MCID: 5Q3002
MIFTS: 23

5q31.3 Microdeletion Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 5q31.3 Microdeletion Syndrome

MalaCards integrated aliases for 5q31.3 Microdeletion Syndrome:

Name: 5q31.3 Microdeletion Syndrome 43 58
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to 5q31.3 Microdeletion 43 58
Monosomy 5q31.3 58
Del(5)(q31.3) 58

Characteristics:

Orphanet epidemiological data:

58
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for 5q31.3 Microdeletion Syndrome

MedlinePlus Genetics : 43 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.5q31.3 microdeletion syndrome is also characterized by distinctive facial features. Such features include a narrow forehead, widely spaced eyes (hypertelorism), an open mouth with an upper lip that points outward (called a tented lip), a high arch in the roof of the mouth (high-arched palate), a small lower jaw (micrognathia), and a lack of facial expression. Some of these features, such as an open mouth with a tented lip and an expressionless face, are thought to be due to hypotonia.Recurrent seizures (epilepsy) and seizure-like episodes (which can include muscle jerking, twitching, and stiffening), are common in 5q31.3 microdeletion syndrome. Many individuals with 5q31.3 microdeletion syndrome have brain abnormalities, several of which are caused by reduced production of myelin or delayed maturation of myelin. Myelin is the protective covering that insulates nerves and ensures the rapid transmission of nerve impulses.

MalaCards based summary : 5q31.3 Microdeletion Syndrome, also known as severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion, is related to hypotonia and mental retardation, autosomal dominant 31. An important gene associated with 5q31.3 Microdeletion Syndrome is PURA (Purine Rich Element Binding Protein A). Affiliated tissues include brain and heart, and related phenotypes are eeg abnormality and ptosis

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 hypotonia 10.4
2 mental retardation, autosomal dominant 31 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.1
4 amenorrhea 10.1
5 encephalopathy 10.1
6 seizure disorder 10.1

Graphical network of the top 20 diseases related to 5q31.3 Microdeletion Syndrome:



Diseases related to 5q31.3 Microdeletion Syndrome

Symptoms & Phenotypes for 5q31.3 Microdeletion Syndrome

Human phenotypes related to 5q31.3 Microdeletion Syndrome:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
2 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
3 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
4 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
5 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
6 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
7 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
8 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
9 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
10 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
11 deep philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0002002
12 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
13 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
14 prominent metopic ridge 58 31 frequent (33%) Frequent (79-30%) HP:0005487
15 sparse lateral eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0005338
16 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
17 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
18 brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012444
19 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
20 delayed myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012448
21 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
22 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
23 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
24 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
25 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
26 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
27 recurrent pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006532
28 severe muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006829
29 abnormal heart morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001627
30 aspiration pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011951
31 speech apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011098
32 polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0010442
33 hypoventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002791
34 epileptic spasm 31 occasional (7.5%) HP:0011097
35 bilateral tonic-clonic seizure with generalized onset 31 occasional (7.5%) HP:0025190
36 focal tonic seizure 31 occasional (7.5%) HP:0011167
37 seizures 58 Occasional (29-5%)
38 generalized tonic-clonic seizures without focal onset 58 Occasional (29-5%)
39 focal tonic seizures 58 Occasional (29-5%)
40 epileptic spasms 58 Occasional (29-5%)

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

MalaCards organs/tissues related to 5q31.3 Microdeletion Syndrome:

40
Brain, Heart

Publications for 5q31.3 Microdeletion Syndrome

Articles related to 5q31.3 Microdeletion Syndrome:

# Title Authors PMID Year
1
Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA. 61
29619234 2018
2
Patient with a novel purine-rich element binding protein A mutation. 61
28164378 2017
3
Structural basis of nucleic-acid recognition and double-strand unwinding by the essential neuronal protein Pur-alpha. 61
26744780 2016
4
De novo mutations in PURA are associated with hypotonia and developmental delay. 61
27148565 2015
5
Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. 61
26582469 2015
6
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. 61
25439098 2014
7
5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. 61
23950017 2013
8
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. 61
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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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