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	neurodegeneration with brain iron accumulation 1

Disease ID	1140
Disease	neurodegeneration with brain iron accumulation 1
Definition	A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)
Synonym	brain iron accumulation type i syndrome degeneration, pigmentary pallidal dystrophies, juvenile-onset neuroaxonal dystrophy, juvenile-onset neuroaxonal hallervorden spatz dis hallervorden spatz disease hallervorden spatz syndrome hallervorden-spatz disease hallervorden-spatz syndrome juvenile-onset neuroaxonal dystrophies juvenile-onset neuroaxonal dystrophy nbia 1 nbia1 neuroaxonal dystrophies, juvenile-onset neuroaxonal dystrophy, juvenile onset neuroaxonal dystrophy, juvenile-onset neurodegeneration with brain iron accumulation type 1 neurodegeneration, pantothenate kinase-associated pallidal atrophy, pigmentary pantothenate kinase associated neurodegeneration pantothenate kinase-associated neurodegeneration pantothenate kinase-associated neurodegeneration [disease/finding] pigmentary pallidal atrophy pigmentary pallidal degeneration pigmentary pallidal degeneration (disorder) pkan pkan neuroaxonal dystrophy, juvenile onset pkan neuroaxonal dystrophy, juvenile-onset
Orphanet	ORPHANET:157850
OMIM	OMIM:234200
DOID	DOID:3981
ICD10	ICD10CM:G23.0
UMLS	C0018523
MeSH	D006211
SNOMED-CT	SNOMEDCT_US_2016_09_01:2992000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0018523 \| pantothenate kinase-associated neurodegeneration \| 9 C0013421 \| dystonia \| 4 C0000744 \| acanthocytosis \| 1 C0035304 \| retinal degeneration \| 1 C0035334 \| pigmentary retinopathy \| 1 C0035309 \| retinopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 80025 \| PANK2 \| CLINVAR;CTD_human;GHR;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:35) 26090 \| ABHD12 \| 2.516 \| DISEASES 212 \| ALAS2 \| 1.794 \| DISEASES 224 \| ALDH3A2 \| 1.759 \| DISEASES 23400 \| ATP13A2 \| 3.56 \| DISEASES 617 \| BCS1L \| 2.15 \| DISEASES 83636 \| C19orf12 \| 5.025 \| DISEASES 80347 \| COASY \| 3.704 \| DISEASES 80067 \| DCAF17 \| 2.339 \| DISEASES 28514 \| DLL1 \| 1.705 \| DISEASES 2512 \| FTL \| 3.844 \| DISEASES 2395 \| FXN \| 2.187 \| DISEASES 2643 \| GCH1 \| 2.154 \| DISEASES 3052 \| HCCS \| 2.74 \| DISEASES 9843 \| HEPH \| 1.937 \| DISEASES 3077 \| HFE \| 1.625 \| DISEASES 148738 \| HFE2 \| 1.279 \| DISEASES 3182 \| HNRNPAB \| 3.119 \| DISEASES 3064 \| HTT \| 1.151 \| DISEASES 3792 \| KEL \| 2.038 \| DISEASES 4958 \| OMD \| 1.774 \| DISEASES 55229 \| PANK4 \| 3.889 \| DISEASES 8398 \| PLA2G6 \| 5.242 \| DISEASES 10908 \| PNPLA6 \| 1.336 \| DISEASES 23322 \| RPGRIP1L \| 1.871 \| DISEASES 26278 \| SACS \| 1.562 \| DISEASES 8910 \| SGCE \| 1.476 \| DISEASES 6622 \| SNCA \| 3.648 \| DISEASES 6623 \| SNCG \| 1.412 \| DISEASES 6663 \| SOX10 \| 1.005 \| DISEASES 23013 \| SPEN \| 1.395 \| DISEASES 7018 \| TF \| 1.025 \| DISEASES 1861 \| TOR1A \| 2.612 \| DISEASES 8725 \| URI1 \| 2.105 \| DISEASES 23230 \| VPS13A \| 4.118 \| DISEASES 11152 \| WDR45 \| 2.338 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1140
Disease	neurodegeneration with brain iron accumulation 1
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0001332 \| Dystonia \| 4 HP:0001927 \| Acanthocytosis \| 2 HP:0000546 \| Retinal degeneration \| 1 HP:0000580 \| Pigmentary retinopathy \| 1 HP:0100022 \| Movement disorder \| 1 HP:0000488 \| Noninflammatory retina disease \| 1

Disease ID	1140
Disease	neurodegeneration with brain iron accumulation 1
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0013421 \| dystonia \| 2

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

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

All Snps(Total Genotypes:10)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137852959	NA	80025	PANK2	umls:C0018523	CLINVAR	NA	0.377663585	NA	PANK2;MIR103B2	20	3918695	G	A
rs137852959	23968566	80025	PANK2	umls:C0018523	BeFree	The patient was found to have two mutations in the pantothenate kinase 2 (PANK2) gene that have been previously associated with pantothenate kinase-associated neurodegeneration: a paternally inherited p.G521R and maternally inherited p.T528M.	0.377663585	2013	PANK2;MIR103B2	20	3918695	G	A
rs137852960	NA	80025	PANK2	umls:C0018523	CLINVAR	NA	0.377663585	NA	PANK2	20	3889670	C	G
rs137852961	NA	80025	PANK2	umls:C0018523	CLINVAR	NA	0.377663585	NA	PANK2	20	3908087	C	T
rs137852962	NA	80025	PANK2	umls:C0018523	CLINVAR	NA	0.377663585	NA	PANK2	20	3908153	C	T
rs137852963	NA	80025	PANK2	umls:C0018523	CLINVAR	NA	0.377663585	NA	PANK2	20	3912634	G	A
rs137852967	NA	80025	PANK2	umls:C0018523	CLINVAR	NA	0.377663585	NA	PANK2;MIR103B2	20	3918717	C	T
rs137852967	23968566	80025	PANK2	umls:C0018523	BeFree	The patient was found to have two mutations in the pantothenate kinase 2 (PANK2) gene that have been previously associated with pantothenate kinase-associated neurodegeneration: a paternally inherited p.G521R and maternally inherited p.T528M.	0.377663585	2013	PANK2;MIR103B2	20	3918717	C	T
rs137852969	NA	80025	PANK2	umls:C0018523	CLINVAR	NA	0.377663585	NA	PANK2	20	3889633	C	A
rs41279408	15834858	80025	PANK2	umls:C0018523	UNIPROT	We describe the case of an adult female with Hallervorden-Spatz disease (HSD), eye-of-the-tiger sign on cranial magnetic resonance imaging scan, and two mutations in the pantothenate kinase 2 (PANK2) gene.	0.377663585	2005	PANK2	20	3923290	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:0)
(Waiting for update.)

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

Disease ID	1140
Disease	neurodegeneration with brain iron accumulation 1
Case	(Waiting for update.)

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