MCID: MLN070
MIFTS: 25

Melanoma-Astrocytoma Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Melanoma-Astrocytoma Syndrome

MalaCards integrated aliases for Melanoma-Astrocytoma Syndrome:

Name: Melanoma-Astrocytoma Syndrome 57 59 75
Melanoma and Neural System Tumor Syndrome 57 53 59 13
Melanoma Astrocytoma Syndrome 53 29 6 73
Syndrome, Melanoma Astrocytoma 40
Mast Syndrome ) 40
Masts 75

Characteristics:

Orphanet epidemiological data:

59
melanoma and neural system tumor syndrome
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
melanoma-astrocytoma syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 155755
Orphanet 59 ORPHA252206
UMLS via Orphanet 74 C1835042
MedGen 42 C1835042
UMLS 73 C1835042

Summaries for Melanoma-Astrocytoma Syndrome

UniProtKB/Swiss-Prot : 75 Melanoma-astrocytoma syndrome: Characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma.

MalaCards based summary : Melanoma-Astrocytoma Syndrome, also known as melanoma and neural system tumor syndrome, is related to mast-cell leukemia and mast-cell sarcoma. An important gene associated with Melanoma-Astrocytoma Syndrome is CDKN2A (Cyclin Dependent Kinase Inhibitor 2A). Related phenotypes are astrocytoma and cutaneous melanoma

Description from OMIM: 155755

Related Diseases for Melanoma-Astrocytoma Syndrome

Diseases related to Melanoma-Astrocytoma Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 mast-cell leukemia 12.5
2 mast-cell sarcoma 12.5
3 mast cell disease 12.4
4 mast cell neoplasm 12.4
5 mast syndrome 12.3
6 mast cell activation syndrome 12.3
7 monoclonal mast cell activation syndrome 12.2
8 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.1
9 aleukemic mast cell leukemia 12.1
10 systemic mastocytosis 12.0
11 classic mast cell leukemia 12.0
12 intra-abdominal lymph node mast cell malignancy 11.9
13 extracutaneous mastocytoma 11.6
14 diffuse cutaneous mastocytosis 11.5
15 mastocytic enterocolitis 11.4
16 sm-ahnmd 11.4
17 glioma susceptibility 1 11.2
18 urticaria pigmentosa 11.2
19 maculopapular cutaneous mastocytosis 11.2
20 cutaneous mastocytosis 11.2
21 pdgfrb-associated chronic eosinophilic leukemia 11.1
22 vibratory urticaria 11.0
23 cutaneous mastocytoma 11.0
24 hemangioma, capillary infantile 10.8
25 wheat allergy 10.8
26 cytokine deficiency 10.8
27 hereditary alpha tryptasemia syndrome 10.8
28 aggressive systemic mastocytosis 10.5
29 indolent systemic mastocytosis 10.5
30 lung cancer 10.4
31 leukemia 10.4
32 asthma 10.3
33 urticaria 10.3
34 melioidosis 10.2
35 sarcoma 10.2
36 mucositis 10.1
37 dermatitis 10.1
38 endotheliitis 10.1
39 peritonitis 10.1
40 rhinitis 10.1
41 dermatitis, atopic 10.0
42 microphthalmia 10.0
43 squamous cell carcinoma 10.0
44 allergic rhinitis 10.0
45 conjunctivitis 10.0
46 melanoma, cutaneous malignant 1 10.0
47 melanoma 10.0
48 astrocytoma 10.0
49 arthritis 10.0
50 allergic asthma 10.0

Graphical network of the top 20 diseases related to Melanoma-Astrocytoma Syndrome:



Diseases related to Melanoma-Astrocytoma Syndrome

Symptoms & Phenotypes for Melanoma-Astrocytoma Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skin:
cutaneous malignant melanoma

Neuro:
cerebral astrocytoma


Clinical features from OMIM:

155755

Human phenotypes related to Melanoma-Astrocytoma Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 astrocytoma 32 HP:0009592
2 cutaneous melanoma 32 HP:0012056

GenomeRNAi Phenotypes related to Melanoma-Astrocytoma Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Apoptosis resistance GR00093-A-0 8.62 CDKN2A PTPRD

Drugs & Therapeutics for Melanoma-Astrocytoma Syndrome

Search Clinical Trials , NIH Clinical Center for Melanoma-Astrocytoma Syndrome

Genetic Tests for Melanoma-Astrocytoma Syndrome

Genetic tests related to Melanoma-Astrocytoma Syndrome:

# Genetic test Affiliating Genes
1 Melanoma Astrocytoma Syndrome 29 CDKN2A

Anatomical Context for Melanoma-Astrocytoma Syndrome

Publications for Melanoma-Astrocytoma Syndrome

Articles related to Melanoma-Astrocytoma Syndrome:

# Title Authors Year
1
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history. ( 28699883 )
2017
2
Lack of inherited mutations of PTPRD in familial melanoma and melanoma-astrocytoma syndrome. ( 19500277 )
2009

Variations for Melanoma-Astrocytoma Syndrome

ClinVar genetic disease variations for Melanoma-Astrocytoma Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKN2A CDKN2A, EXON 1-BETA DEL deletion Pathogenic

Expression for Melanoma-Astrocytoma Syndrome

Search GEO for disease gene expression data for Melanoma-Astrocytoma Syndrome.

Pathways for Melanoma-Astrocytoma Syndrome

GO Terms for Melanoma-Astrocytoma Syndrome

Sources for Melanoma-Astrocytoma Syndrome

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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