MRXSN
MCID: MNT056
MIFTS: 25

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 73
Mental Retardation, X-Linked Syndromic, Nascimento-Type 57 13 40
Syndromic Mental Retardation, Nascimento Type, X-Linked 29 6
Mrxs30 57 75
Mrxsn 57 75
X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome 59
Mental Retardation, X-Linked, Syndromic, Nascimento-Type 75
Mental Retardation, X-Linked, Syndromic 30; Mrxs30 57
X-Linked Intellectual Disability, Nascimento Type 59
Mental Retardation, X-Linked, Syndromic 30 57
Mental Retardation X-Linked Syndromic 30 75

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability, nascimento type
Inheritance: X-linked recessive;

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
mental retardation, x-linked, syndromic, nascimento type:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
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)

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 eye, skin and brain, and related phenotypes are macrocephaly and malar flattening

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 malar flattening 32 HP:0000272
3 short neck 32 HP:0000470
4 intellectual disability 32 HP:0001249
5 seizures 32 HP:0001250
6 prominent supraorbital ridges 32 HP:0000336
7 depressed nasal bridge 32 HP:0005280
8 pes planus 32 HP:0001763
9 nail dystrophy 32 HP:0008404
10 short foot 32 HP:0001773
11 dry skin 32 HP:0000958
12 wide intermamillary distance 32 HP:0006610
13 broad neck 32 HP:0000475
14 low posterior hairline 32 HP:0002162
15 wide mouth 32 HP:0000154
16 deeply set eye 32 HP:0000490
17 aggressive behavior 32 HP:0000718
18 upslanted palpebral fissure 32 HP:0000582
19 downturned corners of mouth 32 HP:0002714
20 increased body weight 32 HP:0004324
21 midface retrusion 32 HP:0011800
22 nail dysplasia 32 HP:0002164
23 thin vermilion border 32 HP:0000233
24 synophrys 32 HP:0000664
25 micropenis 32 HP:0000054
26 almond-shaped palpebral fissure 32 HP:0007874
27 hypointensity of cerebral white matter on mri 32 HP:0007103
28 abnormal hair whorl 32 HP:0010721
29 hirsutism 32 HP:0001007
30 echolalia 32 HP:0010529
31 poor speech 32 HP:0002465
32 broad hallux 32 HP:0010055
33 regional abnormality of skin 32 HP:0011356
34 spotty hypopigmentation 32 occasional (7.5%) HP:0005590
35 broad face 32 HP:0000283

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:

41
Eye, Skin, Brain

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 UBE2A p.Arg11Gln VAR_066627 rs387906728
2 UBE2A p.Gly23Arg VAR_066628

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UBE2A NM_003336.3(UBE2A): c.382C> T (p.Gln128Ter) single nucleotide variant Pathogenic rs104894952 GRCh37 Chromosome X, 118717141: 118717141
2 UBE2A NM_003336.3(UBE2A): c.382C> T (p.Gln128Ter) single nucleotide variant Pathogenic rs104894952 GRCh38 Chromosome X, 119583178: 119583178
3 UBE2A UBE2A, GLY23ARG single nucleotide variant Pathogenic
4 UBE2A NM_003336.3(UBE2A): c.32G> A (p.Arg11Gln) single nucleotide variant Pathogenic rs387906728 GRCh37 Chromosome X, 118708706: 118708706
5 UBE2A NM_003336.3(UBE2A): c.32G> A (p.Arg11Gln) single nucleotide variant Pathogenic rs387906728 GRCh38 Chromosome X, 119574743: 119574743
6 UBE2A NM_003336.3(UBE2A): c.67G> A (p.Gly23Arg) single nucleotide variant Pathogenic GRCh37 Chromosome X, 118708886: 118708886
7 UBE2A NM_003336.3(UBE2A): c.67G> A (p.Gly23Arg) single nucleotide variant Pathogenic GRCh38 Chromosome X, 119574923: 119574923
8 UBE2A NM_003336.3(UBE2A): c.373del (p.Gln125Argfs) deletion Likely pathogenic GRCh37 Chromosome X, 118717132: 118717132
9 UBE2A NM_003336.3(UBE2A): c.373del (p.Gln125Argfs) deletion Likely pathogenic GRCh38 Chromosome X, 119583169: 119583169

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 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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