MRT34
MCID: MNT283
MIFTS: 22

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 57 72 6
Mrt34 57 72
Mental Retardation, Autosomal Recessive 34 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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 : 72 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, cerebellum and brain, and related phenotypes are seizure and intellectual disability

OMIM® : 57 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) (Updated 05-Apr-2021)

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 megalencephaly 31 HP:0001355
4 delayed speech and language development 31 HP:0000750
5 pachygyria 31 HP:0001302
6 lissencephaly 31 HP:0001339
7 increased head circumference 31 HP:0040194

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
megalencephaly
increased head circumference

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

Clinical features from OMIM®:

614499 (Updated 05-Apr-2021)

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, Cerebellum, Brain

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. 57 6
27773430 2016
2
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 57 6
22279524 2012
3
CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies. 61
33647455 2021

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 Position
1 CRADD NM_003805.5(CRADD):c.382G>C (p.Gly128Arg) SNV Pathogenic 30360 rs387906861 GRCh37: 12:94243829-94243829
GRCh38: 12:93850053-93850053
2 CRADD NM_003805.5(CRADD):c.491T>G (p.Phe164Cys) SNV Pathogenic 372192 rs370916968 GRCh37: 12:94243938-94243938
GRCh38: 12:93850162-93850162
3 CRADD NM_003805.5(CRADD):c.508C>T (p.Arg170Cys) SNV Pathogenic 372190 rs749655461 GRCh37: 12:94243955-94243955
GRCh38: 12:93850179-93850179
4 CRADD NM_003805.5(CRADD):c.50del (p.Gly17fs) Deletion Pathogenic 998370 GRCh37: 12:94072598-94072598
GRCh38: 12:93678822-93678822
5 CRADD NM_003805.5(CRADD):c.509G>A (p.Arg170His) SNV Pathogenic/Likely pathogenic 372191 rs141179774 GRCh37: 12:94243956-94243956
GRCh38: 12:93850180-93850180
6 CRADD NM_003805.5(CRADD):c.-2A>G SNV Uncertain significance 1029755 GRCh37: 12:94072549-94072549
GRCh38: 12:93678773-93678773
7 CRADD NM_003805.5(CRADD):c.-6-7T>C SNV Uncertain significance 1029756 GRCh37: 12:94072538-94072538
GRCh38: 12:93678762-93678762
8 CRADD NM_003805.5(CRADD):c.497G>A (p.Arg166His) SNV Uncertain significance 434823 rs746685035 GRCh37: 12:94243944-94243944
GRCh38: 12:93850168-93850168
9 CRADD NM_003805.5(CRADD):c.316A>T (p.Ile106Phe) SNV Uncertain significance 1034028 GRCh37: 12:94243763-94243763
GRCh38: 12:93849987-93849987

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

72
# 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
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
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