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 57 74 29 6
Cerebroretinal Microangiopathy with Calcifications and Cysts 57 25 59 29 13 6 72
Coats Plus Syndrome 57 25 59 74 37
Crmcc 57 25 59
Cerebral Small Vessel Diseases 44 72
Crmcc1 57 74
Microangiopathy, Cerebroretinal, with Calcifications and Cysts 40
Cerebral Small Vessel Disease 17
Leukoencephalopathies 44

Characteristics:

Orphanet epidemiological data:

59
coats plus syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cerebroretinal microangiopathy with calcifications and cysts 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:



External Ids:

KEGG 37 H02251
ICD10 via Orphanet 34 H35.0
UMLS via Orphanet 73 C2677299
Orphanet 59 ORPHA313838
UMLS 72 C2677299 C2733158

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 megalencephalic leukoencephalopathy with subcortical cysts 1 and progressive multifocal leukoencephalopathy, 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 : 57 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 : 37
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 : 74 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 : 75 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 1004)
# Related Disease Score Top Affiliating Genes
1 megalencephalic leukoencephalopathy with subcortical cysts 1 12.8
2 progressive multifocal leukoencephalopathy 12.8
3 leukoencephalopathy, hereditary diffuse, with spheroids 12.8
4 leukoencephalopathy with vanishing white matter 12.8
5 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 12.7
6 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 12.7
7 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 12.7
8 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 12.6
9 genetic cerebral small vessel disease 12.6
10 rnase t2-deficient leukoencephalopathy 12.6
11 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 12.6
12 leukoencephalopathy, cystic, without megalencephaly 12.6
13 megalencephalic leukoencephalopathy with subcortical cysts 2a 12.6
14 clcn2-related leukoencephalopathy 12.6
15 htra1-related cerebral small vessel disease 12.6
16 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 12.6
17 leukoencephalopathy with ataxia 12.5
18 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 12.5
19 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 12.5
20 htra1-related autosomal dominant cerebral small vessel disease 12.5
21 col4a1 or col4a2-related cerebral small vessel disease 12.5
22 col4a1 or col4a2-related cerebral small vessel disease with hemorrhagic tendancy 12.5
23 col4a1 or col4a2-related cerebral small vessel disease with ischemic tendancy 12.5
24 leukoencephalopathy with dystonia and motor neuropathy 12.5
25 col4a1-related familial vascular leukoencephalopathy 12.5
26 leukoencephalopathy, progressive, with ovarian failure 12.5
27 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 12.4
28 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 12.4
29 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 12.4
30 leukoencephalopathy palmoplantar keratoderma 12.3
31 leukoencephalopathy with metaphyseal chondrodysplasia 12.2
32 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema 12.2
33 hypomyelinating leukoencephalopathy 12.2
34 csf1r-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 12.2
35 leukoencephalopathy, cerebral calcifications, and cysts 12.2
36 progressive cavitating leukoencephalopathy 12.2
37 pontine autosomal dominant microangiopathy with leukoencephalopathy 12.2
38 muscular dystrophy, adult-onset, with leukoencephalopathy 12.2
39 combined oxidative phosphorylation deficiency 12 12.1
40 leukoencephalopathy-spondylometaphyseal dysplasia syndrome 12.1
41 familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension 12.0
42 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 12.0
43 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 12.0
44 early-onset calcifying leukoencephalopathy-skeletal dysplasia 12.0
45 brain small vessel disease 1 with or without ocular anomalies 12.0
46 mitochondrial dna depletion syndrome 1 12.0
47 mitochondrial complex ii deficiency 11.9
48 cerebral amyloid angiopathy, app-related 11.8
49 mitochondrial dna depletion syndrome 4b 11.8
50 leukoencephalopathy, brain calcifications, and cysts 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:

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
osteoporosis
pathologic fractures
lytic lesions
low trabecular bone volume see on bone biopsy
more
Skeletal Spine:
scoliosis

Head And Neck Eyes:
optic atrophy
blindness
retinal telangiectasia
exudative retinopathy
coats disease
more
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

Neurologic Central Nervous System:
seizures
ataxia
spasticity
dysarthria
tremor
more
Skeletal Limbs:
bowing of the long bones
short femoral neck
metaphyseal sclerosis
genu valga

Growth Height:
short stature

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 180)
# 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
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
5
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
6
Natalizumab Approved, Investigational Phase 4 189261-10-7
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
9
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
12 Sodium Chloride Symporter Inhibitors Phase 4
13 Angiotensin-Converting Enzyme Inhibitors Phase 4
14 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
15 Anticholesteremic Agents Phase 4
16 Analgesics Phase 4
17 Cyclooxygenase Inhibitors Phase 4
18 Analgesics, Non-Narcotic Phase 4
19 Fibrinolytic Agents Phase 4
20 Respiratory System Agents Phase 4
21 Anti-Inflammatory Agents, Non-Steroidal Phase 4
22 Phosphodiesterase Inhibitors Phase 4
23 Anti-Asthmatic Agents Phase 4
24 Platelet Aggregation Inhibitors Phase 4
25 Antipyretics Phase 4
26 Phosphodiesterase 3 Inhibitors Phase 4
27 Antirheumatic Agents Phase 4
28 Bronchodilator Agents Phase 4
29 Cholinergic Agents Phase 4
30 Mitogens Phase 4
31 Neurotransmitter Agents Phase 4
32 Cholinesterase Inhibitors Phase 4
33 Neuroprotective Agents Phase 4
34 Peripheral Nervous System Agents Phase 4
35 Protective Agents Phase 4
36 Anti-Inflammatory Agents Phase 4
37 Autonomic Agents Phase 4
38 Hormones Phase 4
39 Gastrointestinal Agents Phase 4
40 glucocorticoids Phase 4
41 Methylprednisolone Acetate Phase 4
42 Antiemetics Phase 4
43 Antineoplastic Agents, Hormonal Phase 4
44 Hormone Antagonists Phase 4
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
46 Prednisolone acetate Phase 4
47 Fluorodeoxyglucose F18 Phase 4
48 Radiopharmaceuticals Phase 4
49
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
50
Isosorbide Dinitrate Approved, Investigational Phase 2, Phase 3 87-33-2 6883

Interventional clinical trials:

(show top 50) (show all 77)
# 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 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
4 Clinical Observation for the Therapeutic Effect of mNGF on Cognitive Decline in Cerebral Small Vessel Disease Not yet recruiting NCT04041349 Phase 4 mouse nerve growth factor
5 High-Dose Corticosteroids for Immune Reconstitution Inflammatory Syndrome in Patients Who Develop Progressive Multifocal Leukoencephalopathy on Natalizumab Terminated NCT01211665 Phase 4 Methylprednisolone;Prednisolone
6 Relation of Carotid Artery Plaque Inflammation, Covert Stroke and White Matter Disease Terminated NCT01236508 Phase 4
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 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
19 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)
20 Perfusion by Arterial Spin Labelling Following Single Dose Tadalafil in Small Vessel Disease (PASTIS) Trial Active, not recruiting NCT02450253 Phase 2 Tadalafil;Placebo
21 Pilot Study on the Association Choline Alphoscerate-Nimodipine in Patients With Subcortical Vascular Cognitive Impairment Active, not recruiting NCT03228498 Phase 2 Choline alphoscerate;Placebo
22 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
23 Non-invasive Evaluation of Cerebrovascular Reactivity in Spontaneous Intracerebral Hemorrhage Recruiting NCT03815513 Phase 1
24 Evaluation of Cerebral Small Vessel Disease in Patient With Primary Aldosteronism Not yet recruiting NCT03821571 Phase 1
25 Multicenter Retrospective Study of Visit-to-Visit Variability in Blood Pressure as a Predictor of Poor Cognitive Function Unknown status NCT01688505
26 Correlation Exploration Between Cognitive Impairment and Neuroimaging and Inflammatory Markers in Patients With Subcortical Ischemic Vascular Disease Unknown status NCT01418885
27 Cognitive Changes and Rehabilitation in People With Transient Ischemic Attack, Stroke, or Stroke Risk Factors Unknown status NCT01951612
28 Measure of Specific Determinants of the Cerebral Small Vessel Disease in HIV+ Patients Completed NCT02210130
29 Blood-Brain Barrier Permeability Quantification in Cerebral Small Vessel Disease -- Reproducibility of Dynamic Contrast-enhanced MRI Completed NCT02033291
30 Prevalence of Cerebral Small Vessels Disease (CSVD) Among Patients Infected With HIV-1 Completed NCT02082574
31 Impact of tDCS on Cerebral Autoregulation Completed NCT01865604
32 Novel Vascular Manifestations of Chronic Obstructive Pulmonary Disease Completed NCT02060292
33 Stroke Imaging Package Study Completed NCT02485275
34 Achieving Brain Benefits in Covert Stroke Through Aerobic Exercise Completed NCT02068391
35 Retrospective Study of the Survival of Patients Suffering From Hiv-related Progressive Multifocal Leukoencephalopathy Completed NCT02895581
36 Diabetes in Minor Stroke and TIA, Glucose Tolerance and Haemostasis, a Long-term-follow-up Study and Intervention With Yoga Completed NCT01648985
37 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
38 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
39 Role of Inflammation in PML Completed NCT01132053
40 Do CCR5 Antagonists Improve the Overall Survival of Patients With AIDS-related Progressive Multifocal Leucoencephalopathy? Completed NCT03969550
41 Hyperbaric Oxygen Treatment In Patients With White Matter Hyperintensities On Magnetic Resonance Imaging and Neurologic Deficits Completed NCT00497432
42 Leukodystrophies of Unknown Cause Completed NCT00889174
43 Learning Process of Fifth Years Medical Students During a Psychiatric Role Play : a Mixed Method Study Completed NCT03979300
44 Initial Efficacy Study of Supporting Play, Exploration, & Early Development Intervention (SPEEDI) - Phase 1 Clinical Trial Completed NCT02153736
45 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
46 Learning Process of 5th Year Medical Students During Simulation Training in Psychiatry: a Multicentric Mixed Method Study Completed NCT03983798
47 JC Virus Reactivation in Multiple Sclerosis Completed NCT02004444
48 Natural History of CADASIL: Migraine, Diagnosis and Misdiagnosis Completed NCT01114815
49 The Associations of Retinal Microvascular Signs and Brain Imaging Markers With Cognitive Impairment in Patients With Small Vessel Disease Recruiting NCT03542734
50 Renji Cerebral Small Vessel Disease Corhort Study Recruiting NCT03544801

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 CTC1
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:

41
Brain, Bone, Liver, Skin, Eye, Retina, Small Intestine

Publications for Cerebroretinal Microangiopathy with Calcifications and Cysts 1

Articles related to Cerebroretinal Microangiopathy with Calcifications and Cysts 1:

(show all 23)
# Title Authors PMID Year
1
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 38 8 71
22387016 2012
2
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). 38 8 71
18076099 2008
3
Cerebroretinal microangiopathy with calcifications and cysts. 38 8 71
16943371 2006
4
CTC1 Mutations in a patient with dyskeratosis congenita. 8 71
22532422 2012
5
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 8 71
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. 8 71
15002047 2004
7
Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype. 38 8
21523908 2011
8
Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus. 8
23869908 2013
9
Leukoencephalopathy, cerebral calcifications, and cysts: new observations. 8
15079028 2004
10
A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification. 8
3402627 1988
11
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures. 38
30393977 2018
12
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease. 38
28864049 2017
13
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. 38
28177126 2017
14
Cerebroretinal microangiopathy with calcifications and cysts: A case report. 38
28072696 2017
15
Leukoencephalopathy, cerebral calcifications and cysts: a family study. 38
25034270 2014
16
[Neuroimaging findings in cerebroretinal microangiopathy with calcifications and cysts]. 38
24967922 2014
17
Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation. 38
24958462 2014
18
Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations. 38
23220793 2013
19
Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report. 38
23742313 2013
20
Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia. 38
22705805 2013
21
Progressive cerebroretinal microangiopathy with calcifications and cysts syndrome: an unusual cause of complex partial seizure. 38
22834668 2012
22
Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts. 38
21373254 2011
23
Cerebroretinal microangiopathy with calcifications and cysts: demonstration of radiological progression. 38
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 29)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CTC1 NM_025099.6(CTC1): c.1213del (p.Asp405fs) deletion Pathogenic rs1444923772 17:8138597-8138597 17:8235279-8235279
2 CTC1 NM_025099.6(CTC1): c.2518C> T (p.Arg840Trp) single nucleotide variant Pathogenic rs373905859 17:8134745-8134745 17:8231427-8231427
3 CTC1 NM_025099.6(CTC1): c.2831del (p.Pro944fs) deletion Pathogenic rs199473677 17:8133714-8133714 17:8230396-8230396
4 CTC1 NM_025099.6(CTC1): c.3425T> A (p.Leu1142His) single nucleotide variant Pathogenic rs201455840 17:8131910-8131910 17:8228592-8228592
5 CTC1 NM_025099.6(CTC1): c.1994T> G (p.Val665Gly) single nucleotide variant Pathogenic rs199473676 17:8135745-8135745 17:8232427-8232427
6 CTC1 NM_025099.6(CTC1): c.3583C> T (p.Arg1195Ter) single nucleotide variant Pathogenic rs199473682 17:8131569-8131569 17:8228251-8228251
7 CTC1 NM_025099.6(CTC1): c.680C> T (p.Ala227Val) single nucleotide variant Pathogenic rs199473673 17:8140805-8140805 17:8237487-8237487
8 CTC1 NM_025099.6(CTC1): c.1058del (p.Ser353fs) deletion Pathogenic rs199473675 17:8139395-8139395 17:8236077-8236077
9 CTC1 NM_025099.6(CTC1): c.724_727del (p.Lys242fs) deletion Pathogenic rs199473674 17:8140758-8140761 17:8237440-8237443
10 CTC1 NM_025099.6(CTC1): c.2959C> T (p.Arg987Trp) single nucleotide variant Pathogenic rs202138550 17:8133261-8133261 17:8229943-8229943
11 CTC1 NM_025099.6(CTC1): c.2611G> A (p.Val871Met) single nucleotide variant Pathogenic rs369255297 17:8134652-8134652 17:8231334-8231334
12 VPS11 NM_021729.5(VPS11): c.2536T> G (p.Cys846Gly) single nucleotide variant Pathogenic rs34757931 11:118951899-118951899 11:119081189-119081189
13 CTC1 NM_025099.6(CTC1): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic rs397514660 17:8139594-8139594 17:8236276-8236276
14 CTC1 NM_025099.6(CTC1): c.775G> A (p.Val259Met) single nucleotide variant Pathogenic/Likely pathogenic rs387907080 17:8140710-8140710 17:8237392-8237392
15 CTC1 NM_025099.6(CTC1): c.2951_2953GTT[1] (p.Cys985del) short repeat Pathogenic/Likely pathogenic rs199473679 17:8133264-8133266 17:8229946-8229948
16 CTC1 NM_025099.6(CTC1): c.2758+1G> T single nucleotide variant Likely pathogenic rs200609323 17:8133880-8133880 17:8230562-8230562
17 CTC1 NM_025099.6(CTC1): c.2996dup (p.Pro999_Glu1000insTer) duplication Likely pathogenic 17:8133224-8133224 17:8229906-8229906
18 KMT2E NM_182931.3(KMT2E): c.3070C> T (p.Gln1024Ter) single nucleotide variant Likely pathogenic 7:104747974-104747974 7:105107527-105107527
19 CTC1 NM_025099.6(CTC1): c.2923A> G (p.Arg975Gly) single nucleotide variant Likely pathogenic 17:8133622-8133622 17:8230304-8230304
20 SCN8A NM_014191.4(SCN8A): c.4235T> C (p.Phe1412Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1555228665 12:52182486-52182486 12:51788702-51788702
21 CTC1 NM_025099.6(CTC1): c.2192G> A (p.Arg731Gln) single nucleotide variant Uncertain significance rs201891953 17:8135414-8135414 17:8232096-8232096
22 CTC1 NM_025099.6(CTC1): c.2803C> T (p.Leu935Phe) single nucleotide variant Uncertain significance rs542477730 17:8133742-8133742 17:8230424-8230424
23 ALDH7A1 NM_001182.5(ALDH7A1): c.1150G> A (p.Ala384Thr) single nucleotide variant Uncertain significance rs140947675 5:125890029-125890029 5:126554337-126554337
24 CTC1 NM_025099.6(CTC1): c.2767G> T (p.Gly923Trp) single nucleotide variant Uncertain significance rs771646414 17:8133778-8133778 17:8230460-8230460
25 CTC1 NM_025099.6(CTC1): c.1958G> A (p.Arg653Gln) single nucleotide variant Uncertain significance rs775779700 17:8135781-8135781 17:8232463-8232463
26 CTC1 NM_025099.6(CTC1): c.862G> A (p.Val288Met) single nucleotide variant Uncertain significance rs201553464 17:8139591-8139591 17:8236273-8236273
27 EIF2B5 NM_003907.3(EIF2B5): c.2152T> C (p.Ser718Pro) single nucleotide variant Uncertain significance rs138049080 3:183862717-183862717 3:184144929-184144929
28 CTC1 NM_025099.6(CTC1): c.2973T> C (p.Tyr991=) single nucleotide variant Benign/Likely benign rs62637613 17:8133247-8133247 17:8229929-8229929
29 CTC1 NM_025099.6(CTC1): c.2154T> A (p.Asp718Glu) single nucleotide variant Benign/Likely benign rs62637610 17:8135452-8135452 17:8232134-8232134

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

74
# 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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