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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Ataxia (D001259)
Parent Node: Brain Neoplasms (D001932)
Parent Node: Calcinosis (D002114)
Parent Node: Central Nervous System Cysts (D020863)
Parent Node: Leukoencephalopathies (D056784)
Parent Node: Muscle Spasticity (D009128)
Parent Node: Retinal Diseases (D012164)
Parent Node: Seizures (D012640)
..Starting node ..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
Child Nodes:
Sister Nodes:
..Adams Nance syndrome (C538224)
..Alcohol Withdrawal Seizures (D020270)
..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..Baraitser Rodeck Garner syndrome (C537906)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..Copper deficiency, familial benign (C535468)
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..Dysmyelination With Jaundice (C565610)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..Hyper-Beta-Alaninemia (C562684)
..Hyperleucine-Isoleucinemia (C562674)
..Hyperphosphatemia, Polyuria, and Seizures (C565494)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Infantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Methionine Malabsorption Syndrome (C562682)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..Muller Barth Menger syndrome (C537370)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Partington X-linked mental retardation syndrome (C536300)
..Perniola Krajewska Carnevale syndrome (C536660)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..Qazi Markouizos syndrome (C536259)
..SeSAME syndrome (C557674)
..Tranebjaerg Svejgaard syndrome (C536978)
..Warman Mulliken Hayward syndrome (C536684)
..X-linked mental retardation Gustavson type (C536759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1969

Name:

Cerebroretinal Microangiopathy with Calcifications and Cysts

Definition:

Alternative IDs:

ParentIDs:

TreeNumbers:

C04.588.614.250.195/C567401 |C04.588.614.250.387/C567401 |C05.651.512/C567401 |C10.228.140.211/C567401 |C10.228.140.490.631/C567401 |C10.228.140.695/C567401 |C10.500.142/C567401 |C10.551.240.250/C567401 |C10.551.240.375/C567401 |C10.597.350.090/C567401 |C10.597.61

Synonyms:

Coats Plus Syndrome |Labrune Syndrome |Leukoencephalopathy Brain Calcifications and Cysts

Slim Mappings:

Reference:

MedGen: C567401
MeSH: C567401
OMIM: 612199;

Genes: CTC1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0007256	Abnormal pyramidal sign
4	HP:0002071	Abnormality of extrapyramidal motor function
5	HP:0001903	Anemia
6	HP:0001251	Ataxia
7	HP:0000618	Blindness
8	HP:0005528	Bone marrow hypocellularity	HP:0040283
9	HP:0002514	Cerebral calcification
10	HP:0001260	Dysarthria
11	HP:0001332	Dystonia
12	HP:0007898	Exudative retinopathy
13	HP:0002857	Genu valgum
14	HP:0002301	Hemiplegia
15	HP:0002659	Increased susceptibility to fractures
16	HP:0002584	Intestinal bleeding
17	HP:0001511	Intrauterine growth retardation
18	HP:0002415	Leukodystrophy
19	HP:0002352	Leukoencephalopathy
20	HP:0001268	Mental deterioration
21	HP:0004979	Metaphyseal sclerosis
22	HP:0002062	Morphological abnormality of the pyramidal tract
23	HP:0002164	Nail dysplasia
24	HP:0000648	Optic atrophy
25	HP:0002745	Oral leukoplakia	HP:0040283
26	HP:0000938	Osteopenia
27	HP:0000939	Osteoporosis
28	HP:0002756	Pathologic fracture
29	HP:0003812	Phenotypic variability
30	HP:0008897	Postnatal growth retardation
31	HP:0003676	Progressive
32	HP:0007763	Retinal telangiectasia
33	HP:0002650	Scoliosis
34	HP:0001250	Seizure
35	HP:0100864	Short femoral neck
36	HP:0004322	Short stature
37	HP:0008070	Sparse hair
38	HP:0001257	Spasticity
39	HP:0000963	Thin skin
40	HP:0001873	Thrombocytopenia	HP:0040283
41	HP:0001337	Tremor

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_025099.5(CTC1):c.3583C>T (p.Arg1195Ter)	80169	CTC1	Pathogenic	199473682	RCV000023994;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8131569	8131569	NM_025099.5:c.3583C>T	NP_079375.3:p.Arg1195Ter	NC_000017.10:g.8131569G>A	OMIM Allelic Variant:613129.0009	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts
NM_025099.5(CTC1):c.3425T>A (p.Leu1142His)	80169	CTC1	Pathogenic	201455840	RCV000023992;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8131910	8131910	NM_025099.5:c.3425T>A	NP_079375.3:p.Leu1142His	NC_000017.10:g.8131910A>T	OMIM Allelic Variant:613129.0008	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts
NM_025099.5(CTC1):c.2959C>T (p.Arg987Trp)	80169	CTC1	Pathogenic	202138550	RCV000023987;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8133261	8133261	NM_025099.5:c.2959C>T	NP_079375.3:p.Arg987Trp	NC_000017.10:g.8133261G>A	OMIM Allelic Variant:613129.0002	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts
NM_025099.5(CTC1):c.2954_2956delGTT (p.Cys985del)	80169	CTC1	Pathogenic	199473679	RCV000033248;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8133264	8133266	NM_025099.5:c.2954_2956delGTT	NP_079375.3:p.Cys985del	NC_000017.10:g.8133264_8133266delAAC	OMIM Allelic Variant:613129.0012	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts
NM_025099.5(CTC1):c.2831delC (p.Pro944Leufs)	80169	CTC1	Pathogenic	199473677	RCV000023991;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8133714	8133714	NM_025099.5:c.2831delC	NP_079375.3:p.Pro944Leufs	NC_000017.10:g.8133714delG	OMIM Allelic Variant:613129.0007	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts
NM_025099.5(CTC1):c.2611G>A (p.Val871Met)	80169	CTC1	Pathogenic	369255297	RCV000023988;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8134652	8134652	NM_025099.5:c.2611G>A	NP_079375.3:p.Val871Met	NC_000017.10:g.8134652C>T	OMIM Allelic Variant:613129.0003	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts
NM_025099.5(CTC1):c.2518C>T (p.Arg840Trp)	80169	CTC1	Pathogenic	373905859	RCV000023990;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8134745	8134745	NM_025099.5:c.2518C>T	NP_079375.3:p.Arg840Trp	NC_000017.10:g.8134745G>A	OMIM Allelic Variant:613129.0005	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts
NM_025099.5(CTC1):c.1994T>G (p.Val665Gly)	80169	CTC1	Pathogenic	199473676	RCV000023993;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8135745	8135745	NM_025099.5:c.1994T>G	NP_079375.3:p.Val665Gly	NC_000017.10:g.8135745A>C	OMIM Allelic Variant:613129.0006	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts
NM_025099.5(CTC1):c.1058delC (p.Ser353Leufs)	80169	CTC1	Pathogenic	199473675	RCV000023996;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8139395	8139395	NM_025099.5:c.1058delC	NP_079375.3:p.Ser353Leufs	NC_000017.10:g.8139395delG	OMIM Allelic Variant:613129.0011	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts
NM_025099.5(CTC1):c.859C>T (p.Arg287Ter)	80169	CTC1	Pathogenic	397514660	RCV000033249;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8139594	8139594	NM_025099.5:c.859C>T	NP_079375.3:p.Arg287Ter	NC_000017.10:g.8139594G>A	OMIM Allelic Variant:613129.0013	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts
NM_025099.5(CTC1):c.775G>A (p.Val259Met)	80169	CTC1	Pathogenic	387907080	RCV000023989;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8140710	8140710	NM_025099.5:c.775G>A	NP_079375.3:p.Val259Met	NC_000017.10:g.8140710C>T	OMIM Allelic Variant:613129.0004	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts
NM_025099.5(CTC1):c.724_727delAAAG (p.Lys242Leufs)	80169	CTC1	Pathogenic	199473674	RCV000023986;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8140758	8140761	NM_025099.5:c.724_727delAAAG	NP_079375.3:p.Lys242Leufs	NC_000017.10:g.8140758_8140761delCTTT	OMIM Allelic Variant:613129.0001	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts
NM_025099.5(CTC1):c.680C>T (p.Ala227Val)	80169	CTC1	Pathogenic	199473673	RCV000023995;	N	MedGen:C2677299,OMIM:612199,ORPHA:313838	17	8140805	8140805	NM_025099.5:c.680C>T	NP_079375.3:p.Ala227Val	NC_000017.10:g.8140805G>A	OMIM Allelic Variant:613129.0010	C2677299 612199 Cerebroretinal microangiopathy with calcifications and cysts