MCID: 5Q3002
MIFTS: 12

5q31.3 Microdeletion Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for 5q31.3 Microdeletion Syndrome

MalaCards integrated aliases for 5q31.3 Microdeletion Syndrome:

Name: 5q31.3 Microdeletion Syndrome 25 59
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to 5q31.3 Microdeletion 25 59
Monosomy 5q31.3 59
Del(5)(q31.3) 59

Characteristics:

Orphanet epidemiological data:

59
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA314655
ICD10 via Orphanet 34 Q93.5

Summaries for 5q31.3 Microdeletion Syndrome

Genetics Home Reference : 25 5q31.3 microdeletion syndrome is a condition characterized by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and difficulty swallowing (dysphagia) can be life-threatening.

MalaCards based summary : 5q31.3 Microdeletion Syndrome, also known as severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion, is related to encephalopathy and hypotonia. An important gene associated with 5q31.3 Microdeletion Syndrome is PURA (Purine Rich Element Binding Protein A).

Related Diseases for 5q31.3 Microdeletion Syndrome

Diseases related to 5q31.3 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 encephalopathy 10.0
2 hypotonia 10.0

Symptoms & Phenotypes for 5q31.3 Microdeletion Syndrome

Drugs & Therapeutics for 5q31.3 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 5q31.3 Microdeletion Syndrome

Genetic Tests for 5q31.3 Microdeletion Syndrome

Anatomical Context for 5q31.3 Microdeletion Syndrome

Publications for 5q31.3 Microdeletion Syndrome

Articles related to 5q31.3 Microdeletion Syndrome:

# Title Authors Year
1
Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. ( 26582469 )
2015
2
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. ( 25439098 )
2014
3
5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. ( 23950017 )
2013
4
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. ( 22711443 )
2012

Variations for 5q31.3 Microdeletion Syndrome

Expression for 5q31.3 Microdeletion Syndrome

Search GEO for disease gene expression data for 5q31.3 Microdeletion Syndrome.

Pathways for 5q31.3 Microdeletion Syndrome

GO Terms for 5q31.3 Microdeletion Syndrome

Sources for 5q31.3 Microdeletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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