Mucolipidosis Iv malady
Categories: Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases, Bone diseases
Aliases & Descriptions for Mucolipidosis Iv:
Orphanet epidemiological data:52
mucolipidosis type iv:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden),1-9/100000; Age of onset: Infancy; Age of death: adult
Global: Genetic diseases, Metabolic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
OMIM:50 Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor... (252650) more...
MalaCards based summary: Mucolipidosis Iv, also known as mucolipidosis type iv, is related to gangliosidosis and retinitis, and has symptoms including strabismus, retinopathy and photophobia. An important gene associated with Mucolipidosis Iv is MCOLN1 (Mucolipin 1), and among its related pathways is Lysosome. Affiliated tissues include breast, lung and bone, and related mouse phenotype renal/urinary system.
UniProtKB/Swiss-Prot:68 Mucolipidosis 4: An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels.
Genetics Home Reference:24 Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV.
GeneReviews summary for NBK1214
Diseases in the Mucolipidosis Iii Gamma family:
Diseases related to Mucolipidosis Iv via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Mucolipidosis Iv:
Symptoms by clinical synopsis from OMIM:252650
Clinical features from OMIM:252650
Symptoms:52 (show all 27)
HPO human phenotypes related to Mucolipidosis Iv:(show all 44)
UMLS symptoms related to Mucolipidosis Iv:photophobia
Drugs for Mucolipidosis Iv (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 172)
Interventional clinical trials:(show top 50) (show all 123)
Search NIH Clinical Center for Mucolipidosis Iv
MalaCards organs/tissues related to Mucolipidosis Iv:34
Breast, Lung, Bone, Brain, Testes, Monocytes, Uterus
Articles related to Mucolipidosis Iv:(show top 50) (show all 53)
UniProtKB/Swiss-Prot genetic disease variations for Mucolipidosis Iv:68
Clinvar genetic disease variations for Mucolipidosis Iv:5 (show all 31)
Search GEO for disease gene expression data for Mucolipidosis Iv.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet