MCID: MNT068
MIFTS: 22

Mental Retardation, X-Linked, Fraxe Type

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

Aliases & Classifications for Mental Retardation, X-Linked, Fraxe Type

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

Name: Mental Retardation, X-Linked, Fraxe Type 54 29 13
Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 71
Intellectual Disability Associated with Fragile Site Fraxe 56
Mental Retardation X-Linked Fraxe Type 71
Fraxe Mental Retardation Syndrome 71
Fraxe Intellectual Disability 56
Fraxe Syndrome 69
Mrfraxe 71

Characteristics:

Orphanet epidemiological data:

56
fraxe intellectual disability
Inheritance: X-linked recessive;

OMIM:

54
Inheritance:
x-linked recessive

Miscellaneous:
occurs in 1 in 50,000 newborn males


HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked, Fraxe Type

OMIM : 54
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, Fraxe Type, also known as mental retardation, x-linked, associated with fragile site fraxe, is related to fragile x syndrome and premature ovarian failure 1, and has symptoms including intellectual disability, hyperactivity and aggressive behavior. An important gene associated with Mental Retardation, X-Linked, Fraxe Type is AFF2 (AF4/FMR2 Family Member 2).

UniProtKB/Swiss-Prot : 71 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, Fraxe Type

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

id Related Disease Score Top Affiliating Genes
1 fragile x syndrome 11.2
2 premature ovarian failure 1 9.7 AFF2 SERPINA1
3 de quervain disease 9.4 AFF2 SERPINA1
4 bornholm eye disease 8.8 AFF2 FMR3 SERPINA1

Symptoms & Phenotypes for Mental Retardation, X-Linked, Fraxe Type

Symptoms via clinical synopsis from OMIM:

54

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

Head And Neck- Nose:
high nasal bridge

Head And Neck- Face:
subtle dysmorphic features may be present

Head And Neck- Eyes:
epicanthal folds

Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity
aggression
autistic features
agitation
hand-flapping
more
Head And Neck- Ears:
protuberant ears


Clinical features from OMIM:

309548

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

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

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


agitation

Drugs & Therapeutics for Mental Retardation, X-Linked, Fraxe Type

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

Genetic Tests for Mental Retardation, X-Linked, Fraxe Type

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

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

Anatomical Context for Mental Retardation, X-Linked, Fraxe Type

Publications for Mental Retardation, X-Linked, Fraxe Type

Variations for Mental Retardation, X-Linked, Fraxe Type

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

6
id 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 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh37 Chromosome 14, 94844947: 94844947
3 AFF2 AFF2, 121- to 145-KB DEL deletion Pathogenic

Expression for Mental Retardation, X-Linked, Fraxe Type

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

Pathways for Mental Retardation, X-Linked, Fraxe Type

GO Terms for Mental Retardation, X-Linked, Fraxe Type

Sources for Mental Retardation, X-Linked, Fraxe Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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