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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

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

Disease Browser
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Muscle Hypotonia (D009123)
Parent Node: Psychomotor Disorders (D011596)
..Starting node ..Fumaric aciduria (C538191)
Child Nodes:
Sister Nodes:
..Apraxias (D001072) 10
..Bowen-Conradi syndrome (C537081)
..C SYNDROME (OMIM:211750)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..De Hauwere Leroy Adriaenssens syndrome (C535991)
..Developmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..Diaminopentanuria (C565630)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Edinburgh Malformation Syndrome (C563051)
..Fumaric aciduria (C538191)
..Genitopatellar Syndrome (C565255)
..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..Hypomyelination, Global Cerebral (C567847)
..Ichthyosis prematurity syndrome (C536271)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..MacDermot Winter syndrome (C537714)
..Megarbane syndrome (C536145)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..Psychomotor Agitation (D011595) 1
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4455

Name:

Fumaric aciduria

Definition:

Alternative IDs:

OMIM:606812

ParentIDs:

MESH:D008661|MESH:D009123|MESH:D011596

TreeNumbers:

C10.597.606.881/C538191 |C10.597.613.575/C538191 |C16.320.565/C538191 |C18.452.648/C538191 |C23.888.592.604.882/C538191 |C23.888.592.608.575/C538191

Synonyms:

Fumarase deficiency |Fumarate Hydratase Deficiency |Fumaricaciduria |FUMARIC ACIDURIA

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C538191
MeSH: C538191
OMIM: 606812;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0003355	Aminoaciduria
4	HP:0000463	Anteverted nares
5	HP:0002059	Cerebral atrophy
6	HP:0001396	Cholestasis
7	HP:0002190	Choroid plexus cyst
8	HP:0007620	Cutaneous leiomyoma
9	HP:0005280	Depressed nasal bridge
10	HP:0001508	Failure to thrive
11	HP:0002007	Frontal bossing
12	HP:0001290	Generalized hypotonia
13	HP:0001263	Global developmental delay
14	HP:0001399	Hepatic failure
15	HP:0000218	High palate
16	HP:0000316	Hypertelorism
17	HP:0002365	Hypoplasia of the brainstem
18	HP:0001252	Hypotonia
19	HP:0002187	Intellectual disability, profound
20	HP:0003128	Lactic acidosis
21	HP:0001942	Metabolic acidosis
22	HP:0000252	Microcephaly
23	HP:0002167	Neurological speech impairment
24	HP:0100954	Open operculum
25	HP:0000648	Optic atrophy
26	HP:0000980	Pallor
27	HP:0001901	Polycythemia
28	HP:0002126	Polymicrogyria
29	HP:0003758	Reduced subcutaneous adipose tissue
30	HP:0004482	Relative macrocephaly
31	HP:0002133	Status epilepticus
32	HP:0000505	Visual impairment

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_000143.3(FH):c.1431_1433dupAAA (p.Lys477_Asn478insLys)	2271	FH	Likely pathogenic;Pathogenic;Uncertain significance	367543046	RCV000034921; RCV000034483; RCV000164180;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0342770,OMIM:606812,ORPHA:24,SNOMED CT:237983002; MedGen:CN221809	1	241661228	241661230	NM_000143.3:c.1431_1433dupAAA	NP_000134.2:p.Lys477_Asn478insLys	NC_000001.10:g.241661227_241661228insTTT,NC_000001.10:g.241661228_241661230dupTT	-	C0342770 606812 Fumarase deficiency; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000143.3(FH):c.1127A>C (p.Gln376Pro)	2271	FH	Likely benign;Pathogenic;Uncertain significance	200796606	RCV000034920; RCV000199873; RCV000163798;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0342770,OMIM:606812,ORPHA:24,SNOMED CT:237983002; MedGen:CN221809	1	241665852	241665852	NM_000143.3:c.1127A>C	NP_000134.2:p.Gln376Pro	NC_000001.10:g.241665852T>G	-	C0342770 606812 Fumarase deficiency; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000143.3(FH):c.1084G>C (p.Glu362Gln)	2271	FH	Pathogenic	121913119	RCV000017618;	N	MedGen:C0342770,OMIM:606812,ORPHA:24,SNOMED CT:237983002	1	241667366	241667366	NM_000143.3:c.1084G>C	NP_000134.2:p.Glu362Gln	NC_000001.10:g.241667366C>G	OMIM Allelic Variant:136850.0002	C0342770 606812 Fumarase deficiency
NM_000143.3(FH):c.793G>A (p.Ala265Thr)	2271	FH	Pathogenic	387906545	RCV000017617;	N	MedGen:C0342770,OMIM:606812,ORPHA:24,SNOMED CT:237983002	1	241669414	241669414	NM_000143.3:c.793G>A	NP_000134.2:p.Ala265Thr	NC_000001.10:g.241669414C>T	OMIM Allelic Variant:136850.0001	C0342770 606812 Fumarase deficiency
NM_000143.3(FH):c.698G>A (p.Arg233His)	2271	FH	Pathogenic	121913123	RCV000178717; RCV000017623; RCV000196988;	N	MedGen:C0342770,OMIM:606812,ORPHA:24,SNOMED CT:237983002; MedGen:C1708350,OMIM:150800,OMIM:605839; MedGen:CN221809	1	241671943	241671943	NM_000143.3:c.698G>A	NP_000134.2:p.Arg233His	NC_000001.10:g.241671943C>A,NC_000001.10:g.241671943C>T	OMIM Allelic Variant:136850.0007	C0342770 606812 Fumarase deficiency; C1708350 150800 Hereditary leiomyomatosis and renal cell cancer; C1708350 605839 Hereditary leiomyomatosis and renal cell cancer; CN221809 not provided
NM_000143.3(FH):c.521C>G (p.Pro174Arg)	2271	FH	Likely benign;Pathogenic	199822819	RCV000022554; RCV000078149;	N	MedGen:C0342770,OMIM:606812,ORPHA:24,SNOMED CT:237983002; MedGen:CN221809	1	241675301	241675301	NM_000143.3:c.521C>G	NP_000134.2:p.Pro174Arg	NC_000001.10:g.241675301G>C	HGMD:CM030850,OMIM Allelic Variant:136850.0010	C0342770 606812 Fumarase deficiency; CN221809 not provided
NM_000143.3(FH):c.7C>G (p.Arg3Gly)	2271	FH	Uncertain significance	202166344	RCV000204400; RCV000195609;	N	MedGen:C0342770,OMIM:606812,ORPHA:24,SNOMED CT:237983002; MedGen:CN169374	1	241683016	241683016	NM_000143.3:c.7C>G	NP_000134.2:p.Arg3Gly	NC_000001.10:g.241683016G>A,NC_000001.10:g.241683016G>C	-	C0342770 606812 Fumarase deficiency; CN169374 not specified