CRMCC1
MCID: CRB194
MIFTS: 53

Cerebroretinal Microangiopathy with Calcifications and Cysts 1 (CRMCC1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

MalaCards integrated aliases for Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

Name: Cerebroretinal Microangiopathy with Calcifications and Cysts 1 56 73 29 6
Cerebroretinal Microangiopathy with Calcifications and Cysts 56 25 58 29 13 6 71
Coats Plus Syndrome 56 25 58 73 36
Crmcc 56 25 58
Cerebral Small Vessel Diseases 43 71
Crmcc1 56 73
Microangiopathy, Cerebroretinal, with Calcifications and Cysts 39
Cerebral Small Vessel Disease 17
Leukoencephalopathies 43

Characteristics:

Orphanet epidemiological data:

58
coats plus syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
progressive disorder
onset in infancy or early childhood


HPO:

31
cerebroretinal microangiopathy with calcifications and cysts 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Genetics Home Reference : 25 Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Coats disease affects the retina, which is the tissue at the back of the eye that detects light and color. The disorder causes blood vessels in the retina to be abnormally enlarged (dilated) and twisted. The abnormal vessels leak fluid, which can eventually cause the layers of the retina to separate (retinal detachment). These eye abnormalities often result in vision loss. People with Coats plus syndrome also have brain abnormalities including abnormal deposits of calcium (calcification), the development of fluid-filled pockets called cysts, and loss of a type of brain tissue known as white matter (leukodystrophy). These brain abnormalities worsen over time, causing slow growth, movement disorders, seizures, and a decline in intellectual function. Other features of Coats plus syndrome include low bone density (osteopenia), which causes bones to be fragile and break easily, and a shortage of red blood cells (anemia), which can lead to unusually pale skin (pallor) and extreme tiredness (fatigue). Affected individuals can also have serious or life-threatening complications including abnormal bleeding in the gastrointestinal tract, high blood pressure in the vein that supplies blood to the liver (portal hypertension), and liver failure. Less common features of Coats plus syndrome can include sparse, prematurely gray hair; malformations of the fingernails and toenails; and abnormalities of skin coloring (pigmentation), such as light brown patches called café-au-lait spots. Coats plus syndrome and a disorder called leukoencephalopathy with calcifications and cysts (LCC; also called Labrune syndrome) have sometimes been grouped together under the umbrella term cerebroretinal microangiopathy with calcifications and cysts (CRMCC) because they feature very similar brain abnormalities. However, researchers recently found that Coats plus syndrome and LCC have different genetic causes, and they are now generally described as separate disorders instead of variants of a single condition.

MalaCards based summary : Cerebroretinal Microangiopathy with Calcifications and Cysts 1, also known as cerebroretinal microangiopathy with calcifications and cysts, is related to leukodystrophy and dyskeratosis congenita, and has symptoms including seizures, ataxia and tremor. An important gene associated with Cerebroretinal Microangiopathy with Calcifications and Cysts 1 is CTC1 (CST Telomere Replication Complex Component 1). The drugs Perindopril and Hydrochlorothiazide have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and liver, and related phenotypes are bone marrow hypocellularity and thrombocytopenia

OMIM : 56 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia (summary by Anderson et al., 2012 and Polvi et al., 2012). Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome (614561), has similar central nervous system features as CRMCC in the absence of extraneurologic or systemic manifestations. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012). Some features of CRMCC resemble those observed in dyskeratosis congenita (see, e.g., 127550), which is a clinically and genetically heterogeneous telomere-related genetic disorder. (612199)

KEGG : 36 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is a rare and highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. The most characteristic features are retinal telangiectasia and exudates, and a distinctive pattern of intracranial calcification with an associated leukodystrophy and brain cysts. It has been reported that mutations CTC1 and STN1 cause CRMCC. Both of them are members of CST complex, that plays multiple roles in telomere C-strand synthesis.

UniProtKB/Swiss-Prot : 73 Cerebroretinal microangiopathy with calcifications and cysts 1: An autosomal recessive pleiomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia.

