MCID: MNT226
MIFTS: 23

Mental Retardation, Autosomal Dominant 31

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 31

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 31:

Name: Mental Retardation, Autosomal Dominant 31 57 75 29 6 73
Mrd31 57 12 75
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to a Point Mutation 59 6
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome 59
Autosomal Dominant Non-Syndromic Intellectual Disability 31 12
Mental Retardation, Autosomal Dominant, Type 31 40
Autosomal Dominant Mental Retardation 31 12

Characteristics:

Orphanet epidemiological data:

59
pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Inheritance: Autosomal dominant,Not applicable;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation
onset at birth or early infancy


HPO:

32
mental retardation, autosomal dominant 31:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 31

UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal dominant 31: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD31 patients manifest neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay.

MalaCards based summary : Mental Retardation, Autosomal Dominant 31, also known as mrd31, is related to pura syndrome, and has symptoms including myoclonus and seizures. An important gene associated with Mental Retardation, Autosomal Dominant 31 is PURA (Purine Rich Element Binding Protein A). Related phenotypes are high palate and nystagmus

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PURA on chromosome 5q31.3.

Description from OMIM: 616158

Related Diseases for Mental Retardation, Autosomal Dominant 31

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Recessive 37
Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Recessive 40
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Dominant 29
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Recessive 47
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 42
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Recessive 56 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Recessive 58 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 48 Mental Retardation, Autosomal Dominant 49
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

Diseases related to Mental Retardation, Autosomal Dominant 31 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pura syndrome 11.6

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 31

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
telecanthus (in some patients)

Respiratory:
respiratory insufficiency

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia, neonatal

Neurologic Central Nervous System:
seizures
delayed myelination
hypomyelination
myoclonic jerks
delayed psychomotor development, severe
more
Head And Neck Face:
prominent forehead
myopathic facies

Head And Neck Mouth:
open mouth
high-arched palate

Endocrine Features:
gonadotropin-dependent precocious puberty (1 patient)


Clinical features from OMIM:

616158

Human phenotypes related to Mental Retardation, Autosomal Dominant 31:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 nystagmus 32 HP:0000639
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 respiratory insufficiency 32 HP:0002093
6 global developmental delay 32 HP:0001263
7 neonatal hypotonia 32 HP:0001319
8 prominent forehead 32 HP:0011220
9 feeding difficulties 32 HP:0011968
10 strabismus 32 HP:0000486
11 myoclonus 32 HP:0001336
12 absent speech 32 HP:0001344
13 telecanthus 32 occasional (7.5%) HP:0000506
14 open mouth 32 HP:0000194
15 myopathic facies 32 HP:0002058
16 cns hypomyelination 32 HP:0003429
17 broad-based gait 32 occasional (7.5%) HP:0002136
18 delayed myelination 32 HP:0012448

UMLS symptoms related to Mental Retardation, Autosomal Dominant 31:


myoclonus, seizures

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 31

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 31

Genetic Tests for Mental Retardation, Autosomal Dominant 31

Genetic tests related to Mental Retardation, Autosomal Dominant 31:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 31 29 PURA

Anatomical Context for Mental Retardation, Autosomal Dominant 31

Publications for Mental Retardation, Autosomal Dominant 31

Variations for Mental Retardation, Autosomal Dominant 31

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 31:

75
# Symbol AA change Variation ID SNP ID
1 PURA p.Ala89Pro VAR_072699 rs587782999
2 PURA p.Lys97Glu VAR_072700 rs587782994
3 PURA p.Leu100Pro VAR_072701 rs587782995
4 PURA p.Met157Lys VAR_072702 rs587782998
5 PURA p.Arg199Pro VAR_072703 rs587783001
6 PURA p.Ile206Phe VAR_073993 rs786204834

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 31:

