MCID: ELS005
MIFTS: 23

Elastoma

Categories: Skin diseases, Rare diseases, Bone diseases

Aliases & Classifications for Elastoma

MalaCards integrated aliases for Elastoma:

Name: Elastoma 59
Nevus Elasticus 59 73
Juvenile Elastoma Without Osteopoikilosis 59
Weidman Juvenile Elastoma 59

Characteristics:

Orphanet epidemiological data:

59
elastoma
Inheritance: Not applicable; Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA228254
UMLS 73 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 Ranibizumab and Magnesium oxide have been mentioned in the context of this disorder. Affiliated tissues include endothelial, skin and kidney.

Related Diseases for Elastoma

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

# Related Disease Score Top Affiliating Genes
1 buschke-ollendorff syndrome 11.5
2 elastosis perforans serpiginosa 11.3
3 pseudoxanthoma elasticum 11.1
4 osteopoikilosis 10.2
5 darier-white disease 10.1
6 keratosis 10.1
7 squamous cell carcinoma 10.0
8 lichen sclerosus 10.0
9 craniosynostosis 9.9
10 leukoplakia 9.9

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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 2,Phase 1 347396-82-1 459903
2
Magnesium oxide Approved Phase 2 1309-48-4 14792
3 Gastrointestinal Agents Phase 2
4 Angiogenesis Inhibitors Phase 2,Phase 1
5 Angiogenesis Modulating Agents Phase 2,Phase 1
6 Antacids Phase 2
7 Anti-Ulcer Agents Phase 2
8 Mitogens Phase 2
9 Endothelial Growth Factors Phase 2
10 Magnesium Supplement Nutraceutical Phase 2
11 Calcium, Dietary ,Not Applicable
12 Fluorodeoxyglucose F18 Not Applicable

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Magnesium Supplements In The Treatment Of Pseudoxanthoma Elasticum (PXE) Completed NCT01525875 Phase 2 Magnesium Oxide;Placebo
2 Ranibizumab to Treat Choroidal Neovascularization (CNV) in Patients With Pseudoxanthoma Elasticum (PXE) Completed NCT00510965 Phase 2 Intravitreal injection ranibizumab
3 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)
4 Intravitreal Aflibercept for Therapy of Patients With Pseudoxanthoma Elasticum (PXE) Active, not recruiting NCT02537054 Phase 2 Aflibercept
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 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
13 Characterization of Pseudoxanthoma Elasticum Active, not recruiting NCT02108392
14 Biological Collection of Kidney Cells Not yet recruiting NCT03364504 Not Applicable
15 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:

41
Endothelial, Skin, Kidney

Publications for Elastoma

Articles related to Elastoma:

(show all 27)
# Title Authors Year
1
Acquired elastoma in a subungual location. ( 29469722 )
2017
2
Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome? ( 29023873 )
2017
3
Elastoma: clinical and histopathological aspects of a rare disease. ( 28300889 )
2016
4
Papillary fibro-elastoma as a rare cause of rate-dependent angina: importance of diastolic coronary perfusion. ( 26985075 )
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
Buschke-Ollendorff syndrome: a 32-month-old boy with elastomas and craniosynostosis. ( 18577041 )
2008
8
Coronary embolism from mitral fibro-elastoma. ( 16829113 )
2006
9
Juvenile elastoma: a forme fruste of the Buschke-Ollendorff syndrome? ( 16197425 )
2005
10
Cerebriform elastoma: an unusual presentation of actinic elastosis. ( 15928645 )
2005
11
Surgical repair for aortic valve fibro-elastoma: a case report. ( 15285547 )
2004
12
Right atrial papillary elastoma: an uncommon location. ( 15053791 )
2004
13
Elastic fibers in dermis of juvenile elastoma. ( 9519601 )
1998
14
Familial juvenile elastoma. ( 7702495 )
1994
15
A new type of connective tissue nevus: isolated exophytic elastoma. ( 1774356 )
1991
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
Patchy senile elastoma of the lip resembling leukoplakia. ( 13822840 )
1959
24
Miescher's elastoma (elastoma intrapapillare perforans verruciforme). ( 13628920 )
1959
25
Keratosis follicularis serpiginosa Lutz; elastoma intrapapillare perforans verruciforme Miescher. ( 13537607 )
1958
26
Keratosis follicularis serpiginosa (Lutz); elastoma intrapapillare perforans verruciforme (Miescher). ( 13460177 )
1957
27
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 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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