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	aceruloplasminemia

Disease ID	342
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) 1356 \| CP \| CLINVAR;GHR;UNIPROT;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:27) 212 \| ALAS2 \| 2.161 \| DISEASES 23400 \| ATP13A2 \| 3.014 \| DISEASES 538 \| ATP7A \| 1.129 \| DISEASES 4287 \| ATXN3 \| 1.222 \| DISEASES 6314 \| ATXN7 \| 1.692 \| DISEASES 617 \| BCS1L \| 1.738 \| DISEASES 83636 \| C19orf12 \| 2.742 \| DISEASES 773 \| CACNA1A \| 1.074 \| DISEASES 1052 \| CEBPD \| 1.883 \| DISEASES 80347 \| COASY \| 3.646 \| DISEASES 1523 \| CUX1 \| 2.12 \| DISEASES 80067 \| DCAF17 \| 3.798 \| DISEASES 2314 \| FLII \| 2.187 \| DISEASES 2512 \| FTL \| 3.044 \| DISEASES 2395 \| FXN \| 2.053 \| DISEASES 9843 \| HEPH \| 5.581 \| DISEASES 3077 \| HFE \| 4.227 \| DISEASES 148738 \| HFE2 \| 4.209 \| DISEASES 55361 \| PI4K2A \| 1.515 \| DISEASES 8398 \| PLA2G6 \| 3.36 \| DISEASES 5521 \| PPP2R2B \| 2.366 \| DISEASES 4891 \| SLC11A2 \| 3.349 \| DISEASES 9197 \| SLC33A1 \| 3.203 \| DISEASES 6622 \| SNCA \| 1.165 \| DISEASES 7018 \| TF \| 3.898 \| DISEASES 7037 \| TFRC \| 2.535 \| DISEASES 11152 \| WDR45 \| 2.793 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) CP \| 3q24-q25.1

Disease ID	342
Disease	aceruloplasminemia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:22) HP:0002354 \| Memory impairment HP:0001300 \| Parkinsonism HP:0000643 \| Blepharospasm HP:0002072 \| Chorea HP:0001260 \| Dysarthria HP:0007863 \| Retinal lesions HP:0000750 \| Delayed speech and language development HP:0001635 \| Congestive heart failure HP:0001251 \| Ataxia HP:0010837 \| Decreased serum ceruloplasmin HP:0001276 \| Hypertonia HP:0003281 \| Increased serum ferritin HP:0000708 \| Behavioral abnormality HP:0000473 \| Torticollis HP:0000726 \| Dementia HP:0004305 \| Involuntary movements HP:0005505 \| Refractory anemia HP:0012465 \| Elevated hepatic iron concentration HP:0001337 \| Tremor HP:0000819 \| Diabetes mellitus HP:0000716 \| Depression HP:0000821 \| Hypothyroidism
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0002180 \| Neurodegeneration \| 1 HP:0000707 \| Neurological abnormality \| 1 HP:0100033 \| Tic disorder \| 1

Disease ID	342
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.)

Text Mining Genotype(Total 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:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000750	Delayed speech and language development	MP:0012251	abnormal diaphragm development	malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration
HP:0004305	Involuntary movements	MP:0000436	abnormal head movements	any anomaly in the motion of the portion of the body containing the brain and organs of sight, hearing, taste, and smell
HP:0001635	Congestive heart failure	MP:0011925	abnormal heart echocardiography feature	any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features

Mapped by homologous gene(Total Items:20)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000716	Depression	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001635	Congestive heart failure	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000643	Blepharospasm	MP:0014178	increased brain apoptosis	increase in the number of cells of the brain undergoing programmed cell death
HP:0000726	Dementia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002354	Memory impairment	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001276	Hypertonia	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000473	Torticollis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002072	Chorea	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000750	Delayed speech and language development	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0005505	Refractory anemia	MP:0009549	decreased platelet aggregation	decrease in the ability of one platelet to one or more other platelets via adhesion molecules
HP:0000819	Diabetes mellitus	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003281	Increased serum ferritin	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0001300	Parkinsonism	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000708	Behavioral abnormality	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0010837	Decreased serum ceruloplasmin	MP:0013905	preputial gland inflammation	local accumulation of fluid, plasma proteins, and leukocytes in any of the paired, lobulated, modified sebaceous glands located in the inguinal region adjacent to the penis and vagina, with pheromonal functions in male rodents; in males, the preputial gla
HP:0004305	Involuntary movements	MP:0013572	abnormal parathyroid gland chief cell morphology	any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH)
HP:0001260	Dysarthria	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001251	Ataxia	MP:0020301	short tongue	decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0001337	Tremor	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000821	Hypothyroidism	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland

Disease ID	342
Disease	aceruloplasminemia
Case	(Waiting for update.)