Mucolipidosis Iv disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Mucolipidosis Iv

Sources:
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

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

Classifications:

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

ICD10: ²⁶

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Other gangliosidosis

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

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

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:

id	Related Disease	Score	Top Affiliating Genes
1	mucolipidosis	31.3	MCOLN1
2	mucolipidosis iii alpha/beta	10.7
3	mucolipidosis iii gamma	10.6
4	mucolipidosis ii	10.5
5	myofascial pain syndrome	10.4
6	carpal tunnel syndrome	10.4
7	retinitis	10.1
8	lysosomal storage disease	10.0	MCOLN1, HEXA

Graphical network of diseases related to Mucolipidosis Iv:

Clinical Features for Mucolipidosis Iv

Sources:
⁴⁶OMIM, ⁴⁸Orphanet
See all sources

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

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

Sources:
³²MalaCards
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MalaCards organs/tissues related to Mucolipidosis Iv:

³²

Eye, Skin, Brain

Animal Models for Mucolipidosis Iv or affiliated genes

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Mucolipidosis Iv:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye phenotype	MP:0005391	9.1	MCOLN1, HEXA
2	renal/urinary system phenotype	MP:0005367	8.8	MCOLN1, HEXA

Publications for Mucolipidosis Iv

Sources:
⁵⁰PubMed
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Articles related to Mucolipidosis Iv:

(show top 50) (show all 104)

