ML4
MCID: MCL013
MIFTS: 44

Mucolipidosis Iv (ML4) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Bone diseases categories

Summaries for Mucolipidosis Iv

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22Genetics Home Reference, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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 retinitis, and has symptoms including photophobia, retinopathy and lipidosis/sulfatidosis. 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 and skin, and related mouse phenotypes are vision/eye and renal/urinary system.

Description from OMIM:48 252650

GeneReviews summary for ml4

Aliases & Classifications for Mucolipidosis Iv

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
mucolipidosis type 4:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mucolipidosis iv 20 48
ganglioside sialidase deficiency 44 23 22
mucolipidosis type 4 44 21 50
mucolipidosis type iv 22 63
ganglioside neuraminidase deficiency 44
pseudo-hurler polydystrophy 63
type iv mucolipidosis 46
berman syndrome 44
sialolipidosis 22
mliv 22
ml 4 44
ml4 22


External Ids:

OMIM48 252650
ICD10 via Orphanet27 E75.1
SNOMED-CT via Orphanet60 111384001
UMLS via Orphanet64 C0238286

Related Diseases for Mucolipidosis Iv

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18GeneCards, 19GeneDecks
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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
2retinitis10.1
3lysosomal storage disease10.0HEXA, MCOLN1

Symptoms for Mucolipidosis Iv

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

252650

Clinical features from OMIM:

252650

Symptoms:

50 (show all 26)
  • 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
  • absent/hypotonic/flaccid abdominal wall muscles
  • microcephaly
  • 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
  • autosomal recessive inheritance

Drugs & Therapeutics for Mucolipidosis Iv

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Mucolipidosis Iv:

id Genetic test Affiliating Genes
1 Mucolipidosis Iv21 MCOLN1
2 Ganglioside Sialidase Deficiency23

Anatomical Context for Mucolipidosis Iv

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34MalaCards
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MalaCards organs/tissues related to Mucolipidosis Iv:

34
Eye, Skin

Animal Models for Mucolipidosis Iv or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mucolipidosis Iv:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1HEXA, MCOLN1
2MP:00053678.8HEXA, MCOLN1

Publications for Mucolipidosis Iv

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53PubMed
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Articles related to Mucolipidosis Iv:

(show all 45)
idTitleAuthorsYear
1
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. (23685283)
2013
2
Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. (20864526)
2010
3
What's your diagnosis? Mucolipidosis IV (Berman syndrome). (19496492)
2009
4
A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent. (19073851)
2008
5
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. (17239335)
2007
6
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. (16645217)
2006
7
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. (15523648)
2004
8
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. (15336987)
2004
9
Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging. (12940649)
2003
10
Electronegative electroretinogram in mucolipidosis IV. (11786056)
2002
11
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. (12368990)
2002
12
Mucolipidosis IV in an African American patient with new findings on electron microscopy. (11413414)
2001
13
G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts. (10227679)
1999
14
Mucolipidosis IV consists of one complementation group. (10411915)
1999
15
Mucolipidosis IV: morphology and histochemistry of an autopsy case. (7876885)
1995
16
Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid. (7837760)
1994
17
Mucolipidosis IV (20301393)
1993
18
Stimulation of GM3 ganglioside sialidase activity by an activator protein in patients with mucolipidosis IV and controls. (1806363)
1991
19
Corneal surface irregularities and episodic pain in a patient with mucolipidosis IV. (2302112)
1990
20
Muscle involvement in mucolipidosis IV. (2288386)
1990
21
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
22
Phosphatidylcholine storage in mucolipidosis IV. (2736780)
1989
23
Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. (3139925)
1988
24
Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts. (3168971)
1988
25
Early prenatal diagnosis of mucolipidosis IV. (3425607)
1987
26
Internalization of exogenous gangliosides in cultured skin fibroblasts for the diagnosis of mucolipidosis IV. (3087662)
1986
27
Retinal function in mucolipidosis IV. (4088609)
1985
28
Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. (3970116)
1985
29
Ocular abnormalities in mucolipidosis IV. (3918453)
1985
30
Mucolipidosis IV. (6847966)
1983
31
A muscle disorder as presenting symptom in a child with mucolipidosis IV. (6877526)
1983
32
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency. (6820444)
1982
33
Mucolipidosis IV: prenatal diagnosis by electron microscopy. (7156027)
1982
34
Morphologic and chemical biopsy findings in mucolipidosis IV. (6301721)
1982
35
Two brothers with presumed mucolipidosis IV. (7171766)
1982
36
Review article: mucolipidosis IV. (7114093)
1982
37
Catalytically defective ganglioside neuraminidase in mucolipidosis IV. (6813002)
1982
38
Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin. (220944)
1979
39
Mucolipidosis IV. (231746)
1979
40
Mucolipidosis IV: fetal and placental pathology. A report on two subsequent interruptions of pregnancy. (723903)
1978
41
Prenatal diagnosis of mucolipidosis IV by electron microscopy. (830895)
1977
42
Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. (145180)
1977
43
The cornea in mucolipidosis IV. (1018215)
1976
44
Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV. (1191304)
1975
45
Mucolipidosis IV: ocular, systemic, and ultrastructural findings. (166049)
1975

Variations for Mucolipidosis Iv

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mucolipidosis Iv:

65
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

Clinvar genetic disease variations for Mucolipidosis Iv:

1 (show all 44)
id Gene Name Type Significance SNP ID Assembly Location
1GNPTABNM_024312.4(GNPTAB): c.1774G> A (p.Ala592Thr)single nucleotide variantPathogenicGRCh37Chr 12, 102158921: 102158921
2GNPTABNM_024312.4(GNPTAB): c.2354T> G (p.Leu785Trp)single nucleotide variantPathogenicGRCh37Chr 12, 102158341: 102158341
3GNPTABNM_024312.4(GNPTAB): c.3739_3742delAAAG (p.Glu1248Leufs)deletionPathogenicGRCh37Chr 12, 102140971: 102140974
4GNPTABNM_024312.4(GNPTAB): c.771G> A (p.Leu257=)single nucleotide variantPathogenicrs281865025GRCh37Chr 12, 102173930: 102173930
5GNPTABNM_024312.4(GNPTAB): c.1220A> C (p.Asp407Ala)single nucleotide variantPathogenicrs137852895GRCh37Chr 12, 102163863: 102163863
6GNPTABNM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter)single nucleotide variantPathogenicrs137852897GRCh37Chr 12, 102147187: 102147187
7GNPTABNM_024312.4(GNPTAB): c.2715+1G> Asingle nucleotide variantPathogenicrs281865031GRCh37Chr 12, 102157979: 102157979
8GNPTABNM_024312.4(GNPTAB): c.2574_2575delGA (p.Asn859Glnfs)deletionPathogenicrs281865029GRCh37Chr 12, 102158120: 102158121
9GNPTABNM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs)deletionPathogenicrs34002892GRCh37Chr 12, 102147248: 102147249
10GNPTABNM_024312.4(GNPTAB): c.3335+6T> Gsingle nucleotide variantPathogenicrs34788341GRCh37Chr 12, 102151344: 102151344
11GNPTABNM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln)single nucleotide variantPathogenicrs34159654GRCh37Chr 12, 102224444: 102224444
12GNPTABNM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu)single nucleotide variantPathogenicrs137852900GRCh37Chr 12, 102163963: 102163963
13GNPTABNM_024312.4(GNPTAB): c.1196C> T (p.Ser399Phe)single nucleotide variantPathogenicrs281865026GRCh37Chr 12, 102163887: 102163887
14GNPTABNM_024312.4(GNPTAB): c.1985C> G (p.Ala662Gly)single nucleotide variantPathogenicrs142172397GRCh37Chr 12, 102158710: 102158710
15GNPTABNM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter)single nucleotide variantPathogenicrs35333334GRCh37Chr 12, 102142959: 102142959
16GNPTABNM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter)single nucleotide variantPathogenicrs281864969GRCh37Chr 12, 102164297: 102164297
17GNPTABNM_024312.4(GNPTAB): c.1001G> A (p.Arg334Gln)single nucleotide variantPathogenicrs281864970GRCh37Chr 12, 102164296: 102164296
18GNPTABNM_024312.4(GNPTAB): c.1208T> C (p.Ile403Thr)single nucleotide variantPathogenicrs281864973GRCh37Chr 12, 102163875: 102163875
19GNPTABNM_024312.4(GNPTAB): c.1285-2A> Gsingle nucleotide variantPathogenicrs281864974GRCh37Chr 12, 102161940: 102161940
20GNPTABNM_024312.4(GNPTAB): c.1325G> A (p.Cys442Tyr)single nucleotide variantPathogenicrs281864975GRCh37Chr 12, 102161898: 102161898
21GNPTABNM_024312.4(GNPTAB): c.1385dupA (p.Asp462Glufs)duplicationPathogenicrs281864978GRCh37Chr 12, 102161837: 102161838
22GNPTABNM_024312.4(GNPTAB): c.1514G> A (p.Cys505Tyr)single nucleotide variantPathogenicrs281864980GRCh37Chr 12, 102159967: 102159967
23GNPTABNM_024312.4(GNPTAB): c.168T> A (p.Tyr56Ter)single nucleotide variantPathogenicrs281864950GRCh37Chr 12, 102190490: 102190490
24GNPTABNM_024312.4(GNPTAB): c.232_234delGTT (p.Val78del)deletionPathogenicrs281864952GRCh37Chr 12, 102183805: 102183807
25GNPTABNM_024312.4(GNPTAB): c.242G> T (p.Trp81Leu)single nucleotide variantPathogenicrs281864953GRCh37Chr 12, 102183797: 102183797
26GNPTABNM_024312.4(GNPTAB): c.2693delA (p.Lys898Serfs)deletionPathogenicrs281865000GRCh37Chr 12, 102158002: 102158002
27GNPTABNM_024312.4(GNPTAB): c.2715+2T> Gsingle nucleotide variantPathogenicrs281865001GRCh37Chr 12, 102157978: 102157978
28GNPTABNM_024312.4(GNPTAB): c.2777A> C (p.Gln926Pro)single nucleotide variantPathogenicrs281865002GRCh37Chr 12, 102155480: 102155480
29GNPTABNM_024312.4(GNPTAB): c.2866C> T (p.His956Tyr)single nucleotide variantPathogenicrs281865004GRCh37Chr 12, 102155391: 102155391
30GNPTABNM_024312.4(GNPTAB): c.2867A> G (p.His956Arg)single nucleotide variantPathogenicrs281865005GRCh37Chr 12, 102155390: 102155390
31GNPTABNM_024312.4(GNPTAB): c.3443_3446delTTTG (p.Val1148Alafs)deletionPathogenicrs281865018GRCh37Chr 12, 102147306: 102147309
32GNPTABNM_024312.4(GNPTAB): c.3458A> G (p.Asn1153Ser)single nucleotide variantPathogenicrs281865019GRCh37Chr 12, 102147294: 102147294
33GNPTABNM_024312.4(GNPTAB): c.44C> A (p.Ser15Tyr)single nucleotide variantPathogenicrs281864947GRCh37Chr 12, 102224410: 102224410
34GNPTABNM_024312.4(GNPTAB): c.517_518insA (p.Pro173Hisfs)insertionPathogenicrs281864957GRCh37Chr 12, 102179843: 102179844
35GNPTABNM_024312.4(GNPTAB): c.571+3A> Csingle nucleotide variantPathogenicrs281864960GRCh37Chr 12, 102179787: 102179787
36MCOLN1NM_020533.2(MCOLN1): c.406-2A> Gsingle nucleotide variantPathogenicrs104886461GRCh37Chr 19, 7591645: 7591645
37MCOLN1NG_015806.1: g.4127_10560deldeletionPathogenicGRCh37Chr 19, 7586622: 7593055
38MCOLN1NM_020533.2(MCOLN1): c.964C> T (p.Arg322Ter)single nucleotide variantPathogenicrs121908371GRCh37Chr 19, 7593569: 7593569
39MCOLN1MCOLN1, 3-BP DEL, 1346CTTdeletionPathogenic
40MCOLN1NM_020533.2(MCOLN1): c.1084G> T (p.Asp362Tyr)single nucleotide variantPathogenicrs121908372GRCh37Chr 19, 7593806: 7593806
41MCOLN1NM_020533.2(MCOLN1): c.304C> T (p.Arg102Ter)single nucleotide variantPathogenicrs121908373GRCh37Chr 19, 7591391: 7591391
42MCOLN1NM_020533.2(MCOLN1): c.1207C> T (p.Arg403Cys)single nucleotide variantPathogenicrs121908374GRCh37Chr 19, 7594059: 7594059
43MCOLN1MCOLN1, 93-BP INS, NT236insertionPathogenic
44MCOLN1MCOLN1, 1704A-Tsingle nucleotide variantPathogenic

Expression for genes affiliated with Mucolipidosis Iv

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2BioGPS, 16Gene 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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51PathCards, 31KEGG
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Pathways related to Mucolipidosis Iv according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Mucolipidosis Iv

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46Novoseek
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Compounds related to Mucolipidosis Iv according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lipid469.1HEXA, MCOLN1

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet