MCID: MNT283
MIFTS: 18

Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly

Categories: Genetic diseases, Neuronal diseases, Mental 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 75
Mrt34 57 75
Mental Retardation, Autosomal Recessive 34 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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 : 75 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 delayed speech and language development 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)

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
megalencephaly
increased head circumference

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

Clinical features from OMIM:

614499

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 HP:0000750
2 intellectual disability 32 HP:0001249
3 seizures 32 occasional (7.5%) HP:0001250
4 lissencephaly 32 HP:0001339
5 megalencephaly 32 HP:0001355
6 increased head circumference 32 HP:0040194

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:

41
Cortex, Brain, Cerebellum

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 CRADD p.Gly128Arg VAR_067536 rs387906861

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CRADD NM_003805.4(CRADD): c.382G> C (p.Gly128Arg) single nucleotide variant Pathogenic rs387906861 GRCh37 Chromosome 12, 94243829: 94243829
2 CRADD NM_003805.4(CRADD): c.382G> C (p.Gly128Arg) single nucleotide variant Pathogenic rs387906861 GRCh38 Chromosome 12, 93850053: 93850053
3 CRADD NM_003805.4(CRADD): c.508C> T (p.Arg170Cys) single nucleotide variant Pathogenic rs749655461 GRCh37 Chromosome 12, 94243955: 94243955
4 CRADD NM_003805.4(CRADD): c.508C> T (p.Arg170Cys) single nucleotide variant Pathogenic rs749655461 GRCh38 Chromosome 12, 93850179: 93850179
5 CRADD NM_003805.4(CRADD): c.509G> A (p.Arg170His) single nucleotide variant Pathogenic rs141179774 GRCh37 Chromosome 12, 94243956: 94243956
6 CRADD NM_003805.4(CRADD): c.509G> A (p.Arg170His) single nucleotide variant Pathogenic rs141179774 GRCh38 Chromosome 12, 93850180: 93850180
7 CRADD NM_003805.4(CRADD): c.491T> G (p.Phe164Cys) single nucleotide variant Pathogenic rs370916968 GRCh38 Chromosome 12, 93850162: 93850162
8 CRADD NM_003805.4(CRADD): c.491T> G (p.Phe164Cys) single nucleotide variant Pathogenic rs370916968 GRCh37 Chromosome 12, 94243938: 94243938

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...

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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31 HMDB
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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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