MCID: MNT307
MIFTS: 24

Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

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

Aliases & Classifications for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

MalaCards integrated aliases for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe:

Name: Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 57 75
Mental Retardation, X-Linked, Fraxe Type 57 29 13 40
Fraxe Mental Retardation Syndrome 57 75
Intellectual Disability Associated with Fragile Site Fraxe 59
Mental Retardation X-Linked Fraxe Type 75
Fraxe Intellectual Disability 59
Fraxe Syndrome 73
Mrfraxe 75

Characteristics:

Orphanet epidemiological data:

59
fraxe intellectual disability
Inheritance: X-linked recessive;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
occurs in 1 in 50,000 newborn males


HPO:

32
mental retardation, x-linked, associated with fragile site fraxe:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

OMIM : 57 FRAXE mental retardation is a form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). FRAXE is associated with a fragile site on chromosome Xq28 and is the cause of nonsyndromic X-linked mental retardation in 1 of 50,000 newborn males. The disorder can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene (Stettner et al., 2011). (309548)

MalaCards based summary : Mental Retardation, X-Linked, Associated with Fragile Site Fraxe, also known as mental retardation, x-linked, fraxe type, is related to fragile x syndrome and boutonneuse fever, and has symptoms including agitation An important gene associated with Mental Retardation, X-Linked, Associated with Fragile Site Fraxe is AFF2 (AF4/FMR2 Family Member 2). Related phenotypes are epicanthus and prominent nasal bridge

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked, associated with fragile site FRAXE: A form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Related Diseases for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

Diseases related to Mental Retardation, X-Linked, Associated with Fragile Site Fraxe via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fragile x syndrome 31.0 AFF2 SERPINA1
2 boutonneuse fever 9.2 AFF2 SERPINA1
3 trehalase deficiency 8.9 AFF2 SERPINA1

Symptoms & Phenotypes for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
agitation
hyperactivity
impulsivity
autistic features
obsessive-compulsive disorder
more
Head And Neck Nose:
high nasal bridge

Head And Neck Ears:
protuberant ears

Head And Neck Eyes:
epicanthal folds

Neurologic Central Nervous System:
mental retardation, mild to moderate
speech delay
learning difficulties
communication defects

Head And Neck Face:
subtle dysmorphic features may be present


Clinical features from OMIM:

309548

Human phenotypes related to Mental Retardation, X-Linked, Associated with Fragile Site Fraxe:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 epicanthus 32 HP:0000286
2 prominent nasal bridge 32 HP:0000426
3 agitation 32 HP:0000713
4 aggressive behavior 32 HP:0000718
5 obsessive-compulsive behavior 32 HP:0000722
6 delayed speech and language development 32 HP:0000750
7 hyperactivity 32 HP:0000752
8 intellectual disability 32 HP:0001249
9 abnormality of metabolism/homeostasis 32 HP:0001939
10 impulsivity 32 HP:0100710

UMLS symptoms related to Mental Retardation, X-Linked, Associated with Fragile Site Fraxe:


agitation

Drugs & Therapeutics for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

Genetic Tests for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

Genetic tests related to Mental Retardation, X-Linked, Associated with Fragile Site Fraxe:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Fraxe Type 29

Anatomical Context for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

Publications for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

Articles related to Mental Retardation, X-Linked, Associated with Fragile Site Fraxe:

# Title Authors Year
1
Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability. ( 10331587 )
1999

Variations for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

ClinVar genetic disease variations for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AFF2 NM_001169122.1(AFF2): c.-460_-458GCC(6_25) NT expansion Pathogenic rs193922937 GRCh37 Chromosome X, 147582158: 147582160
2 AFF2 NM_001169122.1(AFF2): c.-460_-458GCC(6_25) NT expansion Pathogenic rs193922937 GRCh38 Chromosome X, 148500638: 148500640
3 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh37 Chromosome 14, 94844947: 94844947
4 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh38 Chromosome 14, 94378610: 94378610
5 AFF2 AFF2, 121- to 145-KB DEL deletion Pathogenic
6 AFF2 NM_001169124.1(AFF2): c.*4554C> G single nucleotide variant Uncertain significance rs864321652 GRCh37 Chromosome X, 148077416: 148077416
7 AFF2 NM_001169124.1(AFF2): c.*4554C> G single nucleotide variant Uncertain significance rs864321652 GRCh38 Chromosome X, 148995886: 148995886

Expression for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe.

Pathways for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

GO Terms for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

Sources for Mental Retardation, X-Linked, Associated with Fragile Site Fraxe

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
Content
Loading form....