Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DRDSPRD MCID: DYS161 MIFTS: 56	Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency (DRDSPRD) Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

Sources

Aliases & Classifications for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

MalaCards integrated aliases for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

Name: Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency ⁵⁶ ⁷³ ¹³ ⁴³ ⁷¹

Sepiapterin Reductase Deficiency ⁵⁶ ¹² ²⁴ ⁵² ²⁵ ⁵⁸ ⁷³ ¹⁵ ³⁹

Spr Deficiency ⁵⁶ ¹² ²⁴ ⁵² ²⁵ ⁵⁸ ⁷³

Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency ¹² ⁵² ²⁵ ⁵⁸ ²⁹ ⁶

Psychomotor Disorders ⁴³ ⁷¹

Drd Due to Srd ¹² ⁵⁸

Srd ⁵⁶ ¹²

Motor and Cognitive Disorder Due to Sepiapterin Reductase Deficiency ⁷³

Autosomal Recessive Sepiapterin Reductase-Deficient Drd ⁵⁸

Sepiapterin Reductase Deficiency; Srd ⁵⁶

Dopa-Responsive Hypersomnia ²⁴

Sr-Deficient Drd ⁵²

Dyt/park-Spr ⁵²

Dyt-Spr ²⁴

Drdsprd ⁷³

Spr ⁷⁴

Characteristics:

Orphanet epidemiological data:

⁵⁸

dopa-responsive dystonia due to sepiapterin reductase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

⁵⁶

Inheritance:
autosomal recessive
?autosomal dominant

Miscellaneous:
onset in infancy
variable severity
defect in tetrahydrobiopterin (bh4) synthesis
later onset has been reported
treatment with bh4 is effective
neurotransmitter treatment with l-dopa and serotonin or precursors is effective
early treatment can reduce neurologic symptoms
symptoms benefit from sleep
marked favorable response to l-dopa treatment
a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient

HPO:

³¹

dystonia, dopa-responsive, due to sepiapterin reductase deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Extrapyramidal and movement disorders

Dystonia

Idiopathic familial dystonia

Orphanet: ⁵⁸

Rare neurological diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0111168

OMIM ⁵⁶ 612716

MeSH ⁴³ C562657 D004421 D011596

SNOMED-CT ⁶⁷ 45116002

ICD10 via Orphanet ³³ G24.1

UMLS via Orphanet ⁷² C0268468

Orphanet ⁵⁸ ORPHA70594

MedGen ⁴¹ C0268468

UMLS ⁷¹ C0033922 C0268468

Sources

Summaries for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Genetics Home Reference : ²⁵ Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. Other movement problems can include muscle stiffness (spasticity), tremors, problems with coordination and balance (ataxia), and involuntary jerking movements (chorea). People with sepiapterin reductase deficiency can experience episodes called oculogyric crises. These episodes involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck. Movement abnormalities are often worse late in the day. Most affected individuals have delayed development of motor skills such as sitting and crawling, and they typically are not able to walk unassisted. The problems with movement tend to worsen over time. People with sepiapterin reductase deficiency may have additional signs and symptoms including an unusually small head size (microcephaly), intellectual disability, seizures, excessive sleeping, and mood swings.

MalaCards based summary : Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency, also known as sepiapterin reductase deficiency, is related to dystonia, dopa-responsive and hyperphenylalaninemia, bh4-deficient, a, and has symptoms including seizures, ataxia and tremor. An important gene associated with Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency is SPR (Sepiapterin Reductase), and among its related pathways/superpathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drugs Alprazolam and Promethazine have been mentioned in the context of this disorder. Affiliated tissues include testes, thyroid and brain, and related phenotypes are intellectual disability and delayed speech and language development

Disease Ontology : ¹² A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has material basis in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.

NIH Rare Diseases : ⁵² Sepiapterin reductase deficiency is a neurometabolic disorder characterized by a pattern of involuntary sustained muscle contractions known as dystonia . Other common features include axial hypotonia , oculogyric crises , and delays in motor and cognitive development. The condition is caused by mutations in the SPR gene . It is inherited in an autosomal recessive fashion. Treatment with levodopa (L-dopa) in combination with carbidopa has shown much success causing drastic improvements in motor functioning.

OMIM : ⁵⁶ SPR deficiency results in neurologic deterioration due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Clinically, affected individuals show an L-DOPA-responsive, diurnally fluctuating movement disorder usually associated with cognitive delay and severe neurologic dysfunction. BH4 is a required cofactor for the synthesis of the neurotransmitters dopamine and serotonin. BH4 is also a required cofactor for phenylalanine hydroxylase (PAH; 612349), but patients with SPR deficiency do not exhibit overt hyperphenylalaninemia. The lack of hyperphenylalaninemia distinguishes SPR deficiency from other disorders of BH4 synthesis (see, e.g., HPABH4A, 261640). However, the neurologic phenotype of SPR deficiency resembles the other BH4-deficient disorders (summary by Bonafe et al., 2001 and Friedman et al., 2012). Another form of dopa-responsive dystonia (DTY5; 128230) is caused by mutation in the gene encoding GTP cyclohydrolase I (GCH1; 600225), which is also a component of the biopterin synthetic pathway. (612716)

UniProtKB/Swiss-Prot : ⁷³ Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency: A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.

GeneReviews: NBK304122

Sources

Related Diseases for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Diseases related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 143)

#	Related Disease	Score	Top Affiliating Genes
1	dystonia, dopa-responsive	34.0	SPR GCH1
2	hyperphenylalaninemia, bh4-deficient, a	32.7	SPR QDPR PCBD1 GCH1
3	hemidystonia	32.2	SPR GCH1
4	multifocal dystonia	32.1	SPR GCH1
5	pyridoxamine 5-prime-phosphate oxidase deficiency	32.0	SPR QDPR
6	tetrahydrobiopterin deficiency	31.7	SPR QDPR PCBD1 GCH1
7	oculogyric crisis	30.7	SPR GCH1
8	dystonia	30.5	SPR QDPR PCBD1 MCEE GCH1
9	hyperphenylalaninemia	30.4	SPR QDPR PCBD1 GCH1
10	phenylketonuria	30.4	QDPR PRODH PCBD1 GCH1
11	cervical dystonia	11.3
12	hypotonia	10.6
13	segawa syndrome, autosomal recessive	10.5
14	retinal detachment	10.4
15	gtp cyclohydrolase 1-deficient dopa-responsive dystonia	10.3
16	hyperphenylalaninemia, bh4-deficient, b	10.3	QDPR GCH1
17	prion disease	10.3
18	alacrima, achalasia, and mental retardation syndrome	10.3
19	autosomal recessive disease	10.3
20	cerebral palsy	10.3
21	movement disease	10.3
22	spasticity	10.3
23	tremor	10.3
24	dysphasia, familial developmental	10.2
25	specific language impairment	10.2
26	rabies	10.2
27	mild hyperphenylalaninemia	10.2	QDPR PCBD1
28	autoimmune disease	10.2
29	kala-azar 1	10.1
30	avian influenza	10.1
31	leishmaniasis	10.1
32	visceral leishmaniasis	10.1
33	parkinson disease, late-onset	10.1
34	methylmalonyl-coa epimerase deficiency	10.1
35	adrenoleukodystrophy	10.1
36	parkinson disease 3, autosomal dominant	10.1
37	chorea, childhood-onset, with psychomotor retardation	10.1
38	quadriplegia	10.1
39	choreatic disease	10.1
40	hypothyroidism	10.1
41	methylmalonic acidemia	10.1
42	adrenomyeloneuropathy	10.1
43	dwarfism	10.1
44	growth hormone deficiency	10.1
45	autonomic dysfunction	10.1
46	encephalopathy	10.1
47	hypersomnia	10.1
48	hypertonia	10.1
49	vitiligo-associated multiple autoimmune disease susceptibility 1	10.1	QDPR PCBD1 GCH1
50	vitreoretinopathy, neovascular inflammatory	10.1

Graphical network of the top 20 diseases related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

Sources

Symptoms & Phenotypes for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Human phenotypes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

⁵⁸ ³¹ (show all 36)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001249
2	delayed speech and language development ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000750
3	sleep disturbance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002360
4	cognitive impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100543
5	muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001324
6	hyperhidrosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000975
7	tremor ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001337
8	hyperreflexia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001347
9	ptosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000508
10	motor delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001270
11	abnormality of the nose ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000366
12	rigidity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002063
13	muscular hypotonia of the trunk ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008936
14	drowsiness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002329
15	bradykinesia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002067
16	limb hypertonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002509
17	temperature instability ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005968
18	hypomimic face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000338
19	oculogyric crisis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010553
20	microcephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000252
21	growth delay ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001510
22	cerebral palsy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100021
23	small for gestational age ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001518
24	seizure ³¹	occasional (7.5%)		HP:0001250
25	dystonia ⁵⁸ ³¹		Frequent (79-30%)	HP:0001332
26	global developmental delay ³¹			HP:0001263
27	behavioral abnormality ⁵⁸		Frequent (79-30%)
28	seizures ⁵⁸		Occasional (29-5%)
29	spasticity ³¹			HP:0001257
30	ataxia ³¹			HP:0001251
31	dysarthria ³¹			HP:0001260
32	choreoathetosis ³¹			HP:0001266
33	oculomotor apraxia ³¹			HP:0000657
34	aggressive behavior ³¹			HP:0000718
35	hyperactivity ³¹			HP:0000752
36	transient hyperphenylalaninemia ³¹			HP:0008297

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
seizures
spasticity
ataxia
tremor
dysarthria
more

Head And Neck Eyes:
oculomotor apraxia
oculogyric crises

Growth Other:
growth retardation

Head And Neck Head:
microcephaly

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity

Laboratory Abnormalities:
decreased homovanillic acid (hva) in csf
transient hyperphenylalaninemia occurs on oral loading test with phenylalanine
sepiapterin reductase deficiency (fibroblasts)
decreased 5-hydroxyindoleacetic acid (5-hiaa) in csf
elevated sepiapterin in csf
more

Clinical features from OMIM:

612716

UMLS symptoms related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

seizures, ataxia, tremor, dystonia, lethargy, sleep disturbances, muscle spasticity, neurobehavioral manifestations, psychomotor skills impaired, hypersomnolence

GenomeRNAi Phenotypes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

²⁶ (show all 13)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-1	9.47	QDPR
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-116	9.47	U2AF1
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-117	9.47	QDPR
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-136	9.47	PRODH QDPR
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-139	9.47	PRODH
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-192	9.47	PRODH
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-198	9.47	PRODH
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-200	9.47	PRODH
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-4	9.47	PRODH
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-5	9.47	PRODH
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-55	9.47	PRODH
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-63	9.47	QDPR
13	Decreased shRNA abundance (Z-score < -2)	GR00366-A-86	9.47	PRODH

MGI Mouse Phenotypes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.47	CASZ1 CHD5 GCH1 INSIG1 INSIG2 MBTPS1

Sources

Drugs & Therapeutics for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Drugs for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Alprazolam

Approved, Illicit, Investigational

Phase 4

28981-97-7

2118

Synonyms:

28981-97-7

611026_ALDRICH

611026_FLUKA

8-Chloro-1-methyl-6-(phenyl-d5)-4H-(1,2,4)triazolo[4,3-a][1,4]benzodiazepine

8-Chloro-1-methyl-6-phenyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepine

8-chloro-1-Methyl-6-phenyl-4H-S-triazolo(4,3-a)(1,4)benzodiazepine

8-Chloro-1-methyl-6-phenyl-4H-s-triazolo(4,3-a)(1,4)benzodiazepine

8-Chloro-1-methyl-6-phenyl-4H-s-triazolo(4,3-alpha)(1,4)benzodiazepine

8-Chloro-1-methyl-6-phenyl-4H-s-triazolo[4,3-a][1,4]benzodiazepine

A6551_FLUKA

A6551_SIGMA

A8800_SIGMA

AC-18721

AC1L1CYL

AKOS005066050

Alcelam

Algad

Alpaz

Alphapharm brand OF alprazolam

Alphapharm Brand of Alprazolam

Alplax

Alpram

Alprax

alprazolam

Alprazolam

Alprazolam (JP15/USP/INN)

Alprazolam [USAN:INN:BAN:JAN]

Alprazolam alphapharm brand

Alprazolam Alphapharm Brand

Alprazolam apotex brand

Alprazolam Apotex Brand

Alprazolam extended release tablets

Alprazolam intensol

Alprazolam kenral brand

Alprazolam Kenral Brand

Alprazolam novopharm brand

Alprazolam Novopharm Brand

Alprazolam nu-pharm brand

Alprazolam Nu-Pharm Brand

Alprazolam orion brand

Alprazolam Orion Brand

Alprazolam pfizer brand

Alprazolam Pfizer Brand

Alprazolam solution

Alprazolam temmler brand

Alprazolam Temmler Brand

Alprazolam-d5

Alprazolamum

Alprazolamum [INN-Latin]

Alprazolan

Alpronax

Alprox

Alviz

Alzam

Alzolam

Alzon

Anpress

AP-1002

apo Alpraz

Apo Alpraz

apo-Alpraz

ApoAlpraz

Apo-Alpraz

Apotex brand OF alprazolam

Apotex Brand of Alprazolam

Arzneimittelwerk dresden brand OF alprazolam

Arzneimittelwerk Dresden Brand of Alprazolam

AZ-002

Azor

Bestrol

BIDD:GT0475

BIDD:PXR0150

Bio-0790

BRN 1223125

C06817

Cassadan

CHEBI:2611

CHEMBL661

CID2118

Constan

CPD000149316

D 65MT

D000525

D00225

D65MT

D-65MT

DB00404

DEA No. 2882

EINECS 249-349-2

Esparon

Frontal

Gen-Alprazolan

Helex

HMS2051A10

HSDB 7207

I14-7472

Intensol

Kalma

Kenral brand OF alprazolam

Kenral Brand of Alprazolam

Ksalol

LS-156344

Mialin

MLS000559000

MLS000759485

MolPort-002-507-836

NCGC00159466-02

NCGC00159466-03

nchembio747-comp35

Neurol

Niravam

novo Alprazol

Novo Alprazol

novo-Alprazol

NovoAlprazol

Novo-Alprazol

Novopharm brand OF alprazolam

Novopharm Brand of Alprazolam

Nu alpraz

Nu Alpraz

Nu pharm brand OF alprazolam

Nu Pharm Brand of Alprazolam

Nu-alpraz

NuAlpraz

Nu-Alpraz

Nu-pharm brand OF alprazolam

Nu-Pharm Brand of Alprazolam

Orion brand OF alprazolam

Orion Brand of Alprazolam

Panistat

Panix

Pfizer brand OF alprazolam

Pfizer Brand of Alprazolam

Pharnax

Prazam

Prazolan

Prinox

Ralozam

Relaxol

Restyl

SAM001246696

SMR000149316

Solanax

Staccato-alprazolam

STK590494

Tafil

Tafil D

Temmler brand OF alprazolam

Temmler Brand of Alprazolam

Tensivan

TGAR01P

Tranax

Trankimazin

Tranquinal

Tricalma

Tus 1

TUS-1

U 31889

U31,889

U-31,889

U-31889

UNII-YU55MQ3IZY

Unilan

Valeans

Xanagis

Xanax

Xanax (TN)

Xanax TS

Xanax XR

Xanolam

Xanor

Zacetin

Zanapam

Zaxan

Zenax

ZINC00000903

Zolam

Zolan

Zolarem

Zoldac

Zoldax

Zopax

Zopic

Zotran

Promethazine

Approved, Investigational

Phase 4

60-87-7

4927

Synonyms:

(2-dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine

(2-dimethylamino-2-Methyl)ethyl-N-dibenzoparathiazine

(2-Dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine

(Dimethylamino-2-propyl-10-phenothiazine hydrochloride

10-(2-(Dimethylamino)-2-methylethyl)phenothiazine

10-(2-(Dimethylamino)propyl)phenothiazine

10-(2-Dimethylaminopropyl)phenothiazine

10-[2-(dimethylamino)propyl]phenothiazine

10-[2-(dimethylamino)Propyl]phenothiazine

10-[2-(Dimethylamino)propyl]phenothiazine

10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl- (9CI)

10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl-, radical ion(1+)

3277 RP

3389 R.p.

38878-40-9

4182 R.p.

4-27-00-01253 (Beilstein Handbook Reference)

60-87-7

73745-50-3

A-91033

AB00053535

AC-15939

AC1L1J92

Antiallersin

Aprobit

Atosil

Avomine

BPBio1_000744

BRN 0088554

BSPBio_000676

BSPBio_002777

C07404

Camergan

CCRIS 7056

CHEBI:8461

CHEMBL643

CID4927

D00494

DB01069

Dimapp

Dimethylamino-isopropyl-phenthiazin

Dimethylamino-isopropyl-phenthiazin [German]

Diphergan

Diprazin

Diprazine

Diprozin

DivK1c_000005

EINECS 200-489-2

Fargan

Fenazil

Fenetazina

Fenetazine

Genphen

Hiberna

Histargan

HMS2089E08

HSDB 3173

Hydrochloride, promethazine

IDI1_000005

Iergigan

InChI=1/C17H20N2S/c1-13(18(2)3)12-19-14-8-4-6-10-16(14)20-17-11-7-5-9-15(17)19/h4-11,13H,12H2,1-3H3

Isophenergan

Isopromethazine

KBio1_000005

KBio2_001348

KBio2_003916

KBio2_006484

KBio3_001997

KBioGR_001697

KBioSS_001348

L000495

Lercigan

Lergigan

Lilly 01516

Lilly 1516

Lopac0_000899

LS-264

Metaryl

MolPort-001-783-684

N-(2'-dimethylamino-2'-methyl)ethylphenothiazine

N-(2'-dimethylamino-2'-Methyl)ethylphenothiazine

N-(2'-Dimethylamino-2'-methyl)ethylphenothiazine

N,N,alpha-trimethyl-10H-phenothiazine-10-ethanamine

N,N,alpha-Trimethyl-10H-phenothiazine-10-ethanamine

N,N,a-Trimethyl-10H-phenothiazine-10-ethanamine

N,N,α-trimethyl-10H-phenothiazine-10-ethanamine

N,N-dimethyl-1-(10H-phenothiazin-10-yl)propan-2-amine

N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine

N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine hydrochloride

NCGC00015817-10

NCGC00089735-02

NCGC00089735-03

NCI60_001878

NCI-C60673

N-Dimethylamino-2-methylethyl thiodiphenylamine

NINDS_000005

NSC 30321

NSC30321

Oprea1_758749

Pelpica

Phargan

Phenargan

Phenergan

Phenerzine

Phenoject-50

Phensedyl

Pilothia

Pilpophen

Pipolfen

Pipolphen

Pipolphene

Prestwick0_000888

Prestwick1_000888

Prestwick2_000888

Prestwick3_000888

Pro-50

Proazaimine

Proazamine

Procit

Promacot

Promazinamide

Promergan

Promesan

Promet

Prometasin

Prometazin

Prometazina

Prometazina [INN-Spanish]

Prometazine

Prometh

Promethacon

Promethaine

Promethazin

promethazine

Promethazine

Promethazine (JAN/INN)

PROMETHAZINE (SEE ALSO PROMETHAZINE HYDROCHLORIDE 58-33-3)

Promethazine [INN:BAN]

Promethazine hydrochloride

PromethazineHcl

Promethazinum

Promethazinum [INN-Latin]

Promethegan

Promethiazine

Promezathine

Prorex

Protazine

Prothazin

Prothazine

Provigan

Pyrethia

Pyrethiazine

Remsed

Romergan

RP 3277

Rumergan

SKF 1498

SPBio_000799

SPBio_002895

Spectrum_000868

Spectrum2_000840

Spectrum3_001019

Spectrum4_001149

Spectrum5_000977

Tanidil

Thiergan

UNII-FF28EJQ494

Valergine

Vallergine

WLN: T C666 BN ISJ B1Y1&N1&1

WY 509

Zipan-25

Diphenhydramine

Approved, Investigational

Phase 4

58-73-1, 147-24-0

3100

Synonyms:

147-24-0

147-24-0 (HYDROCHLORIDE)

2-(benzhydryloxy)-N,N-dimethylethylamine

2-(Benzhydryloxy)-N,N-dimethylethylamine

2-(Benzhydryloxy)-N,N-dimethylethylamine, hydrochloride

2-(diphenylmethoxy)-N,N-dimethylethanamine

2-(Diphenylmethoxy)-N,N-dimethylethylamine

2-[(diphenylmethyl)oxy]-N,N-dimethylethanamine

2-benzhydryloxyethyl-N,N-dimethylammonium

2-benzhydryloxy-N,N-dimethylethanamine

2-diphenylmethoxy-N,N-demthylethanamine

2-Diphenylmethoxy-N,N-demthylethanamine

2-Diphenylmethoxy-N,N-dimethylethylamine

2PM

58-73-1

88637-37-0 (citrate (1:1))

a-(2-Dimethylaminoethoxy)diphenylmethane

AB00053460

AC-13704

AC1L1F65

AKOS003658554

Aleryl

Alledryl

Allerdryl

Allergan

Allergan B

Allergeval

Allergical

Allergina

Allergival

Allermax Caplets

Aller-Med

alpha-(2-Dimethylaminoethoxy)diphenylmethane

Amidryl

Antistominum

Antitussive

Antomin

Automin

Bagodryl

Banophen

Banophen Caplets

Baramine

b-Dimethylaminoethanol diphenylmethyl ether

b-Dimethylaminoethyl benzhydryl ether

Beldin

Belix

Bena

Benachlor

Benadrin

Benadryl

Benadryl (hydrochloride)

Benadryl Allergy

BENADRYL HCl

Ben-allergin

Benapon

Bendylate

Benhydramin

Benodin

Benodine

Benylan

Benylin

Benzantin

Benzantine

Benzhydramine

Benzhydraminum

Benzhydril

Benzhydroamina

Benzhydryl

beta-Dimethylamino-aethyl-benzhydryl-aether

beta-Dimethylamino-aethyl-benzhydryl-aether [German]

beta-Dimethylaminoethanol diphenylmethyl ether

beta-dimethylaminoethyl benzhydryl ether

beta-Dimethylaminoethyl benzhydryl ether

beta-Dimethylaminoethylbenzhydrylether

Betramin

BIDD:GT0152

BPBio1_000275

BRD-K47278471-003-05-7

BRN 1914136

BSPBio_000249

BSPBio_002219

CAS-147-24-0

CCRIS 1959

CHEBI:127629

CHEBI:4636

CHEMBL657

CID3100

Citrate, diphenhydramine

Compoz

CPD-10890

D00300

Dabylen

DB01075

DB06975

Debendrin

Dermistina

Dermodrin

Desentol

Diabenyl

Diabylen

Dibendrin

Dibenil

Dibondrin

Difedryl

Difenhidramina

Difenhidramina [INN-Spanish]

Difenhydramin

Difenhydramine

Difenidramina

Difenidramina [Italian]

Dihidral

Dimedrol

Dimedrol base

Dimedrolum

Dimedryl

Dimehydrinate

Dimethylamine benzhydryl ester

Diphamine

Diphantine

Diphen

Diphen Cough

Diphenhist

Diphenhist Captabs

diphenhydramine

Diphenhydramine

Diphenhydramine (JP15/INN)

Diphenhydramine [INN:BAN:JAN]

Diphenhydramine Base

Diphenhydramine citrate

Diphenhydramine citrate (1:1)

Diphenhydramine HCl

Diphenhydramine hydrochloride

DIPHENHYDRAMINE, ANTISTOMINUM, BENZHYDRAMINE

Diphenhydraminum

Diphenhydraminum [INN-Latin]

Diphenylhydramin

Diphenylhydramine

DivK1c_000368

Dobacen

Dormarex 2

Dormin

Dryistan

Drylistan

Dylamon

EINECS 200-396-7

Etanautine

FAR 90X2

Genahist

Histaxin

HMS2089E06

HSDB 3066

Hyadrine

Hydramine

Hydrochloride, diphenhydramine

Hyrexin

I14-6749

Ibiodral

IDI1_000368

KBio1_000368

KBio2_001460

KBio2_004028

KBio2_006596

KBio3_001439

KBioGR_001099

KBioSS_001460

L000227

Lopac0_000377

Lopac-D-3630

LS-68208

Medidryl

Mephadryl

MLS002222276

MolPort-001-783-508

N-(2-(diphenylmethoxy)ethyl)-N,N-dimethylamine

N-(2-(Diphenylmethoxy)ethyl)-N,N-dimethylamine

N-(Benzhydryloksy-etylo)dwumetyloamina

N-(Benzhydryloksy-etylo)dwumetyloamina [Polish]

N,N-Dimethyl-2-(diphenylmethoxy)-ethylamine hydrochloride

N-[2-(BENZHYDRYLOXY)ETHYL]-N,N-DIMETHYLAMINE

Nausen

NCGC00015335-01

NCGC00015335-02

NCGC00015335-03

NCGC00015335-10

NCGC00024414-03

NCGC00024414-04

nchembio747-comp18

NCI60_002916

NCI60_022782

Nervine Nighttime Sleep-Aid

NINDS_000368

Novamina

NSC665800

Nytol Quickcaps

Nytol Quickgels

O-benzhydryldimethylaminoethanol

O-Benzhydryldimethylaminoethanol

Oprea1_254625

PM 255

Prestwick0_000065

Prestwick1_000065

Prestwick2_000065

Prestwick3_000065

Probedryl

Restamin

Restamin (TN)

Rigidil

S51

Siladryl

Silphen

Sleep-Eze D

Sleep-Eze D Extra Strength

SMR001307259

SPBio_000961

SPBio_002170

Spectrum_000980

Spectrum2_000961

Spectrum3_000400

Spectrum4_000520

Spectrum5_000915

STK103720

STOCK2S-94461

Syntedril

Syntodril

TL8003758

Twilite Caplets

UNII-8GTS82S83M

Unisom Sleepgels Maximum Strength

α-(2-dimethylaminoethoxy)diphenylmethane

β-dimethylaminoethanol diphenylmethyl ether

β-dimethylaminoethyl benzhydryl ether

Zolpidem

Approved

Phase 4

82626-48-0

5732

Synonyms:

2C19H21N3O

82626-48-0

AC1L1L0K

Ambien

Amsic

BIDD:GT0785

Bikalm

BRD-K44876623-001-01-1

BSPBio_002278

C07219

CHEBI:10125

CHEMBL911

CID5732

D08690

Dalparan

DB00425

DEA No. 2783

HMS1922F22

Hypnogen

I06-0128

Lorex

LS-187761

LS-80196

MolPort-003-666-656

Myslee

N,N,6-Trimethyl-2-(4-methylphenyl)imidazo(1,2-a)pyridine-3-acetamide

N,N,6-trimethyl-2-(4-methylphenyl)imidazo(1,2a)pyridine-3-acetamide hemitartrate

N,N,6-Trimethyl-2-(4-methylphenyl)imidazo(1,2a)pyridine-3-acetamide hemitartrate

N,N,6-Trimethyl-2-(4-methylphenyl)-imidazo[1,2-a]pyridine-3-acetamide

N,N,6-Trimethyl-2-p-tolylimidazo[1,2-a]pyridine-3-acetamide

N,N-Dimethyl-2-[6-methyl-2-(4-methylphenyl)imidazo[1,2-a]pyridin-3-yl]acetamide

NCGC00095179-01

NCGC00095179-02

NCGC00095179-03

NCGC00095179-04

Sanval

Sanval (TN)

SL 80.0750

SL-800750

SL-800750-23-N

SPECTRUM1505369

Stilnoct

Stilnox

STK627113

UNII-7K383OQI23

Z103_SIGMA

ZINC00003876

Zodormdura

Zoldem

Zolirin

zolpidem

Zolpidem

Zolpidem (INN)

Zolpidem [INN:BAN]

Zolpidem 1a pharma

Zolpidem abz

Zolpidem ambien

Zolpidem tartrate

Zolpidemum

Zolpidemum [Latin]

Zolpi-lich

Zolpimist

Zolpinox

Anti-Anxiety Agents

Phase 4

Psychotropic Drugs

Phase 4

GABA Agonists

Phase 4

Hypnotics and Sedatives

Phase 4

GABA Modulators

Phase 4

Neurotransmitter Agents

Phase 4

Olive

Phase 4

Fat Emulsions, Intravenous

Phase 4

Parenteral Nutrition Solutions

Phase 4

Soy Bean

Phase 4

Pharmaceutical Solutions

Phase 4

Soybean oil, phospholipid emulsion

Phase 4

Hematinics

Phase 2

Epoetin alfa

Phase 2

113427-24-0

Ethanol

Approved

64-17-5

702

Synonyms:

(C6-C9)Alkyl alcohol

[CH2Me(OH)]

[OEtH]

02483_FLUKA

02851_FLUKA

02853_FLUKA

02854_FLUKA

02855_FLUKA

02856_FLUKA

02856_SIAL

02857_FLUKA

02857_SIAL

02858_FLUKA

02858_SIAL

02860_FLUKA

02865_FLUKA

02865_SIAL

02870_FLUKA

02870_SIAL

02875_FLUKA

02877_FLUKA

02878_FLUKA

02882_FLUKA

02882_SIAL

02883_FLUKA

02884_FLUKA

02890_FLUKA

02890_SIAL

02891_FLUKA

02891_SIAL

100C.NPA

121182-78-3

187380_ALDRICH

187380_SIAL

1-Hydroxyethane

24102_RIEDEL

24102_SIAL

24103_RIEDEL

24103_SIAL

24105_RIEDEL

24105_SIAL

24106_RIEDEL

24106_SIAL

24194_RIEDEL

24194_SIAL

245119_ALDRICH

245119_SIAL

270741_ALDRICH

270741_SIAL

277649_ALDRICH

277649_SIAL

2858_SIGMA

29221_FLUKA

32205_RIEDEL

32205_SIAL

32221_RIEDEL

32221_SIAL

32294_RIEDEL

32294_SIAL

34870_SIAL

34963_RIEDEL

39278_FLUKA

40210_ALDRICH

40210_RIEDEL

41322_FLUKA

458600_ALDRICH

458600_SIAL

459828_ALDRICH

459828_SIAL

459836_ALDRICH

459836_SIAL

459844_SIAL

48075_SUPELCO

493511_SIAL

493538_ALDRICH

493538_SIAL

493546_ALDRICH

493546_SIAL

64-17-5

676829_SIAL

68475-56-9

71076-86-3

71329-38-9

8000-16-6

8024-45-1

absolute alcohol

Absolute alcohol

Absolute Alcohol

Absolute ethanol

Absolute Ethanol

Absolute ethyl alcohol

AC1L19TW

AC1Q31MM

Aethanol

Aethanol [German]

Aethylalkohol

AHD 2000

AI3-01706

Alcare hand degermer

Alcare Hand Degermer

alcohol

Alcohol

Alcohol (ethyl)

Alcohol (USP)

Alcohol [USP]

ALCOHOL 5% IN D5-W

Alcohol anhydrous

Alcohol Anhydrous

Alcohol dehydrated

Alcohol denatured

alcohol etilico

Alcohol etilico

Alcohol etílico

Alcohol, absolute

Alcohol, Absolute

Alcohol, anhydrous

Alcohol, dehydrated

Alcohol, Dehydrated

Alcohol, denatured

Alcohol, diluted

Alcohol, Diluted

Alcohol, ethyl

Alcohol, grain

Alcohol, Grain

Alcohols

Alcohols, C1-3

Alcohols, C30

Alcohols, C6-9

Alcool ethylique

Alcool Ethylique

Alcool éthylique

Alcool etilico

Alcool Etilico

Algrain

Alkohol

Alkohol [German]

Alkoholu etylowego

Alkoholu Etylowego

Aminoethanol

Anhydrol

Anhydrol PM 4085

Anhydrous alcohol

Anhydrous ethanol

Äthanol

Äthylalkohol

Beta-Aminoethanol

Beta-Aminoethyl Alcohol

Beta-Ethanolamine

Beta-Hydroxyethylamine

bmse000297

C00469

C2H5OH

C2H6O

Caswell No. 426

Caswell No. 430

CCRIS 945

CDA 19

CDA 19-200

CHEBI:16236

CHEMBL545

CID702

Colamine

Cologne spirit

Cologne Spirit

Cologne spirits

D000431

D00068

DB00898

Dehydrated alcohol

Dehydrated ethanol

Dehydrated Ethanol

Denatured alcohol

Denatured Alcohol

Denatured Alcohol Cd-10

Denatured Alcohol Cd-5

Denatured Alcohol Cd-5a

Denatured Alcohol Sd-1

Denatured Alcohol Sd-13a

Denatured Alcohol Sd-17

Denatured Alcohol Sd-23a

Denatured Alcohol Sd-28

Denatured Alcohol Sd-30

Denatured Alcohol Sd-39b

Denatured Alcohol Sd-39c

Denatured Alcohol Sd-3a

Denatured Alcohol Sd-40m

Denatured ethanol

Denatured Ethanol

Desinfektol el

Desinfektol EL

Diluted alcohol

Distilled spirits

E2385_SIGMA

E7023_ALDRICH

E7023_SIAL

E7148_ALDRICH

E7148_SIAL

E7517_SIGMA

EINECS 200-578-6

EINECS 270-649-4

Envision Conditioner Pdd 9020

EOH

EOX

Esumiru WK 88

ETA

etanol

Etanol

Etanolo

Etanolo [Italian]

ethanol

éthanol

Ethanol (9CI)

Ethanol [JAN]

Ethanol 200 proof

Ethanol 200 Proof

Ethanol Absolute

Ethanol Absolute Bp

Ethanol Anhydrous

Ethanol Extra Pure

Ethanol solution

Ethanol Vapor

Ethanol, Silent Spirit

Ethanol, undenatured

Ethanolum anhydricum

Ethicap

Ethyl alc

ethyl alcohol

Ethyl alcohol

Ethyl Alcohol

Ethyl Alcohol & Water, 10%

Ethyl Alcohol & Water, 20%

Ethyl Alcohol & Water, 30%

Ethyl Alcohol & Water, 40%

Ethyl Alcohol & Water, 5%

Ethyl Alcohol & Water, 50%

Ethyl Alcohol & Water, 60%

Ethyl Alcohol & Water, 70%

Ethyl Alcohol & Water, 80%

Ethyl Alcohol & Water, 95%

Ethyl Alcohol & Water, 96%

Ethyl alcohol anhydrous

Ethyl Alcohol Anhydrous

Ethyl alcohol in alcoholic beverages

Ethyl alcohol usp

Ethyl Alcohol, Anhydrous

Ethyl Alcohol, Denatured

Ethyl hydrate

Ethyl Hydrate

Ethyl hydroxide

Ethyl Hydroxide

Ethylalcohol

Ethylalcohol [Dutch]

Ethylol

Ethylolamine

Ethyloxy Group

EtOH

Etylowy alkohol

FEMA No. 2419

FEMA Number 2419

Fermentation alcohol

Glycinol

grain alcohol

Grain alcohol

Hinetoless

HSDB 531

HSDB 82

Hydroxyethane

HYDROXYETHYL GROUP

I14-12648

IMS 99

Infinity pure

Infinity Pure

Jaysol

Jaysol S

LS-1539

LTBB002977

Lux

Methylated spirit

Methylated Spirit Mineralised

Methylcarbinol

Molasses alcohol

MolPort-001-785-844

NCGC00091458-01

nchem.651-comp3c

nchembio.552-comp10

nchembio.94-comp20

NCI-C03134

NSC 85228

NSC85228

Oxydimethylene Group

potato Alcohol

Potato alcohol

Punctilious ethyl alcohol

Pyro

QMHAIh@

Reagent Alcohol

Ru-Tuss Expectorant

SDA 3A

SDA 40-2

SDM No. 37

Sekundasprit

Silent spirit

Spirit

Spirits of wine

Spirits OF wine

spiritus vini

Spiritus vini

Spirt

SY Fresh M

Synasol

Tecsol

Tecsol C

Thanol

Thiofaco M-50

Undenatured ethanol

UNII-3K9958V90M

USAF EK-1597

WLN: Q2

Dronabinol

Approved, Illicit

1972-08-3

16078

Synonyms:

&Delta

(-)- delta 9-Tetrahydrocannabinol

(-)-.delta.(sup9)-trans-Tetrahydrocannabinol

(-)-.DELTA.1-Tetrahydrocannabinol

(-)-.DELTA.9-Tetrahydrocannabinol

(-)-.DELTA.9-THC

(-)-.DELTA.9-trans-Tetrahydrocannabinol

(-)-3,4-trans-Delta1-Tetrahydrocannabinol

(-)-delta 1-Tetrahydrocannabinol

(-)-delta 9-THC

(-)-delta 9-trans-Tetrahydrocannabinol

(-)-delta(sup 1)-3,4-trans-Tetrahydrocannabinol

(-)-delta1-Tetrahydrocannabinol

(-)-delta9-(trans)-Tetrahydrocannabinol

(-)-delta9-Tetrahydrocannabinol

(-)-delta9-trans-Tetrahydrocannabinol

(-)-trans-.DELTA.9-Tetrahydrocannabinol

(-)-trans-delta 1-Tetrahydrocannabinol

(-)-trans-delta 9-Tetrahydrocannabinol

(-)-trans-delta 9-THC

(-)-trans-Delta1-Tetrahydrocannabinol

(-)-trans-delta9-Tetrahydrocannabinol

(-)-trans-Delta9-THC

(-)-Δ9-trans-tetrahydrocannabinol

(L)-.delta.1-Tetrahydrocannabinol

(L)-delta 1-Tetrahydrocannabinol

(l)-delta(sup 1)-Tetrahydrocannabinol

(l)-delta1-Tetrahydrocannabinol

.delta.(sup9)-THC

.DELTA.1-Tetrahydrocannabinol

.DELTA.1-THC

.delta.-9-THC

.DELTA.9-THC

.DELTA.9-trans-Tetrahydrocannabinol

1363-19-5

14146-29-3

14146-43-1

14C-.DELTA.1-Tetrahydrocannabinol

14C-delta 1-Tetrahydrocannabinol

1972-08-3

1-trans-.delta.(sup9)-tetrahydrocannabinol

1-trans-D9-Tetrahydrocannabinol

1-trans-delta 9-Tetrahydrocannabinol

1-trans-delta(sup 9)-Tetrahydrocannabinol

1-trans-delta(sup9)-tetrahydrocannabinol

1-trans-delta9-Tetrahydrocannabinol

1-trans-delta-9-Tetrahydrocannabinol

1-trans-Δ-9-tetrahydrocannabinol

26108-45-2

308064-99-5

3-Pentyl-6,6,9-trimethyl-6a,7,8,10a-tetrahydro-6H-dibenzo(b,d)pyran-1-ol

3-Pentyl-6,6,9-trimethyl-6a,7,8,10a-tetrahydro-6H-dibenzo(b,D)pyran-1-ol

5957-27-7

6,6,9-Trimethyl-3-pentyl-6a,7,8,10a-tetrahydro-6H-benzo[c]chromen-1-ol

6465-30-1

6H-Dibenzo

9 Ene tetrahydrocannabinol

9-delta-Tetrahydrocannabinol

9-ene-Tetrahydrocannabinol

9-Ene-tetrahydrocannabinol

9-tetrahydrocannabinol

9-THC

Abbott 40566

AC1L277U

AC1Q2VRZ

BIDD:GT0427

C06972

Cannabinol, Delta1-tetrahydro- (7CI)

Cannabinol, tetrahydro- (6CI)

Cannabis resin

CAT-310

CCRIS 4726

CHEBI:104496

CHEMBL465

CID16078

Compassia

D00306

DB00470

Dea No. 7369

DEA No. 7369

Dea No. 7370

DEA No. 7370

delta 1-Tetrahydrocannabinol

delta 1-THC

delta 9-Tetrahydrocannabinol

delta 9-THC

delta 9-trans-Tetrahydrocannabinol

delta(1)-tetrahydrocannabinol

delta(1)-Tetrahydrocannabinol

Delta(1)-Tetrahydrocannabinol

delta(1)-THC

delta(9)-Tetrahydrocannabinol

delta(9)-Tetrahydrocannibinol

delta(9)-THC

Delta(9)-THC

delta(sup 1)-Tetrahydrocannabinol

delta(sup 1)-Thc

delta(sup 9)-Tetrahydrocannabinol

delta(sup 9)-Thc

delta1-Tetrahydrocannabinol

delta1-Tetrahydrocannabinol (VAN)

delta1-THC

delta9-tetrahydrocannabinol

delta-9-tetrahydrocannabinol

delta9-Tetrahydrocannabinol

DELTA-9-TETRAHYDROCANNABINOL

delta9-Tetrahydrocannabinol (VAN)

Delta9-Tetrahydrocannabinol solution

delta9-THC

delta-9-THC

DELTA-9-THC

delta9-trans-Tetrahydrocannabinol

Deltanyne

delta-THC

DRG-0138

Drona binol

Dronabinol

Dronabinol (USP/INN)

Dronabinol [Usan:Inn]

Dronabinol [USAN:INN]

Dronabinolum

Dronabinolum [Latin]

EPA 28

EPA-PLUS

Exocyclic delta (9)(11)-tetrahydrocannabiol

Fats and Glyceridic oils, fish, n-3 fatty acid-high

Fish oils, n-3 fatty acid-high

Fish oils, omega-3 fatty acid-high

Ganja

Hashish

HSDB 6471

L-.delta.1-Tetrahydrocannabinol

L-.delta.1-trans-Tetrahydrocannabinol

L-delta 1-trans-Tetrahydrocannabinol

L-delta(sup 1)-tetrahydrocannabinol

L-delta1-trans-Tetrahydrocannabinol

LS-975

L-trans-.delta.9-Tetrahydrocannabinol

L-trans-delta 9-Tetrahydrocannabinol

L-trans-delta9-Tetrahydrocannabinol

Marincap

Marinol

Marinol (TN)

MaxEPA

MolPort-003-959-698

Namisol

nchembio.129-comp1

nchembio.552-comp1

nchembio.86-comp3

NSC 134454

NSC134454

omega-3-Fatty acid

Omegaven

PDSP2_000714

Primolut

Promega

Pro-Mega

QCD 84924

QCD-84924

Relivar

Solvay brand OF tetrahydrocannabinol

Sonergx

SP 104

Syndros

T2386_SIGMA

T4764_FLUKA

T4764_SIGMA

Tetrahydrocannabinol

TETRAHYDROCANNABINOL

Tetrahydrocannabinol delta9

Tetrahydrocannabinol, (6ar-cis)-isomer

Tetrahydrocannabinol, (6as-cis)-isomer

Tetrahydrocannabinol, (6a-trans)-isomer

Tetrahydrocannabinol, trans isomer

Tetrahydrocannabinol, trans-(+-)-isomer

Tetrahydrocannabinol, trans-isomer

Tetrahydrocannabinols (-)-delta1-3,4-trans-form

Tetranabinex

THC

THC-delta-9

trans-.DELTA.9-Tetrahydrocannabinol

trans-delta (-)-9-Tetrahydrocannabinol

trans-delta 9-Tetrahydrocannabinol

trans-delta9-Tetrahydrocannabinol

trans-delta-9-Tetrahydrocannabinol

trans-tetrahydrocannabinol

UNII-7J8897W37S

ZINC01530625

Δ(1)-tetrahydrocannabinol

Δ(9)-THC

Δ9-tetrahydrocannabinol

Δ-9-tetrahydrocannabinol

Δ-9-THC

Iodine

Approved, Investigational

7553-56-2

807

Synonyms:

diiodine

Iode

Iodine-molecule

Iodio

iodo

Iodum

Jod

Jood

molecular iodine

Molecular iodine

Tincture iodine

Analgesics, Non-Narcotic

Hormone Antagonists

Analgesics

Hallucinogens

Anti-Infective Agents

Early Phase 1

Anti-Infective Agents, Local

Early Phase 1

cadexomer iodine

Hormones

Interventional clinical trials:

(show all 12)

#	Name	Status	NCT ID	Phase	Drugs
1	Alprazolam and Simulated Driving Performance: Next Day Effects	Completed	NCT03297944	Phase 4	Alprazolam 2mg (2ALP/PLC);Alprazolam 1mg (1ALP/PLC);Alprazolam 0.5mg (0.5ALP/PLC);Zolpidem 10mg (ZOL/PLC);Placebo (PLC/PLC);Alprazolam 1mg (PLC/ALC)
2	Preventing Cholestasis in Premature Infants Using SMOFLipid®	Completed	NCT01585935	Phase 4	SMOFLIPID;INTRALIPID
3	Neuroprotective Effect of High Dose Erythropoietin in Very Preterm Infants	Completed	NCT00413946	Phase 2	Recombinant human Erythropoietin;saline
4	Study on the Effectiveness of Action Observation Treatment (AOT) as a Rehabilitation Tool in Acute Stroke Patients and in Chronic Stroke Patients With Apraxia: a Randomized Controlled Trial	Unknown status	NCT02235350
5	Acute and Residual Effects of Alcohol on Young Drivers' Performance of Driving Related Skills	Completed	NCT02710578		Alcohol;Placebo
6	Acute and Residual Effects of Cannabis on Young Drivers' Performance of Driving-related Skills	Completed	NCT01592409		delta-9-tetrahydrocannabinol;Placebo
7	Effects of Combined Alcohol and Cannabis on Young Drivers' Simulated Driving	Completed	NCT03106363	Early Phase 1	delta 9 tetrahydrocannabinol;placebo delta 9 tetrahydrocannabinol;Alcohol;Placebo alcohol
8	Correlation Between Neonatal Cerebral Oxygenation and Later Psychomotor Outcome in Very-low-birth-weight Preterm Infants.	Completed	NCT03104296
9	Sensory and Psychomotor Profile in Depression	Recruiting	NCT04031937
10	What is the Future of Vulnerable New-borns	Recruiting	NCT04021654
11	Observational Study on the Impact of Iodine Supplementation on Maternal and Child's Thyroid Hormone Homeostasis and on the Child's Psychomotor Development, in the Portuguese Minho Region (IodineMinho)	Recruiting	NCT04288531
12	Evaluation of the Impact of Psychomotricity on the Patients Body Experience in Palliative Care	Not yet recruiting	NCT03959813

Search NIH Clinical Center for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency

Cochrane evidence based reviews: psychomotor disorders

Sources

Genetic Tests for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Genetic tests related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

#	Genetic test	Affiliating Genes
1	Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency ²⁹	SPR

Sources

Anatomical Context for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

MalaCards organs/tissues related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

⁴⁰

Testes, Thyroid, Brain

Sources

Publications for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Articles related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

(show top 50) (show all 64)

#	Title	Authors	PMID	Year
1	Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. ²⁴ ⁵⁶ ⁶ ⁶¹	Friedman J...Blau N	22522443	2012
2	Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. ⁶¹ ²⁴ ⁶ ⁵⁶	Arrabal L...Desviat LR	21431957	2011
3	Two Greek siblings with sepiapterin reductase deficiency. ²⁴ ⁵⁶ ⁶ ⁶¹	Verbeek MM...Zafeiriou DI	18502672	2008
4	Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. ⁶¹ ²⁴ ⁶ ⁵⁶	Friedman J...MacCollin M	17159114	2006
5	Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. ⁵⁶ ²⁴ ⁶ ⁶¹	Neville BG...Felice A	16049044	2005
6	Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. ²⁴ ⁶ ⁵⁶	Steinberger D...Muller U	15241655	2004
7	Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. ²⁴ ⁶ ⁵⁶	Bonafe L...Blau N	11443547	2001
8	Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading. ⁶ ⁵⁶ ²⁴	Blau N...Hoffmann GF	10384371	1999
9	Dihydropteridine reductase deficiency localized to the central nervous system. ⁶ ²⁴ ⁵⁶	Blau N...Hyland K	9700606	1998
10	Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. ⁶¹ ⁶ ²⁴	Abeling NG...Poll-The BT	16650784	2006
11	Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy. ⁶¹ ²⁴ ⁵²	Echenne B...Hoffmann GF	17074599	2006
12	Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency. ⁶¹ ⁵⁶	Carducci C...Leuzzi V	26123188	2015
13	Sepiapterin Reductase Deficiency ⁶¹ ⁶	Friedman J	26131547	2015
14	A murine model for human sepiapterin-reductase deficiency. ⁵⁶ ⁶¹	Yang S...Oh SP	16532389	2006
15	Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. ²⁴ ⁶¹	Koht J...Toft M	24588500	2014
16	Very early pattern of movement disorders in sepiapterin reductase deficiency. ²⁴ ⁶¹	Leuzzi V...Carducci C	24212389	2013
17	A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood. ⁶¹ ²⁴	Lohmann E...Tolun A	22018912	2012
18	Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. ⁶¹ ²⁴	Thibert R...Eichler F	23430877	2012
19	Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. ²⁴ ⁶¹	Dill P...Weber P	22291068	2012
20	Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features. ²⁴ ⁶¹	Wali GM...Blau N	20222129	2010
21	Sleep and rhythm consequences of a genetically induced loss of serotonin. ²⁴ ⁶¹	Leu-Semenescu S...Roze E	20337188	2010
22	Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up. ⁶¹ ²⁴	Kusmierska K...Sykut-Cegielska J	19130291	2009
23	A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. ⁶	Bikker H...Duran M	16752391	2006
24	Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. ²⁴ ⁶¹	Blau N...Thony B	11592814	2001
25	The role of tetrahydrobiopterin and catecholamines in the developmental regulation of tyrosine hydroxylase level in the brain. ²⁴	Homma D...Ichinose H	23647001	2013
26	Tetrahydrobiopterin biosynthesis as an off-target of sulfa drugs. ²⁴	Haruki H...Johnsson K	23704574	2013
27	Good obstetric outcome in a patient with Segawa disease. ²⁴	Watanabe T...Matsubara S	22836471	2012
28	Whole-genome sequencing for optimized patient management. ²⁴	Bainbridge MN...Gibbs RA	21677200	2011
29	Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brain. ²⁴	Homma D...Ichinose H	21062748	2011
30	Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. ²⁴	Brun L...Blau N	20505134	2010
31	Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. ²⁴	Trender-Gerhard I...Bhatia KP	19332422	2009
32	Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. ²⁴	Clot F...French Dystonia Network	19491146	2009
33	Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients. ²⁴	Concolino D...Strisciuglio P	18425437	2008
34	A brain-specific decrease of the tyrosine hydroxylase protein in sepiapterin reductase-null mice--as a mouse model for Parkinson's disease. ²⁴	Takazawa C...Katoh S	18201550	2008
35	Congenital DOPA-responsive disorders: a diagnostic and therapeutic challenge to the cerebral palsies? ²⁴	Neville B	17253992	2007
36	Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. ²⁴	Chang YT...Hyland K	14991824	2004
37	Serum prolactin in symptomatic and asymptomatic dopa-responsive dystonia due to a GCH1 mutation. ²⁴	Furukawa Y...Kish SJ	12874420	2003
38	Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. ²⁴	Leuzzi V...Antonozzi I	12391354	2002
39	Neurotransmitter metabolites in CSF: an external quality control scheme. ²⁴	Brautigam C...Wevers RA	12227459	2002
40	Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. ²⁴	Bonafe L...Blau N	11238300	2001
41	Dopa-responsive dystonia: recent advances and remaining issues to be addressed. ²⁴	Furukawa Y...Kish SJ	10495030	1999
42	An absolute contraindication to nitrous oxide. ²⁴	Wyatt SS...Gill RS	10364889	1999
43	Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. ²⁴	Hyland K...Trugman JM	9153460	1997
44	Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population. ²⁴	Hyland K...Smith I	7689195	1993
45	Dopa-responsive dystonia: long-term treatment response and prognosis. ²⁴	Nygaard TG...Fahn S	1899474	1991
46	Adverse effects of trimethoprim-sulfamethoxazole in a child with dihydropteridine reductase deficiency. ²⁴	Woody RC...Brewster MA	2391014	1990
47	A new mechanism for regulation of tyrosine 3-monooxygenase by end product and cyclic AMP-dependent protein kinase. ²⁴	Okuno S...Fujisawa H	2857715	1985
48	Selection, characterization, and electrochemical biosensing application of DNA aptamers for sepiapterin. ⁶¹	Eissa S...Zourob M	32456943	2020
49	Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. ⁶¹	Opladen T...International Working Group on Neurotransmitter related Disorders (iNTD)	32456656	2020
50	Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency. ⁶¹	Jiang G...Dai F	32269807	2020

Sources

Genes for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Genes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency (1 elite genes):

(show all 26)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SPR	Sepiapterin Reductase	Protein Coding	1676.59	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	16049044 9700606 10384371 (more) 15241655 17159114 26131547 11443547 18502672 16752391 21431957 22522443 16650784
2	SRRD	SRR1 Domain Containing	Protein Coding	6.96	DISEASES inferred ¹⁵
3	PRODH	Proline Dehydrogenase 1	Protein Coding	6.83	DISEASES inferred ¹⁵ ¹⁵
4	GCH1	GTP Cyclohydrolase 1	Protein Coding	6.75	DISEASES inferred ¹⁵
5	MBTPS1	Membrane Bound Transcription Factor Peptidase, Site 1	Protein Coding	6.66	DISEASES inferred ¹⁵
6	CASZ1	Castor Zinc Finger 1	Protein Coding	6.63	DISEASES inferred ¹⁵
7	SCAP	SREBF Chaperone	Protein Coding	6.54	DISEASES inferred ¹⁵
8	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	6.53	DISEASES inferred ¹⁵ ¹⁵
9	CCT4	Chaperonin Containing TCP1 Subunit 4	Protein Coding	6.42	DISEASES inferred ¹⁵
10	INSIG1	Insulin Induced Gene 1	Protein Coding	6.41	DISEASES inferred ¹⁵
11	INSIG2	Insulin Induced Gene 2	Protein Coding	6.33	DISEASES inferred ¹⁵
12	CAVIN2	Caveolae Associated Protein 2	Protein Coding	6.19	DISEASES inferred ¹⁵
13	QDPR	Quinoid Dihydropteridine Reductase	Protein Coding	6.13	DISEASES inferred ¹⁵
14	SRXN1	Sulfiredoxin 1	Protein Coding	6.06	DISEASES inferred ¹⁵
15	CHD5	Chromodomain Helicase DNA Binding Protein 5	Protein Coding	6.04	DISEASES inferred ¹⁵
16	SREBF2	Sterol Regulatory Element Binding Transcription Factor 2	Protein Coding	5.94	DISEASES inferred ¹⁵
17	DHRS7C	Dehydrogenase/Reductase 7C	Protein Coding	5.86	DISEASES inferred ¹⁵
18	PCBD1	Pterin-4 Alpha-Carbinolamine Dehydratase 1	Protein Coding	5.85	DISEASES inferred ¹⁵
19	MCEE	Methylmalonyl-CoA Epimerase	Protein Coding	5.84	DISEASES inferred ¹⁵
20	SRR	Serine Racemase	Protein Coding	5.76	DISEASES inferred ¹⁵
21	RNF207	Ring Finger Protein 207	Protein Coding	5.74	DISEASES inferred ¹⁵
22	SPRR3	Small Proline Rich Protein 3	Protein Coding	5.74	DISEASES inferred ¹⁵
23	AJAP1	Adherens Junctions Associated Protein 1	Protein Coding	5.69	DISEASES inferred ¹⁵
24	GMDS	GDP-Mannose 4,6-Dehydratase	Protein Coding	5.59	DISEASES inferred ¹⁵
25	MAS1	MAS1 Proto-Oncogene, G Protein-Coupled Receptor	Protein Coding	5.58	DISEASES inferred ¹⁵
26	PPP1R8	Protein Phosphatase 1 Regulatory Subunit 8	Protein Coding	5.57	DISEASES inferred ¹⁵

Sources

Variations for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

ClinVar genetic disease variations for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

⁶ (show all 45) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SPR	NM_003124.4(SPR):c.596del (p.Gly199Valfs)	deletion	Pathogenic	522878	rs1553498582	2:73118475-73118475	2:72891346-72891346
2	SPR	NM_003124.5(SPR):c.355C>T (p.Gln119Ter)	SNV	Pathogenic	12939	rs121917746	2:73115493-73115493	2:72888364-72888364
3	SPR	NM_003124.5(SPR):c.448_452del (p.Thr151fs)	deletion	Pathogenic	12940	rs587776777	2:73115583-73115587	2:72888454-72888458
4	SPR	NM_003124.5(SPR):c.448A>G (p.Arg150Gly)	SNV	Pathogenic	12941	rs104893665	2:73115586-73115586	2:72888457-72888457
5	SPR	SPR, -13G-A	SNV	Pathogenic	12942
6	SPR	NM_003124.5(SPR):c.488C>T (p.Pro163Leu)	SNV	Pathogenic	12943	rs104893666	2:73115626-73115626	2:72888497-72888497
7	SPR	NM_003124.5(SPR):c.751A>T (p.Lys251Ter)	SNV	Pathogenic	12944	rs121917747	2:73118631-73118631	2:72891502-72891502
8	SPR	NM_003124.5(SPR):c.304G>T (p.Gly102Cys)	SNV	Pathogenic	31917	rs387907200	2:73114865-73114865	2:72887736-72887736
9	SPR	NM_003124.5(SPR):c.596-2A>G	SNV	Pathogenic	39869	rs398122922	2:73118474-73118474	2:72891345-72891345
10	SPR	NM_003124.5(SPR):c.655C>T (p.Arg219Ter)	SNV	Pathogenic	235551	rs779204655	2:73118535-73118535	2:72891406-72891406
11	SPR	NM_003124.5(SPR):c.18_19insGGGCGGGCTG (p.Arg7fs)	insertion	Likely pathogenic	666329		2:73114578-73114579	2:72887449-72887450
12	SPR	NM_003124.5(SPR):c.524C>A (p.Ala175Asp)	SNV	Likely pathogenic	807499		2:73115662-73115662	2:72888533-72888533
13	SPR	NM_003124.5(SPR):c.369C>T (p.Tyr123=)	SNV	Conflicting interpretations of pathogenicity	336990	rs146349901	2:73115507-73115507	2:72888378-72888378
14	SPR	NM_003124.5(SPR):c.*321G>C	SNV	Uncertain significance	336995	rs527829365	2:73118987-73118987	2:72891858-72891858
15	SPR	NM_003124.5(SPR):c.*400C>T	SNV	Uncertain significance	336996	rs886056289	2:73119066-73119066	2:72891937-72891937
16	SPR	NM_003124.5(SPR):c.*410C>G	SNV	Uncertain significance	336997	rs886056290	2:73119076-73119076	2:72891947-72891947
17	SPR	NM_003124.5(SPR):c.328G>C (p.Gly110Arg)	SNV	Uncertain significance	455979	rs201651366	2:73115466-73115466	2:72888337-72888337
18	SPR	NM_003124.5(SPR):c.106G>A (p.Val36Met)	SNV	Uncertain significance	224123	rs869312688	2:73114667-73114667	2:72887538-72887538
19	SPR	NM_003124.5(SPR):c.-4G>C	SNV	Uncertain significance	897671		2:73114558-73114558	2:72887429-72887429
20	SPR	NM_003124.5(SPR):c.23C>T (p.Ala8Val)	SNV	Uncertain significance	897672		2:73114584-73114584	2:72887455-72887455
21	SPR	NM_003124.5(SPR):c.120C>T (p.Ser40=)	SNV	Uncertain significance	898835		2:73114681-73114681	2:72887552-72887552
22	SPR	NM_003124.5(SPR):c.477T>C (p.Cys159=)	SNV	Uncertain significance	898837		2:73115615-73115615	2:72888486-72888486
23	SPR	NM_003124.5(SPR):c.486A>G (p.Gln162=)	SNV	Uncertain significance	895871		2:73115624-73115624	2:72888495-72888495
24	SPR	NM_003124.5(SPR):c.536T>C (p.Met179Thr)	SNV	Uncertain significance	895872		2:73115674-73115674	2:72888545-72888545
25	SPR	NM_003124.5(SPR):c.556C>G (p.Leu186Val)	SNV	Uncertain significance	895873		2:73115694-73115694	2:72888565-72888565
26	SPR	NM_003124.5(SPR):c.*233G>A	SNV	Uncertain significance	896146		2:73118899-73118899	2:72891770-72891770
27	SPR	NM_003124.5(SPR):c.*377G>A	SNV	Uncertain significance	896147		2:73119043-73119043	2:72891914-72891914
28	SPR	NM_003124.5(SPR):c.291_293del (p.Ile98del)	deletion	Uncertain significance	590838	rs1559048107	2:73114851-73114853	2:72887722-72887724
29	SPR	NM_003124.5(SPR):c.80T>C (p.Leu27Pro)	SNV	Uncertain significance	635029	rs1559047972	2:73114641-73114641	2:72887512-72887512
30	SPR	NM_003124.5(SPR):c.706G>A (p.Val236Met)	SNV	Uncertain significance	660797		2:73118586-73118586	2:72891457-72891457
31	SPR	NM_003124.5(SPR):c.*575G>A	SNV	Uncertain significance	896149		2:73119241-73119241	2:72892112-72892112
32	SPR	NM_003124.5(SPR):c.*607A>C	SNV	Uncertain significance	897747		2:73119273-73119273	2:72892144-72892144
33	SPR	NM_003124.5(SPR):c.305-12T>C	SNV	Uncertain significance	898836		2:73115431-73115431	2:72888302-72888302
34	SPR	NM_003124.5(SPR):c.595+7G>A	SNV	Uncertain significance	895874		2:73115740-73115740	2:72888611-72888611
35	SPR	NM_003124.5(SPR):c.596-4C>G	SNV	Uncertain significance	895875		2:73118472-73118472	2:72891343-72891343
36	SPR	NM_003124.5(SPR):c.115C>T (p.Leu39Phe)	SNV	Uncertain significance	336989	rs777872233	2:73114676-73114676	2:72887547-72887547
37	SPR	NM_003124.5(SPR):c.380A>G (p.Asn127Ser)	SNV	Uncertain significance	336991	rs755878397	2:73115518-73115518	2:72888389-72888389
38	SPR	NM_003124.5(SPR):c.*50C>T	SNV	Uncertain significance	336992	rs760241473	2:73118716-73118716	2:72891587-72891587
39	SPR	NM_003124.5(SPR):c.*108G>A	SNV	Uncertain significance	336993	rs372751802	2:73118774-73118774	2:72891645-72891645
40	SPR	NM_003124.5(SPR):c.*597C>A	SNV	Uncertain significance	336998	rs886056291	2:73119263-73119263	2:72892134-72892134
41	SPR	NM_003124.5(SPR):c.87G>C (p.Ser29=)	SNV	Uncertain significance	336988	rs886056287	2:73114648-73114648	2:72887519-72887519
42	SPR	NM_003124.5(SPR):c.112G>A (p.Val38Ile)	SNV	Benign/Likely benign	239509	rs146099322	2:73114673-73114673	2:72887544-72887544
43	SPR	NM_003124.5(SPR):c.785A>G (p.Ter262=)	SNV	Benign	412652	rs145082655	2:73118665-73118665	2:72891536-72891536
44	SPR	NM_003124.5(SPR):c.-7C>G	SNV	Benign	336987	rs184034436	2:73114555-73114555	2:72887426-72887426
45	SPR	NM_003124.5(SPR):c.*432G>A	SNV	Benign	896148		2:73119098-73119098	2:72891969-72891969

UniProtKB/Swiss-Prot genetic disease variations for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	SPR	p.Arg150Gly	VAR_058007	rs104893665
2	SPR	p.Pro163Leu	VAR_058008	rs104893666

Sources

Expression for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Search GEO for disease gene expression data for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency.

Sources

Pathways for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Pathways related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.69	SRR SREBF2 SPR SCAP QDPR PRODH
2	Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism ⁶⁵ Show member pathways 2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA ¹ 2-oxoglutarate decarboxylation to succinyl-CoA ¹ 4-hydroxybenzoate biosynthesis ¹ L-kynurenine degradation ¹ Lysine catabolism ⁶⁵ lysine degradation I (saccharopine pathway) ¹ Phenylalanine and tyrosine catabolism ⁶⁵ Proline catabolism ⁶⁵ proline degradation ¹ Tryptophan catabolism ⁶⁵ tryptophan degradation ¹ tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde ¹ tyrosine degradation ¹	11.59	QDPR PRODH PCBD1
3	Regulation of cholesterol biosynthesis by SREBP (SREBF) ⁶⁵ Show member pathways Activation of gene expression by SREBF (SREBP) ⁶⁵	11.54	SREBF2 SCAP MBTPS1 INSIG2 INSIG1
4	Sterol Regulatory Element-Binding Proteins (SREBP) signalling ¹	10.88	SREBF2 SCAP MBTPS1 INSIG2 INSIG1
5	Folate biosynthesis ³⁶ Show member pathways phenylalanine degradation/tyrosine biosynthesis ¹	10.72	SPR QDPR PCBD1 GCH1

Sources

GO Terms for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Cellular components related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	SREBP-SCAP-Insig complex	GO:0032937	8.8	SREBF2 INSIG2 INSIG1

Biological processes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidation-reduction process	GO:0055114	9.97	SRXN1 SPR QDPR PRODH PCBD1 DHRS7C
2	lipid metabolic process	GO:0006629	9.95	SREBF2 SCAP MBTPS1 INSIG2 INSIG1
3	steroid metabolic process	GO:0008202	9.65	SREBF2 SCAP MBTPS1 INSIG2 INSIG1
4	regulation of cholesterol biosynthetic process	GO:0045540	9.58	SREBF2 SCAP MBTPS1
5	middle ear morphogenesis	GO:0042474	9.57	INSIG2 INSIG1
6	negative regulation of fatty acid biosynthetic process	GO:0045717	9.56	INSIG2 INSIG1
7	cholesterol metabolic process	GO:0008203	9.55	SREBF2 SCAP MBTPS1 INSIG2 INSIG1
8	nitric oxide biosynthetic process	GO:0006809	9.54	SPR GCH1
9	cofactor metabolic process	GO:0051186	9.52	SPR GCH1
10	L-phenylalanine catabolic process	GO:0006559	9.51	QDPR PCBD1
11	cranial suture morphogenesis	GO:0060363	9.48	INSIG2 INSIG1
12	negative regulation of steroid biosynthetic process	GO:0010894	9.46	INSIG2 INSIG1
13	response to sterol depletion	GO:0006991	9.43	INSIG2 INSIG1
14	dihydrobiopterin metabolic process	GO:0051066	9.37	QDPR GCH1
15	SREBP-SCAP complex retention in endoplasmic reticulum	GO:0036316	9.32	INSIG2 INSIG1
16	SREBP signaling pathway	GO:0032933	9.26	SREBF2 SCAP INSIG2 INSIG1
17	tetrahydrobiopterin biosynthetic process	GO:0006729	8.92	SPR QDPR PCBD1 GCH1

Molecular functions related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidoreductase activity	GO:0016491	9.02	SRXN1 SPR QDPR PRODH DHRS7C

Sources

Sources for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency (DRDSPRD)

Aliases & Classifications for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

MalaCards integrated aliases for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Related Diseases for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Diseases related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

Symptoms & Phenotypes for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Human phenotypes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

GenomeRNAi Phenotypes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

Drugs & Therapeutics for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Drugs for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: psychomotor disorders

Genetic Tests for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Genetic tests related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

Anatomical Context for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

MalaCards organs/tissues related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

Publications for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Articles related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

Genes for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Genes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency (1 elite genes):

Variations for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

ClinVar genetic disease variations for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

UniProtKB/Swiss-Prot genetic disease variations for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency:

Expression for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Pathways for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Pathways related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

GO Terms for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...

Cellular components related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

Biological processes related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

Molecular functions related to Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency according to GeneCards Suite gene sharing:

Sources for Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase...