PedAM

Pediatric Disease Annotations & Medicines


	aceruloplasminemia

Disease ID	197
Disease	aceruloplasminemia
Definition	Aceruloplasminemia is a rare autosomal recessive disorder[1] in which iron gradually accumulates in the retina, basal ganglia, and other organs.[2] Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time. - Wikipedia Reference: https://en.wikipedia.org/wiki/aceruloplasminemia
Synonym	ceruloplasmin deficiency deficiency of caeruloplasmin deficiency of ceruloplasmin deficiency of ferroxidase deficiency of ferroxidase (disorder) hypoceruloplasminemia
Orphanet	ORPHANET:48818
OMIM	OMIM:604290
DOID	DOID:0050711
UMLS	C0878682
SNOMED-CT	SNOMEDCT_US_2016_09_01:124224004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0282193 \| iron overload \| 3 C0040188 \| tic disorders \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CP \| 1356 \| CLINVAR;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:43) 79152 \| FA2H \| DISEASES 57817 \| HAMP \| DISEASES 7036 \| TFR2 \| DISEASES 540 \| ATP7B \| DISEASES 22 \| ABCB7 \| DISEASES 3658 \| IREB2 \| DISEASES 30061 \| SLC40A1 \| DISEASES 1991 \| ELANE \| DISEASES 57192 \| MCOLN1 \| DISEASES 1356 \| CP \| DISEASES 654 \| BMP6 \| DISEASES 53354 \| PANK1 \| DISEASES 5319 \| PLA2G1B \| DISEASES 80025 \| PANK2 \| DISEASES 94081 \| SFXN1 \| DISEASES 79901 \| CYBRD1 \| DISEASES 2314 \| FLII \| DISEASES 23400 \| ATP13A2 \| DISEASES 212 \| ALAS2 \| DISEASES 8398 \| PLA2G6 \| DISEASES 5521 \| PPP2R2B \| DISEASES 148738 \| HFE2 \| DISEASES 6622 \| SNCA \| DISEASES 538 \| ATP7A \| DISEASES 11152 \| WDR45 \| DISEASES 617 \| BCS1L \| DISEASES 9197 \| SLC33A1 \| DISEASES 7037 \| TFRC \| DISEASES 773 \| CACNA1A \| DISEASES 1523 \| CUX1 \| DISEASES 55361 \| PI4K2A \| DISEASES 80067 \| DCAF17 \| DISEASES 2395 \| FXN \| DISEASES 2512 \| FTL \| DISEASES 83636 \| C19orf12 \| DISEASES 4287 \| ATXN3 \| DISEASES 4891 \| SLC11A2 \| DISEASES 6314 \| ATXN7 \| DISEASES 7018 \| TF \| DISEASES 1052 \| CEBPD \| DISEASES 3077 \| HFE \| DISEASES 9843 \| HEPH \| DISEASES 80347 \| COASY \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) CP \| 3q24-q25.1

Disease ID	197
Disease	aceruloplasminemia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:22) HP:0001635 \| Congestive heart failure HP:0012465 \| Elevated hepatic iron concentration HP:0000708 \| Behavioral abnormality HP:0002354 \| Memory impairment HP:0001251 \| Ataxia HP:0007863 \| Retinal lesions HP:0000750 \| Delayed speech and language development HP:0010837 \| Decreased serum ceruloplasmin HP:0000819 \| Diabetes mellitus HP:0001276 \| Hypertonia HP:0001260 \| Dysarthria HP:0000726 \| Dementia HP:0000716 \| Depression HP:0000473 \| Torticollis HP:0005505 \| Refractory anemia HP:0000821 \| Hypothyroidism HP:0002072 \| Chorea HP:0000643 \| Blepharospasm HP:0003281 \| Increased serum ferritin HP:0001300 \| Parkinsonism HP:0004305 \| Involuntary movements HP:0001337 \| Tremor
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0000707 \| Neurological abnormality \| 1 HP:0002180 \| Neurodegeneration \| 1 HP:0100033 \| Tic disorder \| 1

Disease ID	197
Disease	aceruloplasminemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C1963148 \| iron overload C0235031 \| neurologic symptoms C0026650 \| movement disorder C0024437 \| macular degeneration C0014130 \| endocrine diseases C0011860 \| diabetes
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0282193 \| iron overload \| 3

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

All Snps(Total Genotypes:43)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909579	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149179587	C	T
rs139633388	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149178609	C	G
rs145784949	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149185366	G	A
rs200683433	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149212616	C	G
rs34394958	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149177867	A	G
rs386134121	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149221711	T	A
rs386134122	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149210281	G	C
rs386134123	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149210226	A	G,C
rs386134124	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149210187	G	C,A
rs386134125	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149209342	A	G
rs386134126	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149207551	C	G
rs386134127	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149206327	G	T
rs386134128	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149206253	A	G
rs386134129	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149186723	C	T
rs386134130	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149185393	G	T
rs386134131	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149178618	C	T
rs386134132	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149177905	T	C
rs386134133	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149177896	C	T
rs386134134	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149221646	C	T,A
rs386134135	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149210380	C	T
rs386134136	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149210166	C	T
rs386134137	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149202243	T	C
rs386134138	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149202239	-	CA
rs386134139	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149186733	C	T
rs386134140	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149182004	C	A
rs386134141	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149177980	C	T
rs386134142	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149176413	C	T
rs386134143	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149210167	-	T
rs386134144	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149202192	AA	-
rs386134145	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149202163	-	GTGTA
rs386134146	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149186679	C	-
rs386134147	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149186532	G	-
rs386134148	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149186529	C	-
rs386134149	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149183502	C	-
rs386134150	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149182077	C	-
rs386134151	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149182048	-	A
rs386134152	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149179615	C	-
rs386134153	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149178603	AG	-
rs386134154	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149177940	-	T
rs386134155	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149209349	G	A
rs386134156	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149178592	G	A
rs587777922	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149185339	G	-
rs61733458	NA	1356	CP	umls:C0878682	CLINVAR	NA	0.327600372	NA	CP	3	149198428	G	A

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: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.)