MSeqDR Mitochondrial Disease Portal


 
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Arachnoid Cysts (D016080)
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Intellectual Disability (D008607)
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Lissencephaly (D054082)
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Seizures (D012640)
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PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617171)
..expandDysmyelination With Jaundice (C565610)
..expandGlycosylphosphatidylinositol deficiency (C537277)
..expandHyper-Beta-Alaninemia (C562684)
..expandHYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES (OMIM:614462)  LSDB  L: 00479;
..expandHyperleucine-Isoleucinemia (C562674)
..expandHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION (OMIM:616418)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
..expandMuller Barth Menger syndrome (C537370)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
..expandNEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
..expandOPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
..expandSeizures, Febrile (D003294) Child21
..expandSeSAME syndrome (C557674)
..expandStatus Epilepticus (D013226) Child1
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWHITE-SUTTON SYNDROME (OMIM:616364)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9381
Name:PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS
Definition:
Alternative IDs:
ParentIDs:MESH:D008607|MESH:D012640|MESH:D016080|MESH:D054082
TreeNumbers:C04.182.044/600176 |C04.588.614.250.387.100/600176 |C10.500.142.100/600176 |C10.500.507.450.499/600176 |C10.551.240.375.100/600176 |C10.597.606.360/600176 |C10.597.742/600176 |C16.131.666.142.100/600176 |C16.131.666.507.450.499/600176 |C23.888.592.604.646/600176 |
Synonyms:PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES
Slim Mappings:Cancer|Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: 600176
MeSH: 600176
OMIM: 600176;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000924Abnormality of the skeletal system
3 HP:0100702Arachnoid cyst
4 HP:0007270Atypical absence seizures
5 HP:0002069Generalized tonic-clonic seizures
6 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
7 HP:0001263Global developmental delay
NAMDC:  Mental retardation
8 HP:0001249Intellectual disability
9 HP:0001302Pachygyria
10 HP:0007069Profound static encephalopathy
Disease Causing ClinVar Variants
MSeqDR Portal