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Hello! Guest! Please Login or Register! Clinician Mode

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: Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
..Starting node ..Tyrosinemias (D020176)
Child Nodes:
........Hawkinsinuria (C535845)
Sister Nodes:
..2-Hydroxyglutaricaciduria (C535306)
..Cerebral Amyloid Angiopathy, Familial (D028243) 2
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
..Ethylmalonic encephalopathy (C535737)
..Galactosemias (D005693)
..Hartnup Disease (D006250)
..Hepatolenticular Degeneration (D006527) 2
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Homocarnosinosis (C535328)
..Homocystinuria (D006712) 5
..Hyperglycinemia, Nonketotic (D020158) 1
..Hyperlysinemias (D020167) 3
..Leigh Disease (D007888) 12
..Lesch-Nyhan Syndrome (D007926) 1
..Lysosomal Storage Diseases, Nervous System (D020140) 70
..Maple Syrup Urine Disease (D008375) 5
..MELAS Syndrome (D017241) 1
..Menkes Kinky Hair Syndrome (D007706) 1
..MERRF Syndrome (D017243)
..Microphthalmia and mental deficiency (C537462)
..Oculocerebrorenal Syndrome (D009800) 1
..Peroxisomal Disorders (D018901) 39
..Phenylketonurias (D010661) 8
..Pyruvate Carboxylase Deficiency Disease (D015324) 1
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Silengo Lerone Pelizza syndrome (C537336)
..Tricarboxylic Acid Cycle, Defect of (C564762)
..Tyrosinemias (D020176) 1
..Urea Cycle Disorders, Inborn (D056806) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11358

Name:

Tyrosinemias

Definition:

A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)

Alternative IDs:

OMIM:276600|OMIM:276700|OMIM:276710

ParentIDs:

MESH:D000592|MESH:D020739

TreeNumbers:

C10.228.140.163.100.875 |C16.320.565.100.880 |C16.320.565.189.875 |C18.452.132.100.875 |C18.452.648.100.880 |C18.452.648.189.875

Synonyms:

2 Tyrosinemias, Type |2 Tyrosinemia, Type |4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease |4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease |4-Hydroxyphenylpyruvate Dioxygenase Deficiency |4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease

Slim Mappings:

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

Reference:

MedGen: D020176
MeSH: D020176
OMIM: 276600;

Genes: FAH; HPD; TAT;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003161	4-Hydroxyphenylpyruvic aciduria
3	HP:0000951	Abnormality of the skin
4	HP:0001510	Growth delay
5	HP:0007812	Herpetiform corneal ulceration
6	HP:0003231	Hypertyrosinemia
7	HP:0001249	Intellectual disability

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_000353.2(TAT):c.1249C>T (p.Arg417Ter)	-1	-	Pathogenic	118203916	RCV000000431;	N	MedGen:C0268487,OMIM:276600	16	71602163	71602163	NM_000353.2:c.1249C>T	NP_000344.1:p.Arg417Ter	NC_000016.9:g.71602163G>A	OMIM Allelic Variant:613018.0003	C0268487 276600 Tyrosinemia type 2
NM_000353.2(TAT):c.1085G>T (p.Gly362Val)	-1	-	Pathogenic	587776511	RCV000000432;	N	MedGen:C0268487,OMIM:276600	16	71603797	71603797	NM_000353.2:c.1085G>T	NP_000344.1:p.Gly362Val	16:g.71603797C>A	OMIM Allelic Variant:613018.0004	C0268487 276600 Tyrosinemia type 2
NM_000353.2(TAT):c.668C>G (p.Ser223Ter)	-1	-	Pathogenic	118203915	RCV000000430;	N	MedGen:C0268487,OMIM:276600	16	71606127	71606127	NM_000353.2:c.668C>G	NP_000344.1:p.Ser223Ter	NC_000016.9:g.71606127G>C	OMIM Allelic Variant:613018.0002	C0268487 276600 Tyrosinemia type 2
NM_000353.2(TAT):c.236-5A>G	6898	TAT	Pathogenic	587776512	RCV000000433;	N	MedGen:C0268487,OMIM:276600	16	71609934	71609934	NM_000353.2:c.236-5A>G		16:g.71609934T>C	OMIM Allelic Variant:613018.0005	C0268487 276600 Tyrosinemia type 2
NM_000353.2(TAT):c.169C>T (p.Arg57Ter)	6898	TAT	Pathogenic	118203914	RCV000000429;	N	MedGen:C0268487,OMIM:276600	16	71610150	71610150	NM_000353.2:c.169C>T	NP_000344.1:p.Arg57Ter	NC_000016.9:g.71610150G>A	OMIM Allelic Variant:613018.0001	C0268487 276600 Tyrosinemia type 2