ML4
MCID: MCL013
MIFTS: 32

Mucolipidosis Iv (ML4) malady

Neuronal, Eye, Metabolic, Fetal categories

Summaries for Mucolipidosis Iv

Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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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

Aliases & Classifications for Mucolipidosis Iv

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


Characteristics (Orphanet epidemiological data):

49
mucolipidosis type 4:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mucolipidosis iv 19 47
ganglioside sialidase deficiency 43 22 21
mucolipidosis type 4 43 20 49
mucolipidosis type iv 21 61
ganglioside neuraminidase deficiency 43
variant pseudo hurler polydystrophy 19
pseudo-hurler polydystrophy 61
type iv mucolipidosis 45
mucolipidosis iii c 19
berman syndrome 43
sialolipidosis 21
mliv 21
ml 4 43
ml4 21


External Ids:

OMIM47 252650
ICD10 via Orphanet26 E75.1
SNOMED-CT via Orphanet58 111384001
UMLS via Orphanet62 C0238286

Related Diseases for Mucolipidosis Iv

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the mucolipidosis ii family:

mucolipidosis mucolipidosis iii alpha/beta
mucolipidosis iii gamma mucolipidosis iv

Diseases related to Mucolipidosis Iv via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mucolipidosis31.4MCOLN1
2mucolipidosis iii alpha/beta10.8
3mucolipidosis ii10.4
4myofascial pain syndrome10.4
5carpal tunnel syndrome10.4
6mucolipidosis iii gamma10.2
7lysosomal storage disease10.0MCOLN1, HEXA

Graphical network of diseases related to Mucolipidosis Iv:



Diseases related to mucolipidosis iv

Clinical Features for Mucolipidosis Iv

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

252650

Clinical synopsis from OMIM:

252650

Symptoms:

49 (show all 26)
  • autosomal recessive inheritance
  • eeg anomalies
  • hypereflexia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • nystagmus
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hypotonia
  • coarse face
  • corneal clouding/opacity/vascularisation
  • psychic/behavioural troubles
  • retinitis pigmentosa/retinal pigmentary changes
  • microcephaly
  • absent/hypotonic/flaccid abdominal wall muscles
  • photophobia
  • retinopathy
  • lipidosis/sulfatidosis
  • strabismus/squint
  • narrow forehead
  • abnormal erg/electroretinogram/electroretinography
  • long/large/bulbous nose
  • protruding lips
  • complete/partial microdontia
  • genu recurvatum
  • palmoplantar hyperkeratosis/keratoderma

Drugs & Therapeutics for Mucolipidosis Iv

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

Genetic Tests for Mucolipidosis Iv

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Mucolipidosis Iv:

id Genetic test Affiliating Genes
1 Mucolipidosis Iv20 MCOLN1
2 Ganglioside Sialidase Deficiency22

Anatomical Context for Mucolipidosis Iv

Animal Models for Mucolipidosis Iv or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Mucolipidosis Iv:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1MCOLN1, HEXA
2MP:00053678.8MCOLN1, HEXA

Publications for Mucolipidosis Iv

Genetic Variations for Mucolipidosis Iv

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Mucolipidosis Iv:

63
id Symbol AA change Variation SNP ID
1MCOLN1p.Leu106ProVAR_019369
2MCOLN1p.Thr232ProVAR_019370
3MCOLN1p.Asp362TyrVAR_019371
4MCOLN1p.Val446LeuVAR_019373
5MCOLN1p.Leu447ProVAR_019374
6MCOLN1p.Phe465LeuVAR_019375
7MCOLN1p.Arg403CysVAR_038380

Expression for genes affiliated with Mucolipidosis Iv

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Mucolipidosis Iv

Search GEO for disease gene expression data for Mucolipidosis Iv.

Pathways for genes affiliated with Mucolipidosis Iv

Sources:
30KEGG
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Pathways related to Mucolipidosis Iv according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1MCOLN1, HEXA

Compounds for genes affiliated with Mucolipidosis Iv

Sources:
45Novoseek
See all sources

Compounds related to Mucolipidosis Iv according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lipid459.1MCOLN1, HEXA

GO Terms for genes affiliated with Mucolipidosis Iv

Products for genes affiliated with Mucolipidosis Iv

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucolipidosis Iv

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet