ML4
MCID: MCL013
MIFTS: 46

Mucolipidosis Iv (ML4) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Bone diseases, Fetal diseases categories
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Summaries for Mucolipidosis Iv

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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 based summary: Mucolipidosis Iv, also known as ganglioside sialidase deficiency, is related to mucolipidosis and muscle disorders, and has symptoms including corneal clouding/opacity/vascularisation, retinopathy and photophobia. 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:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Mucolipidosis Iv, Aliases & Descriptions:

Name: Mucolipidosis Iv 19 46
Ganglioside Sialidase Deficiency 42 22 21 62
Mucolipidosis Type 4 42 20 48
Mucolipidosis Type Iv 21 62
Ganglioside Neuraminidase Deficiency 42
Type Iv Mucolipidosis 44
 
Berman Syndrome 42
Sialolipidosis 21
Mliv 21
Ml 4 42
Ml4 21


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 252650
ICD10 via Orphanet26 E75.1
UMLS via Orphanet63 C0238286

Related Diseases for Mucolipidosis Iv

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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
1mucolipidosis31.5MCOLN1
2muscle disorders10.1
3retinitis10.1
4lysosomal storage disease9.9HEXA, MCOLN1

Symptoms for Mucolipidosis Iv

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Symptoms by clinical synopsis from OMIM:

252650

Clinical features from OMIM:

252650

Symptoms:

48 (show all 26)
  • corneal clouding/opacity/vascularisation
  • 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
  • eeg anomalies
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • 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

HPO human phenotypes related to Mucolipidosis Iv:

(show all 46)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 retinopathy hallmark (90%) HP:0000488
3 photophobia hallmark (90%) HP:0000613
4 gait disturbance hallmark (90%) HP:0001288
5 hyperreflexia hallmark (90%) HP:0001347
6 neurological speech impairment hallmark (90%) HP:0002167
7 opacification of the corneal stroma hallmark (90%) HP:0007759
8 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
9 cognitive impairment hallmark (90%) HP:0100543
10 nystagmus typical (50%) HP:0000639
11 muscular hypotonia typical (50%) HP:0001252
12 incoordination typical (50%) HP:0002311
13 eeg abnormality typical (50%) HP:0002353
14 everted lower lip vermilion occasional (7.5%) HP:0000232
15 microcephaly occasional (7.5%) HP:0000252
16 coarse facial features occasional (7.5%) HP:0000280
17 narrow forehead occasional (7.5%) HP:0000341
18 abnormal electroretinogram occasional (7.5%) HP:0000512
19 microdontia occasional (7.5%) HP:0000691
20 palmoplantar keratoderma occasional (7.5%) HP:0000982
21 genu recurvatum occasional (7.5%) HP:0002816
22 abnormal nasal morphology occasional (7.5%) HP:0005105
23 abnormal retinal pigmentation occasional (7.5%) HP:0007703
24 autosomal recessive inheritance HP:0000007
25 microcephaly HP:0000252
26 strabismus HP:0000486
27 photophobia HP:0000613
28 optic atrophy HP:0000648
29 decreased electroretinogram (erg) amplitude HP:0000654
30 intellectual disability HP:0001249
31 muscular hypotonia HP:0001252
32 cerebellar atrophy HP:0001272
33 dystonia HP:0001332
34 absent speech HP:0001344
35 hyperreflexia HP:0001347
36 abnormality of the abdomen HP:0001438
37 spastic tetraplegia HP:0002510
38 babinski sign HP:0003487
39 infantile onset HP:0003593
40 abnormality of ganglioside metabolism HP:0004345
41 dysplastic corpus callosum HP:0006989
42 cerebral dysmyelination HP:0007266
43 developmental stagnation HP:0007281
44 opacification of the corneal stroma HP:0007759
45 progressive retinal degeneration HP:0007893
46 abnormality of mucopolysaccharide metabolism HP:0011020

Drugs & Therapeutics for Mucolipidosis Iv

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Drug clinical trials:

Search ClinicalTrials for Mucolipidosis Iv

Search NIH Clinical Center for Mucolipidosis Iv

Genetic Tests for Mucolipidosis Iv

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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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MalaCards organs/tissues related to Mucolipidosis Iv:

32
Eye, Skin, Brain

Animal Models for Mucolipidosis Iv or affiliated genes

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MGI Mouse Phenotypes related to Mucolipidosis Iv:

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

Publications for Mucolipidosis Iv

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Articles related to Mucolipidosis Iv:

(show all 49)
idTitleAuthorsYear
1
Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV. (25200117)
2014
2
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child. (25156245)
2014
3
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. (23685283)
2013
4
Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. (20864526)
2010
5
What's your diagnosis? Mucolipidosis IV (Berman syndrome). (19496492)
2009
6
A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent. (19073851)
2008
7
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. (17239335)
2007
8
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. (16645217)
2006
9
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. (15523648)
2004
10
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. (15336987)
2004
11
Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging. (12940649)
2003
12
Electronegative electroretinogram in mucolipidosis IV. (11786056)
2002
13
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. (12368990)
2002
14
Mucolipidosis IV in an African American patient with new findings on electron microscopy. (11413414)
2001
15
G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts. (10227679)
1999
16
Mucolipidosis IV consists of one complementation group. (10411915)
1999
17
Mucolipidosis IV: morphology and histochemistry of an autopsy case. (7876885)
1995
18
Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid. (7837760)
1994
19
Mucolipidosis IV (20301393)
1993
20
Stimulation of GM3 ganglioside sialidase activity by an activator protein in patients with mucolipidosis IV and controls. (1806363)
1991
21
Corneal surface irregularities and episodic pain in a patient with mucolipidosis IV. (2302112)
1990
22
Muscle involvement in mucolipidosis IV. (2288386)
1990
23
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
24
Phosphatidylcholine storage in mucolipidosis IV. (2736780)
1989
25
Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. (3139925)
1988
26
Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts. (3168971)
1988
27
Early prenatal diagnosis of mucolipidosis IV. (3425607)
1987
28
Internalization of exogenous gangliosides in cultured skin fibroblasts for the diagnosis of mucolipidosis IV. (3087662)
1986
29
Retinal function in mucolipidosis IV. (4088609)
1985
30
Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. (3970116)
1985
31
Ocular abnormalities in mucolipidosis IV. (3918453)
1985
32
Mucolipidosis IV. (6847966)
1983
33
A muscle disorder as presenting symptom in a child with mucolipidosis IV. (6877526)
1983
34
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency. (6820444)
1982
35
Mucolipidosis IV: prenatal diagnosis by electron microscopy. (7156027)
1982
36
Morphologic and chemical biopsy findings in mucolipidosis IV. (6301721)
1982
37
Two brothers with presumed mucolipidosis IV. (7171766)
1982
38
Review article: mucolipidosis IV. (7114093)
1982
39
Catalytically defective ganglioside neuraminidase in mucolipidosis IV. (6813002)
1982
40
Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin. (220944)
1979
41
Mucolipidosis IV. (231746)
1979
42
Mucolipidosis IV: fetal and placental pathology. A report on two subsequent interruptions of pregnancy. (723903)
1978
43
Mucolipidosis IV: ultrastructural diagnosis of a recently defined genetic disorder. (581454)
1978
44
Prenatal diagnosis of mucolipidosis IV by electron microscopy. (830895)
1977
45
Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. (145180)
1977
46
Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy. (187156)
1976
47
The cornea in mucolipidosis IV. (1018215)
1976
48
Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV. (1191304)
1975
49
Mucolipidosis IV: ocular, systemic, and ultrastructural findings. (166049)
1975

Variations for Mucolipidosis Iv

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UniProtKB/Swiss-Prot genetic disease variations for Mucolipidosis Iv:

64
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1MCOLN1NM_020533.2(MCOLN1): c.406-2A> Gsingle nucleotide variantPathogenicrs104886461GRCh37Chr 19, 7591645: 7591645
2MCOLN1NG_015806.1: g.4127_10560deldeletionPathogenicGRCh37Chr 19, 7586622: 7593055
3MCOLN1NM_020533.2(MCOLN1): c.964C> T (p.Arg322Ter)single nucleotide variantPathogenicrs121908371GRCh37Chr 19, 7593569: 7593569
4MCOLN1MCOLN1, 3-BP DEL, 1346CTTdeletionPathogenic
5MCOLN1NM_020533.2(MCOLN1): c.1084G> T (p.Asp362Tyr)single nucleotide variantPathogenicrs121908372GRCh37Chr 19, 7593806: 7593806
6MCOLN1NM_020533.2(MCOLN1): c.304C> T (p.Arg102Ter)single nucleotide variantPathogenicrs121908373GRCh37Chr 19, 7591391: 7591391
7MCOLN1NM_020533.2(MCOLN1): c.1207C> T (p.Arg403Cys)single nucleotide variantPathogenicrs121908374GRCh37Chr 19, 7594059: 7594059
8MCOLN1MCOLN1, 93-BP INS, NT236insertionPathogenic
9MCOLN1MCOLN1, 1704A-Tsingle nucleotide variantPathogenic

Expression for genes affiliated with Mucolipidosis Iv

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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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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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Sources:
44Novoseek
See all sources

Compounds related to Mucolipidosis Iv according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lipid449.1HEXA, 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

Sources for Mucolipidosis Iv

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet