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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: Dystonia (D004421)
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Psychomotor Disorders (D011596)
..Starting node ..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
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:

3565

Name:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

Definition:

Alternative IDs:

OMIM:612716

ParentIDs:

MESH:D004421|MESH:D008661|MESH:D011596

TreeNumbers:

C10.597.350.300/C562657 |C10.597.606.881/C562657 |C16.320.565/C562657 |C18.452.648/C562657 |C23.888.592.350.300/C562657 |C23.888.592.604.882/C562657

Synonyms:

Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |Sepiapterin Reductase Deficiency |Spr Deficiency

Slim Mappings:

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

Reference:

MedGen: C562657
MeSH: C562657
OMIM: 612716;

Genes: SPR;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0003593	Infantile onset
4	HP:0000718	Aggressive behavior
5	HP:0001251	Ataxia
6	HP:0001266	Choreoathetosis
7	HP:0001260	Dysarthria
8	HP:0001332	Dystonia
9	HP:0001263	Global developmental delay
10	HP:0001510	Growth delay
11	HP:0000752	Hyperactivity
12	HP:0001249	Intellectual disability
13	HP:0000252	Microcephaly
14	HP:0008936	Muscular hypotonia of the trunk
15	HP:0000657	Oculomotor apraxia
16	HP:0001250	Seizure
17	HP:0002360	Sleep disturbance
18	HP:0001257	Spasticity
19	HP:0008297	Transient hyperphenylalaninemia
20	HP:0001337	Tremor
21	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_003124.4(SPR):c.106G>A (p.Val36Met)	6697	SPR	Pathogenic	869312688	RCV000209884;	N	MedGen:C0268468,OMIM:612716,ORPHA:70594,SNOMED CT:45116002	2	73114667	73114667	NM_003124.4:c.106G>A	NP_003115.1:p.Val36Met	NC_000002.11:g.73114667G>A	-	C0268468 612716 Sepiapterin reductase deficiency
NM_003124.4(SPR):c.304G>T (p.Gly102Cys)	6697	SPR	Pathogenic	387907200	RCV000024605;	N	MedGen:C0268468,OMIM:612716,ORPHA:70594,SNOMED CT:45116002	2	73114865	73114865	NM_003124.4:c.304G>T	NP_003115.1:p.Gly102Cys	NC_000002.11:g.73114865G>T	OMIM Allelic Variant:182125.0007	C0268468 612716 Sepiapterin reductase deficiency
NM_003124.4(SPR):c.355C>T (p.Gln119Ter)	6697	SPR	Pathogenic	121917746	RCV000013802;	N	MedGen:C0268468,OMIM:612716,ORPHA:70594,SNOMED CT:45116002	2	73115493	73115493	NM_003124.4:c.355C>T	NP_003115.1:p.Gln119Ter	NC_000002.11:g.73115493C>T	OMIM Allelic Variant:182125.0001	C0268468 612716 Sepiapterin reductase deficiency
NM_003124.4(SPR):c.448_452delAGAAC (p.Thr151Glyfs)	6697	SPR	Pathogenic	587776777	RCV000013803;	N	MedGen:C0268468,OMIM:612716,ORPHA:70594,SNOMED CT:45116002	2	73115586	73115590	NM_003124.4:c.448_452delAGAAC	NP_003115.1:p.Thr151Glyfs		OMIM Allelic Variant:182125.0002	C0268468 612716 Sepiapterin reductase deficiency
NM_003124.4(SPR):c.448A>G (p.Arg150Gly)	6697	SPR	Pathogenic	104893665	RCV000013804;	N	MedGen:C0268468,OMIM:612716,ORPHA:70594,SNOMED CT:45116002	2	73115586	73115586	NM_003124.4:c.448A>G	NP_003115.1:p.Arg150Gly	NC_000002.11:g.73115586A>G	OMIM Allelic Variant:182125.0003	C0268468 612716 Sepiapterin reductase deficiency
NM_003124.4(SPR):c.488C>T (p.Pro163Leu)	6697	SPR	Pathogenic	104893666	RCV000013806;	N	MedGen:C0268468,OMIM:612716,ORPHA:70594,SNOMED CT:45116002	2	73115626	73115626	NM_003124.4:c.488C>T	NP_003115.1:p.Pro163Leu	NC_000002.11:g.73115626C>T	OMIM Allelic Variant:182125.0005	C0268468 612716 Sepiapterin reductase deficiency
NM_003124.4(SPR):c.596-2A>G	6697	SPR	Pathogenic	398122922	RCV000033096;	N	MedGen:C0268468,OMIM:612716,ORPHA:70594,SNOMED CT:45116002	2	73118474	73118474	NM_003124.4:c.596-2A>G		NC_000002.11:g.73118474A>G	OMIM Allelic Variant:182125.0008	C0268468 612716 Sepiapterin reductase deficiency
NM_003124.4(SPR):c.751A>T (p.Lys251Ter)	6697	SPR	Pathogenic	121917747	RCV000013807;	N	MedGen:C0268468,OMIM:612716,ORPHA:70594,SNOMED CT:45116002	2	73118631	73118631	NM_003124.4:c.751A>T	NP_003115.1:p.Lys251Ter	NC_000002.11:g.73118631A>T	OMIM Allelic Variant:182125.0006	C0268468 612716 Sepiapterin reductase deficiency