MCID: TCH005
MIFTS: 28

Tièche-Jadassohn Nevus

Categories: Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Tièche-Jadassohn Nevus

MalaCards integrated aliases for Tièche-Jadassohn Nevus:

Name: Tièche-Jadassohn Nevus 52
Blue Nevus 52 6 17
Benign Mesenchymal Melanoma 52
Jadassohn-Tièche Syndrome 52
Jadassohn-Tièche Nevus 52
Blue Neuronevus 52
Mongolian Spot 71
Nevus, Blue 71

Classifications:



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UMLS 71 C0206736 C0265985

Summaries for Tièche-Jadassohn Nevus

MalaCards based summary : Tièche-Jadassohn Nevus, also known as blue nevus, is related to carney complex variant and blue nevi, familial multiple. The drugs Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and cervix.

Wikipedia : 74 Blue nevus (also known as "blue neuronevus", "dermal melanocytoma", "nevus coeruleus" and "nevus bleu")... more...

Related Diseases for Tièche-Jadassohn Nevus

Diseases related to Tièche-Jadassohn Nevus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 carney complex variant 12.1
2 blue nevi, familial multiple 11.3
3 melanoma 10.7
4 nevus of ota 10.5
5 skin melanoma 10.4
6 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
7 spitz nevus 10.4
8 cutaneous fibrous histiocytoma 10.3
9 hard palate cancer 10.3
10 mongolian spot 10.2
11 neurofibroma 10.2
12 lentigines 10.2
13 dowling-degos disease 1 10.2
14 basal cell carcinoma 10.2
15 rare tumor 10.2
16 blue rubber bleb nevus 10.2
17 melanoma, uveal 10.2
18 nodular malignant melanoma 10.2
19 prostatic hypertrophy 10.2
20 hemangioma 10.2
21 prostatic adenoma 10.2
22 neurilemmoma 10.2
23 melanosis, neurocutaneous 10.1
24 prostatic hyperplasia, benign 10.1
25 microphthalmia 10.1
26 malignant conjunctival melanoma 10.1
27 clear cell sarcoma 10.1
28 posttransplant acute limbic encephalitis 10.1
29 argyria 10.1
30 pilonidal sinus 10.0
31 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
32 meningioma, radiation-induced 10.0
33 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
34 meningioma, familial 10.0
35 epidermolysis bullosa, nonspecific, autosomal recessive 10.0
36 spitzoid melanoma 10.0
37 spinal meningioma 10.0
38 malignant spindle cell melanoma 10.0
39 skin benign neoplasm 10.0
40 secretory meningioma 10.0
41 lymphoplasmacyte-rich meningioma 10.0
42 cutis verticis gyrata 10.0
43 breast cancer 9.8
44 colorectal cancer 9.8
45 esophageal cancer 9.8
46 retinal detachment 9.8
47 adenomyosis 9.8
48 leukemia, acute lymphoblastic 9.8
49 deficiency anemia 9.8
50 cutaneous lupus erythematosus 9.8

Symptoms & Phenotypes for Tièche-Jadassohn Nevus

Drugs & Therapeutics for Tièche-Jadassohn Nevus

Drugs for Tièche-Jadassohn Nevus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
2
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4 Immunologic Factors Phase 4
5 Antibiotics, Antitubercular Phase 4
6 Antifungal Agents Phase 4
7 Anti-Bacterial Agents Phase 4
8 Immunosuppressive Agents Phase 4
9 Anti-Infective Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Rapamycin (Sirolimus) in the Treatment of Blue Rubber Bleb Nevus Syndrome, Hereditary or Sporadic Venous Malformation Recruiting NCT03767660 Phase 4 Rapamycin

Search NIH Clinical Center for Tièche-Jadassohn Nevus

Genetic Tests for Tièche-Jadassohn Nevus

Anatomical Context for Tièche-Jadassohn Nevus

MalaCards organs/tissues related to Tièche-Jadassohn Nevus:

40
Skin, Prostate, Cervix, Lymph Node, Smooth Muscle, Brain, Colon

Publications for Tièche-Jadassohn Nevus

Articles related to Tièche-Jadassohn Nevus:

(show top 50) (show all 666)
# Title Authors PMID Year
1
Treatment response to checkpoint immunotherapy in a patient with a melanoma ex blue nevus. 61
31518011 2020
2
Generalized congenital epithelioid blue nevi (pigmented epithelioid melanocytomas) in an infant: Report of case and review of the literature. 61
31283031 2019
3
GNAQQ209L expression initiated in multipotent neural crest cells drives aggressive melanoma of the central nervous system. 61
31680437 2019
4
Compound blue nevus: a reappraisal of the concept in the genomic era. 61
31754815 2019
5
CYSLTR2-mutant Cutaneous Melanocytic Neoplasms Frequently Simulate "Pigmented Epithelioid Melanocytoma," Expanding the Morphologic Spectrum of Blue Tumors: A Clinicopathologic Study of 7 Cases. 61
31162285 2019
6
Melanocytoma of the Conjunctiva: Clinicopathologic Features of Three Cases. 61
31367593 2019
7
Blue Nevus Developing at a Combined Tetanus, Diphtheria, and Pertussis (Tdap) Vaccination Site: Case Report and Summary of Vaccine-Associated Cutaneous Lesions. 61
31497428 2019
8
Nevus of Ota - an intraoral presentation: a case report. 61
31171040 2019
9
A cellular blue nevus with pigmented epithelioid melanocytoma-like pattern on the ipsilateral upper arm associated with a congenital plaque-type blue nevus on the hand. 61
30719746 2019
10
A diagnostically-challenging case of melanoma ex blue nevus with comprehensive molecular analysis, including the 23-gene expression signature (myPath melanoma). 61
30506910 2019
11
Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas. 61
30601876 2019
12
Osteoma Cutis Arising in Common Blue Nevus (Blue Osteonevus): A Clinicopathologic, Immunohistochemical, and Dermoscopic Study. 61
29933316 2019
13
Agminated blue nevus with a GNAQ mutation: A case report and review of the literature. 61
30315589 2019
14
Atypical Cellular Blue Nevus of the Foot: A Case Report. 61
31049319 2019
15
Unusual melanoma of the scalp with blue nevus-like features and local metastasis: A case report. 61
31065360 2019
16
Integrated Genomic Classification of Melanocytic Tumors of the Central Nervous System Using Mutation Analysis, Copy Number Alterations, and DNA Methylation Profiling. 61
29891723 2018
17
Blue Nevi of the Ocular Surface: Clinical Characteristics, Pathologic Features, and Clinical Course. 61
29551421 2018
18
ALK Rearrangements Are Infrequent in Cellular Blue Nevus and Deep Penetrating Nevus. 61
29923908 2018
19
Orbital melanocytoma: When a tumor becomes a relieving surprise. 61
29687085 2018
20
Metastatic Blue Nevus-Like Melanoma Detected by Liquid-Based Catheterized Urine Cytology. 61
29853754 2018
21
Microphthalmia-associated transcription factor (MiTF): Promiscuous staining patterns in fibrohistiocytic lesions is a potential pitfall. 61
29773427 2018
22
Nevus Blue as a Sporadic Finding in a Patient with a Blue Toe? 61
29875860 2018
23
Blue Nevus With Satellite Lesions Mimicking Malignant Melanoma. 61
29074142 2018
24
Solitary pigmented lesions in oral mucosa in Latin American children: A case series. 61
29573458 2018
25
Malignant Blue Nevus: A Challenge for Dermatologists and Dermatopathologists. 61
28963027 2018
26
[Cellular blue nevus in lymph node parenchyma: report of a case]. 61
29534366 2018
27
Genomic Assessment of Blitz Nevi Suggests Classification as a Subset of Blue Nevus Rather Than Spitz Nevus: Clinical, Histopathologic, and Molecular Analysis of 18 Cases. 61
28475519 2018
28
Subungual Blue Nevus. 61
29017704 2018
29
Agminated segmental plaque-type blue nevus associated with hypertrichosis and soft tissue hypertrophy: Report of a case and review of the literature. 61
29023980 2018
30
A Rare Case of Multifocal Prostatic Blue Nevus. 61
29682392 2018
31
Genomic Analysis of Pigmented Epithelioid Melanocytomas Reveals Recurrent Alterations in PRKAR1A, and PRKCA Genes. 61
28796000 2017
32
Amelanotic Cellular Blue Nevus of the Eyelid. 61
27930423 2017
33
Blue Nevi and Related Tumors. 61
28802492 2017
34
Metastatic Cellular Blue Nevus: A Rare Case With Metastasis Beyond Regional Nodes. 61
28244937 2017
35
Pigmented Epithelioid Melanocytoma (PEM)/Animal Type Melanoma (ATM): Quest for an Origin. Report of One Unusual Case Indicating Follicular Origin and Another Arising in an Intradermal Nevus. 61
28809777 2017
36
Cellular Blue Nevus of Perilimbal Conjunctiva: A Case Report and Review of Literature. 61
28801376 2017
37
Dermal melanoma arising in a congenital large plaque-type blue nevus. 61
28622446 2017
38
SF3B1 and BAP1 mutations in blue nevus-like melanoma. 61
28409567 2017
39
Dermoscopic rainbow pattern in blue nevus. 61
29085723 2017
40
Orbital cellular blue nevus complicated by malignant melanoma. 61
28576220 2017
41
Blue nevus-like and blue nevus-associated melanoma: a comprehensive review of the literature. 61
28318130 2017
42
Estimating melanin location in the pigmented skin lesions by hue-saturation-lightness color space values of dermoscopic images. 61
28447351 2017
43
Balloon cell change in common blue nevus. 61
28146305 2017
44
Amelanotic blue nevus. 61
28280767 2017
45
Metastatic melanoma with features of blue nevus and tumoral melanosis identified during pembrolizumab therapy. 61
28367487 2017
46
5-Hydroxymethylcytosine is a nuclear biomarker to assess biological potential in histologically ambiguous heavily pigmented melanocytic neoplasms. 61
28032662 2017
47
Cyclin D1 and p16 Expression in Blue Nevi and Malignant Melanoma. 61
26766120 2017
48
Acquired blue nevus of the nail bed. 61
28329489 2017
49
Melanoma Is Skin Deep: A 3D Reconstruction Technique for Computerized Dermoscopic Skin Lesion Classification. 61
28512610 2017
50
Cellular Blue Nevus: An Unusual Localization. 61
29282187 2017

Variations for Tièche-Jadassohn Nevus

ClinVar genetic disease variations for Tièche-Jadassohn Nevus:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XX;ins(5;6)(p13;p24p25)dnTranslocation Pathogenic 267851
2 TBX5 NM_000192.3(TBX5):c.253C>A (p.Pro85Thr)SNV Likely pathogenic 626359 12:114837427-114837427 12:114399622-114399622

Expression for Tièche-Jadassohn Nevus

Search GEO for disease gene expression data for Tièche-Jadassohn Nevus.

Pathways for Tièche-Jadassohn Nevus

GO Terms for Tièche-Jadassohn Nevus

Sources for Tièche-Jadassohn Nevus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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