PedAM

Pediatric Disease Annotations & Medicines


	chiari malformation

Disease ID	998
Disease	chiari malformation
Definition	A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)
Synonym	(arnold) chiari malformation acm - arnold-chiari malformation arnola-chiari malformation arnold - chiari syndrome arnold chiari deformity arnold chiari malformation arnold chiari malformations arnold chiari syndrome arnold-chiari deformity arnold-chiari malformation arnold-chiari malformation [disease/finding] arnold-chiari syndrome arnold-chiari syndrome (disorder) cerebellomedullary malformation syndrome chiari malformation (disorder) chiari malformations chiari's malformation deformity, arnold-chiari malformation, arnold chiari malformation, arnold-chiari syndrome, arnold-chiari
OMIM	OMIM:207950
UMLS	C0003803
MeSH	D001139
SNOMED-CT	SNOMEDCT_US_2016_09_01:253184003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:27) C0039144 \| syringomyelia \| 23 C0036439 \| scoliosis \| 7 C0020255 \| hydrocephalus \| 4 C0020538 \| hypertension \| 2 C0037315 \| sleep-disordered breathing \| 2 C0037315 \| sleep apnea \| 2 C0028326 \| noonan syndrome \| 1 C0032708 \| porphyria \| 1 C0080178 \| spina bifida \| 1 C0031117 \| peripheral neuropathy \| 1 C0033845 \| pseudotumor cerebri \| 1 C0035934 \| rubinstein-taybi syndrome \| 1 C0006267 \| bronchiectasis \| 1 C0302592 \| cervical ca \| 1 C0265240 \| goldenhar syndrome \| 1 C0020538 \| systemic hypertension \| 1 C0078981 \| arachnoid cyst \| 1 C0016395 \| focal dermal hypoplasia \| 1 C0010278 \| craniosynostosis \| 1 C0080178 \| spinal dysraphism \| 1 C1145670 \| respiratory failure \| 1 C0442874 \| neuropathy \| 1 C0037315 \| sleep apnoea \| 1 C0220767 \| craniofrontonasal dysplasia \| 1 C0151740 \| intracranial hypertension \| 1 C0003857 \| arteriovenous malformation \| 1 C0162565 \| acute porphyria \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) ERF \| 2077 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	998
Disease	chiari malformation
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:32) HP:0003396 \| Syringomyelia \| 23 HP:0002650 \| Scoliosis \| 7 HP:0000238 \| Nonsyndromal hydrocephalus \| 4 HP:0001601 \| Laryngomalacia \| 3 HP:0002104 \| Absence of spontaneous respiration \| 3 HP:0010535 \| Sleep apnea \| 3 HP:0002475 \| Myelomeningocele \| 2 HP:0000822 \| Hypertension \| 2 HP:0002664 \| Neoplasia \| 1 HP:0004626 \| Lumbar scoliosis \| 1 HP:0007330 \| Frontal encephalocele \| 1 HP:0002414 \| Spina bifida \| 1 HP:0002110 \| Bronchiectasis \| 1 HP:0002315 \| Headaches \| 1 HP:0002084 \| Bifid skull \| 1 HP:0010536 \| Central sleep apnoea \| 1 HP:0100702 \| Arachnoid cyst \| 1 HP:0002871 \| Central apnea \| 1 HP:0012721 \| Venous malformations \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0010301 \| Spinal dysraphism \| 1 HP:0001363 \| Early fusion of cranial sutures \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0002516 \| Intracranial pressure elevation \| 1 HP:0012366 \| Basilar invagination \| 1 HP:0002025 \| Narrowing of anal opening \| 1 HP:0003691 \| Scapula alata \| 1 HP:0004602 \| Fusion of cervical vertebrae c2-3 \| 1 HP:0012531 \| Pain \| 1 HP:0003467 \| Atlantoaxial instability \| 1 HP:0030833 \| Neck pain \| 1

Disease ID	998
Disease	chiari malformation
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs4647924	22544111	2261	FGFR3	umls:C0003803	BeFree	The majority of associated anomalies, with the exception of psychomotor retardation and Chiari malformation, were detected more frequently in TWIST1 patients than in FGFR3 p.P250R patients.	0.000271442	2012	FGFR3	4	1801844	C	G

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

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

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:4)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0003803	phenytoin	D010672	57-41-0	arnold-chiari malformation	MESH:D001139	marker/mechanism	7946029
C0003803	tretinoin	D014212	302-79-4	arnold-chiari malformation	MESH:D001139	marker/mechanism	15893307
C0003803	valproic acid	D014635	99-66-1	arnold-chiari malformation	MESH:D001139	marker/mechanism	6401849
C0003803	vitamin a	D014801	11103-57-4	arnold-chiari malformation	MESH:D001139	marker/mechanism	7229658

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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