ICF1
MCID: IMM072
MIFTS: 57

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 (ICF1)

Categories: Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency-Centromeric Instability-Facial Anomalies...

MalaCards integrated aliases for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1:

Name: Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 56 12 73 29 13 6 15
Immunodeficiency Syndrome, Variable 56 71
Chromosomal Instability 43 71
Icf Syndrome 73 54
Icf1 56 73
Ciid 56 73
Immune Deficiency, Variable, with Centromeric Instability of Chromosomes 1, 9, and 16 56
Variable Immune Deficiency with Centromeric Instability of Chromosomes 1 9 and 16 73
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 1 39
Centromeric Instability, Immunodeficiency Syndrome; Ciid 56
Centromeric Instability, Immunodeficiency Syndrome 56
Centromeric Instability Immunodeficiency Syndrome 73
Variable Immunodeficiency Syndrome 73
Common Variable Immunodeficiency 71
Icf Syndrome 1 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations


HPO:

31
immunodeficiency-centromeric instability-facial anomalies syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency-Centromeric Instability-Facial Anomalies...

OMIM : 56 Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients that is explained by mutations in the DNMT3B gene in some, but not all, ICF patients (Hagleitner et al., 2008). (242860)

MalaCards based summary : Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1, also known as immunodeficiency syndrome, variable, is related to immunodeficiency-centromeric instability-facial anomalies syndrome and mutagen sensitivity, and has symptoms including diarrhea An important gene associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 is DNMT3B (DNA Methyltransferase 3 Beta), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex. The drugs Estradiol and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include lung, t cells and bone marrow, and related phenotypes are recurrent respiratory infections and short stature

Disease Ontology : 12 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has material basis in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2.

UniProtKB/Swiss-Prot : 73 Immunodeficiency-centromeric instability-facial anomalies syndrome 1: A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients.

Related Diseases for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Diseases related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 431)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency-centromeric instability-facial anomalies syndrome 32.1 VAMP7 MECP2 DNMT3B DNMT1
2 mutagen sensitivity 30.0 DNMT3B DNMT1
3 rett syndrome 29.2 VAMP7 MECP2 DNMT1
4 radiation sensitivity/chromosome instability syndrome, autosomal dominant 12.5
5 chromosomal instability with tissue-specific radiosensitivity 12.3
6 nijmegen breakage syndrome 12.2
7 nijmegen breakage syndrome-like disorder 12.1
8 colorectal cancer 12.1
9 bloom syndrome 12.1
10 coffin-lowry syndrome 11.6
11 fanconi anemia, complementation group a 11.5
12 down syndrome 11.4
13 fanconi anemia, complementation group c 11.4
14 fanconi anemia, complementation group d2 11.4
15 fanconi anemia, complementation group d1 11.3
16 immunodeficiency, common variable, 10 11.3
17 fanconi anemia, complementation group p 11.3
18 immunodeficiency-centromeric instability-facial anomalies syndrome 2 11.2
19 immunodeficiency-centromeric instability-facial anomalies syndrome 3 11.2
20 immunodeficiency-centromeric instability-facial anomalies syndrome 4 11.2
21 fanconi anemia, complementation group b 11.0
22 fanconi anemia, complementation group e 11.0
23 fanconi anemia, complementation group f 11.0
24 fanconi anemia, complementation group i 11.0
25 fanconi anemia, complementation group j 11.0
26 fanconi anemia, complementation group n 11.0
27 fanconi anemia, complementation group o 11.0
28 fanconi anemia, complementation group g 11.0
29 fanconi anemia, complementation group l 11.0
30 fanconi anemia, complementation group q 11.0
31 fanconi anemia, complementation group t 11.0
32 fanconi anemia, complementation group v 11.0
33 fanconi anemia, complementation group r 11.0
34 fanconi anemia, complementation group u 11.0
35 fanconi anemia, complementation group w 11.0
36 fanconi anemia, complementation group s 11.0
37 ataxia and polyneuropathy, adult-onset 10.5
38 immune deficiency disease 10.5
39 autosomal recessive disease 10.5
40 agammaglobulinemia 10.4
41 polyploidy 10.3
42 microcephaly 10.3
43 adenoma 10.3
44 breast cancer 10.3
45 tetraploidy 10.2
46 retinoblastoma 10.2
47 familial retinoblastoma 10.2
48 bladder cancer 10.2
49 allergic hypersensitivity disease 10.2
50 leukemia 10.2

Comorbidity relations with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 via Phenotypic Disease Network (PDN):


Agammaglobulinemia, X-Linked Bronchitis
Deficiency Anemia Leukemia, Chronic Lymphocytic
Neutropenia

Graphical network of the top 20 diseases related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1:



Diseases related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1

Symptoms & Phenotypes for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Human phenotypes related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 hallmark (90%) HP:0002205
2 short stature 31 hallmark (90%) HP:0004322
3 micrognathia 31 hallmark (90%) HP:0000347
4 abnormality of chromosome stability 31 hallmark (90%) HP:0003220
5 decreased circulating antibody level 31 hallmark (90%) HP:0004313
6 intellectual disability 31 frequent (33%) HP:0001249
7 global developmental delay 31 frequent (33%) HP:0001263
8 depressed nasal bridge 31 frequent (33%) HP:0005280
9 macrocephaly 31 frequent (33%) HP:0000256
10 malabsorption 31 frequent (33%) HP:0002024
11 anemia 31 frequent (33%) HP:0001903
12 lymphopenia 31 frequent (33%) HP:0001888
13 cellular immunodeficiency 31 frequent (33%) HP:0005374
14 abnormality of neutrophils 31 frequent (33%) HP:0001874
15 communicating hydrocephalus 31 frequent (33%) HP:0001334
16 macroglossia 31 occasional (7.5%) HP:0000158
17 hypertelorism 31 occasional (7.5%) HP:0000316
18 umbilical hernia 31 occasional (7.5%) HP:0001537
19 flat face 31 occasional (7.5%) HP:0012368
20 low-set ears 31 occasional (7.5%) HP:0000369
21 epicanthus 31 occasional (7.5%) HP:0000286
22 protruding tongue 31 occasional (7.5%) HP:0010808
23 short nose 31 HP:0003196
24 anteverted nares 31 HP:0000463
25 failure to thrive 31 HP:0001508
26 immunodeficiency 31 HP:0002721
27 sinusitis 31 HP:0000246
28 malar flattening 31 HP:0000272
29 pneumonia 31 HP:0002090
30 diarrhea 31 HP:0002014
31 bronchiectasis 31 HP:0002110
32 decreased circulating iga level 31 HP:0002720
33 increased circulating igm level 31 HP:0003496
34 decrease in t cell count 31 HP:0005403
35 reduced natural killer cell count 31 HP:0040218
36 chronic bronchitis 31 HP:0004469

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
macroglossia
micrognathia
tongue protrusion

Abdomen Gastrointestinal:
malabsorption
diarrhea

Head And Neck Head:
sinusitis

Respiratory Airways:
bronchiectasis
chronic bronchitis

Head And Neck Ears:
low set ears

Growth Height:
below the third percentile

Neurologic Central Nervous System:
variable mental retardation ranging from severe neurodegeneration to mild mental retardation

Head And Neck Face:
hypertelorism
flat face
epicanthal folds

Growth Other:
failure to thrive
head circumference below the third percentile

Respiratory Lung:
pneumonia

Head And Neck Nose:
flat nasal bridge
small upturned nose

Laboratory Abnormalities:
increased igm
reduced iga

Growth Weight:
below the third percentile

Immunology:
reduced number of t cells
reduced number of natural killer cells

Clinical features from OMIM:

242860

UMLS symptoms related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1:


diarrhea

Drugs & Therapeutics for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Drugs for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Clonidine Approved Phase 4 4205-90-7 2803
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
5 Analgesics Phase 4
6 Insulin, Globin Zinc Phase 4
7 insulin Phase 4
8 Hormones Phase 4
9 Hormone Antagonists Phase 4
10 Neurotransmitter Agents Phase 4
11 Adrenergic alpha-Agonists Phase 4
12 Estradiol 17 beta-cypionate Phase 4
13 Mitogens Phase 4
14 Antihypertensive Agents Phase 4
15 Adrenergic Agents Phase 4
16 Estradiol 3-benzoate Phase 4
17 Contraceptive Agents Phase 4
18 Sympatholytics Phase 4
19 Adrenergic Agonists Phase 4
20 Estrogens Phase 4
21 Complement C1 Inactivator Proteins Phase 4
22 Complement C1 Inhibitor Protein Phase 4
23 Complement C1s Phase 4
24 Immunoglobulins Phase 4
25 Antibodies Phase 4
26 Immunoglobulins, Intravenous Phase 4
27 Immunoglobulin G Phase 4
28 Pharmaceutical Solutions Phase 4
29
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
30 Rho(D) Immune Globulin Phase 3
31 gamma-Globulins Phase 3
32
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
33
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
34
Mesna Approved, Investigational Phase 2 3375-50-6 598
35
Melphalan Approved Phase 2 148-82-3 460612 4053
36
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
37
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693 40926
38
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
39
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
40
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
41
Busulfan Approved, Investigational Phase 2 55-98-1 2478
42
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
43
alemtuzumab Approved, Investigational Phase 2 216503-57-0
44
Mycophenolic acid Approved Phase 2 24280-93-1 446541
45
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
46
Bevacizumab Approved, Investigational Phase 2 216974-75-3
47
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
48
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
49 Antiviral Agents Phase 2
50 Interferon alpha-2 Phase 2

Interventional clinical trials:

