PedAM

Pediatric Disease Annotations & Medicines


	schizencephaly

Disease ID	72
Disease	schizencephaly
Definition	A rare developmental abnormality characterized by the presence of clefs in the cerebral hemispheres. The abnormality may involve one or both cerebral hemispheres. Signs and symptoms include developmental delays, mental retardation, paralysis, presence of a small head, and seizures.
Synonym	cleft, schizencephalic clefts, schizencephalic cyst, schizencephalic cysts, schizencephalic schizencephalic cleft schizencephalic clefts schizencephalic cyst schizencephalic cysts schizencephalic porencephaly schizencephalies schizencephaly (disorder) schizencephaly [disease/finding]
Orphanet	ORPHANET:799
OMIM	OMIM:269160
UMLS	C0266484
MeSH	D065707
SNOMED-CT	SNOMEDCT_US_2016_09_01:253159001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0014544 \| epilepsy \| 5 C0033975 \| psychosis \| 2 C0338596 \| spastic cerebral palsy \| 1 C0005586 \| bipolar disorder \| 1 C1096063 \| intractable epilepsy \| 1 C0265202 \| seckel syndrome \| 1 C0028768 \| obsessive-compulsive disorder \| 1 C0042769 \| virus infection \| 1 C0014547 \| partial epilepsy \| 1 C0398791 \| nijmegen breakage syndrome \| 1 C0025362 \| mental retardation \| 1 C0007789 \| cerebral palsy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) SIX3 \| 6496 \| CLINVAR;ORPHANET;UNIPROT COL4A1 \| 1282 \| CLINVAR;ORPHANET;UNIPROT EMX2 \| 2018 \| CLINVAR;ORPHANET SHH \| 6469 \| CLINVAR;ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2018 \| EMX2 \| infer
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:4) SHH \| 7q36.3 EMX2 \| 10q26.11 COL4A1 \| 13q34 SIX3 \| 2p21

Disease ID	72
Disease	schizencephaly
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:11) HP:0010636 \| Schizencephaly HP:0001249 \| Intellectual disability HP:0001250 \| Seizures HP:0000486 \| Strabismus HP:0002510 \| Spastic tetraplegia HP:0002132 \| Porencephaly HP:0001269 \| Hemiparesis HP:0001263 \| Global developmental delay HP:0007370 \| Aplasia/Hypoplasia of the corpus callosum HP:0002353 \| EEG abnormality HP:0001257 \| Spasticity
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0100842 \| Septo-optic dysplasia \| 2 HP:0000709 \| Psychosis \| 2 HP:0001249 \| Mental retardation \| 1 HP:0100021 \| Cerebral palsy \| 1 HP:0000722 \| Obsessive compulsive disorder \| 1 HP:0001331 \| Agenesis of the septum pellucidum \| 1 HP:0007302 \| Bipolar disorder \| 1 HP:0001269 \| Hemiparesis \| 1 HP:0001263 \| Developmental retardation \| 1

Disease ID	72
Disease	schizencephaly
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C1096063 \| intractable epilepsy C0029434 \| osteogenesis imperfecta C0018989 \| hemiparesis C0014556 \| temporal lobe epilepsy C0014544 \| epilepsy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0014544 \| epilepsy \| 5 C0018989 \| hemiparesis \| 1 C1096063 \| intractable epilepsy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894047	NA	6469	SHH	umls:C0266484	CLINVAR	NA	0.240271442	NA	SHH	7	155803420	C	T
rs199823175	NA	6496	SIX3	umls:C0266484	CLINVAR	NA	0.360271442	NA	SIX3;SIX3-AS1	2	44942213	G	T
rs387906867	NA	6496	SIX3	umls:C0266484	CLINVAR	NA	0.360271442	NA	SIX3;SIX3-AS1	2	44942489	G	T
rs387906868	NA	6496	SIX3	umls:C0266484	CLINVAR	NA	0.360271442	NA	SIX3;SIX3-AS1	2	44942603	G	T
rs587777379	NA	1282	COL4A1	umls:C0266484	CLINVAR	NA	0.360271442	NA	COL4A1	13	110166277	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	MP:0008297	retention of the adrenal gland x-zone;

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100543	Cognitive impairment	MP:0011250	abdominal situs ambiguus;HP:0004374	Hemiplegia/hemiparesis

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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