MCID: ELS005
MIFTS: 24

Elastoma

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Elastoma

MalaCards integrated aliases for Elastoma:

Name: Elastoma 60
Nevus Elasticus 60 74
Juvenile Elastoma Without Osteopoikilosis 60
Weidman Juvenile Elastoma 60

Characteristics:

Orphanet epidemiological data:

60
elastoma
Inheritance: Not applicable; Age of onset: Childhood;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Orphanet 60 ORPHA228254
UMLS 74 C0473583

Summaries for Elastoma

MalaCards based summary : Elastoma, also known as nevus elasticus, is related to buschke-ollendorff syndrome and elastosis perforans serpiginosa. An important gene associated with Elastoma is LEMD3 (LEM Domain Containing 3). The drugs Magnesium oxide and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and endothelial.

Wikipedia : 77 A connective tissue nevus may be present at birth or appear within the first few years, is elevated,... more...

Related Diseases for Elastoma

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 buschke-ollendorff syndrome 11.7
2 elastosis perforans serpiginosa 11.5
3 pseudoxanthoma elasticum 11.3
4 osteopoikilosis 10.4
5 lichen sclerosus 10.3
6 darier-white disease 10.3
7 keratosis 10.3
8 lichen sclerosus et atrophicus 10.2
9 squamous cell carcinoma 10.2
10 craniosynostosis 10.1
11 leukoplakia 10.1

Graphical network of the top 20 diseases related to Elastoma:



Diseases related to Elastoma

Symptoms & Phenotypes for Elastoma

Drugs & Therapeutics for Elastoma

Drugs for Elastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium oxide Approved Phase 2 1309-48-4 14792
2
Ranibizumab Approved Phase 2,Phase 1 347396-82-1 459903
3 Antacids Phase 2
4 Anti-Ulcer Agents Phase 2
5 Gastrointestinal Agents Phase 2
6 Magnesium Supplement Phase 2
7 Endothelial Growth Factors Phase 2
8 Mitogens Phase 2
9 Angiogenesis Inhibitors Phase 2,Phase 1
10 Angiogenesis Modulating Agents Phase 2,Phase 1
11
Phylloquinone Approved, Investigational Not Applicable 84-80-0
12 Menaquinone Approved, Investigational Not Applicable 1182-68-9
13
Calcium Approved, Nutraceutical ,Not Applicable 7440-70-2 271
14
Menadione Approved, Nutraceutical Not Applicable 58-27-5 4055
15 Hormones
16 Calcium, Dietary ,Not Applicable
17 Fluorodeoxyglucose F18 Not Applicable
18 Micronutrients Not Applicable
19 Vitamins Not Applicable
20 Antifibrinolytic Agents Not Applicable
21 Hemostatics Not Applicable
22 Coagulants Not Applicable
23 Vitamin K 2 Not Applicable
24 Vitamin MK 7 Not Applicable
25 Nutrients Not Applicable
26 naphthoquinone Not Applicable
27 Vitamin K Not Applicable
28 Trace Elements Not Applicable

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Magnesium Supplements In The Treatment Of Pseudoxanthoma Elasticum (PXE) Completed NCT01525875 Phase 2 Magnesium Oxide;Placebo
2 Intravitreal Aflibercept for Therapy of Patients With Pseudoxanthoma Elasticum (PXE) Completed NCT02537054 Phase 2 Aflibercept
3 Ranibizumab to Treat Choroidal Neovascularization (CNV) in Patients With Pseudoxanthoma Elasticum (PXE) Completed NCT00510965 Phase 2 Intravitreal injection ranibizumab
4 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
5 Phase II Study Evaluating the Efficacy of Aflibercept for the Treatment of Choroidal Neovascularization in Angioid Streaks in Young Patients (ASTRID). Withdrawn NCT02573038 Phase 2 Aflibercept
6 Arterial Wall Calcium Load in Pseudoxanthoma Elasticum Unknown status NCT01731080
7 Evolution of Visual Impairment During Pseudoxanthoma Elasticum Completed NCT00555113
8 Functional and Structural Characterization of Arteriopathy in Pseudoxanthoma Elasticum (PXE) Completed NCT01446393
9 Genetic Analysis of Patients With Pseudoxanthoma Elasticum Completed NCT00341419
10 What's Happen Under the Calcification Process in Pseudoxanthoma Elasticum Completed NCT03070860 Not Applicable
11 Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort Recruiting NCT01446380
12 Intestinal Microbiota and Vitamin K Levels in PXE Patients (IMPROVE Study) Recruiting NCT03813550 Not Applicable
13 Natural History of GACI With or Without ARHR2 or PXE Recruiting NCT03758534
14 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
15 Characterization of Pseudoxanthoma Elasticum Active, not recruiting NCT02108392
16 Biological Collection of Kidney Cells Not yet recruiting NCT03364504 Not Applicable
17 Tissue-nonspecific Alkaline Phosphatase in Phosphate and Pyrophosphate Homeostasis. Not yet recruiting NCT03520738 Not Applicable

Search NIH Clinical Center for Elastoma

Genetic Tests for Elastoma

Anatomical Context for Elastoma

MalaCards organs/tissues related to Elastoma:

42
Skin, Kidney, Endothelial, Bone

Publications for Elastoma

Articles related to Elastoma:

(show all 28)
# Title Authors Year
1
Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome? ( 29023873 )
2017
2
Acquired elastoma in a subungual location. ( 29469722 )
2017
3
Papillary fibro-elastoma as a rare cause of rate-dependent angina: importance of diastolic coronary perfusion. ( 26985075 )
2016
4
Elastoma: clinical and histopathological aspects of a rare disease. ( 28300889 )
2016
5
Lichen sclerosus on the penis associated with striking elastic fibers accumulation (nevus elasticus) and differentiated penile intraepithelial neoplasia progressing to invasive squamous cell carcinoma. ( 27051718 )
2015
6
Cardiac valve papillary fibro-elastoma: a report on three different clinical cases. ( 21158337 )
2010
7
Coronary embolism from mitral fibro-elastoma. ( 16829113 )
2006
8
Juvenile elastoma: a forme fruste of the Buschke-Ollendorff syndrome? ( 16197425 )
2005
9
Cerebriform elastoma: an unusual presentation of actinic elastosis. ( 15928645 )
2005
10
Right atrial papillary elastoma: an uncommon location. ( 15053791 )
2004
11
Surgical repair for aortic valve fibro-elastoma: a case report. ( 15285547 )
2004
12
Elastic fibers in dermis of juvenile elastoma. ( 9519601 )
1998
13
Familial juvenile elastoma. ( 7702495 )
1994
14
A new type of connective tissue nevus: isolated exophytic elastoma. ( 1774356 )
1991
15
Nevus elasticus and lichen sclerosus et atrophicus on the vulva. ( 2328619 )
1990
16
Acrogeria with perforating elastoma and bony abnormalities. ( 6209898 )
1984
17
Juvenile elastoma and osteopoikilosis (the Buschke-Ollendorf syndrome). ( 7094399 )
1982
18
Juvenile elastoma (Weidman). An ultrastructural study. ( 7198130 )
1981
19
Juvenile elastoma and osteopoikilosis (the Buschke--Ollendorff syndrome). ( 588450 )
1977
20
Juvenile elastoma with osteopoikilosis. ( 5767072 )
1969
21
Naevus elasticus (elastoma juvenile Weidman) and naevus collagenicus lumbosacralis in Pringle's disease. ( 5670092 )
1968
22
Familial juvenile elastoma: osteopoikilosis (2 cases). ( 6066572 )
1967
23
Nevus elasticus and nevus elasticus vascularis. ( 13916301 )
1961
24
Miescher's elastoma (elastoma intrapapillare perforans verruciforme). ( 13628920 )
1959
25
Patchy senile elastoma of the lip resembling leukoplakia. ( 13822840 )
1959
26
Keratosis follicularis serpiginosa Lutz; elastoma intrapapillare perforans verruciforme Miescher. ( 13537607 )
1958
27
Keratosis follicularis serpiginosa (Lutz); elastoma intrapapillare perforans verruciforme (Miescher). ( 13460177 )
1957
28
Keratosis follicularis serpiginosa (Lutz); elastoma intrapapillare perforans verruciforme (Miescher), clinical and histological study of a new case. ( 13356633 )
1956

Variations for Elastoma

Expression for Elastoma

Search GEO for disease gene expression data for Elastoma.

Pathways for Elastoma

GO Terms for Elastoma

Sources for Elastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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