(show top 50) (show all 72)
# Name Status NCT ID Phase Drugs
1 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 A Phase IV, Multicenter, Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases (PID) in Children and Adolescents Completed NCT01289847 Phase 4
3 Effects of Rifaximin, by Modulation of the Gut Microbiota, on Markers of Systemic Inflammation in Patients With Common Variable Immunodeficiency - An Exploratory Open-label Randomized Controlled Trial Completed NCT01946906 Phase 4 Rifaximin
4 A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID) Completed NCT00520494 Phase 4 Vivaglobin
5 A Single-site, Open-Label, Pilot Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions Recruiting NCT03576469 Phase 4
6 Immunoglobulin Replacement Therapy for Immunoglobulin G Subclass 2 Deficient Patients With Bronchiectasis- A Proof of Concept Study Suspended NCT03737617 Phase 4 Cuvitru 20 % Injectable Solution
7 IGIV-C 10% Rapid Infusion Trial in Primary Immune Deficient Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
8 A Multicenter Study on the Efficacy, Safety and Pharmacokinetics of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
9 An Open Study to Evaluate the Safety and Efficacy of IVIG-F10 in Patients With Primary Immunodeficiency Diseases (PID) Completed NCT00168012 Phase 3 Immunoglobulins Intravenous (Human)
10 A Multicenter Extension Study on the Safety and Efficacy of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
11 A Multi-centre Open Study to Assess the Safety and Efficacy of Subgam® Given Via the Subcutaneous Route in Primary Antibody Deficient Patients. Completed NCT02247141 Phase 3
12 A Multicentre Study of the Efficacy, Tolerability, Safety, and Pharmacokinetics of Immune Globulin Subcutaneous (Human) IgPro20 in Subjects With Primary Immunodeficiency Completed NCT00542997 Phase 3
13 A Phase III, Multicenter, Open-Label Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
14 A Phase III, Multicenter, Open-label, Randomized, Two-Period, Crossover Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
15 A Phase III, Multicenter, Open-Label Study To Evaluate The Efficacy, Safety, and Pharmacokinetics of Gammaplex® in Primary Immunodeficiency Diseases Completed NCT00278954 Phase 3
16 An Open-label, Non-randomized, Within-patient Dose-finding Study Followed by a Randomized, Subject, Investigator and Sponsor-blinded Placebo Controlled Study to Assess the Efficacy and Safety of CDZ173 in Patients With APDS/PASLI Recruiting NCT02435173 Phase 2, Phase 3 CDZ173
17 Clinical and Virological Efficacy of Pegylated Interferon Alpha in the Treatment of Rhinovirus Infection in Patients With Primary Hypogammaglobulinemia: Randomized Controlled Trial Unknown status NCT02661477 Phase 2 pegylated interferon alfa 2
18 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
19 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
20 Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies Recruiting NCT02579967 Phase 2 Immunosuppression Only Conditioning - Closed with amendment L;Reduced Intensity Conditioning;Myeloablative Conditioning-Closed with amendment L;GVHD Prophylaxis
21 Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation Recruiting NCT03663933 Phase 2 Immunosuppression Only Conditioning (IOC);Reduced Intensity Conditioning (RIC);GVHD Prophylaxis
22 An Open-Label Phase I/II Pilot Study to Assess the Safety/Tolerability and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Active, not recruiting NCT02199496 Phase 1, Phase 2
23 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
24 Pembrolizumab in Combination With Xelox Bevacizumab in Patients With Microsatellite Stable Mestatic Colorectal Cancer and a High Immune Infiltrate : a Proof of Concept Study Not yet recruiting NCT04262687 Phase 2 Capecitabine;Oxaliplatin;Bevacizumab;Pembrolizumab
25 A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immunodeficiency Diseases Not yet recruiting NCT04339777 Phase 2 Busulfan test dose;Fludarabine;Busulfan;Alemtuzumab;Tacrolimus (Tacro);Mycophenolate mofetil (MMF);Cyclophosphamide (Cytoxan)
26 Randomised, Multicentric, Phase ii Study of the Immunogenicity of a "Prime Boost" Vaccination Strategy Combining Conjugated Anti- Pneumococcal Vaccine (s0) and Polysaccharide Anti- Pneumococcal Vaccine (s4) Compared to Polysaccharide Anti- Pneumococcal Vaccine Alone (s4) In Patients With Common Variable Immunodeficiency Terminated NCT01489618 Phase 2
27 Clinical Trial to Assess the Efficacy of Rituximab and Azathioprine in the Treatment of Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) in Adult Patients With Common Variable Immunodeficiency (CVID) Withdrawn NCT02789397 Phase 2 Rituximab (RTX) and Azathioprine (AZA);Placebos
28 Single-Arm, Phase II Proof of Concept Study of IDO-1 Inhibitor Epacadostat in Combination With Pembrolizumab in Advanced Pancreatic Cancer With Chromosomal Instability/Homologous Recombination Repair Deficiency (HRD) Withdrawn NCT03432676 Phase 2 Epacadostat
29 Relative Bioavailability of Batch 1 and Batch 2 of the Intended Commercial Formulation of BI 425809 Compared to Each Other and to TF 2 Formulation of BI 425809 Following Oral Administration in Healthy Male and Female Subjects (Randomized, Open-label, Single-dose, Three-treatment, Three-period, Six-sequence Crossover Study) Completed NCT03817476 Phase 1 BI 425809 (Treatment T1);BI 425809 (Treatment T2);BI 425809 (Treatment R)
30 A Pilot Study of Safety and Efficacy of the Oral IL-12/23 Inhibitor, STA-5326 Mesylate, for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Completed NCT00263237 Phase 1 STA-5326
31 Undetectable IgE as a Sentinel Biomarker for Humoral Immunodeficiency Recruiting NCT03968211 Phase 1
32 Investigation of the Lymphocyte Surface Expression of Patients With Primary Immunodeficiency (Common Variable Immunodeficiency (CVID)), Compared to Controls Unknown status NCT01196702
33 Clinical and Molecular Characterization of Familial Microsatellite Stable Colorectal Cancer Unknown status NCT00220246
34 Analysis of Transposon Control Pathways in Germinal Cancers of the Testicle Unknown status NCT02873793
35 Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies Unknown status NCT01981785
36 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of Patients With Ataxia Telangiectasia Unknown status NCT02285348
37 Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia With and Without Substitution of Immunoglobulin G: a Prospective Observational Study Unknown status NCT03357978
38 Genome-wide Single Cell Haplotyping as a Generic Method for Preimplantation Genetic Diagnosis Unknown status NCT01336400
39 Improving the Diagnosis of CVID by Analysis of Innate and Adaptive Signaling Pathways Unknown status NCT02680652
40 Personalizing Colorectal Cancer Medicine: an Integrative Approach for the Identification of Prognostic Parameter Combinations at the Time of Surgery and During the Follow-up Unknown status NCT02274753
41 Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency Completed NCT00004695 PEG-interleukin-2
42 The Immune Basis for the Gastrointestinal Complications of Common Variable Immunodeficiency Completed NCT00015431
43 Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia Completed NCT03427593
44 Effects of Intravenous Human Polyclonal Immunoglobulins G Infusion on Endothelial Function and Insulin Sensitivity in Humans Completed NCT03534479 Polyclonal IgG
45 Gammaglobulins Level is Predictive Factor of Evolution in Sarcoidosis Completed NCT03259282
46 Serum IgG Antibody to Streptococcus Pneumoniae, Haemophilus Influenzae Type b and Tetanus Toxoid in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Infusions Completed NCT00661401
47 Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls Completed NCT02345200
48 Retrospective Study of the Breadth of Donor Options for Patients With Inherited Diseases Requiring Allogeneic Hematopoietic Stem Cell Transplant in the Era of Alternative Donor Transplants Using Post-Transplantation Cyclophosphamide Completed NCT03188419
49 The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease Completed NCT03211689
50 Construction and Validation of a Health-related Quality of Life (HR-QOL) Instrument for Patients With Primary Antibody Deficiency Disease Completed NCT02542228

Search NIH Clinical Center for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1

Cochrane evidence based reviews: chromosomal instability

Genetic Tests for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Genetic tests related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1:

# Genetic test Affiliating Genes
1 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 29 DNMT3B

Anatomical Context for Immunodeficiency-Centromeric Instability-Facial Anomalies...

MalaCards organs/tissues related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1:

40
Lung, T Cells, Bone Marrow, Bone, Liver, Tongue, Colon

Publications for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Articles related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1:

(show top 50) (show all 83)
# Title Authors PMID Year
1
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 6 56 54
10555141 1999
2
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 56 6
10647011 1999
3
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. 56 61
23486536 2013
4
DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function. 56 54
18029387 2008
5
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 56 54
15580563 2005
6
ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation. 56 54
15326630 2004
7
X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis. 54 6
12925568 2003
8
Three novel DNMT3B mutations in Japanese patients with ICF syndrome. 6 54
12239717 2002
9
Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells. 56 54
12189161 2002
10
DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. 54 56
11741835 2001
11
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. 56
26216346 2015
12
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). 56
17893117 2008
13
ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma. 56
17702009 2007
14
A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. 56
15952214 2005
15
Perturbations of chromatin structure in human genetic disease: recent advances. 56
12915455 2003
16
Human diseases with underlying defects in chromatin structure and modification. 56
11673406 2001
17
The ICF syndrome: new case and update. 56
11837609 2001
18
Genetic variation in ICF syndrome: evidence for genetic heterogeneity. 56
11102980 2000
19
Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant. 56
11063717 2000
20
Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. 56
10699183 2000
21
A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves. 56
9783707 1998
22
Localization of the ICF syndrome to chromosome 20 by homozygosity mapping. 56
9718351 1998
23
alpha-satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues. 56
9187666 1997
24
Demethylation of repetitive DNA sequences in neuroblastoma. 56
8946205 1996
25
ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome. 56
7557962 1995
26
Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature. 56
8529685 1995
27
FISH analysis on spontaneously arising micronuclei in the ICF syndrome. 56
7562960 1995
28
Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization. 56
7625446 1995
29
ICF syndrome: a new case and review of the literature. 56
8076938 1994
30
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. 56
8102570 1993
31
ICF syndrome with variable expression in sibs. 56
8320711 1993
32
Interphase cytogenetics of the ICF syndrome. 56
1449239 1992
33
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies. 56
1999836 1991
34
Centromeric heterochromatin instability of chromosomes 1, 9, and 16 in variable immunodeficiency syndrome--a virus-induced phenomenon? 56
2196213 1990
35
Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity? 56
2386052 1990
36
Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts. 56
2746618 1989
37
Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies. 56
2729362 1989
38
Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16. 6
3361388 1988
39
Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. 56
3351904 1988
40
Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome. 56
3568436 1987
41
Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome. 56
4006276 1985
42
Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency. 56
7262865 1981
43
Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. 56
511139 1979
44
A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis. 61
32061411 2020
45
Marker Assisted Gene Pyramiding (MAGP) for bacterial blight and blast resistance into mega rice variety "Tellahamsa". 61
32559183 2020
46
The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1). 61
31686314 2019
47
Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction. 61
31738163 2019
48
The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome. 61
31476899 2019
49
Clinical and Immunological Characterization of ICF Syndrome in Japan. 61
30353301 2018
50
Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome. 61
30010917 2018

Variations for Immunodeficiency-Centromeric Instability-Facial Anomalies...

ClinVar genetic disease variations for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1:

6 (show top 50) (show all 159) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNMT3B NM_006892.4(DNMT3B):c.2450A>G (p.Asp817Gly)SNV Pathogenic 6733 rs121908939 20:31395597-31395597 20:32807791-32807791
2 DNMT3B NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met)SNV Pathogenic 6734 rs121908940 20:31395599-31395599 20:32807793-32807793
3 DNMT3B NM_006892.4(DNMT3B):c.2177T>G (p.Val726Gly)SNV Pathogenic 6735 rs121908941 20:31390222-31390222 20:32802416-32802416
4 DNMT3B NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser)SNV Pathogenic 6736 rs121908942 20:31388722-31388722 20:32800916-32800916
5 DNMT3B DNMT3B, LEU656THRundetermined variant Pathogenic 6737
6 DNMT3B DNMT3B, EX21-22DELdeletion Pathogenic 6738
7 DNMT3B DNMT3B, 1-BP INS, CODON 53insertion Pathogenic 6739
8 DNMT3B NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr)SNV Pathogenic 6740 rs121908943 20:31388006-31388006 20:32800200-32800200
9 DNMT3B NM_006892.4(DNMT3B):c.2421-11G>ASNV Pathogenic 6741 rs547940069 20:31395557-31395557 20:32807751-32807751
10 DNMT3B NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly)SNV Pathogenic 6742 rs121908944 20:31393149-31393149 20:32805343-32805343
11 DNMT3B NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter)SNV Pathogenic 6743 rs121908945 20:31368217-31368217 20:32780411-32780411
12 DNMT3B NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln)SNV Pathogenic 6744 rs121908946 20:31395666-31395666 20:32807860-32807860
13 DNMT3B NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro)SNV Pathogenic 6745 rs121908947 20:31376813-31376813 20:32789007-32789007
14 DNMT3B NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys)SNV Pathogenic 803606 20:31395623-31395623 20:32807817-32807817
15 DNMT3B NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs)deletion Likely pathogenic 657788 20:31394061-31394062 20:32806255-32806256
16 DNMT3B NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=)SNV Conflicting interpretations of pathogenicity 530713 rs143847495 20:31389229-31389229 20:32801423-32801423
17 DNMT3B NM_006892.4(DNMT3B):c.720C>T (p.Pro240=)SNV Conflicting interpretations of pathogenicity 737179 20:31376725-31376725 20:32788919-32788919
18 DNMT3B NM_006892.4(DNMT3B):c.1542C>T (p.Ala514=)SNV Conflicting interpretations of pathogenicity 750677 20:31386317-31386317 20:32798511-32798511
19 DNMT3B NM_006892.4(DNMT3B):c.1490+9T>CSNV Conflicting interpretations of pathogenicity 740848 20:31385114-31385114 20:32797308-32797308
20 DNMT3B NM_006892.4(DNMT3B):c.684C>T (p.Leu228=)SNV Conflicting interpretations of pathogenicity 751570 20:31376689-31376689 20:32788883-32788883
21 DNMT3B NM_006892.4(DNMT3B):c.1957G>A (p.Asp653Asn)SNV Conflicting interpretations of pathogenicity 431922 rs1438362757 20:31388692-31388692 20:32800886-32800886
22 DNMT3B NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile)SNV Conflicting interpretations of pathogenicity 423264 rs145632647 20:31379479-31379479 20:32791673-32791673
23 DNMT3B NM_006892.4(DNMT3B):c.1620G>A (p.Lys540=)SNV Conflicting interpretations of pathogenicity 714897 20:31386395-31386395 20:32798589-32798589
24 DNMT3B NM_006892.4(DNMT3B):c.408C>T (p.Ser136=)SNV Conflicting interpretations of pathogenicity 732894 20:31374409-31374409 20:32786603-32786603
25 DNMT3B NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys)SNV Conflicting interpretations of pathogenicity 338163 rs143462810 20:31383299-31383299 20:32795493-32795493
26 DNMT3B NM_006892.4(DNMT3B):c.516C>T (p.Asp172=)SNV Conflicting interpretations of pathogenicity 338156 rs202113400 20:31375119-31375119 20:32787313-32787313
27 DNMT3B NM_006892.4(DNMT3B):c.1760-8C>TSNV Conflicting interpretations of pathogenicity 338174 rs2424926 20:31387951-31387951 20:32800145-32800145
28 DNMT3B NM_006892.4(DNMT3B):c.143-9C>GSNV Conflicting interpretations of pathogenicity 338152 rs377138079 20:31369150-31369150 20:32781344-32781344
29 DNMT3B NM_006892.4(DNMT3B):c.922-8C>TSNV Conflicting interpretations of pathogenicity 338159 rs200508870 20:31380424-31380424 20:32792618-32792618
30 DNMT3B NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=)SNV Conflicting interpretations of pathogenicity 338161 rs150148922 20:31380545-31380545 20:32792739-32792739
31 DNMT3B NM_006892.4(DNMT3B):c.1996+9C>TSNV Conflicting interpretations of pathogenicity 338183 rs143448185 20:31388740-31388740 20:32800934-32800934
32 DNMT3B NM_006892.4(DNMT3B):c.143-8C>TSNV Conflicting interpretations of pathogenicity 338153 rs200349528 20:31369151-31369151 20:32781345-32781345
33 DNMT3B NM_006892.4(DNMT3B):c.904A>G (p.Met302Val)SNV Uncertain significance 338158 rs768136416 20:31379497-31379497 20:32791691-32791691
34 DNMT3B NM_006892.4(DNMT3B):c.960C>A (p.Ser320Arg)SNV Uncertain significance 338160 rs886056613 20:31380470-31380470 20:32792664-32792664
35 DNMT3B NM_006892.4(DNMT3B):c.1297+10T>CSNV Uncertain significance 338166 rs146299831 20:31383510-31383510 20:32795704-32795704
36 DNMT3B NM_006892.4(DNMT3B):c.*55G>TSNV Uncertain significance 338185 rs148465200 20:31395764-31395764 20:32807958-32807958
37 DNMT3B NM_006892.4(DNMT3B):c.*70G>ASNV Uncertain significance 338186 rs886056618 20:31395779-31395779 20:32807973-32807973
38 DNMT3B NM_006892.4(DNMT3B):c.*90T>GSNV Uncertain significance 338187 rs886056619 20:31395799-31395799 20:32807993-32807993
39 DNMT3B NM_006892.4(DNMT3B):c.*183C>TSNV Uncertain significance 338189 rs886056620 20:31395892-31395892 20:32808086-32808086
40 DNMT3B NM_006892.4(DNMT3B):c.*245dupduplication Uncertain significance 338190 rs886056621 20:31395948-31395949 20:32808142-32808143
41 DNMT3B NM_006892.4(DNMT3B):c.*113G>ASNV Uncertain significance 338188 rs563626929 20:31395822-31395822 20:32808016-32808016
42 DNMT3B NM_006892.4(DNMT3B):c.*577C>TSNV Uncertain significance 338194 rs886056623 20:31396286-31396286 20:32808480-32808480
43 DNMT3B NM_006892.4(DNMT3B):c.*747C>TSNV Uncertain significance 338195 rs553256979 20:31396456-31396456 20:32808650-32808650
44 DNMT3B NM_006892.4(DNMT3B):c.*1350G>CSNV Uncertain significance 338204 rs563126581 20:31397059-31397059 20:32809253-32809253
45 DNMT3B NM_006892.4(DNMT3B):c.*1336G>ASNV Uncertain significance 338203 rs532308734 20:31397045-31397045 20:32809239-32809239
46 DNMT3B NM_006892.4(DNMT3B):c.*1405C>TSNV Uncertain significance 338205 rs547367297 20:31397114-31397114 20:32809308-32809308
47 DNMT3B NM_006892.4(DNMT3B):c.-163A>CSNV Uncertain significance 338149 rs545638472 20:31350349-31350349 20:32762543-32762543
48 DNMT3B NM_006892.4(DNMT3B):c.1760-9C>TSNV Uncertain significance 338172 rs886056615 20:31387950-31387950 20:32800144-32800144
49 DNMT3B NM_006892.4(DNMT3B):c.1804G>A (p.Val602Ile)SNV Uncertain significance 338176 rs752495145 20:31388003-31388003 20:32800197-32800197
50 DNMT3B NM_006892.4(DNMT3B):c.*299deldeletion Uncertain significance 338191 rs3215552 20:31395998-31395998 20:32808192-32808192

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 DNMT3B p.Ala603Thr VAR_011499 rs121908943
2 DNMT3B p.Gly663Ser VAR_011500 rs121908942
3 DNMT3B p.Val726Gly VAR_011501 rs121908941
4 DNMT3B p.Asp817Gly VAR_011503 rs121908939
5 DNMT3B p.Val818Met VAR_011504 rs121908940
6 DNMT3B p.Ala585Val VAR_011506
7 DNMT3B p.Val606Ala VAR_011507 rs867732105
8 DNMT3B p.Val699Gly VAR_011508
9 DNMT3B p.Ala766Pro VAR_011509 rs119120366
10 DNMT3B p.His814Arg VAR_011510 rs121969612
11 DNMT3B p.Ser270Pro VAR_022579 rs121908947
12 DNMT3B p.Leu664Pro VAR_022580
13 DNMT3B p.Arg840Gln VAR_022581 rs121908946
14 DNMT3B p.Ala585Thr VAR_077528 rs750849178

Expression for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Search GEO for disease gene expression data for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1.

Pathways for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Pathways related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.66 MECP2 DNMT3B DNMT1 CBX5
2 10.6 DNMT3B DNMT1
3
Show member pathways
10.52 MECP2 DNMT3B DNMT1
4
Show member pathways
10.27 MECP2 DNMT1

GO Terms for Immunodeficiency-Centromeric Instability-Facial Anomalies...

Cellular components related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pericentric heterochromatin GO:0005721 8.96 DNMT1 CBX5
2 heterochromatin GO:0000792 8.8 MECP2 DNMT1 CBX5

Biological processes related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.63 MYLK2 DNMT3B DNMT1
2 negative regulation of transcription, DNA-templated GO:0045892 9.62 MECP2 DNMT1 CBX5 CBFA2T2
3 regulation of gene expression GO:0010468 9.61 MECP2 DNMT3B DNMT1
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.55 MECP2 DNMT3B DNMT1 CBX5 CBFA2T2
5 negative regulation of gene expression, epigenetic GO:0045814 9.4 DNMT3B DNMT1
6 DNA methylation GO:0006306 9.37 DNMT3B DNMT1
7 positive regulation of histone H3-K4 methylation GO:0051571 9.26 DNMT3B DNMT1
8 negative regulation of histone H3-K9 methylation GO:0051573 8.96 DNMT3B DNMT1
9 C-5 methylation of cytosine GO:0090116 8.62 DNMT3B DNMT1

Molecular functions related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription corepressor activity GO:0003714 9.5 MECP2 DNMT3B CBFA2T2
2 chromatin binding GO:0003682 9.46 MECP2 DNMT3B DNMT1 CBX5
3 methyl-CpG binding GO:0008327 9.26 MECP2 DNMT1
4 DNA-methyltransferase activity GO:0009008 8.96 DNMT3B DNMT1
5 DNA (cytosine-5-)-methyltransferase activity GO:0003886 8.62 DNMT3B DNMT1

Sources for Immunodeficiency-Centromeric Instability-Facial Anomalies...

3 CDC
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11 DGIdb
17 EFO
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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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