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

Summaries for Mucolipidosis Iv

Sources:
²²Genetics Home Reference, ⁴⁶OMIM, ²⁰GeneReviews, ³²MalaCards
See all sources

OMIM:⁴⁶ 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: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.

GeneReviews summary for ml4

Aliases & Classifications for Mucolipidosis Iv

Sources:
²⁰GeneReviews, ⁴²NIH Rare Diseases, ²¹GeneTests, ²³GTR, ²²Genetics Home Reference, ⁴⁶OMIM, ⁴⁴Novoseek, ⁴⁸Orphanet, ⁶¹UMLS, ²⁷ICD10 via Orphanet, ⁶²UMLS via Orphanet
See all sources

Mucolipidosis Iv, Aliases & Descriptions:

Name: Mucolipidosis Iv ²⁰ ⁴⁶

Ganglioside Sialidase Deficiency ⁴² ²³ ²² ⁶¹

Mucolipidosis Type 4 ⁴² ²¹ ⁴⁸

Mucolipidosis Type Iv ²² ⁶¹

Ganglioside Neuraminidase Deficiency ⁴²

Type Iv Mucolipidosis ⁴⁴

Berman Syndrome ⁴²

Sialolipidosis ²²

Mliv ²²

Ml 4 ⁴²

Ml4 ²²

Classifications:

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

ICD10: ²⁷

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Other gangliosidosis

Orphanet: ⁴⁸

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

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 Orphanet²⁷ E75.1

UMLS via Orphanet⁶² C0238286

Related Diseases for Mucolipidosis Iv

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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:

id	Related Disease	Score	Top Affiliating Genes
1	mucolipidosis	31.5	MCOLN1
2	muscle disorders	10.1
3	retinitis	10.1
4	lysosomal storage disease	9.9	HEXA, MCOLN1

Symptoms for Mucolipidosis Iv

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology, ⁴⁸Orphanet
See all sources

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

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Mucolipidosis Iv

Search NIH Clinical Center for Mucolipidosis Iv

Genetic Tests for Mucolipidosis Iv

Sources:
²¹GeneTests, ²³GTR
See all sources

Genetic tests related to Mucolipidosis Iv:

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

Anatomical Context for Mucolipidosis Iv

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Mucolipidosis Iv:

³²

Eye, Skin, Brain

Animal Models for Mucolipidosis Iv or affiliated genes

Sources:
³⁶MGI
See all sources

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	HEXA, MCOLN1
2	renal/urinary system phenotype	MP:0005367	8.8	HEXA, MCOLN1

Publications for Mucolipidosis Iv

Sources:
⁵¹PubMed
See all sources

Articles related to Mucolipidosis Iv:

(show all 49)

id	Title	Authors	Year
1	Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV. (25200117)	Grishchuk Y.... Slaugenhaupt S.A.	2014
2	A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child. (25156245)	Mirabelli-Badenier M.... Filocamo M.	2014
3	A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. (23685283)	Albakheet A.... Al-Sayed M.	2013
4	Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. (20864526)	Eichelsdoerfer J.L.... Cuajungco M.P.	2010
5	What's your diagnosis? Mucolipidosis IV (Berman syndrome). (19496492)	Yeung H.H.	2009
6	A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent. (19073851)	Bindu P.S.... Pal P.K.	2008
7	Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. (17239335)	Dobrovolny R.... Elleder M.	2007
8	Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. (16645217)	Hantash F.M.... Strom C.M.	2006
9	Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. (15523648)	Goldin E.... Schiffmann R.	2004
10	Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. (15336987)	LaPlante J.M.... Vassilev P.M.	2004
11	Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging. (12940649)	Bonavita S.... Schiffmann R.	2003
12	Electronegative electroretinogram in mucolipidosis IV. (11786056)	Pradhan S.M.... Weleber R.G.	2002
13	Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. (12368990)	Bargal R.... Bach G.	2002
14	Mucolipidosis IV in an African American patient with new findings on electron microscopy. (11413414)	Noffke A.S.... Roth S.I.	2001
15	G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts. (10227679)	Raghavan S.... Kolodny E.H.	1999
16	Mucolipidosis IV consists of one complementation group. (10411915)	Goldin E.... Schiffmann R.	1999
17	Mucolipidosis IV: morphology and histochemistry of an autopsy case. (7876885)	Folkerth R.D.... Kolodny E.H.	1995
18	Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid. (7837760)	Goldin E.... Hascall V.C.	1994
19	Mucolipidosis IV (20301393)	Pagon R.A.... Stephens K.	1993
20	Stimulation of GM3 ganglioside sialidase activity by an activator protein in patients with mucolipidosis IV and controls. (1806363)	Ben-Yoseph Y.... Pretzlaff R.K.	1991
21	Corneal surface irregularities and episodic pain in a patient with mucolipidosis IV. (2302112)	Newman N.J.... Kolodny E.H.	1990
22	Muscle involvement in mucolipidosis IV. (2288386)	Weitz R.... Kohn G.	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)	Lieser M.... Cantz M.	1989
24	Phosphatidylcholine storage in mucolipidosis IV. (2736780)	Bargal R.... Bach G.	1989
25	Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. (3139925)	Bargal R.... Bach G.	1988
26	Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts. (3168971)	Bach G.... Desnick R.J.	1988
27	Early prenatal diagnosis of mucolipidosis IV. (3425607)	Ornoy A.... Bach G.	1987
28	Internalization of exogenous gangliosides in cultured skin fibroblasts for the diagnosis of mucolipidosis IV. (3087662)	Zeigler M.... Bach G.	1986
29	Retinal function in mucolipidosis IV. (4088609)	Abraham F.A.... Merin S.	1985
30	Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation. (3970116)	Dangel M.E.... Rogers G.L.	1985
31	Ocular abnormalities in mucolipidosis IV. (3918453)	Riedel K.G.... Albert D.M.	1985
32	Mucolipidosis IV. (6847966)	Cantani A.	1983
33	A muscle disorder as presenting symptom in a child with mucolipidosis IV. (6877526)	Zlotogora J.... Cohen T.	1983
34	Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency. (6820444)	Caimi L.... Martin J.J.	1982
35	Mucolipidosis IV: prenatal diagnosis by electron microscopy. (7156027)	Kohn G.... Ornoy A.	1982
36	Morphologic and chemical biopsy findings in mucolipidosis IV. (6301721)	Goebel H.H.... Lenard H.G.	1982
37	Two brothers with presumed mucolipidosis IV. (7171766)	Zwaan J.... Kenyon K.R.	1982
38	Review article: mucolipidosis IV. (7114093)	Crandall B.F.... Bluestone D.A.	1982
39	Catalytically defective ganglioside neuraminidase in mucolipidosis IV. (6813002)	Ben-Yoseph Y.... Nadler H.L.	1982
40	Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin. (220944)	Kenyon K.R.... Hiatt R.L.	1979
41	Mucolipidosis IV. (231746)	GoutiA"res F.... Aicardi J.	1979
42	Mucolipidosis IV: fetal and placental pathology. A report on two subsequent interruptions of pregnancy. (723903)	Sekeles E.... Kohn G.	1978
43	Mucolipidosis IV: ultrastructural diagnosis of a recently defined genetic disorder. (581454)	Livni N.... Merin S.	1978
44	Prenatal diagnosis of mucolipidosis IV by electron microscopy. (830895)	Kohn G.... COHEN M.M.	1977
45	Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. (145180)	Bach G.... COHEN M.M.	1977
46	Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy. (187156)	Tellez-Nagel I.... Nitowsky H.	1976
47	The cornea in mucolipidosis IV. (1018215)	Merin S.... Lazar M.	1976
48	Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV. (1191304)	Bach G.... Kohn G.	1975
49	Mucolipidosis IV: ocular, systemic, and ultrastructural findings. (166049)	Merin S.... Yatziv S.	1975

Genes related to Mucolipidosis Iv

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁷Clinvar, ⁶³UniProtKB/Swiss-Prot, ²¹GeneTests, ⁴⁸Orphanet
See all sources

Genes related to Mucolipidosis Iv:

- Elite gene

id	Symbol	Products	Description	Score	Implication
1	MCOLN1		mucolipin 1	25.18	Molecular basis known ⁴⁶ Pathogenic ⁷ Causative variation ⁶³ Genetic Tests ²¹ Causative germline mutation (loss of function) ⁴⁸ GeneCards inferred via : Publications, Disorders (show sections)
2	HEXA		hexosaminidase A (alpha polypeptide)	15.17	GeneCards inferred via : Publications (show sections)

Products for genes related to Mucolipidosis Iv disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	2	-	2	2
2	Novus Biologicals	2	2	2	-

Variations for Mucolipidosis Iv

Sources:
⁶³UniProtKB/Swiss-Prot, ⁷Clinvar
See all sources

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

⁶³

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

Clinvar genetic disease variations for Mucolipidosis Iv:

⁷

id	Gene	Name	Type	Significance	SNP ID	Assembly	Location
1	MCOLN1	NM_020533.2(MCOLN1): c.406-2A> G	single nucleotide variant	Pathogenic	rs104886461	GRCh37	Chr 19, 7591645: 7591645
2	MCOLN1	NG_015806.1: g.4127_10560del	deletion	Pathogenic		GRCh37	Chr 19, 7586622: 7593055
3	MCOLN1	NM_020533.2(MCOLN1): c.964C> T (p.Arg322Ter)	single nucleotide variant	Pathogenic	rs121908371	GRCh37	Chr 19, 7593569: 7593569
4	MCOLN1	MCOLN1, 3-BP DEL, 1346CTT	deletion	Pathogenic
5	MCOLN1	NM_020533.2(MCOLN1): c.1084G> T (p.Asp362Tyr)	single nucleotide variant	Pathogenic	rs121908372	GRCh37	Chr 19, 7593806: 7593806
6	MCOLN1	NM_020533.2(MCOLN1): c.304C> T (p.Arg102Ter)	single nucleotide variant	Pathogenic	rs121908373	GRCh37	Chr 19, 7591391: 7591391
7	MCOLN1	NM_020533.2(MCOLN1): c.1207C> T (p.Arg403Cys)	single nucleotide variant	Pathogenic	rs121908374	GRCh37	Chr 19, 7594059: 7594059
8	MCOLN1	MCOLN1, 93-BP INS, NT236	insertion	Pathogenic
9	MCOLN1	MCOLN1, 1704A-T	single nucleotide variant	Pathogenic