MCID: DFF013
MIFTS: 20

Diffuse Meningeal Melanocytosis

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Diffuse Meningeal Melanocytosis

MalaCards integrated aliases for Diffuse Meningeal Melanocytosis:

Name: Diffuse Meningeal Melanocytosis 12 15
Diffuse Melanocytosis 12 17 71
Diffuse Melanosis 12

Classifications:



External Ids:

Disease Ontology 12 DOID:6379
NCIt 50 C6890
SNOMED-CT 67 128729004
UMLS 71 C1266112

Summaries for Diffuse Meningeal Melanocytosis

MalaCards based summary : Diffuse Meningeal Melanocytosis, also known as diffuse melanocytosis, is related to nodular malignant melanoma and skin melanoma, and has symptoms including seizures An important gene associated with Diffuse Meningeal Melanocytosis is MLANA (Melan-A), and among its related pathways/superpathways is Phenylalanine metabolism. Related phenotypes are no phenotypic analysis and pigmentation

Related Diseases for Diffuse Meningeal Melanocytosis

Diseases related to Diffuse Meningeal Melanocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 nodular malignant melanoma 30.0 TYR MLANA
2 skin melanoma 29.5 TYR PMEL MLANA
3 melanoma 10.3
4 meningeal melanocytoma 10.2 MLANA MIB1
5 central nervous system melanocytic neoplasm 10.2 MLANA MIB1
6 malignant leptomeningeal tumor 10.2 TYR MLANA
7 meningeal melanoma 10.2 TYR MLANA
8 ciliary body cancer 10.2 TYR MLANA
9 sarcomatoid transitional cell carcinoma 10.2 TYR MLANA
10 melanomatosis 10.2 TYR MLANA
11 epithelioid cell melanoma 10.2 TYR MLANA
12 orbit rhabdomyosarcoma 10.1 TYR MLANA
13 orofacial cleft 8 10.1 TYR MLANA
14 amelanotic melanoma 10.1 TYR MLANA
15 keratosis, seborrheic 10.1 TYR MLANA
16 angiomyolipoma 10.1 TYR MLANA
17 gallbladder melanoma 10.1 PMEL MLANA
18 clear cell sarcoma 10.1 TYR MLANA
19 juvenile xanthogranuloma 10.1 PMEL MLANA
20 skin benign neoplasm 10.1 TYR MLANA
21 waardenburg syndrome, type 4b 10.0 TYR PMEL
22 waardenburg syndrome, type 2e 10.0 TYR PMEL
23 dowling-degos disease 1 10.0
24 ocular albinism 10.0 TYR MLANA
25 autoimmune disease of skin and connective tissue 10.0 TYR PMEL
26 vogt-koyanagi-harada disease 10.0 TYR PMEL
27 uveal disease 10.0 TYR PMEL
28 melanoacanthoma 9.9 TYR PMEL MLANA
29 halo nevi 9.9 TYR PMEL MLANA
30 malignant spindle cell melanoma 9.9 TYR PMEL MLANA
31 melanoma in congenital melanocytic nevus 9.9 TYR PMEL MLANA
32 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9 TYR PMEL MLANA
33 colorectal cancer 9.9
34 hemopericardium 9.9
35 pericardial effusion 9.9
36 vulvar melanoma 9.9
37 neurilemmoma 9.9
38 acral lentiginous melanoma 9.9
39 placenta disease 9.9
40 melanoma, cutaneous malignant 1 9.9 TYR PMEL MLANA
41 lymphangioleiomyomatosis 9.8 TYR PMEL
42 spinal cord melanoma 9.7 TYR MLANA HGF
43 neurofibroma 9.7 TYR MLANA HGF
44 alcoholic liver cirrhosis 9.7 HGF ADH1B
45 oculocutaneous albinism 9.7 TYR PMEL
46 dry eye syndrome 9.7 S100A9 HGF
47 microphthalmia 9.7 TYR PMEL MLANA
48 skin disease 9.6 TYR S100A9 EXPH5
49 melanoma, uveal 9.4 TYR PMEL MLANA HGF

Graphical network of the top 20 diseases related to Diffuse Meningeal Melanocytosis:



Diseases related to Diffuse Meningeal Melanocytosis

Symptoms & Phenotypes for Diffuse Meningeal Melanocytosis

UMLS symptoms related to Diffuse Meningeal Melanocytosis:


seizures

MGI Mouse Phenotypes related to Diffuse Meningeal Melanocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.35 HGF MIB1 MLANA PMEL TYR
2 pigmentation MP:0001186 8.92 HGF MLANA PMEL TYR

Drugs & Therapeutics for Diffuse Meningeal Melanocytosis

Search Clinical Trials , NIH Clinical Center for Diffuse Meningeal Melanocytosis

Genetic Tests for Diffuse Meningeal Melanocytosis

Anatomical Context for Diffuse Meningeal Melanocytosis

Publications for Diffuse Meningeal Melanocytosis

Articles related to Diffuse Meningeal Melanocytosis:

# Title Authors PMID Year
1
An Uncommon Case of Primary Leptomeningeal Melanoma in a 66-Year-Old White Caucasian Male. 61
33163297 2020
2
C6-T1 Intradural Extramedullary Ventral Meningeal Melanocytoma Resected Via Anterior Corpectomy with Reconstruction. 61
32251820 2020
3
Neurocutaneous Melanosis in an Adult Patient with Intracranial Primary Malignant Melanoma: Case Report and Review of the Literature. 61
29530698 2018
4
An uncommon mimic of spontaneous subarachnoid haemorrhage. 61
23378361 2013
5
Primary melanocytic tumors of the central nervous system: a neuroradiological and clinicopathological study of five cases and brief review of literature. 61
21743173 2011
6
Black brain: transformation of a melanocytoma with diffuse melanocytosis into a primary cerebral melanoma. 61
20640479 2011
7
Pigmented lesions of the central nervous system: radiologic-pathologic correlation. 61
19755608 2009
8
Progressive brainstem compression in an infant with neurocutaneous melanosis and Dandy-Walker complex following ventriculoperitoneal shunt placement for hydrocephalus. Case report. 61
18154021 2007
9
Primary melanocytic lesions of the CNS: report of five cases. 61
15306980 2004
10
Glaucoma in phakomatosis pigmentovascularis. 61
9022120 1997

Variations for Diffuse Meningeal Melanocytosis

Expression for Diffuse Meningeal Melanocytosis

Search GEO for disease gene expression data for Diffuse Meningeal Melanocytosis.

Pathways for Diffuse Meningeal Melanocytosis

Pathways related to Diffuse Meningeal Melanocytosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.52 TYR ADH1B

GO Terms for Diffuse Meningeal Melanocytosis

Cellular components related to Diffuse Meningeal Melanocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 8.8 TYR PMEL MLANA

Biological processes related to Diffuse Meningeal Melanocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanin biosynthetic process GO:0042438 8.62 TYR PMEL

Sources for Diffuse Meningeal Melanocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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