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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   atypical mole syndrome
  

Disease ID 1033
Disease atypical mole syndrome
Definition
Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)
Synonym
atypical mole syndrome (disorder)
b k mole syndrome
b-k mole (nevus) syndrome
b-k mole (nevus) syndrome (disorder)
b-k mole (nevus) syndrome (disorder) [ambiguous]
b-k mole syndrome
dysplastic naevus syndrome
dysplastic nevus syndrome
dysplastic nevus syndrome [disease/finding]
familial atypical mole malignant melanoma syndrome
familial dysplastic nevi
fammm - familial atypical mole malignant melanoma syndrome
nevus syndrome, dysplastic
syndrome, b-k mole
syndrome, dysplastic nevus
Orphanet
OMIM
DOID
UMLS
C0013403
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
C0025202  |  melanoma  |  4
C0025202  |  malignant melanoma  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
338376  |  IFNE  |  CIPHER
8398  |  PLA2G6  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:23)
100  |  ADA  |  1.393  |  DISEASES
672  |  BRCA1  |  1.912  |  DISEASES
675  |  BRCA2  |  3.47  |  DISEASES
1029  |  CDKN2A  |  5.077  |  DISEASES
11200  |  CHEK2  |  1.059  |  DISEASES
1719  |  DHFR  |  1.63  |  DISEASES
1785  |  DNM2  |  1.252  |  DISEASES
2517  |  FUCA1  |  2.883  |  DISEASES
3045  |  HBD  |  1.644  |  DISEASES
3052  |  HCCS  |  1.309  |  DISEASES
3980  |  LIG3  |  1.717  |  DISEASES
10046  |  MAMLD1  |  2.698  |  DISEASES
4157  |  MC1R  |  1.553  |  DISEASES
4221  |  MEN1  |  1.655  |  DISEASES
4763  |  NF1  |  2.295  |  DISEASES
23022  |  PALLD  |  3.541  |  DISEASES
114299  |  PALM2  |  3.966  |  DISEASES
5236  |  PGM1  |  2.089  |  DISEASES
6490  |  PMEL  |  1.353  |  DISEASES
5378  |  PMS1  |  2.516  |  DISEASES
6794  |  STK11  |  1.149  |  DISEASES
7507  |  XPA  |  2.305  |  DISEASES
7516  |  XRCC2  |  1.387  |  DISEASES
Locus(Waiting for update.)
Disease ID 1033
Disease atypical mole syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
HP:0002861  |  Melanoma  |  4
Disease ID 1033
Disease atypical mole syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0025202  |  melanoma  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs2284063195783658398PLA2G6umls:C0013403GAD[Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.]0.0023670322009PLA2G62238148291AG
rs463629419578365338376IFNEumls:C0013403GAD[Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.]0.0023670322009NA921747804AG,T
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1033
Disease atypical mole syndrome
Case(Waiting for update.)