6
(show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 PURA NM_005859.4(PURA): c.812_814delTCT (p.Phe271del) deletion Pathogenic rs587782991 GRCh38 Chromosome 5, 140114993: 140114995
2 PURA NM_005859.4(PURA): c.812_814delTCT (p.Phe271del) deletion Pathogenic rs587782991 GRCh37 Chromosome 5, 139494578: 139494580
3 PURA NM_005859.4(PURA): c.307_308delTC (p.Ser103Hisfs) deletion Pathogenic rs587782992 GRCh38 Chromosome 5, 140114488: 140114489
4 PURA NM_005859.4(PURA): c.307_308delTC (p.Ser103Hisfs) deletion Pathogenic rs587782992 GRCh37 Chromosome 5, 139494073: 139494074
5 PURA NM_005859.4(PURA): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs587782993 GRCh38 Chromosome 5, 140114737: 140114737
6 PURA NM_005859.4(PURA): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs587782993 GRCh37 Chromosome 5, 139494322: 139494322
7 PURA NM_005859.4(PURA): c.289A> G (p.Lys97Glu) single nucleotide variant Pathogenic rs587782994 GRCh38 Chromosome 5, 140114470: 140114470
8 PURA NM_005859.4(PURA): c.289A> G (p.Lys97Glu) single nucleotide variant Pathogenic rs587782994 GRCh37 Chromosome 5, 139494055: 139494055
9 PURA NM_005859.4(PURA): c.299T> C (p.Leu100Pro) single nucleotide variant Likely pathogenic rs587782995 GRCh37 Chromosome 5, 139494065: 139494065
10 PURA NM_005859.4(PURA): c.299T> C (p.Leu100Pro) single nucleotide variant Likely pathogenic rs587782995 GRCh38 Chromosome 5, 140114480: 140114480
11 PURA NM_005859.4(PURA): c.596G> C (p.Arg199Pro) single nucleotide variant Pathogenic rs587783001 GRCh38 Chromosome 5, 140114777: 140114777
12 PURA NM_005859.4(PURA): c.596G> C (p.Arg199Pro) single nucleotide variant Pathogenic rs587783001 GRCh37 Chromosome 5, 139494362: 139494362
13 PURA NM_005859.4(PURA): c.726_727delGT (p.Phe243Tyrfs) deletion Pathogenic rs786204833 GRCh38 Chromosome 5, 140114907: 140114908
14 PURA NM_005859.4(PURA): c.726_727delGT (p.Phe243Tyrfs) deletion Pathogenic rs786204833 GRCh37 Chromosome 5, 139494492: 139494493
15 PURA NM_005859.4(PURA): c.616A> T (p.Ile206Phe) single nucleotide variant Pathogenic rs786204834 GRCh37 Chromosome 5, 139494382: 139494382
16 PURA NM_005859.4(PURA): c.616A> T (p.Ile206Phe) single nucleotide variant Pathogenic rs786204834 GRCh38 Chromosome 5, 140114797: 140114797
17 PURA NM_005859.4(PURA): c.697_699delTTC (p.Phe233del) deletion Pathogenic rs786204835 GRCh37 Chromosome 5, 139494463: 139494465
18 PURA NM_005859.4(PURA): c.697_699delTTC (p.Phe233del) deletion Pathogenic rs786204835 GRCh38 Chromosome 5, 140114878: 140114880
19 PURA NM_005859.4(PURA): c.302_310delCTCTCTCCA (p.Thr101_Ser103del) deletion Pathogenic rs793888533 GRCh38 Chromosome 5, 140114483: 140114491
20 PURA NM_005859.4(PURA): c.302_310delCTCTCTCCA (p.Thr101_Ser103del) deletion Pathogenic rs793888533 GRCh37 Chromosome 5, 139494068: 139494076
21 PURA NM_005859.4(PURA): c.563T> C (p.Ile188Thr) single nucleotide variant Likely pathogenic rs793888527 GRCh38 Chromosome 5, 140114744: 140114744
22 PURA NM_005859.4(PURA): c.563T> C (p.Ile188Thr) single nucleotide variant Likely pathogenic rs793888527 GRCh37 Chromosome 5, 139494329: 139494329
23 PURA NM_005859.4(PURA): c.710C> T (p.Ser237Phe) single nucleotide variant Likely pathogenic rs886039899 GRCh37 Chromosome 5, 139494476: 139494476
24 PURA NM_005859.4(PURA): c.710C> T (p.Ser237Phe) single nucleotide variant Likely pathogenic rs886039899 GRCh38 Chromosome 5, 140114891: 140114891
25 PURA NM_005859.4(PURA): c.367C> T (p.Gln123Ter) single nucleotide variant Pathogenic rs886042229 GRCh37 Chromosome 5, 139494133: 139494133
26 PURA NM_005859.4(PURA): c.367C> T (p.Gln123Ter) single nucleotide variant Pathogenic rs886042229 GRCh38 Chromosome 5, 140114548: 140114548
