92247095
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 GRCh37 Chromosome 1, 92754561: 92754561
27 GLMN NM_053274.2(GLMN): c.542T> C (p.Ile181Thr) single nucleotide variant Likely benign rs139873200 GRCh38 Chromosome 1, 92289004: 92289004
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 Likely benign rs145762716 GRCh37 Chromosome 1, 92737184: 92737184
43 GLMN NM_053274.2(GLMN): c.761C> G (p.Pro254Arg) single nucleotide variant Likely benign rs145762716 GRCh38 Chromosome 1, 92271627: 92271627
44 GLMN NM_053274.2(GLMN): c.581A> G (p.Asn194Ser) single nucleotide variant Likely benign rs532530906 GRCh37 Chromosome 1, 92754522: 92754522
45 GLMN NM_053274.2(GLMN): c.581A> G (p.Asn194Ser) single nucleotide variant Likely benign rs532530906 GRCh38 Chromosome 1, 92288965: 92288965
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 Likely benign rs61754623 GRCh37 Chromosome 1, 92754667: 92754667
49 GLMN NM_053274.2(GLMN): c.436G> A (p.Ala146Thr) single nucleotide variant 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

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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