id	Title	Authors	Year
1	Loss of TRPML1 promotes production of reactive oxygen species: is oxidative damage a factor in mucolipidosis typeA IV? (24192042)	Coblentz J.... Kiselyov K.	2014
2	Quantitative neuroimaging in mucolipidosis type IV. (24332805)	Schiffmann R.... Nestrasil I.	2013
3	A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. (23685283)	Albakheet A.... Al-Sayed M.	2013
4	Mucolipidosis typeA IV and the mucolipins. (21118102)	Bach G.... Kogot-Levin A.	2010
5	Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder. (20159435)	Geer J.S.... Holden K.R.	2010
6	Chaperone-mediated autophagy is defective in mucolipidosis type IV. (19117012)	Venugopal B.... Slaugenhaupt S.A.	2009
7	Gene expression profiling of mucolipidosis type IV fibroblasts reveals deregulation of genes with relevant functions in lysosome physiology. (18258208)	Bozzato A.... Borsani G.	2008
8	The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. (18794901)	Dong X.P.... Xu H.	2008
9	Mucolipidosis type IV: the importance of functional lysosomes for efficient autophagy. (18635948)	Vergarajauregui S.... Puertollano R.	2008
10	Membrane traffic and turnover in TRP-ML1-deficient cells: a revised model for mucolipidosis type IV pathogenesis. (18504305)	Miedel M.T.... Kiselyov K.	2008
11	Autophagic dysfunction in mucolipidosis type IV patients. (18550655)	Vergarajauregui S.... Puertollano R.	2008
12	A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent. (19073851)	Bindu P.S.... Pal P.K.	2008
13	Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. (17239335)	Dobrovolny R.... Elleder M.	2007
14	Lysosomal exocytosis is impaired in mucolipidosis type IV. (16914343)	LaPlante J.M.... Vassilev P.M.	2006
15	Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel. (15236718)	Gordon R.M.... Marchese T.	2004
16	Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. (14749347)	Raychowdhury M.K.... Cantiello H.F.	2004
17	Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. (15336987)	LaPlante J.M.... Vassilev P.M.	2004
18	The neurogenetics of mucolipidosis type IV. (12182165)	Altarescu G.... Schiffmann R.	2002
19	Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. (11874766)	Smith J.A.... Schiffmann R.	2002
20	The molecular basis of mucolipidosis type IV. (12125810)	Slaugenhaupt S.A.	2002
21	Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. (11845410)	Edelmann L.... Kornreich R.	2002
22	Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. (12368990)	Bargal R.... Bach G.	2002
23	Mucolipidosis type IV. (11461186)	Bach G.	2001
24	Mucolipidosis IV in an African American patient with new findings on electron microscopy. (11413414)	Noffke A.S.... Roth S.I.	2001
25	Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis. (11757585)	Jansen S.M.... Poorthuis B.J.	2001
26	Identification of the gene causing mucolipidosis type IV. (10973263)	Bargal R.... Bach G.	2000
27	Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. (11030752)	Sun M.... Slaugenhaupt S.A.	2000
28	Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. (10441585)	Slaugenhaupt S.A.... Gusella J.F.	1999
29	Mucolipidosis IV consists of one complementation group. (10411915)	Goldin E.... Schiffmann R.	1999
30	Electroencephalographic findings in patients with mucolipidosis type IV. (9680151)	Siegel H.... Sato S.	1998
31	Mucolipidosis IV: morphology and histochemistry of an autopsy case. (7876885)	Folkerth R.D.... Kolodny E.H.	1995
32	Mucolipidosis IV (20301393)	Pagon R.A.... Stephens K.	1993
33	Mucolipidosis type IV: accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis. (1287639)	Zeigler M.... Bach G.	1992
34	Mucolipidosis type IV: clinical manifestations and natural history. (1789285)	Chitayat D.... Carpenter S.	1991
35	Muscle involvement in mucolipidosis IV. (2288386)	Weitz R.... Kohn G.	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)	Lieser M.... Cantz M.	1989
37	Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. (3139925)	Bargal R.... Bach G.	1988
38	Early prenatal diagnosis of mucolipidosis IV. (3425607)	Ornoy A.... Bach G.	1987
39	Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. (3970116)	Dangel M.E.... Rogers G.L.	1985
40	Ganglioside sialidase distribution in mucolipidosis type IV cultured fibroblasts. (4037805)	Zeigler M.... Bach G.	1985
41	Morphologic and chemical biopsy findings in mucolipidosis IV. (6301721)	Goebel H.H.... Lenard H.G.	1982
42	Two brothers with presumed mucolipidosis IV. (7171766)	Zwaan J.... Kenyon K.R.	1982
43	Review article: mucolipidosis IV. (7114093)	Crandall B.F.... Bluestone D.A.	1982
44	Catalytically defective ganglioside neuraminidase in mucolipidosis IV. (6813002)	Ben-Yoseph Y.... Nadler H.L.	1982
45	Biochemical investigations of cultured amniotic fluid cells in mucolipidosis type IV. (6447555)	Bach G.... Kohn G.	1980
46	Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin. (220944)	Kenyon K.R.... Hiatt R.L.	1979
47	Mucolipidosis type IV: ganglioside sialidase deficiency. (518603)	Bach G.... Kohn G.	1979
48	Mucolipidosis IV. (231746)	GoutiA"res F.... Aicardi J.	1979
49	Prenatal diagnosis of mucolipidosis IV by electron microscopy. (830895)	Kohn G.... COHEN M.M.	1977
50	Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV. (1191304)	Bach G.... Kohn G.	1975

Genes related to Mucolipidosis Iv

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁶OMIM, ⁴⁸Orphanet, ⁶²UniProtKB/Swiss-Prot, ²⁰GeneTests
See all sources

Genes related to Mucolipidosis Iv:

id	Symbol	Products	Description	Score	Implication
1	MCOLN1		mucolipin 1	25.17	Molecular basis known ⁴⁶ Causative germline mutation ⁴⁸ Causative variation ⁶² Genetic Tests ²⁰ GeneCards inferred : Publications, Disorders (show sections)
2	HEXA		hexosaminidase A (alpha polypeptide)	15.17	GeneCards inferred : Publications, Disorders (show sections)

Products for genes related to Mucolipidosis Iv disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	2	2	2
2	LSBio	-	-	2

Genetic Variations for Mucolipidosis Iv

Sources:
⁶²UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Mucolipidosis Iv:

⁶²

id	Symbol	AA change	Variation ID
1	MCOLN1	p.Leu106Pro	VAR_019369
2	MCOLN1	p.Thr232Pro	VAR_019370
3	MCOLN1	p.Asp362Tyr	VAR_019371
4	MCOLN1	p.Val446Leu	VAR_019373
5	MCOLN1	p.Leu447Pro	VAR_019374
6	MCOLN1	p.Phe465Leu	VAR_019375
7	MCOLN1	p.Arg403Cys	VAR_038380