MRT34
MCID: MNT283
MIFTS: 20

Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly (MRT34)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 34, with Variant...

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly:

Name: Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly 56 73
Mrt34 56 73
Mental Retardation, Autosomal Recessive 34 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
mental retardation, autosomal recessive 34, with variant lissencephaly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 34, with Variant...

UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal recessive 34, with variant lissencephaly: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT34 is a non-syndromic form. Affected individuals have mildly delayed development and significantly impaired cognitive function, precluding independent living and self-care. Speech is rudimentary, but articulate; autism is not present.

MalaCards based summary : Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly, is also known as mrt34. An important gene associated with Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly is CRADD (CASP2 And RIPK1 Domain Containing Adaptor With Death Domain). Affiliated tissues include cortex, brain and cerebellum, and related phenotypes are seizure and intellectual disability

OMIM : 56 MRT34 is an autosomal recessive neurologic disorder characterized by mild to moderate intellectual disability and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by Di Donato et al., 2016). (614499)

Related Diseases for Mental Retardation, Autosomal Recessive 34, with Variant...

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 34, with Variant...

Human phenotypes related to Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 delayed speech and language development 31 HP:0000750
4 pachygyria 31 HP:0001302
5 lissencephaly 31 HP:0001339
6 megalencephaly 31 HP:0001355
7 increased head circumference 31 HP:0040194

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
megalencephaly
increased head circumference

Neurologic Central Nervous System:
seizures (in some patients)
mental retardation, mild to moderate
delayed language development
thickened cortex
rudimentary speech
more

Clinical features from OMIM:

614499

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 34, with Variant...

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly

Genetic Tests for Mental Retardation, Autosomal Recessive 34, with Variant...

Anatomical Context for Mental Retardation, Autosomal Recessive 34, with Variant...

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly:

40
Cortex, Brain, Cerebellum

Publications for Mental Retardation, Autosomal Recessive 34, with Variant...

Articles related to Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly:

# Title Authors PMID Year
1
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. 6 56
27773430 2016
2
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 6 56
22279524 2012

Variations for Mental Retardation, Autosomal Recessive 34, with Variant...

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRADD NM_003805.5(CRADD):c.382G>C (p.Gly128Arg)SNV Pathogenic 30360 rs387906861 12:94243829-94243829 12:93850053-93850053
2 CRADD NM_003805.5(CRADD):c.508C>T (p.Arg170Cys)SNV Pathogenic 372190 rs749655461 12:94243955-94243955 12:93850179-93850179
3 CRADD NM_003805.5(CRADD):c.491T>G (p.Phe164Cys)SNV Pathogenic 372192 rs370916968 12:94243938-94243938 12:93850162-93850162
4 CRADD NM_003805.5(CRADD):c.509G>A (p.Arg170His)SNV Pathogenic/Likely pathogenic 372191 rs141179774 12:94243956-94243956 12:93850180-93850180

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly:

73
# Symbol AA change Variation ID SNP ID
1 CRADD p.Gly128Arg VAR_067536 rs387906861

Expression for Mental Retardation, Autosomal Recessive 34, with Variant...

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly.

Pathways for Mental Retardation, Autosomal Recessive 34, with Variant...

GO Terms for Mental Retardation, Autosomal Recessive 34, with Variant...

Sources for Mental Retardation, Autosomal Recessive 34, with Variant...

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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