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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
Parent Node: Muscular Diseases (D009135)
..Starting node ..Neutral Lipid Storage Disease with Myopathy (C565192)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy (C563848)
..Anal Sphincter Myopathy, Internal (C566287)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Arthrogryposis (D001176) 55
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Compartment Syndromes (D003161) 3
..Contracture (D003286) 41
..Craniomandibular Disorders (D017271) 4
..Dimauro disease (C536176)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Eosinophilia-Myalgia Syndrome (D016603)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Erythrocyte Amp Deaminase Deficiency (C567878)
..Erythrocyte Lactate Transporter Defect (C565449)
..Fatigue Syndrome, Chronic (D015673)
..Fibromyalgia (D005356)
..Fingerprint Body Myopathy (C564425)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypertrophia Musculorum Vera (C564152)
..Isaacs Syndrome (D020386)
..Kocher-Debre-Semelaigne syndrome (C537211)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Medial Tibial Stress Syndrome (D058923)
..Mesoectodermal dysplasia (C538472)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Muscle Cramp (D009120) 3
..Muscle Neoplasms (D019042)
..Muscle Rigidity (D009127) 3
..Muscle Spasticity (D009128) 17
..Muscle Weakness (D018908) 5
..Muscular Disorders, Atrophic (D020966) 120
..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..Musculoskeletal Pain (D059352) 2
..Myalgia (D063806)
..Myofascial Pain Syndromes (D009209) 1
..Myopathic carnitine deficiency (C536100)
..Myopathies, Structural, Congenital (D020914) 34
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy with Lactic Acidosis, Hereditary (C564972)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..Myopathy, Hyaline Body, Autosomal Recessive (C564970)
..MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..Myopathy, Myosin Storage (C564253)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myositis (D009220) 16
..Myostatin-related muscle hypertrophy (C536106)
..Myotonic Disorders (D020967) 10
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Paralyses, Familial Periodic (D010245) 7
..Pectoralis Muscle, Absence of (C566793)
..Polymyalgia Rheumatica (D011111)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Rhabdomyolysis (D012206) 6
..Rippling muscle disease, 1 (C535686)
..Salih Myopathy (C580430)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Singleton Merten syndrome (C537343)
..Systemic carnitine deficiency (C536778)
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendinopathy (D052256) 5
..Treft Sanborn Carey syndrome (C536544)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
..Vacuolar myopathy (C536522)
..VLCAD deficiency (C536353)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8018

Name:

Neutral Lipid Storage Disease with Myopathy

Definition:

Alternative IDs:

OMIM:610717

ParentIDs:

MESH:D008052|MESH:D009135

TreeNumbers:

C05.651/C565192 |C10.668.491/C565192 |C16.320.565.398/C565192 |C18.452.584.562/C565192 |C18.452.648.398/C565192

Synonyms:

Neutral Lipid Storage Disease without Ichthyosis |NLSDM

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C565192
MeSH: C565192
OMIM: 610717;

Genes: PNPLA2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003581	Adult onset
3	HP:0001284	Areflexia	HP:0040283
4	HP:0001638	Cardiomyopathy	HP:0040283
5	HP:0000819	Diabetes mellitus	HP:0040283
6	HP:0009046	Difficulty running
7	HP:0002355	Difficulty walking
8	HP:0003388	Easy fatigability
9	HP:0003236	Elevated circulating creatine kinase concentration
10	HP:0002910	Elevated hepatic transaminase
11	HP:0003546	Exercise intolerance
12	HP:0002380	Fasciculations
13	HP:0001290	Generalized hypotonia
14	HP:0003391	Gowers sign
15	HP:0001397	Hepatic steatosis
16	HP:0002240	Hepatomegaly
17	HP:0002155	Hypertriglyceridemia	HP:0040283
18	HP:0009058	Increased muscle lipid content
19	HP:0003326	Myalgia
20	HP:0003198	Myopathy
21	HP:0000467	Neck muscle weakness	HP:0040283
22	HP:0003701	Proximal muscle weakness
23	HP:0000407	Sensorineural hearing impairment	HP:0040283
24	HP:0004322	Short stature	HP:0040283
25	HP:0003677	Slowly progressive
26	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_020376.3(PNPLA2):c.467delC (p.Pro156Leufs)	57104	PNPLA2	Pathogenic	796065307	RCV000033095;	N	MedGen:C1853136,OMIM:610717,ORPHA:98908	11	822004	822004	NM_020376.3:c.467delC	NP_065109.1:p.Pro156Leufs	NC_000011.9:g.822004delC	OMIM Allelic Variant:609059.0008	C1853136 610717 Neutral lipid storage disease with myopathy
NM_020376.3(PNPLA2):c.475_478dupCTCC (p.Gln160Profs)	57104	PNPLA2	Pathogenic	796065310	RCV000055643;	N	MedGen:C1853136,OMIM:610717,ORPHA:98908	11	822012	822015	NM_020376.3:c.475_478dupCTCC	NP_065109.1:p.Gln160Profs	NC_000011.9:g.822012_822015dupCTCC	OMIM Allelic Variant:609059.0011	C1853136 610717 Neutral lipid storage disease with myopathy
NM_020376.3(PNPLA2):c.543delC (p.Ile182Serfs)	57104	PNPLA2	Pathogenic	796065309	RCV000055642;	N	MedGen:C1853136,OMIM:610717,ORPHA:98908	11	822453	822453	NM_020376.3:c.543delC	NP_065109.1:p.Ile182Serfs	NC_000011.9:g.822453delC	OMIM Allelic Variant:609059.0010	C1853136 610717 Neutral lipid storage disease with myopathy
NM_020376.3(PNPLA2):c.584C>T (p.Pro195Leu)	57104	PNPLA2	Pathogenic	121918259	RCV000001951;	N	MedGen:C1853136,OMIM:610717,ORPHA:98908	11	822494	822494	NM_020376.3:c.584C>T	NP_065109.1:p.Pro195Leu	NC_000011.9:g.822494C>T	OMIM Allelic Variant:609059.0002	C1853136 610717 Neutral lipid storage disease with myopathy
NM_020376.3(PNPLA2):c.613dupC (p.Leu205Profs)	57104	PNPLA2	Pathogenic	796065308	RCV000055641;	N	MedGen:C1853136,OMIM:610717,ORPHA:98908	11	822523	822523	NM_020376.3:c.613dupC	NP_065109.1:p.Leu205Profs	NC_000011.9:g.822523dupC	OMIM Allelic Variant:609059.0009	C1853136 610717 Neutral lipid storage disease with myopathy
NM_020376.3(PNPLA2):c.749A>C (p.Gln250Pro)	57104	PNPLA2	Pathogenic	397514625	RCV000033093;	N	MedGen:C1853136,OMIM:610717,ORPHA:98908	11	823579	823579	NM_020376.3:c.749A>C	NP_065109.1:p.Gln250Pro	NC_000011.9:g.823579A>C	OMIM Allelic Variant:609059.0006	C1853136 610717 Neutral lipid storage disease with myopathy
NG_023394.1:g.9688G>T	57104	PNPLA2	Pathogenic	869320738	RCV000033094;	N	MedGen:C1853136,OMIM:610717,ORPHA:98908	11	823588	823588	NM_020376.3:c.757+1G>T			OMIM Allelic Variant:609059.0007	C1853136 610717 Neutral lipid storage disease with myopathy
NM_020376.3(PNPLA2):c.757+2T>C	57104	PNPLA2	Pathogenic	777539013	RCV000033092;	N	MedGen:C1853136,OMIM:610717,ORPHA:98908	11	823589	823589	NM_020376.3:c.757+2T>C		NC_000011.9:g.823589T>C	OMIM Allelic Variant:609059.0005	C1853136 610717 Neutral lipid storage disease with myopathy
NM_020376.3(PNPLA2):c.808delC (p.His270Thrfs)	57104	PNPLA2	Pathogenic	796065303	RCV000001950;	N	MedGen:C1853136,OMIM:610717,ORPHA:98908	11	823744	823744	NM_020376.3:c.808delC	NP_065109.1:p.His270Thrfs	NC_000011.9:g.823744delC	OMIM Allelic Variant:609059.0001	C1853136 610717 Neutral lipid storage disease with myopathy
NM_020376.3(PNPLA2):c.847delC (p.Gln283Lysfs)	57104	PNPLA2	Pathogenic	796065304	RCV000001952;	N	MedGen:C1853136,OMIM:610717,ORPHA:98908	11	823783	823783	NM_020376.3:c.847delC	NP_065109.1:p.Gln283Lysfs	NC_000011.9:g.823783delC	OMIM Allelic Variant:609059.0003	C1853136 610717 Neutral lipid storage disease with myopathy
NM_020376.3(PNPLA2):c.865C>T (p.Gln289Ter)	57104	PNPLA2	Pathogenic	121918260	RCV000001953;	N	MedGen:C1853136,OMIM:610717,ORPHA:98908	11	823801	823801	NM_020376.3:c.865C>T	NP_065109.1:p.Gln289Ter	NC_000011.9:g.823801C>T	OMIM Allelic Variant:609059.0004	C1853136 610717 Neutral lipid storage disease with myopathy