Mucolipidosis type IV

Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.



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Narrow down the case reports



Total: 12 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(57.8%)		 19006653
 Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.
Tuysuz B, Goldin E, Metin B, Korkmaz B, Yalcinkaya C.
Brain Dev. 2009;31(9):702-5.
Micrognathia
MCOLN1
c|SUB|A|IVS3-2|G c|SUB|C|1364|T p|SUB|S|456|L
Child Corpus Callosum Genetic Predisposition to Disease Homo sapiens Magnetic Resonance Imaging Male Micrognathism Mucolipidoses Phenotype Point Mutation TRPM Cation Channels Transient Receptor Potential Channels
2
(26.3%)		 23685283
 A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.
AlBakheet A, Qari A, Colak D, Rasheed A, Kaya N, Al-Sayed M.
Gene. 2013;526(2):464-6.
Coarse facial features
GAST MCOLN1
c|SUB|A|1307|G p|SUB|Y|436|C
Brain Child Homo sapiens Magnetic Resonance Imaging Male Mucolipidoses Mutation Phenotype Transient Receptor Potential Channels
3
(17.5%)		 20159435
(2824620)
 Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.
Geer JS, Skinner SA, Goldin E, Holden KR.
Pediatr Neurol. 2010;42(3):223-6.
Generalized hypotonia
GAST MCOLN1
Brain Child Child, Preschool CpG Islands DNA Mutational Analysis DNA Primers Exons Females Genetic Predisposition to Disease Haplotypes Homo sapiens Jews Magnetic Resonance Imaging Membrane Proteins Missense Mutation Mucolipidoses Neurodegenerative Disorders Polymerase Chain Reaction TRPM Cation Channels Transient Receptor Potential Channels
4
(4.0%)		 27190617
(4856247)
 The first genetically confirmed Japanese patient with mucolipidosis type IV.
Saijo H, Hayashi M, Ezoe T, Ohba C, Saitsu H, Kurata K, Matsumoto N.
Clin Case Rep. 2016;4(5):509-12.
Visual impairment
MCOLN1 NUP62
4
(4.0%)		 25156245
 A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.
Mirabelli-Badenier M, Severino M, Tappino B, Tortora D, Camia F, Zanaboni C, Brera F, Priolo E, Rossi A, Biancheri R, Di Rocco M, Filocamo M.
Metab Brain Dis. 2015;30(3):681-6.
Visual impairment
GAST MCOLN1
c|DEL|395_397|CTG c|DUP|468_474|TTGGACC| p|DEL|132| p|FS|N|159|L|27
Alleles Child, Preschool Homo sapiens Homozygote Italy Male Mucolipidoses Mutation Transient Receptor Potential Channels
4
(4.0%)		 18326692
 Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.
Goldin E, Caruso RC, Benko W, Kaneski CR, Stahl S, Schiffmann R.
Invest Ophthalmol Vis Sci. 2008;49(7):3134-42.
Achlorhydria
GAST MCOLN1
c|DEL|1615|G;RS#:797044819 c|DEL|920|T;RS#:755042147 rs1555742780 rs797044831
Achlorhydria Electroretinography Gastrins Gene Deletion Heterozygote Homo sapiens Male Mucolipidoses Mutation Retinal Bipolar Cells Retinal Diseases Rod Photoreceptors TRPM Cation Channels Transient Receptor Potential Channels
4
(4.0%)		 17239335
 Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.
Dobrovolny R, Liskova P, Ledvinova J, Poupetova H, Asfaw B, Filipec M, Jirsova K, Kraus J, Elleder M.
Am J Ophthalmol. 2007;143(4):663-71.
Psychomotor deterioration
MCOLN1
c|SUB|A||T p|SUB|D|362|Y;RS#:121908372 rs121908372 rs751298168
Alternative Splicing Child Conjunctival Diseases Corneal Diseases DNA Mutational Analysis Electroretinography Epithelial Cells Females Fibroblasts Homo sapiens Leukocytes Lysosomes Mucolipidoses Mutation Phenotype Polymerase Chain Reaction RNA, Messenger Retinal Degeneration Skin TRPM Cation Channels Transient Receptor Potential Channels
4
(4.0%)		 8135288
 Mucolipidosis type IV: a mild form with late onset.
Reis S, Sheffer RN, Merin S, Luder AS, Bach G.
Am J Med Genet. 1993;47(3):392-4.
Retinal degeneration
MCOLN1
Age of Onset Cultured Cells Females Fibroblasts Gangliosides Homo sapiens Incidence Jews Mucolipidoses Phenotype Psychomotor Disorders Vision Disorders
4
(4.0%)		 7876885
 Mucolipidosis IV: morphology and histochemistry of an autopsy case.
Folkerth RD, Alroy J, Lomakina I, Skutelsky E, Raghavan SS, Kolodny EH.
J Neuropathol Exp Neurol. 1995;54(2):154-64.
Astrocytosis
Adult Autopsy Brain Carbohydrate Sequence Histocytochemistry Homo sapiens Kidney Glomerulus Lectin Liver Male Molecular Sequence Data Mucolipidoses Protein Binding
4
(4.0%)		 3918453
 Ocular abnormalities in mucolipidosis IV.
Riedel KG, Zwaan J, Kenyon KR, Kolodny EH, Hanninen L, Albert DM.
Am J Ophthalmol. 1985;99(2):125-36.
Cataract
Adult Corneal Opacity Electron Microscopy Face Homo sapiens Intellectual Disability Male Mucolipidoses Optic Atrophy Psychomotor Disorders Retinal Degeneration Retinal Ganglion Cells
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000488 Retinopathy Very frequent (99-80%)
HP:0000613 Photophobia Very frequent (99-80%)
HP:0000708 Behavioral abnormality Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0001344 Absent speech Very frequent (99-80%)
HP:0001347 Hyperreflexia Very frequent (99-80%)
HP:0004345 Ganglioside accumulation Very frequent (99-80%)
HP:0007281 Developmental stagnation Very frequent (99-80%)
HP:0007957 Corneal opacity Very frequent (99-80%)
HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature Very frequent (99-80%)
HP:0011020 Abnormality of mucopolysaccharide metabolism Very frequent (99-80%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0001251 Ataxia Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0002353 EEG abnormality Frequent (79-30%)
HP:0000232 Everted lower lip vermilion Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000280 Coarse facial features Occasional (29-5%)
HP:0000512 Abnormal electroretinogram Occasional (29-5%)
HP:0000691 Microdontia Occasional (29-5%)
HP:0000982 Palmoplantar keratoderma Occasional (29-5%)
HP:0002816 Genu recurvatum Occasional (29-5%)
HP:0004422 Biparietal narrowing Occasional (29-5%)
HP:0005105 Abnormal nasal morphology Occasional (29-5%)
HP:0007703 Abnormality of retinal pigmentation Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0000505 Visual impairment 2
HP:0000347 Micrognathia 1
HP:0001290 Generalized hypotonia 1
HP:0002180 Neurodegeneration 1
HP:0012758 Neurodevelopmental delay 1
HP:0030084 Clinodactyly 1
HP:0032448 Achlorhydria 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
MCOLN1 mucolipin 1 57192