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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: Ichthyosiform Erythroderma, Congenital (D016113)
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
Parent Node: Muscular Diseases (D009135)
..Starting node ..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
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:

11266

Name:

Triglyceride storage disease with impaired long-chain fatty acid oxidation

Definition:

Alternative IDs:

OMIM:275630

ParentIDs:

MESH:D008052|MESH:D009135|MESH:D016113

TreeNumbers:

C05.651/C536560 |C10.668.491/C536560 |C16.131.831.512.400/C536560 |C16.320.565.398/C536560 |C16.320.850.400/C536560 |C16.614.492.400/C536560 |C17.800.428.333.250/C536560 |C17.800.804.512.400/C536560 |C17.800.827.400/C536560 |C18.452.584.562/C536560 |C18.452.648.39

Synonyms:

Slim Mappings:

Reference:

MedGen: C536560
MeSH: C536560
OMIM: 275630;

Genes: ABHD5;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001871	Abnormality of blood and blood-forming tissues
3	HP:0001596	Alopecia
4	HP:0001251	Ataxia
5	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
6	HP:0000656	Ectropion
7	HP:0000232	Everted lower lip vermilion
8	HP:0001397	Hepatic steatosis
9	HP:0002240	Hepatomegaly
10	HP:0001249	Intellectual disability
11	HP:0008551	Microtia
12	HP:0001324	Muscle weakness
13	HP:0003198	Myopathy
14	HP:0000639	Nystagmus
15	HP:0000407	Sensorineural hearing impairment
16	HP:0000486	Strabismus
17	HP:0000523	Subcapsular cataract

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_016006.4(ABHD5):c.19G>A (p.Glu7Lys)	-1	-	Pathogenic	104893676	RCV000005680;	N	MedGen:C0268238,OMIM:275630,ORPHA:165,SNOMED CT:19604005	3	43732503	43732503	NM_016006.4:c.19G>A	NP_057090.2:p.Glu7Lys	NC_000003.11:g.43732503G>A	OMIM Allelic Variant:604780.0005	C0268238 275630 Triglyceride storage disease with ichthyosis
NM_016006.4(ABHD5):c.46_47delAG (p.Arg16Valfs)	-1	-	Pathogenic	387906336	RCV000005683;	N	MedGen:C0268238,OMIM:275630,ORPHA:165,SNOMED CT:19604005	3	43732530	43732531	NM_016006.4:c.46_47delAG	NP_057090.2:p.Arg16Valfs	NC_000003.11:g.43732530_43732531delAG	OMIM Allelic Variant:604780.0008	C0268238 275630 Triglyceride storage disease with ichthyosis
NM_016006.4(ABHD5):c.98C>G (p.Ser33Ter)	51099	ABHD5	Pathogenic	104893675	RCV000005677;	N	MedGen:C0268238,OMIM:275630,ORPHA:165,SNOMED CT:19604005	3	43740818	43740818	NM_016006.4:c.98C>G	NP_057090.2:p.Ser33Ter	NC_000003.11:g.43740818C>G	OMIM Allelic Variant:604780.0002	C0268238 275630 Triglyceride storage disease with ichthyosis
NM_016006.4(ABHD5):c.389A>C (p.Gln130Pro)	51099	ABHD5	Pathogenic	28939077	RCV000005679;	N	MedGen:C0268238,OMIM:275630,ORPHA:165,SNOMED CT:19604005	3	43743962	43743962	NM_016006.4:c.389A>C	NP_057090.2:p.Gln130Pro	NC_000003.11:g.43743962A>C	OMIM Allelic Variant:604780.0004	C0268238 275630 Triglyceride storage disease with ichthyosis
NM_016006.4(ABHD5):c.594dupC (p.Arg199Glnfs)	51099	ABHD5	Pathogenic	387906335	RCV000005681;	N	MedGen:C0268238,OMIM:275630,ORPHA:165,SNOMED CT:19604005	3	43753288	43753288	NM_016006.4:c.594dupC	NP_057090.2:p.Arg199Glnfs	NC_000003.11:g.43753288dupC	OMIM Allelic Variant:604780.0006	C0268238 275630 Triglyceride storage disease with ichthyosis
NM_016006.4(ABHD5):c.778G>A (p.Glu260Lys)	51099	ABHD5	Pathogenic	28939078	RCV000005682;	N	MedGen:C0268238,OMIM:275630,ORPHA:165,SNOMED CT:19604005	3	43759167	43759167	NM_016006.4:c.778G>A	NP_057090.2:p.Glu260Lys	NC_000003.11:g.43759167G>A	OMIM Allelic Variant:604780.0007	C0268238 275630 Triglyceride storage disease with ichthyosis