27 PURA NM_005859.4(PURA): c.677_678delTG (p.Val226Glyfs) deletion Pathogenic rs1064796830 GRCh37 Chromosome 5, 139494443: 139494444
28 PURA NM_005859.4(PURA): c.677_678delTG (p.Val226Glyfs) deletion Pathogenic rs1064796830 GRCh38 Chromosome 5, 140114858: 140114859
29 PURA NM_005859.4(PURA): c.159dup (p.Leu54Alafs) duplication Pathogenic GRCh38 Chromosome 5, 140114340: 140114340
30 PURA NM_005859.4(PURA): c.159dup (p.Leu54Alafs) duplication Pathogenic GRCh37 Chromosome 5, 139493925: 139493925
31 PURA NM_005859.4(PURA): c.144_146dup (p.Gly49_Ala50insGly) duplication Uncertain significance rs754074166 GRCh38 Chromosome 5, 140114325: 140114327
32 PURA NM_005859.4(PURA): c.144_146dup (p.Gly49_Ala50insGly) duplication Uncertain significance rs754074166 GRCh37 Chromosome 5, 139493910: 139493912
33 PURA NM_005859.4(PURA): c.582G> T (p.Gly194=) single nucleotide variant Likely benign rs886603107 GRCh37 Chromosome 5, 139494348: 139494348
34 PURA NM_005859.4(PURA): c.582G> T (p.Gly194=) single nucleotide variant Likely benign rs886603107 GRCh38 Chromosome 5, 140114763: 140114763
35 PURA NM_005859.4(PURA): c.621C> T (p.Asp207=) single nucleotide variant Conflicting interpretations of pathogenicity rs142688247 GRCh37 Chromosome 5, 139494387: 139494387
36 PURA NM_005859.4(PURA): c.621C> T (p.Asp207=) single nucleotide variant Conflicting interpretations of pathogenicity rs142688247 GRCh38 Chromosome 5, 140114802: 140114802
37 PURA NM_005859.4(PURA): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 140114668: 140114668
38 PURA NM_005859.4(PURA): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 139494253: 139494253
39 PURA NM_005859.4(PURA): c.480G> A (p.Lys160=) single nucleotide variant Likely benign rs759194196 GRCh37 Chromosome 5, 139494246: 139494246
40 PURA NM_005859.4(PURA): c.480G> A (p.Lys160=) single nucleotide variant Likely benign rs759194196 GRCh38 Chromosome 5, 140114661: 140114661
41 PURA NM_005859.4(PURA): c.543C> T (p.Gly181=) single nucleotide variant Likely benign rs555886273 GRCh37 Chromosome 5, 139494309: 139494309
42 PURA NM_005859.4(PURA): c.543C> T (p.Gly181=) single nucleotide variant Likely benign rs555886273 GRCh38 Chromosome 5, 140114724: 140114724
43 PURA NM_005859.4(PURA): c.618C> T (p.Ile206=) single nucleotide variant Likely benign rs372391881 GRCh37 Chromosome 5, 139494384: 139494384
44 PURA NM_005859.4(PURA): c.618C> T (p.Ile206=) single nucleotide variant Likely benign rs372391881 GRCh38 Chromosome 5, 140114799: 140114799
45 PURA NM_005859.4(PURA): c.123_146del24 (p.Gly42_Gly49del) deletion Uncertain significance GRCh37 Chromosome 5, 139493889: 139493912
46 PURA NM_005859.4(PURA): c.123_146del24 (p.Gly42_Gly49del) deletion Uncertain significance GRCh38 Chromosome 5, 140114304: 140114327
47 PURA NM_005859.4(PURA): c.141C> T (p.Gly47=) single nucleotide variant Likely benign rs769972776 GRCh37 Chromosome 5, 139493907: 139493907
48 PURA NM_005859.4(PURA): c.141C> T (p.Gly47=) single nucleotide variant Likely benign rs769972776 GRCh38 Chromosome 5, 140114322: 140114322
49 PURA NM_005859.4(PURA): c.321C> T (p.Ala107=) single nucleotide variant Benign rs149139260 GRCh37 Chromosome 5, 139494087: 139494087
50 PURA NM_005859.4(PURA): c.321C> T (p.Ala107=) single nucleotide variant Benign rs149139260 GRCh38 Chromosome 5, 140114502: 140114502

Expression for Mental Retardation, Autosomal Dominant 31

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 31.

Pathways for Mental Retardation, Autosomal Dominant 31

GO Terms for Mental Retardation, Autosomal Dominant 31

Sources for Mental Retardation, Autosomal Dominant 31

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