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ML4
MCID: MCL013
MIFTS: 32
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Mucolipidosis Iv (ML4) malady
Neuronal, Eye, Metabolic, Fetal categories
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Sources: 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards See all sources Fully expand this MalaCard Export this MalaCard |
Genetics Home Reference:21 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.
MalaCards: Mucolipidosis Iv, also known as ganglioside sialidase deficiency, is related to mucolipidosis and mucolipidosis iii alpha/beta, and has symptoms including autosomal recessive inheritance, eeg anomalies and hypereflexia. An important gene associated with Mucolipidosis Iv is MCOLN1 (mucolipin 1), and among its related pathways is Lysosome. The compound lipid have been mentioned in the context of this disorder. Related mouse phenotypes are vision/eye and renal/urinary system. Description from OMIM:47 252650 GeneReviews summary for ml4 |
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Sources: 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet See all sources |
Classifications:Malacards categories (disease lists): (See all malacards categories) Global: Fetal Anatomical: Neuronal, Eye, Metabolic ICD10: 26 Characteristics (Orphanet epidemiological data):49mucolipidosis type 4: Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy Aliases & Descriptions:
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Sources: 17GeneCards, 18GeneDecks See all sources |
Diseases in the mucolipidosis ii family:
Diseases related to Mucolipidosis Iv via text searches within MalaCards or GeneCards/GeneDecks gene sharing:
Graphical network of diseases related to Mucolipidosis Iv: |
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Sources: 47OMIM, 49Orphanet See all sources |
Clinical features from OMIM:252650Clinical synopsis from OMIM:252650Symptoms:49 (show all 26)
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Sources: 5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT See all sources |
Approved drugs:Search CenterWatch for Mucolipidosis Iv Drug clinical trials:Search ClinicalTrials for Mucolipidosis Iv Search NIH Clinical Center for Mucolipidosis Iv Search CenterWatch for Mucolipidosis Iv |
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Sources: 20GeneTests, 22GTR See all sources |
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Sources: 37MGI, 28inGenious Targeting Laboratory See all sources |
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Sources: 17GeneCards, 46Novus Biologicals, 32LifeSpan BioSciences, Inc., 28inGenious Targeting Laboratory, 47OMIM, 49Orphanet, 63UniProtKB/Swiss-Prot, 20GeneTests See all sources |
Genes related to Mucolipidosis Iv:
Products for genes related to Mucolipidosis Iv disease:
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Sources: 63UniProtKB/Swiss-Prot See all sources |
Genetic disease variations for Mucolipidosis Iv:63
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Sources: 30KEGG See all sources |
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Sources: 45Novoseek See all sources |
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3CDC
10DISEASES
11DrugBank
13ExPASy
14FMA
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22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
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35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
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49Orphanet
50PharmGKB
51PubMed
52QIAGEN
54Reactome
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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