MCID: MNT107
MIFTS: 14

Mental Retardation, Fra12a Type

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Mental Retardation, Fra12a Type

MalaCards integrated aliases for Mental Retardation, Fra12a Type:

Name: Mental Retardation, Fra12a Type 57 29 13 6 40
Fra12a Mental Retardation 37

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

32
mental retardation, fra12a type:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


Classifications:



Summaries for Mental Retardation, Fra12a Type

OMIM : 57 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). Related phenotypes are intellectual disability and seizures

Related Diseases for Mental Retardation, Fra12a Type

Symptoms & Phenotypes for Mental Retardation, Fra12a Type

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
bullous ichthyosiform erythroderma (in 1 patient)
hyperkeratosis (in 1 patient)

Neurologic Behavioral Psychiatric Manifestations:
behavior problems

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


Clinical features from OMIM:

136630

Human phenotypes related to Mental Retardation, Fra12a Type:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250
3 hyperkeratosis 32 HP:0000962

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

Publications for Mental Retardation, Fra12a Type

Variations for Mental Retardation, Fra12a Type

ClinVar genetic disease variations for Mental Retardation, Fra12a Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DIP2B fragile site, folic acid type, rare, fra(12)(q13.1) NT expansion Pathogenic GRCh37 Chromosome 12, 50898787: 50898807

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 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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