MRFRAXE
MCID: MNT307
MIFTS: 29

Mental Retardation, X-Linked, Associated with Fragile Site Fraxe (MRFRAXE)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 72
Mental Retardation, X-Linked, Fraxe Type 57 29 13 39
Fraxe Mental Retardation Syndrome 57 72 6
Intellectual Disability Associated with Fragile Site Fraxe 58
Mental Retardation X-Linked Fraxe Type 72
Fraxe Intellectual Disability 58
Fraxe Syndrome 70
Mrfraxe 72

Characteristics:

Orphanet epidemiological data:

58
fraxe intellectual disability
Inheritance: X-linked recessive;

OMIM®:

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

Miscellaneous:
occurs in 1 in 50,000 newborn males


HPO:

31
mental retardation, x-linked, associated with fragile site fraxe:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 309548
OMIM Phenotypic Series 57 PS309510
MeSH 44 D038901
Orphanet 58 ORPHA100973
UMLS 70 C0751157

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) (Updated 05-Apr-2021)

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 alacrima, achalasia, and mental retardation syndrome, 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 intellectual disability and delayed speech and language development

UniProtKB/Swiss-Prot : 72 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 31.4 SERPINA1 FRAXE AFF2
2 alacrima, achalasia, and mental retardation syndrome 10.1
3 leukemia 10.1
4 boutonneuse fever 9.6 SERPINA1 AFF2

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

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

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 Frequent (79-30%) HP:0001249
2 delayed speech and language development 58 31 Frequent (79-30%) HP:0000750
3 epicanthus 58 31 Frequent (79-30%) HP:0000286
4 obsessive-compulsive behavior 58 31 Frequent (79-30%) HP:0000722
5 prominent nasal bridge 58 31 Frequent (79-30%) HP:0000426
6 aggressive behavior 58 31 Frequent (79-30%) HP:0000718
7 hyperactivity 58 31 Frequent (79-30%) HP:0000752
8 impulsivity 58 31 Frequent (79-30%) HP:0100710
9 agitation 58 31 Frequent (79-30%) HP:0000713
10 macrocephaly 58 Occasional (29-5%)
11 thick vermilion border 58 Frequent (79-30%)
12 short stature 58 Frequent (79-30%)
13 intrauterine growth retardation 58 Frequent (79-30%)
14 specific learning disability 58 Frequent (79-30%)
15 clinodactyly of the 5th finger 58 Occasional (29-5%)
16 hoarse voice 58 Frequent (79-30%)
17 abnormality of metabolism/homeostasis 31 HP:0001939
18 clumsiness 58 Frequent (79-30%)
19 autistic behavior 58 Frequent (79-30%)
20 stereotypical body rocking 58 Occasional (29-5%)
21 recurrent hand flapping 58 Frequent (79-30%)
22 prominent ear helix 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
impulsivity
agitation
autistic features
aggression
more
Head And Neck Nose:
high nasal bridge

Head And Neck Ears:
protuberant ears

Head And Neck Eyes:
epicanthal folds

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

Head And Neck Face:
subtle dysmorphic features may be present

Clinical features from OMIM®:

309548 (Updated 05-Apr-2021)

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:

(show all 21)
# Title Authors PMID Year
1
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. 57 6
21739600 2011
2
Identification of the gene FMR2, associated with FRAXE mental retardation. 6 57
8673085 1996
3
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. 6 57
8334699 1993
4
FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. 57
19136466 2009
5
Cytogenetic analysis of obsessive-compulsive disorder (OCD): identification of a FRAXE fragile site. 57
12605436 2003
6
Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect? 57
11438994 2001
7
Microdeletions in FMR2 may be a significant cause of premature ovarian failure. 57
10528856 1999
8
Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families. 57
9475603 1998
9
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation. 57
9341861 1997
10
Clinical, cytogenetic, and molecular analysis of three families with FRAXE. 57
9032643 1997
11
FRAXE testing. 57
8900249 1996
12
The FRAXE Syndrome: is it time for routine screening? 57
8651273 1996
13
A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. 57
8651274 1996
14
FRAXE expansion is not a common etiological factor among developmentally delayed males. 57
7541938 1995
15
Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. 57
7536393 1995
16
FRAXE and mental retardation. 57
7783162 1995
17
Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. 57
8023854 1994
18
The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE. 57
8499907 1993
19
Characterisation of a new rare fragile site easily confused with the fragile X. 57
1301146 1992
20
The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling. 61
17135274 2007
21
FMR2 function: insight from a mouse knockout model. 61
14526173 2003

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 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AFF2 AFF2, 121- to 145-KB DEL Deletion Pathogenic 29983 GRCh37:
GRCh38:
2 AFF2 , FRAXE NM_001169122.1(AFF2):c.-460_-458GCC(6_25) Microsatellite Pathogenic 10526 GRCh37: X:147582158-147582160
GRCh38: X:148500638-148500640
3 AFF2 NM_002025.4(AFF2):c.3448G>T (p.Asp1150Tyr) SNV Pathogenic 975105 GRCh37: X:148059506-148059506
GRCh38: X:148977976-148977976
4 AFF2 GRCh37/hg19 Xq28(chrX:147642893-147870805) copy number loss Pathogenic 625801 GRCh37: X:147642893-147870805
GRCh38:
5 SERPINA1 NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) SNV Pathogenic 17967 rs28929474 GRCh37: 14:94844947-94844947
GRCh38: 14:94378610-94378610
6 AFF2 NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) SNV Uncertain significance 94027 rs149653283 GRCh37: X:148048494-148048494
GRCh38: X:148966964-148966964
7 AFF2 NM_002025.4(AFF2):c.1173G>A (p.Gln391=) SNV Uncertain significance 489209 rs929635504 GRCh37: X:147919257-147919257
GRCh38: X:148837733-148837733
8 AFF2 NM_002025.4(AFF2):c.1467A>T (p.Glu489Asp) SNV Uncertain significance 1029402 GRCh37: X:148035179-148035179
GRCh38: X:148953649-148953649
9 AFF2 NM_002025.4(AFF2):c.3010A>T (p.Thr1004Ser) SNV Uncertain significance 1029403 GRCh37: X:148048416-148048416
GRCh38: X:148966886-148966886
10 AFF2 NM_002025.4(AFF2):c.3267+5G>A SNV Uncertain significance 431909 rs374064624 GRCh37: X:148049227-148049227
GRCh38: X:148967697-148967697
11 AFF2 NM_002025.4(AFF2):c.*4554C>G SNV Uncertain significance 219173 rs864321652 GRCh37: X:148077416-148077416
GRCh38: X:148995886-148995886
12 AFF2 NM_002025.4(AFF2):c.2558G>A (p.Arg853His) SNV Uncertain significance 982732 GRCh37: X:148038133-148038133
GRCh38: X:148956603-148956603
13 AFF2 NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe) SNV Uncertain significance 128283 rs200450195 GRCh37: X:148037405-148037405
GRCh38: X:148955875-148955875
14 AFF2 NM_002025.4(AFF2):c.1842G>T (p.Leu614Phe) SNV Uncertain significance 281219 rs371160275 GRCh37: X:148037417-148037417
GRCh38: X:148955887-148955887
15 AFF2 NM_002025.4(AFF2):c.2914-15C>A SNV Uncertain significance 930497 GRCh37: X:148048305-148048305
GRCh38: X:148966775-148966775
16 AFF2 NM_002025.4(AFF2):c.1834C>G (p.His612Asp) SNV Likely benign 804093 rs376847375 GRCh37: X:148037409-148037409
GRCh38: X:148955879-148955879
17 AFF2 NM_002025.4(AFF2):c.2780G>A (p.Arg927His) SNV Likely benign 194202 rs140927355 GRCh37: X:148044334-148044334
GRCh38: X:148962804-148962804

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 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
Content
Loading form....