ML4
MCID: MCL013
MIFTS: 50

Mucolipidosis Iv (ML4) malady

Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases categories

Summaries for Mucolipidosis Iv

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21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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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 microcephaly, narrow forehead and coarse face. 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. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are vision/eye and renal/urinary system.

Description from OMIM:46 252650

GeneReviews summary for ml4

Aliases & Classifications for Mucolipidosis Iv

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

48
mucolipidosis type 4:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mucolipidosis iv 19 46
ganglioside sialidase deficiency 42 22 21
mucolipidosis type 4 42 20 48
mucolipidosis type iv 21 60
ganglioside neuraminidase deficiency 42
pseudo-hurler polydystrophy 60
type iv mucolipidosis 44
berman syndrome 42
sialolipidosis 21
mliv 21
ml 4 42
ml4 21


External Ids:

OMIM46 252650
ICD10 via Orphanet26 E75.1
SNOMED-CT via Orphanet57 111384001
UMLS via Orphanet61 C0238286

Related Diseases for Mucolipidosis Iv

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Mucolipidosis Iii Alpha/beta family:

Mucolipidosis Mucolipidosis Ii
Mucolipidosis Iii Gamma mucolipidosis iv

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

idRelated DiseaseScoreTop Affiliating Genes
1mucolipidosis31.3MCOLN1
2mucolipidosis iii alpha/beta10.7
3mucolipidosis iii gamma10.6
4mucolipidosis ii10.5
5myofascial pain syndrome10.4
6carpal tunnel syndrome10.4
7retinitis10.1
8lysosomal storage disease10.0MCOLN1, HEXA

Graphical network of diseases related to Mucolipidosis Iv:



Diseases related to mucolipidosis iv

Clinical Features for Mucolipidosis Iv

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46OMIM, 48Orphanet
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Clinical features from OMIM:

252650

Clinical synopsis from OMIM:

252650

Symptoms:

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

Drugs & Therapeutics for Mucolipidosis Iv

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Mucolipidosis Iv:

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

Anatomical Context for Mucolipidosis Iv

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32MalaCards
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MalaCards organs/tissues related to Mucolipidosis Iv:

32
Eye, Skin, Brain

Animal Models for Mucolipidosis Iv or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mucolipidosis Iv:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1MCOLN1, HEXA
2MP:00053678.8MCOLN1, HEXA

Publications for Mucolipidosis Iv

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50PubMed
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Articles related to Mucolipidosis Iv:

(show top 50)    (show all 104)
idTitleAuthorsYear
1
Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV. (23585356)
2013
2
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. (23685283)
2013
3
LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV. (21224396)
2011
4
Mucolipidosis typeA IV and the mucolipins. (21118102)
2010
5
Mucolipidosis type IV: the effect of increased lysosomal pH on the abnormal lysosomal storage. (19247216)
2009
6
Chaperone-mediated autophagy is defective in mucolipidosis type IV. (19117012)
2009
7
Mucolipidosis type IV: the importance of functional lysosomes for efficient autophagy. (18635948)
2008
8
Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis. (18504305)
2008
9
Autophagic dysfunction in mucolipidosis type IV patients. (18550655)
2008
10
A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent. (19073851)
2008
11
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. (17239335)
2007
12
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. (16645217)
2006
13
Lysosomal exocytosis is impaired in mucolipidosis type IV. (16914343)
2006
14
Mitochondrial aberrations in mucolipidosis Type IV. (17056595)
2006
15
Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging. (12940649)
2003
16
The neurogenetics of mucolipidosis type IV. (12182165)
2002
17
Electronegative electroretinogram in mucolipidosis IV. (11786056)
2002
18
Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. (11874766)
2002
19
The molecular basis of mucolipidosis type IV. (12125810)
2002
20
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. (11845410)
2002
21
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. (12368990)
2002
22
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. (11551108)
2001
23
Mucolipidosis type IV. (11461186)
2001
24
Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis. (11757585)
2001
25
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. (11030752)
2000
26
Elevated lysosomal pH in Mucolipidosis type IV cells. (10090534)
1999
27
Lysosomal inclusions in gastric parietal cells in mucolipidosis type IV: a novel cause of achlorhydria and hypergastrinemia. (10584706)
1999
28
Mucolipidosis type IV: abnormal transport of lipids to lysosomes. (9323557)
1997
29
Mucolipidosis IV: morphology and histochemistry of an autopsy case. (7876885)
1995
30
Mucolipidosis IV (20301393)
1993
31
Mucolipidosis type IV: a mild form with late onset. (8135288)
1993
32
Mucolipidosis type IV: accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis. (1287639)
1992
33
Ganglioside GM3 sialidase activity in fibroblasts of normal individuals and of patients with sialidosis and mucolipidosis IV. Subcellular distribution and and some properties. (2775195)
1989
34
Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. (3139925)
1988
35
Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts. (3168971)
1988
36
Mucolipidosis type IV: clinical spectrum and natural history. (2438637)
1987
37
Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. (3970116)
1985
38
Ocular abnormalities in mucolipidosis IV. (3918453)
1985
39
A muscle disorder as presenting symptom in a child with mucolipidosis IV. (6877526)
1983
40
Review article: mucolipidosis IV. (7114093)
1982
41
Biochemical investigations of cultured amniotic fluid cells in mucolipidosis type IV. (6447555)
1980
42
Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin. (220944)
1979
43
Mucolipidosis type IV: ganglioside sialidase deficiency. (518603)
1979
44
Mucolipidosis IV. (231746)
1979
45
Mucolipidosis IV: ultrastructural diagnosis of a recently defined genetic disorder. (581454)
1978
46
Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. (145180)
1977
47
Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy. (187156)
1976
48
The cornea in mucolipidosis IV. (1018215)
1976
49
Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV. (1191304)
1975
50
Mucolipidosis IV: ocular, systemic, and ultrastructural findings. (166049)
1975

Genetic Variations for Mucolipidosis Iv

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mucolipidosis Iv:

62
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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29KEGG
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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

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44Novoseek
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Compounds related to Mucolipidosis Iv according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lipid449.1MCOLN1, HEXA

GO Terms for genes affiliated with Mucolipidosis Iv

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Products for genes affiliated with Mucolipidosis Iv

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucolipidosis Iv

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet