MCID: MCL013
MIFTS: 41

Mucolipidosis Iv malady

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

Aliases & Classifications for Mucolipidosis Iv

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 22GTR, 47Orphanet, 60UMLS, 43Novoseek, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Mucolipidosis Iv, Aliases & Descriptions:

Name: Mucolipidosis Iv 45 10 19
Ganglioside Sialidase Deficiency 41 21 22
Mucolipidosis Type Iv 21 47 60
Mucolipidosis Type 4 41 20
Ganglioside Neuraminidase Deficiency 41
Type Iv Mucolipidosis 43
 
Berman Syndrome 41
Sialolipidosis 21
Mliv 21
Ml 4 41
Ml4 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
mucolipidosis type iv:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy


External Ids:

OMIM45 252650
Orphanet47 578
ICD10 via Orphanet26 E75.1
UMLS via Orphanet61 C0238286

Summaries for Mucolipidosis Iv

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OMIM:45 Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor... (252650) more...

MalaCards based summary: Mucolipidosis Iv, also known as ganglioside sialidase deficiency, is related to mucolipidosis and muscle disorders, and has symptoms including strabismus, 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.

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.

GeneReviews summary for ml4

Related Diseases for Mucolipidosis Iv

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Diseases in the Mucolipidosis family:

Mucolipidosis Iii Alpha/beta Mucolipidosis Ii Alpha/beta
Mucolipidosis Iii Gamma mucolipidosis iv

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

idRelated DiseaseScoreTop Affiliating Genes
1mucolipidosis31.4MCOLN1
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:

 47 (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:

31
Eye, Skin, Brain

Animal Models for Mucolipidosis Iv or affiliated genes

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MGI Mouse Phenotypes related to Mucolipidosis Iv:

35
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 48)
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
Electronegative electroretinogram in mucolipidosis IV. (11786056)
2002
12
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. (12368990)
2002
13
Mucolipidosis IV in an African American patient with new findings on electron microscopy. (11413414)
2001
14
G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts. (10227679)
1999
15
Mucolipidosis IV consists of one complementation group. (10411915)
1999
16
Mucolipidosis IV: morphology and histochemistry of an autopsy case. (7876885)
1995
17
Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid. (7837760)
1994
18
Mucolipidosis IV (20301393)
1993
19
Stimulation of GM3 ganglioside sialidase activity by an activator protein in patients with mucolipidosis IV and controls. (1806363)
1991
20
Corneal surface irregularities and episodic pain in a patient with mucolipidosis IV. (2302112)
1990
21
Muscle involvement in mucolipidosis IV. (2288386)
1990
22
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
23
Phosphatidylcholine storage in mucolipidosis IV. (2736780)
1989
24
Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. (3139925)
1988
25
Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts. (3168971)
1988
26
Early prenatal diagnosis of mucolipidosis IV. (3425607)
1987
27
Internalization of exogenous gangliosides in cultured skin fibroblasts for the diagnosis of mucolipidosis IV. (3087662)
1986
28
Retinal function in mucolipidosis IV. (4088609)
1985
29
Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. (3970116)
1985
30
Ocular abnormalities in mucolipidosis IV. (3918453)
1985
31
Mucolipidosis IV. (6847966)
1983
32
A muscle disorder as presenting symptom in a child with mucolipidosis IV. (6877526)
1983
33
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency. (6820444)
1982
34
Mucolipidosis IV: prenatal diagnosis by electron microscopy. (7156027)
1982
35
Morphologic and chemical biopsy findings in mucolipidosis IV. (6301721)
1982
36
Two brothers with presumed mucolipidosis IV. (7171766)
1982
37
Review article: mucolipidosis IV. (7114093)
1982
38
Catalytically defective ganglioside neuraminidase in mucolipidosis IV. (6813002)
1982
39
Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin. (220944)
1979
40
Mucolipidosis IV. (231746)
1979
41
Mucolipidosis IV: fetal and placental pathology. A report on two subsequent interruptions of pregnancy. (723903)
1978
42
Mucolipidosis IV: ultrastructural diagnosis of a recently defined genetic disorder. (581454)
1978
43
Prenatal diagnosis of mucolipidosis IV by electron microscopy. (830895)
1977
44
Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. (145180)
1977
45
Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy. (187156)
1976
46
The cornea in mucolipidosis IV. (1018215)
1976
47
Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV. (1191304)
1975
48
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:

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

Clinvar genetic disease variations for Mucolipidosis Iv:

6
id Gene Variation 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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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 Suite gene sharing:

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

Compounds for genes affiliated with Mucolipidosis Iv

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Sources:
43Novoseek
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Compounds related to Mucolipidosis Iv according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1lipid439.1HEXA, 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
  • Proteins
  • Kits and Assays

Sources for Mucolipidosis Iv

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet