MCID: PRR032
MIFTS: 15

Pura-Related Neurodevelopmental Disorders

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Pura-Related Neurodevelopmental Disorders

MalaCards integrated aliases for Pura-Related Neurodevelopmental Disorders:

Name: Pura-Related Neurodevelopmental Disorders 24
Pura Syndrome 52 25 6
Pura-Related Neurodevelopmental Disorder 52 25
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome 25

Characteristics:

GeneReviews:

24
Penetrance To the authors' knowledge, the penetrance of all intragenic pura pathogenic variants and 5q31.3 deletions encompassing pura is complete.

Classifications:



Summaries for Pura-Related Neurodevelopmental Disorders

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. PURA PURA Recurrent seizures (epilepsy) are also common in PURA syndrome. Seizures usually begin before age 5 with uncontrolled muscle jerks (myoclonus). Other types of seizures can develop, such as generalized tonic-clonic seizures, which involve loss of consciousness, muscle rigidity, and convulsions. In people with PURA syndrome, seizures are often difficult to control. PURA PURA Other features in people with PURA syndrome can include abnormalities of the heart, eyes, urogenital tract, gastrointestinal tract, and skeleton. Some affected individuals have symptoms of a hormonal problem, such as early sexual development (precocious puberty) or low levels of vitamin D (which is a hormone). PURA

MalaCards based summary : Pura-Related Neurodevelopmental Disorders, also known as pura syndrome, is related to mental retardation, autosomal dominant 31 and scoliosis. An important gene associated with Pura-Related Neurodevelopmental Disorders is PURA (Purine Rich Element Binding Protein A). Affiliated tissues include eye, heart and bone.

NIH Rare Diseases : 52 PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay , moderate to severe intellectual 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.

Wikipedia : 74 Pur-alpha is a protein that in humans is encoded by the PURA gene located at chromosome 5, band... more...

GeneReviews: NBK426063

Related Diseases for Pura-Related Neurodevelopmental Disorders

Diseases in the Chd2-Related Neurodevelopmental Disorders family:

Grin1-Related Neurodevelopmental Disorder Grin2b-Related Neurodevelopmental Disorder
Ppp2r5d-Related Neurodevelopmental Disorder Pura-Related Neurodevelopmental Disorders

Diseases related to Pura-Related Neurodevelopmental Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 mental retardation, autosomal dominant 31 10.2
2 scoliosis 10.2
3 dystonia 10.2
4 dysphagia 10.2
5 hypotonia 10.2
6 alacrima, achalasia, and mental retardation syndrome 10.2
7 west syndrome 10.0
8 lennox-gastaut syndrome 10.0
9 pituitary gland disease 10.0
10 pathologic nystagmus 10.0
11 precocious puberty 10.0
12 myotonia 10.0

Graphical network of the top 20 diseases related to Pura-Related Neurodevelopmental Disorders:



Diseases related to Pura-Related Neurodevelopmental Disorders

Symptoms & Phenotypes for Pura-Related Neurodevelopmental Disorders

Drugs & Therapeutics for Pura-Related Neurodevelopmental Disorders

Search Clinical Trials , NIH Clinical Center for Pura-Related Neurodevelopmental Disorders

Genetic Tests for Pura-Related Neurodevelopmental Disorders

Anatomical Context for Pura-Related Neurodevelopmental Disorders

MalaCards organs/tissues related to Pura-Related Neurodevelopmental Disorders:

40
Eye, Heart, Bone, Testes

Publications for Pura-Related Neurodevelopmental Disorders

Articles related to Pura-Related Neurodevelopmental Disorders:

# Title Authors PMID Year
1
Expanding the neurodevelopmental phenotype of PURA syndrome. 61 52
29150892 2018
2
PURA Syndrome and Myotonia. 61
31911028 2020
3
A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem. 61
32089526 2020
4
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 61
29097605 2018
5
PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions. 61
29221753 2018
6
Premature Thelarche and the PURA Syndrome. 61
28486374 2017
7
PURA-Related Neurodevelopmental Disorders 61
28448108 2017

Variations for Pura-Related Neurodevelopmental Disorders

ClinVar genetic disease variations for Pura-Related Neurodevelopmental Disorders:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PURA NM_005859.5(PURA):c.424dup (p.Ala142fs)duplication Pathogenic 692074 5:139494187-139494188 5:140114602-140114603

Expression for Pura-Related Neurodevelopmental Disorders

Search GEO for disease gene expression data for Pura-Related Neurodevelopmental Disorders.

Pathways for Pura-Related Neurodevelopmental Disorders

GO Terms for Pura-Related Neurodevelopmental Disorders

Sources for Pura-Related Neurodevelopmental Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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