PedAM

Pediatric Disease Annotations & Medicines


	cerebroretinal microangiopathy with calcifications and cysts

Disease ID	1407
Disease	cerebroretinal microangiopathy with calcifications and cysts
Definition	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which affects multiple organs.[1][2] Its hallmarks are widespread progressive calcifications, cysts and abnormalities of the white matter of the brain, usually occurring together with abnormalities of the blood vessels of the retina. Additional features include poor prenatal growth, preterm birth, anemia, osteopenia and bone fractures,[3][4][5] and gastrointestinal bleeding.[6] It is caused by compound heterozygous mutations in the conserved telomere maintenance component 1 (CTC1) gene,[7][8] but its exact pathophysiology is still not well understood. - Wikipedia Reference: https://en.wikipedia.org/wiki/cerebroretinal microangiopathy with calcifications and cysts
Synonym	cerebroretinal microangiopathy with calcifications and cysts (disorder) coats plus syndrome crmcc
Orphanet	ORPHANET:313838
OMIM	OMIM:612199
UMLS	C2677299
SNOMED-CT	SNOMEDCT_US_2016_09_01:711482008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0155765 \| microangiopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CTC1 \| 80169 \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1407
Disease	cerebroretinal microangiopathy with calcifications and cysts
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1407
Disease	cerebroretinal microangiopathy with calcifications and cysts
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:13)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs199473673	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8237487	G	A
rs199473674	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8237440	CTTT	-
rs199473675	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8236077	G	-
rs199473676	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8232427	A	C
rs199473677	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8230396	G	-
rs199473679	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8229946	AAC	-
rs199473682	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8228251	G	A
rs201455840	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8228592	A	G,T
rs202138550	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8229943	G	A
rs369255297	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8231334	C	T
rs373905859	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8231427	G	A
rs387907080	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8237392	C	T
rs397514660	NA	80169	CTC1	umls:C2677299	CLINVAR	NA	0.360542884	NA	CTC1	17	8236276	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.)

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