MCID: PRS125
MIFTS: 12

Pura Syndrome

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Pura Syndrome

MalaCards integrated aliases for Pura Syndrome:

Name: Pura Syndrome 50 25
Pura-Related Neurodevelopmental Disorder 50 25
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome 25

Classifications:



Summaries for Pura Syndrome

Genetics Home Reference : 25 PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking. Expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech), and most affected individuals are unable to speak. People with PURA syndrome may learn to walk later than their peers; many are never able to walk. In infancy, affected infants have very weak muscle tone (hypotonia) and feeding difficulties. Problems with swallowing (dysphagia) can last throughout life. In addition, affected infants can be excessively sleepy (hypersomnolent), have a low body temperature (hypothermia), and have short pauses in breathing (apnea) or episodes of abnormally slow breathing (hypoventilation). These breathing problems usually go away after age 1.

MalaCards based summary : Pura Syndrome, also known as pura-related neurodevelopmental disorder, is related to pura-related neurodevelopmental disorders and mental retardation, autosomal dominant 31. The drugs Amlodipine and Candesartan have been mentioned in the context of this disorder. Affiliated tissues include testes.

NIH Rare Diseases : 50 pura syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, learning disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. pura syndrome occurs when one of a person's two copies of the pura gene, located on chromosome 5, does not function normally. this can be caused by a spelling mistake (mutation) in the gene or by loss of one copy of the gene (deletion). because the features of pura syndrome are common, a genetic test (such as whole genome sequencing) is needed for diagnosis. treatment typically includes speech and language support as well as physical and occupational therapy. early intervention is key. last updated: 1/23/2017

Related Diseases for Pura Syndrome

Diseases related to Pura Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pura-related neurodevelopmental disorders 12.4
2 mental retardation, autosomal dominant 31 11.6

Symptoms & Phenotypes for Pura Syndrome

Drugs & Therapeutics for Pura Syndrome

Drugs for Pura Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4 88150-42-9 2162
2
Candesartan Approved Phase 4 139481-59-7 2541
3
Metformin Approved Phase 4 657-24-9 14219 4091
4
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
5
Ginseng Approved, Nutraceutical Phase 4 50647-08-0
6
Angiotensin II Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
7 Angiotensin II Type 1 Receptor Blockers Phase 4
8 Angiotensin Receptor Antagonists Phase 4
9 Angiotensinogen Phase 4
10 Antihypertensive Agents Phase 4
11 calcium channel blockers Phase 4
12 Calcium, Dietary Phase 4
13
Candesartan cilexetil Phase 4 145040-37-5 2540
14 Hypoglycemic Agents Phase 4
15 Vasodilator Agents Phase 4
16
Azithromycin Approved Phase 3 83905-01-5 55185 53477736 447043
17
Cefixime Approved Phase 3 79350-37-1 54362 5362065
18 Anti-Bacterial Agents Phase 3
19 Anti-Infective Agents Phase 3
20
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
21 Dopamine Agents Phase 2
22 Dopamine agonists Phase 2
23 N 0437 Phase 2
24 Neurotransmitter Agents Phase 2
25 Antibodies
26 Immunoglobulins

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Trial of Chinese Herbal Medicine in the Treatment of Upper Respiratory Tract Infections (URTIs) Completed NCT00887172 Phase 4 Jing Fang Bai Du san;Placebo;Ying Qiao san
2 A Randomized, Double-Blind, Active Control Trial Comparing Effects of Telmisartan, Candesartan and Amlodipine, Alone or Plus Metformin, on Non-Diabetic, Obese Hypertensive Patients Completed NCT00538486 Phase 4 Telmisartan plus Metformin;Telmisartan;Candesartan;Candesartan plus Metformin;Amlodipine;Amlodipine plus Metformin
3 Empiric Therapy of Mucopurulent Cervicitis (MPC) Terminated NCT01072136 Phase 3 Azithromycin;Cefixime
4 A Placebo-Controlled Study for SPM 962 in Restless Legs Syndrome (RLS) Patients Completed NCT00666965 Phase 2 SPM 962
5 Causes and Factors Associated With Outcomes in Community-acquired Sepsis and Severe Sepsis in Northeast Thailand Unknown status NCT02217592
6 Microbiology of Para- og Retropharyngeal Abscess Recruiting NCT02640456

Search NIH Clinical Center for Pura Syndrome

Genetic Tests for Pura Syndrome

Anatomical Context for Pura Syndrome

MalaCards organs/tissues related to Pura Syndrome:

39
Testes

Publications for Pura Syndrome

Variations for Pura Syndrome

Expression for Pura Syndrome

Search GEO for disease gene expression data for Pura Syndrome.

Pathways for Pura Syndrome

GO Terms for Pura Syndrome

Sources for Pura Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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