Wikipedia : 74 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which... more...

Related Diseases for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Diseases in the Cerebroretinal Microangiopathy with Calcifications and Cysts 1 family:

Cerebroretinal Microangiopathy with Calcifications and Cysts 2

Diseases related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1002)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy 29.7 VPS11 CTC1
2 dyskeratosis congenita 29.1 STN1 CTC1
3 megalencephalic leukoencephalopathy with subcortical cysts 1 12.8
4 progressive multifocal leukoencephalopathy 12.8
5 leukoencephalopathy, hereditary diffuse, with spheroids 12.8
6 leukoencephalopathy with vanishing white matter 12.8
7 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 12.7
8 leukoencephalopathy, cystic, without megalencephaly 12.7
9 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 12.7
10 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 12.7
11 genetic cerebral small vessel disease 12.7
12 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 12.6
13 megalencephalic leukoencephalopathy with subcortical cysts 2a 12.6
14 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 12.6
15 clcn2-related leukoencephalopathy 12.6
16 htra1-related cerebral small vessel disease 12.6
17 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 12.6
18 leukoencephalopathy with ataxia 12.5
19 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 12.5
20 microangiopathy and leukoencephalopathy, pontine, autosomal dominant 12.5
21 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 12.5
22 leukoencephalopathy with dystonia and motor neuropathy 12.5
23 htra1-related autosomal dominant cerebral small vessel disease 12.5
24 col4a1 or col4a2-related cerebral small vessel disease 12.5
25 col4a1 or col4a2-related cerebral small vessel disease with hemorrhagic tendancy 12.5
26 col4a1 or col4a2-related cerebral small vessel disease with ischemic tendancy 12.5
27 col4a1-related familial vascular leukoencephalopathy 12.5
28 leukoencephalopathy, progressive, with ovarian failure 12.5
29 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 12.4
30 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 12.4
31 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 12.4
32 leukoencephalopathy palmoplantar keratoderma 12.4
33 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema 12.3
34 hypomyelinating leukoencephalopathy 12.2
35 csf1r-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 12.2
36 leukoencephalopathy, cerebral calcifications, and cysts 12.2
37 combined oxidative phosphorylation deficiency 12 12.2
38 progressive cavitating leukoencephalopathy 12.2
39 muscular dystrophy, adult-onset, with leukoencephalopathy 12.2
40 oculopharyngeal myopathy with leukoencephalopathy 1 12.1
41 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 12.0
42 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 12.0
43 early-onset calcifying leukoencephalopathy-skeletal dysplasia 12.0
44 brain small vessel disease 1 with or without ocular anomalies 12.0
45 mitochondrial dna depletion syndrome 1 12.0
46 mitochondrial complex ii deficiency 11.9
47 vasculopathy, retinal, with cerebral leukodystrophy 11.8
48 cerebral amyloid angiopathy, app-related 11.8
49 leukoencephalopathy, brain calcifications, and cysts 11.8
50 mitochondrial dna depletion syndrome 4b 11.8

Graphical network of the top 20 diseases related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:



Diseases related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Symptoms & Phenotypes for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Human phenotypes related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 bone marrow hypocellularity 31 occasional (7.5%) HP:0005528
2 thrombocytopenia 31 occasional (7.5%) HP:0001873
3 oral leukoplakia 31 occasional (7.5%) HP:0002745
4 genu valgum 31 HP:0002857
5 seizures 31 HP:0001250
6 spasticity 31 HP:0001257
7 scoliosis 31 HP:0002650
8 abnormal pyramidal sign 31 HP:0007256
9 ataxia 31 HP:0001251
10 dysarthria 31 HP:0001260
11 tremor 31 HP:0001337
12 cerebral calcification 31 HP:0002514
13 osteopenia 31 HP:0000938
14 short stature 31 HP:0004322
15 intrauterine growth retardation 31 HP:0001511
16 optic atrophy 31 HP:0000648
17 blindness 31 HP:0000618
18 osteoporosis 31 HP:0000939
19 anemia 31 HP:0001903
20 thin skin 31 HP:0000963
21 pathologic fracture 31 HP:0002756
22 postnatal growth retardation 31 HP:0008897
23 dystonia 31 HP:0001332
24 mental deterioration 31 HP:0001268
25 increased susceptibility to fractures 31 HP:0002659
26 abnormality of extrapyramidal motor function 31 HP:0002071
27 nail dysplasia 31 HP:0002164
28 retinal telangiectasia 31 HP:0007763
29 sparse hair 31 HP:0008070
30 hemiplegia 31 HP:0002301
31 leukoencephalopathy 31 HP:0002352
32 leukodystrophy 31 HP:0002415
33 intestinal bleeding 31 HP:0002584
34 short femoral neck 31 HP:0100864
35 exudative retinopathy 31 HP:0007898
36 metaphyseal sclerosis 31 HP:0004979
37 morphological abnormality of the pyramidal tract 31 HP:0002062

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
ataxia
dysarthria
tremor
more
Skeletal:
osteopenia
osteoporosis
pathologic fractures
lytic lesions
low trabecular bone volume see on bone biopsy
more
Growth Height:
short stature

Skin Nails Hair Skin:
thin skin
pigmentary abnormalities (in some patients)

Skin Nails Hair Hair:
sparse hair
graying hair

Skin Nails Hair Nails:
dysplastic nails

Hematology:
bone marrow failure (in some patients)
thrombocytopenia (less common)
anemia (less common)

Cardiovascular Vascular:
small vessel microangiopathy

Skeletal Spine:
scoliosis

Skeletal Limbs:
bowing of the long bones
short femoral neck
metaphyseal sclerosis
genu valga

Head And Neck Eyes:
optic atrophy
blindness
retinal telangiectasia
exudative retinopathy
coats disease
more
Growth Other:
postnatal growth retardation
intrauterine growth retardation (iugr)

Abdomen Gastrointestinal:
intestinal bleeding
telangiectatic mucosal blood vessels

Laboratory Abnormalities:
shortened telomeres

Head And Neck Mouth:
oral leukoplakia (in some patients)

Clinical features from OMIM:

612199

UMLS symptoms related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:


seizures, ataxia, tremor, abnormality of extrapyramidal motor function, hemiplegia, muscle spasticity, abnormal pyramidal signs

GenomeRNAi Phenotypes related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased caspase activity GR00400-S-1 8.8 STN1 VPS11
2 Increased caspase activity GR00400-S-2 8.8 STN1

Drugs & Therapeutics for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Drugs for Cerebroretinal Microangiopathy with Calcifications and Cysts 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 173)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
2
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
3
Atorvastatin Approved Phase 4 134523-00-5 60823
4
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
5
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
6
Natalizumab Approved, Investigational Phase 4 189261-10-7
7
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
8
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
9
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
10 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
11
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
12
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
13 Sodium Chloride Symporter Inhibitors Phase 4
14 Angiotensin-Converting Enzyme Inhibitors Phase 4
15 Anticholesteremic Agents Phase 4
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
17 Mitogens Phase 4
18 Cholinesterase Inhibitors Phase 4
19 Fibrinolytic Agents Phase 4
20 Respiratory System Agents Phase 4
21 Anti-Asthmatic Agents Phase 4
22 Anti-Inflammatory Agents, Non-Steroidal Phase 4
23 Analgesics, Non-Narcotic Phase 4
24 Platelet Aggregation Inhibitors Phase 4
25 Cyclooxygenase Inhibitors Phase 4
26 Antipyretics Phase 4
27 Antirheumatic Agents Phase 4
28 Bronchodilator Agents Phase 4
29 Phosphodiesterase 3 Inhibitors Phase 4
30 Phosphodiesterase Inhibitors Phase 4
31 Analgesics Phase 4
32 Anti-Inflammatory Agents Phase 4
33 Neuroprotective Agents Phase 4
34 Autonomic Agents Phase 4
35 Protective Agents Phase 4
36 Hormones Phase 4
37 Gastrointestinal Agents Phase 4
38 Fluorodeoxyglucose F18 Phase 4
39 Radiopharmaceuticals Phase 4
40 Methylprednisolone Acetate Phase 4
41 Antiemetics Phase 4
42 Hormone Antagonists Phase 4
43 glucocorticoids Phase 4
44 Antineoplastic Agents, Hormonal Phase 4
45
AT-101 Approved, Investigational Phase 2, Phase 3 90141-22-3, 652-67-5 12597
46
Isosorbide Dinitrate Approved, Investigational Phase 2, Phase 3 87-33-2 6883
47
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
48
Losartan Approved Phase 3 114798-26-4 3961
49
Atenolol Approved Phase 3 29122-68-7 2249
50
Warfarin Approved Phase 3 81-81-2 6691 54678486

Interventional clinical trials:

(show top 50) (show all 86)
# Name Status NCT ID Phase Drugs
1 Azelnidipine vs Perindopril and Stratification of Blood Pressure Control Against Progress of Cerebral Small Vessel Diseases in Poststroke Patients (APPROVE):Multi-center Randomized Controlled Clinical Trial Unknown status NCT01819441 Phase 4 Azelnidipine;Perindopril;hydrochlorothiazide
2 Lacunar-Brain Infarction Cerebral Hyperactivity And Atorvastatin Trial. A Placebo-Controlled Trial Of High-Dose Atorvastatin In Patients With Cerebral Small Vessel Disease. Completed NCT00163150 Phase 4 Atorvastatin
3 Clinical Observation for the Therapeutic Effect of mNGF on Cognitive Decline in Cerebral Small Vessel Disease Recruiting NCT04041349 Phase 4 mouse nerve growth factor
4 A Multicenter, Randomized, Double Blind Study to Compare the Efficacy Between Cilostazol and Aspirin on White Matter Changes by Cerebral Small Vessel Disease Active, not recruiting NCT01932203 Phase 4 aspirin;cilostazol
5 Relation of Carotid Artery Plaque Inflammation, Covert Stroke and White Matter Disease Terminated NCT01236508 Phase 4
6 High-Dose Corticosteroids for Immune Reconstitution Inflammatory Syndrome in Patients Who Develop Progressive Multifocal Leukoencephalopathy on Natalizumab Terminated NCT01211665 Phase 4 Methylprednisolone;Prednisolone
7 A Random Controlled, Double-Blind Clinical Trial: Remote Ischemic Preconditioning and Cerebral Small Vessel Disease Completed NCT01658306 Phase 3
8 LACunar Intervention (LACI-2) Trial-2: Assessment of Safety and Efficacy of Cilostazol and Isosorbide Mononitrate to Prevent Recurrent Lacunar Stroke and Progression of Cerebral Small Vessel Disease. Recruiting NCT03451591 Phase 2, Phase 3 Isosorbide Mononitrate XL (ISMN);Cilostazol;ISMN XL and Cilostazol
9 EffecTs of Amlodipine and Other Blood PREssure Lowering Agents on Microvascular FuncTion in Small Vessel Diseases Recruiting NCT03082014 Phase 3 Amlodipine;Losartan;Atenolol
10 Start or STop Anticoagulants Randomised Trial (SoSTART) After Spontaneous Intracranial Haemorrhage Recruiting NCT03153150 Phase 3 Apixaban;Rivaroxaban;Edoxaban;Dabigatran;Acenocoumarol;Phenindione;Warfarin
11 Triple Therapy Prevention of Recurrent Intracerebral Disease EveNts Trial (TRIDENT) Cognitive Sub-Study Not yet recruiting NCT03785067 Phase 3 telmisartan 20mg + amlodipine 2.5mg +indapamide 1.25mg;Placebo oral capsule
12 Therapeutic Effects of Maternal Melatonin Administration on Brain Injury and White Matter Disease in Very Preterm Infants Terminated NCT02395783 Phase 2, Phase 3 Melatonin 10 µg;Melatonin 20 µg
13 Preventing Cognitive Decline and Dementia From Cerebral Small Vessel Disease Completed NCT02481323 Phase 2 isosorbide mononitrate;cilostazol
14 The Effect of Tadalafil on Cerebral Large Arteries in Stroke Patients Completed NCT02801032 Phase 2 Tadalafil;Placebo
15 An Open, Comparative Phase II Study of Immediate Versus Delayed Treatment With Topotecan HCl Given as a Continuous 21-Day Infusion Every 28 Days to Patients With AIDS-Related Progressive Multifocal Leukoencephalopathy Completed NCT00002395 Phase 2 Topotecan
16 A Phase II Multicenter Study Comparing Antiretroviral Therapy Alone to Antiretroviral Therapy Plus Cytosine Arabinoside (Cytarabine; Ara-C) for the Treatment of Progressive Multifocal Leukoencephalopathy (PML) in Human Immunodeficiency Virus (HIV)-Infected Subjects Completed NCT00001048 Phase 2 Filgrastim;Cytarabine;Zidovudine;Zalcitabine;Didanosine
17 Early Intensification of Combination Antiretroviral Therapy Including FUZEON® in the Treatment of Progressive Multifocal Leucoencephalopathy During HIV-1 Infection ANRS 125 Trial Completed NCT00120367 Phase 2 Enfuvirtide;Tenofovir-Emtricitabine
18 Trial of Remote Ischemic Pre-Conditioning in Vascular Cognitive Impairment Recruiting NCT04109963 Phase 2
19 Oxford Haemodynamic Adaptation to Reduce Pulsatility: Randomised, Placebo-controlled, Double-blind Crossover Trial of Effects of Sildenafil on Cerebral Arterial Pulsatility in Patients With Cryptogenic or Lacunar Stroke and Small Vessel Disease Recruiting NCT03855332 Phase 2 Sildenafil;Cilostazol;Placebo
20 The Effect and Safety of Programmed Cell Death Protein 1 (PD-1) Inhibitor on AIDS Patients With Progressive Multifocal Leukoencephalopathy (PML): A One-center, Single-arm and Prospective Study Recruiting NCT04091932 Phase 2 Pembrolizumab
21 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
22 Perfusion by Arterial Spin Labelling Following Single Dose Tadalafil in Small Vessel Disease (PASTIS) Trial Active, not recruiting NCT02450253 Phase 2 Tadalafil;Placebo
23 Pilot Study on the Association Choline Alphoscerate-Nimodipine in Patients With Subcortical Vascular Cognitive Impairment Active, not recruiting NCT03228498 Phase 2 Choline alphoscerate;Placebo
24 A Randomized, Rater-Blinded Study to Explore the Effect of Mefloquine in Subjects With Progressive Multifocal Leukoencephalopathy (PML) Terminated NCT00746941 Phase 1, Phase 2 mefloquine
25 Non-invasive Evaluation of Cerebrovascular Reactivity in Spontaneous Intracerebral Hemorrhage Recruiting NCT03815513 Phase 1
26 Evaluation of Cerebral Small Vessel Disease in Patient With Primary Aldosteronism Not yet recruiting NCT03821571 Phase 1
27 Multicenter Retrospective Study of Visit-to-Visit Variability in Blood Pressure as a Predictor of Poor Cognitive Function Unknown status NCT01688505
28 Correlation Exploration Between Cognitive Impairment and Neuroimaging and Inflammatory Markers in Patients With Subcortical Ischemic Vascular Disease Unknown status NCT01418885
29 Cognitive Changes and Rehabilitation in People With Transient Ischemic Attack, Stroke, or Stroke Risk Factors Unknown status NCT01951612
30 Measure of Specific Determinants of the Cerebral Small Vessel Disease in HIV+ Patients Completed NCT02210130
31 Blood-Brain Barrier Permeability Quantification in Cerebral Small Vessel Disease -- Reproducibility of Dynamic Contrast-enhanced MRI Completed NCT02033291
32 Prevalence of Cerebral Small Vessels Disease (CSVD) Among Patients Infected With HIV-1 Completed NCT02082574
33 Impact of tDCS on Cerebral Autoregulation Completed NCT01865604
34 Novel Vascular Manifestations of Chronic Obstructive Pulmonary Disease Completed NCT02060292
35 Stroke Imaging Package Study Completed NCT02485275
36 Achieving Brain Benefits in Covert Stroke Through Aerobic Exercise Completed NCT02068391
37 Retrospective Study of the Survival of Patients Suffering From Hiv-related Progressive Multifocal Leukoencephalopathy Completed NCT02895581
38 Diabetes in Minor Stroke and TIA, Glucose Tolerance and Haemostasis, a Long-term-follow-up Study and Intervention With Yoga Completed NCT01648985
39 A Pilot Study of the Efficacy of Recombinant Alpha Interferon (IFN-A2b) and Zidovudine (AZT) in the Treatment of Progressive Multifocal Leukoencephalopathy (PML) Complicating HIV-1 Infection Completed NCT00002270 Interferon alfa-2b;Zidovudine
40 An Open Label Study Regimen of Videx (2',3'-Dideoxyinosine, ddI) in Patients With Acquired Immunodeficiency Syndrome (AIDS) Exhibiting Significant Deterioration While Taking Zidovudine (Retrovir) Completed NCT00002274 Didanosine
41 Hyperbaric Oxygen Treatment In Patients With White Matter Hyperintensities On Magnetic Resonance Imaging and Neurologic Deficits Completed NCT00497432
42 Role of Inflammation in PML Completed NCT01132053
43 Do CCR5 Antagonists Improve the Overall Survival of Patients With AIDS-related Progressive Multifocal Leucoencephalopathy? Completed NCT03969550
44 Leukodystrophies of Unknown Cause Completed NCT00889174
45 Learning Process of Fifth Years Medical Students During a Psychiatric Role Play : a Mixed Method Study Completed NCT03979300
46 A Pilot Study of the Effect of Cidofovir for the Treatment of Progressive Multifocal Leukoencephalopathy (PML) in Subjects With Acquired Immunodeficiency Syndrome (AIDS) Completed NCT00000945 Cidofovir;Probenecid
47 Initial Efficacy Study of Supporting Play, Exploration, & Early Development Intervention (SPEEDI) - Phase 1 Clinical Trial Completed NCT02153736
48 Learning Process of 5th Year Medical Students During Simulation Training in Psychiatry: a Multicentric Mixed Method Study Completed NCT03983798
49 JC Virus Reactivation in Multiple Sclerosis Completed NCT02004444
50 Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis Completed NCT01114815

Search NIH Clinical Center for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Cochrane evidence based reviews: leukoencephalopathies

Genetic Tests for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Genetic tests related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

# Genetic test Affiliating Genes
1 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 29
2 Cerebroretinal Microangiopathy with Calcifications and Cysts 29

Anatomical Context for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

MalaCards organs/tissues related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

40
Brain, Bone, Liver, Skin, Eye, Retina, T Cells

Publications for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Articles related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

(show all 24)
# Title Authors PMID Year
1
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 61 56 6
22387016 2012
2
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). 61 56 6
18076099 2008
3
Cerebroretinal microangiopathy with calcifications and cysts. 61 56 6
16943371 2006
4
CTC1 Mutations in a patient with dyskeratosis congenita. 56 6
22532422 2012
5
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 56 6
22267198 2012
6
Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. 56 6
15002047 2004
7
Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype. 61 56
21523908 2011
8
Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus. 56
23869908 2013
9
Leukoencephalopathy, cerebral calcifications, and cysts: new observations. 56
15079028 2004
10
A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification. 56
3402627 1988
11
Adult-onset leukoencephalopathy, cerebral calcifications, and cysts: An 8-year neuroimaging follow-up of disease progression and histopathological correlation. 61
31447356 2019
12
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures. 61
30393977 2018
13
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease. 61
28864049 2017
14
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. 61
28177126 2017
15
Cerebroretinal microangiopathy with calcifications and cysts: A case report. 61
28072696 2017
16
Leukoencephalopathy, cerebral calcifications and cysts: a family study. 61
25034270 2014
17
[Neuroimaging findings in cerebroretinal microangiopathy with calcifications and cysts]. 61
24967922 2014
18
Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation. 61
24958462 2014
19
Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations. 61
23220793 2013
20
Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report. 61
23742313 2013
21
Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia. 61
22705805 2013
22
Progressive cerebroretinal microangiopathy with calcifications and cysts syndrome: an unusual cause of complex partial seizure. 61
22834668 2012
23
Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts. 61
21373254 2011
24
Cerebroretinal microangiopathy with calcifications and cysts: demonstration of radiological progression. 61
19638852 2009

Variations for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

ClinVar genetic disease variations for Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

6 (show all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTC1 NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp)SNV Pathogenic 30999 rs373905859 17:8134745-8134745 17:8231427-8231427
2 CTC1 NM_025099.6(CTC1):c.2831del (p.Pro944fs)deletion Pathogenic 31000 rs199473677 17:8133714-8133714 17:8230396-8230396
3 CTC1 NM_025099.6(CTC1):c.3425T>A (p.Leu1142His)SNV Pathogenic 31001 rs201455840 17:8131910-8131910 17:8228592-8228592
4 CTC1 NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)SNV Pathogenic 31002 rs199473676 17:8135745-8135745 17:8232427-8232427
5 CTC1 NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter)SNV Pathogenic 31003 rs199473682 17:8131569-8131569 17:8228251-8228251
6 CTC1 NM_025099.6(CTC1):c.680C>T (p.Ala227Val)SNV Pathogenic 31004 rs199473673 17:8140805-8140805 17:8237487-8237487
7 CTC1 NM_025099.6(CTC1):c.1058del (p.Ser353fs)deletion Pathogenic 31005 rs199473675 17:8139395-8139395 17:8236077-8236077
8 VPS11 NM_021729.5(VPS11):c.2536T>G (p.Cys846Gly)SNV Pathogenic 218366 rs34757931 11:118951899-118951899 11:119081189-119081189
9 CTC1 NM_025099.6(CTC1):c.724_727del (p.Lys242fs)deletion Pathogenic 30995 rs199473674 17:8140758-8140761 17:8237440-8237443
10 CTC1 NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)SNV Pathogenic 30996 rs202138550 17:8133261-8133261 17:8229943-8229943
11 CTC1 NM_025099.6(CTC1):c.2611G>A (p.Val871Met)SNV Pathogenic 30997 rs369255297 17:8134652-8134652 17:8231334-8231334
12 CTC1 NM_025099.6(CTC1):c.859C>T (p.Arg287Ter)SNV Pathogenic 40251 rs397514660 17:8139594-8139594 17:8236276-8236276
13 CTC1 NM_025099.6(CTC1):c.1213del (p.Asp405fs)deletion Pathogenic 434858 rs1444923772 17:8138597-8138597 17:8235279-8235279
14 CTC1 NM_025099.6(CTC1):c.775G>A (p.Val259Met)SNV Pathogenic/Likely pathogenic 30998 rs387907080 17:8140710-8140710 17:8237392-8237392
15 CTC1 NM_025099.6(CTC1):c.2951_2953GTT[1] (p.Cys985del)short repeat Pathogenic/Likely pathogenic 40250 rs199473679 17:8133264-8133266 17:8229946-8229948
16 CTC1 NM_025099.6(CTC1):c.2758+1G>TSNV Likely pathogenic 529185 rs200609323 17:8133880-8133880 17:8230562-8230562
17 CTC1 NM_025099.6(CTC1):c.2996dup (p.Pro999_Glu1000insTer)duplication Likely pathogenic 562199 rs1567599993 17:8133223-8133224 17:8229905-8229906
18 KMT2E NM_182931.3(KMT2E):c.3070C>T (p.Gln1024Ter)SNV Likely pathogenic 617564 rs1562931936 7:104747974-104747974 7:105107527-105107527
19 CTC1 NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)SNV Likely pathogenic 631531 rs199473678 17:8133622-8133622 17:8230304-8230304
20 SCN8A NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)SNV Conflicting interpretations of pathogenicity 523505 rs1555228665 12:52182486-52182486 12:51788702-51788702
21 CTC1 NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)SNV Conflicting interpretations of pathogenicity 459595 rs775779700 17:8135781-8135781 17:8232463-8232463
22 CTC1 NM_025099.6(CTC1):c.862G>A (p.Val288Met)SNV Conflicting interpretations of pathogenicity 459606 rs201553464 17:8139591-8139591 17:8236273-8236273
23 EIF2B5 NM_003907.3(EIF2B5):c.2152T>C (p.Ser718Pro)SNV Uncertain significance 523465 rs138049080 3:183862717-183862717 3:184144929-184144929
24 CTC1 NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp)SNV Uncertain significance 459599 rs771646414 17:8133778-8133778 17:8230460-8230460
25 CTC1 NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)SNV Uncertain significance 210794 rs201891953 17:8135414-8135414 17:8232096-8232096
26 CTC1 NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe)SNV Uncertain significance 529186 rs542477730 17:8133742-8133742 17:8230424-8230424
27 CTC1 NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln)SNV Uncertain significance 803319 17:8135066-8135066 17:8231748-8231748
28 CTC1 NM_025099.6(CTC1):c.248G>A (p.Ser83Asn)SNV Uncertain significance 803320 17:8141897-8141897 17:8238579-8238579
29 ALDH7A1 NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr)SNV Uncertain significance 391931 rs140947675 5:125890029-125890029 5:126554337-126554337
30 CTC1 NM_025099.6(CTC1):c.2973T>C (p.Tyr991=)SNV Benign/Likely benign 412528 rs62637613 17:8133247-8133247 17:8229929-8229929
31 CTC1 NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu)SNV Benign/Likely benign 412529 rs62637610 17:8135452-8135452 17:8232134-8232134

UniProtKB/Swiss-Prot genetic disease variations for Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

73
# Symbol AA change Variation ID SNP ID
1 CTC1 p.Ala227Val VAR_067369 rs199473673
2 CTC1 p.Val259Met VAR_067370 rs387907080
3 CTC1 p.Gly503Arg VAR_067371 rs132080946
4 CTC1 p.Val665Gly VAR_067372 rs199473676
5 CTC1 p.Arg840Trp VAR_067373 rs373905859
6 CTC1 p.Val871Met VAR_067374 rs369255297
7 CTC1 p.Arg975Gly VAR_067375 rs199473678
8 CTC1 p.Arg987Trp VAR_067377 rs202138550
9 CTC1 p.Leu1142His VAR_067378 rs199473681

Expression for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Search GEO for disease gene expression data for Cerebroretinal Microangiopathy with Calcifications and Cysts 1.

Pathways for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

GO Terms for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Cellular components related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.26 STN1 CTC1
2 nuclear chromosome, telomeric region GO:0000784 9.16 STN1 CTC1
3 chromosome, telomeric region GO:0000781 8.96 STN1 CTC1
4 CST complex GO:1990879 8.62 STN1 CTC1

Biological processes related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 telomere maintenance GO:0000723 9.32 STN1 CTC1
2 telomere capping GO:0016233 9.26 STN1 CTC1
3 positive regulation of DNA replication GO:0045740 9.16 STN1 CTC1
4 negative regulation of telomere maintenance via telomerase GO:0032211 8.96 STN1 CTC1
5 telomere maintenance via telomere lengthening GO:0010833 8.62 STN1 CTC1

Molecular functions related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 single-stranded DNA binding GO:0003697 8.96 STN1 CTC1
2 telomeric DNA binding GO:0042162 8.62 STN1 CTC1

Sources for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

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