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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Sources:
60UMLS, 19GeneReviews, 46OMIM, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 22GTR, 21Genetics Home Reference, 44Novoseek, 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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Sources:
50PubMed
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Articles related to Mucolipidosis Iv:

(show top 50)    (show all 104)
idTitleAuthorsYear
1
Loss of TRPML1 promotes production of reactive oxygen species: is oxidative damage a factor in mucolipidosis typeA IV? (24192042)
2014
2
Quantitative neuroimaging in mucolipidosis type IV. (24332805)
2013
3
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. (23685283)
2013
4
Mucolipidosis typeA IV and the mucolipins. (21118102)
2010
5
Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder. (20159435)
2010
6
Chaperone-mediated autophagy is defective in mucolipidosis type IV. (19117012)
2009
7
Gene expression profiling of mucolipidosis type IV fibroblasts reveals deregulation of genes with relevant functions in lysosome physiology. (18258208)
2008
8
The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. (18794901)
2008
9
Mucolipidosis type IV: the importance of functional lysosomes for efficient autophagy. (18635948)
2008
10
Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis. (18504305)
2008
11
Autophagic dysfunction in mucolipidosis type IV patients. (18550655)
2008
12
A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent. (19073851)
2008
13
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. (17239335)
2007
14
Lysosomal exocytosis is impaired in mucolipidosis type IV. (16914343)
2006
15
Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel. (15236718)
2004
16
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. (14749347)
2004
17
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. (15336987)
2004
18
The neurogenetics of mucolipidosis type IV. (12182165)
2002
19
Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. (11874766)
2002
20
The molecular basis of mucolipidosis type IV. (12125810)
2002
21
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. (11845410)
2002
22
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. (12368990)
2002
23
Mucolipidosis type IV. (11461186)
2001
24
Mucolipidosis IV in an African American patient with new findings on electron microscopy. (11413414)
2001
25
Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis. (11757585)
2001
26
Identification of the gene causing mucolipidosis type IV. (10973263)
2000
27
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. (11030752)
2000
28
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. (10441585)
1999
29
Mucolipidosis IV consists of one complementation group. (10411915)
1999
30
Electroencephalographic findings in patients with mucolipidosis type IV. (9680151)
1998
31
Mucolipidosis IV: morphology and histochemistry of an autopsy case. (7876885)
1995
32
Mucolipidosis IV (20301393)
1993
33
Mucolipidosis type IV: accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis. (1287639)
1992
34
Mucolipidosis type IV: clinical manifestations and natural history. (1789285)
1991
35
Muscle involvement in mucolipidosis IV. (2288386)
1990
36
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
37
Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. (3139925)
1988
38
Early prenatal diagnosis of mucolipidosis IV. (3425607)
1987
39
Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. (3970116)
1985
40
Ganglioside sialidase distribution in mucolipidosis type IV cultured fibroblasts. (4037805)
1985
41
Morphologic and chemical biopsy findings in mucolipidosis IV. (6301721)
1982
42
Two brothers with presumed mucolipidosis IV. (7171766)
1982
43
Review article: mucolipidosis IV. (7114093)
1982
44
Catalytically defective ganglioside neuraminidase in mucolipidosis IV. (6813002)
1982
45
Biochemical investigations of cultured amniotic fluid cells in mucolipidosis type IV. (6447555)
1980
46
Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin. (220944)
1979
47
Mucolipidosis type IV: ganglioside sialidase deficiency. (518603)
1979
48
Mucolipidosis IV. (231746)
1979
49
Prenatal diagnosis of mucolipidosis IV by electron microscopy. (830895)
1977
50
Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV. (1191304)
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