PedAM

Pediatric Disease Annotations & Medicines


	spastic paraparesis

Disease ID	996
Disease	spastic paraparesis
Definition	Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
Synonym	lower extremity weakness, spastic parapareses, spastic paraparesis, spastic paraparesis, spastic [disease/finding] spastic lower extremity weakness spastic parapareses spastic paraparesis (disorder) spastic paraparesis (finding)
UMLS	C0037771
MeSH	D020336
SNOMED-CT	SNOMEDCT_US_2016_09_01:312444006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:23) C0037928 \| myelopathy \| 5 C0004134 \| ataxia \| 2 C0023890 \| liver cirrhosis \| 1 C0002395 \| alzheimer disease \| 1 C0002395 \| alzheimer's disease \| 1 C0085084 \| motor neurone disease \| 1 C0268548 \| hyperargininemia \| 1 C0019048 \| hemoglobinuria \| 1 C0023890 \| cirrhosis \| 1 C0003486 \| aortic aneurysm \| 1 C0005697 \| neurogenic bladder \| 1 C0040188 \| tic disorders \| 1 C0023493 \| adult t cell leukemia \| 1 C0026769 \| multiple sclerosis \| 1 C0021053 \| immune disorder \| 1 C0031117 \| peripheral neuropathy \| 1 C0024790 \| paroxysmal nocturnal hemoglobinuria \| 1 C0023520 \| leukodystrophy \| 1 C0023891 \| alcoholic cirrhosis \| 1 C0021053 \| immune disorders \| 1 C0442874 \| neuropathy \| 1 C0023492 \| t cell leukemia \| 1 C0024790 \| paroxysmal nocturnal hemoglobinuria (pnh) \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) TECPR2 \| 9895 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	996
Disease	spastic paraparesis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:30) HP:0002196 \| Myelopathy \| 5 HP:0003487 \| Extensor plantar reflexes \| 3 HP:0002079 \| Hypoplasia of the corpus callosum \| 2 HP:0002500 \| Leukoaraiosis \| 2 HP:0001347 \| Hyperreflexia \| 2 HP:0001251 \| Ataxia \| 2 HP:0100543 \| Cognitive deficits \| 2 HP:0003641 \| Hemoglobin in urine \| 1 HP:0100033 \| Tic disorder \| 1 HP:0012534 \| Dysesthesia \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0004942 \| Aortic aneurysm \| 1 HP:0001324 \| Muscular weakness \| 1 HP:0002527 \| Falls \| 1 HP:0100754 \| Mania \| 1 HP:0003470 \| Inability to move \| 1 HP:0002511 \| Late-onset form of familial Alzheimer disease \| 1 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0011096 \| Demyelination \| 1 HP:0002176 \| Spinal cord compression \| 1 HP:0000011 \| Neurogenic bladder \| 1 HP:0004818 \| Paroxysmal nocturnal hemoglobinuria \| 1 HP:0001399 \| Liver failure \| 1 HP:0100561 \| Spinal cord lesion \| 1 HP:0002066 \| Gait ataxia \| 1 HP:0002415 \| Degeneration of white matter of brain \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0001252 \| Hypotonia \| 1

Disease ID	996
Disease	spastic paraparesis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C2598155 \| pain C2364051 \| fatigue C1394891 \| intrinsic factor deficiency C0700323 \| neuromuscular blockade C0575081 \| gait disturbance C0278198 \| musicogenic epilepsy C0043119 \| werner's syndrome C0043119 \| werner syndrome C0039145 \| syringomyelia
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs11538758	19443103	5621	PRNP	umls:C0037771	BeFree	A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis.	0.001085767	2009	PRNP	20	4699534	C	A,T
rs374263073	19912322	3918	LAMC2	umls:C0037771	BeFree	A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF.	0.000542884	2010	LAMC2	1	183222116	G	A
rs63750524	17507029	5663	PSEN1	umls:C0037771	BeFree	A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.	0.020960613	2007	PSEN1	14	73198095	A	C
rs63750588	15364419	5663	PSEN1	umls:C0037771	BeFree	A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.	0.020960613	2004	PSEN1	14	73173687	T	A
rs63750599	15534188	5663	PSEN1	umls:C0037771	BeFree	A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.	0.020960613	2004	PSEN1	14	73170963	T	C
rs63750802	17645236	5663	PSEN1	umls:C0037771	BeFree	A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.	0.020960613	2007	PSEN1	14	73219144	T	G
rs63751032	17645236	5663	PSEN1	umls:C0037771	BeFree	A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.	0.020960613	2007	PSEN1	14	73219156	T	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:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0037771	methadone	D008691	76-99-3	paraparesis, spastic	MESH:D020336	marker/mechanism	14622789
C0037771	morphine	D009020	57-27-2	paraparesis, spastic	MESH:D020336	marker/mechanism	12401631

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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