MCID: PRS125
MIFTS: 11

Pura Syndrome

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Pura Syndrome

MalaCards integrated aliases for Pura Syndrome:

Name: Pura Syndrome 49 24
Pura-Related Neurodevelopmental Disorder 49 24
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome 24

Classifications:



Summaries for Pura Syndrome

NIH Rare Diseases : 49 PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, moderate to severe intelectual disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. Additional signs and symptoms may include autism; excessive drowsiness; difficulty controlling body temperature; heart, gastrointestinal, eye and hormonal problems; skeletal problems such as an abnormal curvature of the spine (scoliosis) or a small hip socket that doesn't fully cover the upper thighbone, known as hip dysplasia;and short stature.  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 (variant or 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 and surgery to correct any birth defects or bone problems. Early intervention is important. Last updated: 1/19/2018

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. Affiliated tissues include testes, heart and bone.

Genetics Home Reference : 24 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.

Related Diseases for Pura Syndrome

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

# Related Disease Score Top Affiliating Genes
1 pura-related neurodevelopmental disorders 12.5
2 mental retardation, autosomal dominant 31 11.8

Symptoms & Phenotypes for Pura Syndrome

Drugs & Therapeutics for Pura Syndrome

Search Clinical Trials , NIH Clinical Center for Pura Syndrome

Genetic Tests for Pura Syndrome

Anatomical Context for Pura Syndrome

MalaCards organs/tissues related to Pura Syndrome:

38
Testes, Heart, Bone, Eye

Publications for Pura Syndrome

Articles related to Pura Syndrome:

# Title Authors Year
1
PURA-Related Neurodevelopmental Disorders ( 28448108 )
1993

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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