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Pediatric Disease Annotations & Medicines



   albinism
  

Disease ID 1669
Disease albinism
Definition
General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
Synonym
albinism (disorder)
albinism [disease/finding]
albinism, nos
albinismus
albinismus, nos
albino
UMLS
C0001916
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:14)
C0028738  |  nystagmus  |  8
C0155550  |  neural deafness  |  2
C0018784  |  sensorineural deafness  |  2
C0021053  |  immune dysfunction  |  1
C0032285  |  pneumonia  |  1
C0008445  |  chondrodysplasia punctata  |  1
C0003076  |  aniridia  |  1
C0079504  |  hermansky-pudlak syndrome  |  1
C1858325  |  alpha-methylacyl-coa racemase deficiency  |  1
C0020619  |  hypogonadism  |  1
C0022602  |  actinic keratoses  |  1
C0007137  |  squamous cell carcinoma  |  1
C0007965  |  chediak-higashi syndrome  |  1
C0022735  |  hypogonadotropic hypogonadism  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1669
Disease albinism
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:18)
HP:0000639  |  Nystagmus  |  8
HP:0002721  |  Immunodeficiency  |  5
HP:0000505  |  Poor vision  |  4
HP:0000365  |  Hearing impairment  |  3
HP:0000407  |  sensorineural hearing loss  |  2
HP:0001892  |  Bleeding diathesis  |  2
HP:0030731  |  Carcinoma  |  1
HP:0000135  |  Hypogonadism  |  1
HP:0007750  |  Hypoplasia of the fovea  |  1
HP:0100825  |  Inflammation of the lips  |  1
HP:0005374  |  Cellular immunodeficiency  |  1
HP:0002860  |  Squamous cell carcinoma  |  1
HP:0000526  |  Absent iris  |  1
HP:0001945  |  Fever  |  1
HP:0004322  |  Stature below 3rd percentile  |  1
HP:0007537  |  Severe sun sensitivity  |  1
HP:0000992  |  Skin photosensitivity  |  1
HP:0002090  |  Pneumonia  |  1
Disease ID 1669
Disease albinism
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:4)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs10489413093450977306TYRP1umls:C0001916BeFreeIn one family, two siblings with a phenotypically unclassified form of albinism were found to be compound heterozygotes for mutations (S166X/368delA) at the TYRP1 locus and were heterozygous for a common 2.7-kb deletion in the P gene.0.0019000931997TYRP1912695626CG
rs1126809235046637299TYRumls:C0001916BeFreeFinally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation.0.0114005592013TYR1189284793GA
rs1126809108239417299TYRumls:C0001916BeFreeToward this end, we analyzed the common albino mouse mutation Tyr(C85S), the frequent human albino substitution TYR(T373K), and the temperature-sensitive tyrosinase TYR(R402Q)/Tyr(H402A) found in humans and mice, respectively.0.0114005592000TYR1189284793GA
rs61754388108239417299TYRumls:C0001916BeFreeToward this end, we analyzed the common albino mouse mutation Tyr(C85S), the frequent human albino substitution TYR(T373K), and the temperature-sensitive tyrosinase TYR(R402Q)/Tyr(H402A) found in humans and mice, respectively.0.0114005592000TYR1189227904CA
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.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)