MCID: MNT107
MIFTS: 20

Mental Retardation, Fra12a Type

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Mental Retardation, Fra12a Type

MalaCards integrated aliases for Mental Retardation, Fra12a Type:

Name: Mental Retardation, Fra12a Type 56 29 13 6 39
Fra12a Mental Retardation 36

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

31
mental retardation, fra12a type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Fra12a Type

OMIM : 56 FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. No consistent phenotype has been observed with FRA12A, and it can be inherited without phenotypic effect (Berg et al., 2000). However, mental retardation with or without other anomalies has been described in patients with over 40% of cells expressing FRA12A (Winnepenninckx et al., 2007). (136630)

MalaCards based summary : Mental Retardation, Fra12a Type, is also known as fra12a mental retardation. An important gene associated with Mental Retardation, Fra12a Type is DIP2B (Disco Interacting Protein 2 Homolog B). Affiliated tissues include brain, and related phenotypes are seizure and intellectual disability

KEGG : 36 FRA12A mental retardation is a rare form of mental retardation caused by expansion of CGG repeat. This repeat is in the 5' untranslated region of the gene DIP2B. It has been suggested that deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A.

Related Diseases for Mental Retardation, Fra12a Type

Symptoms & Phenotypes for Mental Retardation, Fra12a Type

Human phenotypes related to Mental Retardation, Fra12a Type:

31
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 hyperkeratosis 31 HP:0000962

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
mental retardation
seizures (in some patients)
learning disabilities
global delay

Neurologic Behavioral Psychiatric Manifestations:
behavior problems

Skin Nails Hair Skin:
bullous ichthyosiform erythroderma (in 1 patient)
hyperkeratosis (in 1 patient)

Clinical features from OMIM:

136630

Drugs & Therapeutics for Mental Retardation, Fra12a Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Fra12a Type

Genetic Tests for Mental Retardation, Fra12a Type

Genetic tests related to Mental Retardation, Fra12a Type:

# Genetic test Affiliating Genes
1 Mental Retardation, Fra12a Type 29 DIP2B

Anatomical Context for Mental Retardation, Fra12a Type

MalaCards organs/tissues related to Mental Retardation, Fra12a Type:

40
Brain

Publications for Mental Retardation, Fra12a Type

Articles related to Mental Retardation, Fra12a Type:

# Title Authors PMID Year
1
CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. 56 6
17236128 2007
2
Bullous ichthyosiform erythroderma, developmental delay, aortic and pulmonary stenosis in association with a FRA12A. 56
10955484 2000
3
A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently. 56
3742859 1986
4
Heritable fragility at 11q13 and 12q13. 56
4042396 1985
5
Heritable fragile sites on human chromosomes. VI. Characterization of the fragile site at 12q13. 56
7194847 1981
6
Constitutional chromosomal breakage. 56
1033912 1976
7
Chromatin remodeling in the noncoding repeat expansion diseases. 61
18957431 2009

Variations for Mental Retardation, Fra12a Type

ClinVar genetic disease variations for Mental Retardation, Fra12a Type:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DIP2B fragile site, folic acid type, rare, fra(12)(q13.1)NT expansion Pathogenic 970 12:50898787-50898807
2 TECPR2 NM_014844.5(TECPR2):c.53A>G (p.Tyr18Cys)SNV Uncertain significance 408913 rs150645913 14:102843111-102843111 14:102376774-102376774
3 DIP2B NM_173602.3(DIP2B):c.4483G>A (p.Val1495Met)SNV Uncertain significance 634640 rs749017384 12:51138374-51138374 12:50744591-50744591

Expression for Mental Retardation, Fra12a Type

Search GEO for disease gene expression data for Mental Retardation, Fra12a Type.

Pathways for Mental Retardation, Fra12a Type

GO Terms for Mental Retardation, Fra12a Type

Sources for Mental Retardation, Fra12a Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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