MRXSN
MCID: MNT056
MIFTS: 30

Mental Retardation, X-Linked, Syndromic, Nascimento Type (MRXSN)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Nascimento Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Nascimento Type:

Name: Mental Retardation, X-Linked, Syndromic, Nascimento Type 57 70
Mental Retardation, X-Linked Syndromic, Nascimento-Type 57 13 39
Syndromic Mental Retardation, Nascimento Type, X-Linked 29 6
Mrxs30 57 72
Mrxsn 57 72
X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome 58
Mental Retardation, X-Linked, Syndromic, Nascimento-Type 72
Mental Retardation, X-Linked, Syndromic 30; Mrxs30 57
X-Linked Intellectual Disability, Nascimento Type 58
Mental Retardation, X-Linked, Syndromic 30 57
Mental Retardation X-Linked Syndromic 30 72

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, nascimento type
Inheritance: X-linked recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive


HPO:

31
mental retardation, x-linked, syndromic, nascimento type:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked, Syndromic, Nascimento Type

OMIM® : 57 The Nascimento type of X-linked syndromic mental retardation is characterized by dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy. Female carriers have normal cognition, but may show subtle facial features (summary by Budny et al., 2010). (300860) (Updated 05-Apr-2021)

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Nascimento Type, also known as mental retardation, x-linked syndromic, nascimento-type, is related to syndromic x-linked intellectual disability nascimento type, and has symptoms including seizures and dry skin. An important gene associated with Mental Retardation, X-Linked, Syndromic, Nascimento Type is UBE2A (Ubiquitin Conjugating Enzyme E2 A). Affiliated tissues include pons, eye and brain, and related phenotypes are dry skin and wide mouth

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked, syndromic, Nascimento-type: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures.

Related Diseases for Mental Retardation, X-Linked, Syndromic, Nascimento Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Nascimento Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability nascimento type 11.5

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Nascimento Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Nascimento Type:

58 31 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
2 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
3 delayed gross motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0002194
4 poor speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002465
5 low hanging columella 58 31 hallmark (90%) Very frequent (99-80%) HP:0009765
6 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
7 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
8 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
9 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
10 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
11 broad neck 58 31 frequent (33%) Frequent (79-30%) HP:0000475
12 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
13 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
14 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
15 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
16 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
17 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
18 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
19 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
20 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
21 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
22 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
23 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
24 echolalia 58 31 frequent (33%) Frequent (79-30%) HP:0010529
25 neonatal hyperbilirubinemia 58 31 frequent (33%) Frequent (79-30%) HP:0003265
26 chronic constipation 58 31 frequent (33%) Frequent (79-30%) HP:0012450
27 hypointensity of cerebral white matter on mri 58 31 frequent (33%) Frequent (79-30%) HP:0007103
28 seizure 31 frequent (33%) HP:0001250
29 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
30 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
31 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
32 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
33 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
34 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
35 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
36 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
37 deep philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002002
38 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
39 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
40 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
41 peripheral pulmonary artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004969
42 neutropenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001875
43 recurrent cutaneous abscess formation 58 31 occasional (7.5%) Occasional (29-5%) HP:0100838
44 clubbing of toes 58 31 occasional (7.5%) Occasional (29-5%) HP:0100760
45 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
46 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
47 underdeveloped nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000430
48 preauricular pit 58 31 occasional (7.5%) Occasional (29-5%) HP:0004467
49 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
50 bilateral talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001776

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
mental retardation
lack of speech or poor speech
white matter hypodensities on brain imaging

Skin Nails Hair Skin:
dry skin
hypopigmented spots (less common)

Head And Neck Eyes:
synophrys
deep-set eyes
upslanting palpebral fissures
almond-shaped eyes

Skeletal Feet:
flat feet
small feet
broad first toe

Chest Breasts:
widely spaced nipples

Head And Neck Mouth:
large mouth
downturned corners of the mouth
thin lips

Head And Neck Head:
large head

Head And Neck Neck:
short, broad neck

Head And Neck Face:
prominent supraorbital ridges
midface hypoplasia
wide face

Skin Nails Hair Hair:
low posterior hairline
synophrys
hirsutism, generalized
hair whorls

Neurologic Behavioral Psychiatric Manifestations:
echolalia
aggression

Head And Neck Nose:
low nasal bridge

Skin Nails Hair Nails:
onychodystrophy

Genitourinary External Genitalia Male:
small penis

Growth Weight:
increased weight

Muscle Soft Tissue:
myxedematous appearance

Clinical features from OMIM®:

300860 (Updated 05-Apr-2021)

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic, Nascimento Type:


seizures; dry skin

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Nascimento Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Nascimento Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Nascimento Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Nascimento Type:

# Genetic test Affiliating Genes
1 Syndromic Mental Retardation, Nascimento Type, X-Linked 29 UBE2A

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Nascimento Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Nascimento Type:

40
Pons, Eye, Brain, Skin

Publications for Mental Retardation, X-Linked, Syndromic, Nascimento Type

Articles related to Mental Retardation, X-Linked, Syndromic, Nascimento Type:

# Title Authors PMID Year
1
Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. 57 6
20412111 2010
2
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. 57 6
16909393 2006
3
UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. 57
21108393 2010

Variations for Mental Retardation, X-Linked, Syndromic, Nascimento Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Nascimento Type:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UBE2A NM_003336.4(UBE2A):c.382C>T (p.Gln128Ter) SNV Pathogenic 9922 rs104894952 GRCh37: X:118717141-118717141
GRCh38: X:119583178-119583178
2 UBE2A UBE2A, GLY23ARG SNV Pathogenic 29992 GRCh37:
GRCh38:
3 UBE2A NM_003336.4(UBE2A):c.32G>A (p.Arg11Gln) SNV Pathogenic 29993 rs387906728 GRCh37: X:118708706-118708706
GRCh38: X:119574743-119574743
4 UBE2A NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg) SNV Pathogenic 437188 rs1556235551 GRCh37: X:118708886-118708886
GRCh38: X:119574923-119574923
5 UBE2A GRCh37/hg19 Xq24(chrX:118714474-118718137) copy number loss Pathogenic 625798 GRCh37: X:118714474-118718137
GRCh38:
6 UBE2A NM_003336.4(UBE2A):c.330+1G>A SNV Likely pathogenic 976781 GRCh37: X:118716640-118716640
GRCh38: X:119582677-119582677
7 UBE2A NM_003336.4(UBE2A):c.373del (p.Gln125fs) Deletion Likely pathogenic 559652 rs1556244406 GRCh37: X:118717131-118717131
GRCh38: X:119583168-119583168
8 UBE2A NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del) Deletion Likely pathogenic 804078 rs1603308066 GRCh37: X:118708704-118708715
GRCh38: X:119574741-119574752
9 UBE2A NC_000023.11:g.119582645_119582647ATG[1] Microsatellite Likely pathogenic 915473 GRCh37: X:118716608-118716610
GRCh38: X:119582645-119582647
10 UBE2A NM_003336.4(UBE2A):c.242-3_244del Deletion Likely pathogenic 915474 GRCh37: X:118716545-118716550
GRCh38: X:119582582-119582587
11 UBE2A NM_003336.4(UBE2A):c.184G>A (p.Glu62Lys) SNV Uncertain significance 915475 GRCh37: X:118715502-118715502
GRCh38: X:119581539-119581539
12 UBE2A NM_003336.4(UBE2A):c.283C>T (p.Arg95Cys) SNV Uncertain significance 915476 GRCh37: X:118716592-118716592
GRCh38: X:119582629-119582629
13 UBE2A NM_003336.4(UBE2A):c.295A>G (p.Thr99Ala) SNV Uncertain significance 915472 GRCh37: X:118716604-118716604
GRCh38: X:119582641-119582641
14 UBE2A NM_003336.4(UBE2A):c.403C>T (p.Arg135Trp) SNV Uncertain significance 589444 rs767224681 GRCh37: X:118717162-118717162
GRCh38: X:119583199-119583199

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Nascimento Type:

72
# Symbol AA change Variation ID SNP ID
1 UBE2A p.Arg11Gln VAR_066627 rs387906728
2 UBE2A p.Gly23Arg VAR_066628 rs155623555

Expression for Mental Retardation, X-Linked, Syndromic, Nascimento Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Nascimento Type.

Pathways for Mental Retardation, X-Linked, Syndromic, Nascimento Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Nascimento Type

Sources for Mental Retardation, X-Linked, Syndromic, Nascimento Type

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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