MASTS
MCID: MLN070
MIFTS: 33

Melanoma-Astrocytoma Syndrome (MASTS)

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

Aliases & Classifications for Melanoma-Astrocytoma Syndrome

MalaCards integrated aliases for Melanoma-Astrocytoma Syndrome:

Name: Melanoma-Astrocytoma Syndrome 57 12 58 72
Melanoma and Neural System Tumor Syndrome 57 12 20 58 29 13 6 15
Melanoma Astrocytoma Syndrome 20 44 70
Syndrome, Melanoma Astrocytoma 39
Masts 72

Characteristics:

Orphanet epidemiological data:

58
melanoma and neural system tumor syndrome
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
melanoma-astrocytoma syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111511
OMIM® 57 155755
MeSH 44 C536149
SNOMED-CT 67 717968005
UMLS via Orphanet 71 C1835042
Orphanet 58 ORPHA252206
MedGen 41 C1835042
UMLS 70 C1835042

Summaries for Melanoma-Astrocytoma Syndrome

Disease Ontology : 12 A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has material basis in heterozygous mutation in CDKN2A on chromosome 9p21.3.

MalaCards based summary : Melanoma-Astrocytoma Syndrome, also known as melanoma and neural system tumor syndrome, is related to melanoma, cutaneous malignant 1 and glioma susceptibility 1. An important gene associated with Melanoma-Astrocytoma Syndrome is CDKN2A (Cyclin Dependent Kinase Inhibitor 2A), and among its related pathways/superpathways are Cell cycle and Oncogene Induced Senescence. Affiliated tissues include breast, and related phenotypes are astrocytoma and cutaneous melanoma

UniProtKB/Swiss-Prot : 72 Melanoma-astrocytoma syndrome: Characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma.

More information from OMIM: 155755

Related Diseases for Melanoma-Astrocytoma Syndrome

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



Diseases related to Melanoma-Astrocytoma Syndrome

Symptoms & Phenotypes for Melanoma-Astrocytoma Syndrome

Human phenotypes related to Melanoma-Astrocytoma Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 astrocytoma 31 HP:0009592
2 cutaneous melanoma 31 HP:0012056

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin:
cutaneous malignant melanoma

Neuro:
cerebral astrocytoma

Clinical features from OMIM®:

155755 (Updated 05-Apr-2021)

Drugs & Therapeutics for Melanoma-Astrocytoma Syndrome

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

Cochrane evidence based reviews: melanoma astrocytoma syndrome

Genetic Tests for Melanoma-Astrocytoma Syndrome

Genetic tests related to Melanoma-Astrocytoma Syndrome:

# Genetic test Affiliating Genes
1 Melanoma and Neural System Tumor Syndrome 29 CDKN2A

Anatomical Context for Melanoma-Astrocytoma Syndrome

MalaCards organs/tissues related to Melanoma-Astrocytoma Syndrome:

40
Breast

Publications for Melanoma-Astrocytoma Syndrome

Articles related to Melanoma-Astrocytoma Syndrome:

(show all 23)
# Title Authors PMID Year
1
A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. 61 6 57
11136714 2001
2
Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors. 57 61
9622062 1998
3
Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. 6
28830827 2017
4
A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges. 57
28754699 2017
5
An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies. 57
26794401 2016
6
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 6
26681309 2016
7
Classifying variants of CDKN2A using computational and laboratory studies. 6
21462282 2011
8
CDKN2A germline mutations in individuals with cutaneous malignant melanoma. 6
17218939 2007
9
Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. 57
17440112 2007
10
Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma. 57
15937071 2006
11
Prevalence of 9p21 deletions in UK melanoma families. 57
16032697 2005
12
Investigation of germline PTEN, p53, p16(INK4A)/p14(ARF), and CDK4 alterations in familial glioma. 57
10797439 2000
13
Functional reassessment of P16 variants using a transfection-based assay. 6
10389768 1999
14
Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness. 57
9259954 1997
15
Familial cutaneous malignant melanoma and tumors of the nervous system. A hereditary cancer syndrome. 57
8635060 1995
16
Germline p16INK4A mutation and protein dysfunction in a family with inherited melanoma. 57
7624155 1995
17
Mutations associated with familial melanoma impair p16INK4 function. 6
7647780 1995
18
Germline p16 mutations in familial melanoma. 6
7987387 1994
19
A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma. 57
8414022 1993
20
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history. 61
28699883 2017
21
A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma. 61
24884915 2014
22
Lack of inherited mutations of PTPRD in familial melanoma and melanoma-astrocytoma syndrome. 61
19500277 2009
23
The genetics of hereditary melanoma and nevi. 1998 update. 61
10630172 1999

Variations for Melanoma-Astrocytoma Syndrome

ClinVar genetic disease variations for Melanoma-Astrocytoma Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDKN2A NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) SNV Pathogenic 9415 rs104894097 GRCh37: 9:21974756-21974756
GRCh38: 9:21974757-21974757
2 CDKN2A NM_000077.4(CDKN2A):c.-34G>T SNV Pathogenic 182414 rs1800586 GRCh37: 9:21974860-21974860
GRCh38: 9:21974861-21974861
3 CDKN2A CDKN2A, EXON 1-BETA DEL Deletion Pathogenic 9419 GRCh37:
GRCh38:
4 CDKN2A NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) SNV Likely pathogenic 127523 rs199907548 GRCh37: 9:21974681-21974681
GRCh38: 9:21974682-21974682
5 CDKN2A NM_000077.4(CDKN2A):c.365G>T (p.Gly122Val) SNV Uncertain significance 182419 rs373291490 GRCh37: 9:21970993-21970993
GRCh38: 9:21970994-21970994
6 CDKN2A NM_000077.4(CDKN2A):c.122C>A (p.Pro41Gln) SNV Uncertain significance 141111 rs373407950 GRCh37: 9:21974705-21974705
GRCh38: 9:21974706-21974706

Expression for Melanoma-Astrocytoma Syndrome

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

Pathways for Melanoma-Astrocytoma Syndrome

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

# Super pathways Score Top Affiliating Genes
1 11.49 CDKN2B CDKN2A ARF1
2 10.13 CDKN2B CDKN2A

GO Terms for Melanoma-Astrocytoma Syndrome

Biological processes related to Melanoma-Astrocytoma Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.26 CDKN2B CDKN2A
2 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.16 CDKN2B CDKN2A
3 cellular senescence GO:0090398 8.96 CDKN2B CDKN2A
4 negative regulation of phosphorylation GO:0042326 8.62 CDKN2B CDKN2A

Molecular functions related to Melanoma-Astrocytoma Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.62 CDKN2B CDKN2A

Sources for Melanoma-Astrocytoma Syndrome

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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