MCID: PCH018
MIFTS: 17

Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

MalaCards integrated aliases for Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts:

Name: Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 56
Kuzniecky Syndrome 58 71
Pachygyria-Intellectual Disability-Epilepsy Syndrome 58
Pachygyria with Mental Retardation and Seizures 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
two families have been reported (as of may 2011)


HPO:

31
pachygyria with mental retardation, seizures, and arachnoid cysts:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 600176
ICD10 via Orphanet 33 G40.4
UMLS via Orphanet 72 C1838491
Orphanet 58 ORPHA2798
MedGen 41 C1838491
UMLS 71 C1838491

Summaries for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

OMIM : 56 This autosomal recessive neurodevelopmental disorder is characterized by pachygyria, mental retardation, seizures, and diffuse localization of arachnoid cysts. It most likely represents a neuronal migration disorder within the lissencephaly spectrum (summary by Guzel et al., 2007). (600176)

MalaCards based summary : Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts, also known as kuzniecky syndrome, is related to pachygyria-intellectual disability-epilepsy syndrome, and has symptoms including seizures Affiliated tissues include cortex, and related phenotypes are global developmental delay and intellectual disability

Related Diseases for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

Diseases related to Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pachygyria-intellectual disability-epilepsy syndrome 12.7

Symptoms & Phenotypes for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

Human phenotypes related to Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
2 intellectual disability 31 HP:0001249
3 seizures 58 Very frequent (99-80%)
4 intellectual disability, severe 58 Very frequent (99-80%)
5 abnormality of the skeletal system 31 HP:0000924
6 premature birth 58 Frequent (79-30%)
7 pachygyria 31 HP:0001302
8 arachnoid cyst 31 HP:0100702
9 atypical absence seizure 31 HP:0007270
10 profound static encephalopathy 31 HP:0007069
11 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
pachygyria
mental retardation
delayed psychomotor development
arachnoid cysts
more

Clinical features from OMIM:

600176

UMLS symptoms related to Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts:


seizures

Drugs & Therapeutics for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

Search Clinical Trials , NIH Clinical Center for Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts

Genetic Tests for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

Anatomical Context for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

MalaCards organs/tissues related to Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts:

40
Cortex

Publications for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

Articles related to Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts:

# Title Authors PMID Year
1
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. 56
19876906 2009
2
Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. 56
17343267 2007
3
Familial diffuse cortical dysplasia. 56
8129645 1994
4
Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. 56
8094839 1993
5
Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients. 56
1922811 1991

Variations for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

Expression for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

Search GEO for disease gene expression data for Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts.

Pathways for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

GO Terms for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

Sources for Pachygyria with Mental Retardation, Seizures, and Arachnoid...

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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