Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
ICF1
MCID: IMM072
MIFTS: 51

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

Categories: Genetic diseases, Immune diseases, Rare diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

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

About this section

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

Name: Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 57 11 73 28 5 14
Immunodeficiency Syndrome, Variable 57 5 71
Icf1 57 73
Ciid 57 73
Immune Deficiency, Variable, with Centromeric Instability of Chromosomes 1, 9, and 16 57
Variable Immune Deficiency with Centromeric Instability of Chromosomes 1 9 and 16 73
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 1 38
Centromeric Instability, Immunodeficiency Syndrome 57
Centromeric Instability Immunodeficiency Syndrome 73
Variable Immunodeficiency Syndrome 73
Common Variable Immunodeficiency 71
Chromosomal Instability 71
Icf Syndrome 1 11
Icf Syndrome 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases
See all MalaCards categories (disease lists)
ICD10: 31


Sources

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

About this section

OMIM®: 57 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) (Updated 08-Dec-2022)

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 immunodeficiency, common variable, 10, and has symptoms including diarrhea An important gene associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 is DNMT3B (DNA Methyltransferase 3 Beta). The drugs Rifaximin and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, t cells and lung, and related phenotypes are intellectual disability and failure to thrive

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.
Sources

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

About this section

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 128)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency-centromeric instability-facial anomalies syndrome 32.4 TMPRSS9 DNMT3B CDCA7
2 immunodeficiency, common variable, 10 11.4
3 coffin-lowry syndrome 11.1
4 immunodeficiency-centromeric instability-facial anomalies syndrome 2 11.0
5 immunodeficiency-centromeric instability-facial anomalies syndrome 3 11.0
6 immunodeficiency-centromeric instability-facial anomalies syndrome 4 11.0
7 agammaglobulinemia, x-linked 10.4
8 agammaglobulinemia 10.4
9 diarrhea 10.1
10 primary agammaglobulinemia 10.1
11 otitis media 10.0
12 lymphoma 10.0
13 human cytomegalovirus infection 10.0
14 portal hypertension 10.0
15 gastritis 10.0
16 pneumonia 10.0
17 lymphopenia 10.0
18 acquired immunodeficiency syndrome 10.0
19 b-cell lymphoma 10.0
20 atrophic gastritis 10.0
21 functional neutrophil defect 10.0
22 immune deficiency disease 10.0
23 hypertelorism 10.0
24 lymphoma, hodgkin, classic 10.0
25 combined immunodeficiency 10.0
26 heart septal defect 10.0
27 bronchiectasis 10.0
28 muscular dystrophy 10.0
29 pfeiffer syndrome 9.8
30 lymphoma, mucosa-associated lymphoid type 9.8
31 familial adenomatous polyposis 1 9.8
32 retinal detachment 9.8
33 down syndrome 9.8
34 takayasu arteritis 9.8
35 celiac disease 1 9.8
36 epidermodysplasia verruciformis 1 9.8
37 myeloma, multiple 9.8
38 lymphoproliferative syndrome, x-linked, 1 9.8
39 basal cell carcinoma 1 9.8
40 leukemia, acute lymphoblastic 9.8
41 gastric cancer 9.8
42 aspergillosis 9.8
43 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
44 leptin deficiency or dysfunction 9.8
45 leukemia, acute lymphoblastic 3 9.8
46 deficiency anemia 9.8
47 cryptogenic organizing pneumonia 9.8
48 familial adenomatous polyposis 9.8
49 exanthem 9.8
50 diffuse large b-cell lymphoma 9.8

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
Sources

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

About this section

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

30 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 HP:0001249
2 failure to thrive 30 HP:0001508
3 macroglossia 30 HP:0000158
4 depressed nasal bridge 30 HP:0005280
5 hypertelorism 30 HP:0000316
6 malabsorption 30 HP:0002024
7 short nose 30 HP:0003196
8 anteverted nares 30 HP:0000463
9 short stature 30 HP:0004322
10 immunodeficiency 30 HP:0002721
11 sinusitis 30 HP:0000246
12 flat face 30 HP:0012368
13 micrognathia 30 HP:0000347
14 low-set ears 30 HP:0000369
15 epicanthus 30 HP:0000286
16 bronchiectasis 30 HP:0002110
17 protruding tongue 30 HP:0010808
18 malar flattening 30 HP:0000272
19 pneumonia 30 HP:0002090
20 diarrhea 30 HP:0002014
21 decreased circulating iga level 30 HP:0002720
22 increased circulating igm level 30 HP:0003496
23 reduced natural killer cell count 30 HP:0040218
24 chronic bronchitis 30 HP:0004469
25 t lymphocytopenia 30 HP:0005403

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive
head circumference below the third percentile

Head And Neck Face:
hypertelorism
flat face
epicanthal folds

Head And Neck Head:
sinusitis

Respiratory Lung:
pneumonia

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 Mouth:
macroglossia
micrognathia
tongue protrusion

Abdomen Gastrointestinal:
malabsorption
diarrhea

Respiratory Airways:
bronchiectasis
chronic bronchitis

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 (Updated 08-Dec-2022)

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


diarrhea
Sources

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

About this section

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

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifaximin Approved, Investigational Phase 4 80621-81-4 46783403 6436173
2 Immunoglobulin G Phase 4
3 Complement System Proteins Phase 4
4 Complement C1s Phase 4
5 Complement C1 Inhibitor Protein Phase 4
6 Complement C1 Inactivator Proteins Phase 4
7 Immunoglobulins, Intravenous Phase 4
8 gamma-Globulins Phase 4
9 Rho(D) Immune Globulin Phase 4
10 Immunoglobulins Phase 3
11 Antibodies Phase 3
12 Pharmaceutical Solutions Phase 3
13
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4
14
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
15
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
16
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
17
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
18
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
19
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
20
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
21
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693
22
Coenzyme M Approved, Investigational Phase 2 3375-50-6 598 23662354
23
Melphalan Approved Phase 2 148-82-3 4053 460612
24
Abatacept Approved Phase 2 332348-12-6
25
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
26
Fludarabine Approved Phase 1, Phase 2 75607-67-9, 21679-14-1 30751 657237
27
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
28
Fisetin Experimental Phase 2 528-48-3
29 Anti-Infective Agents Phase 2
30 Antiviral Agents Phase 2
31 Interferon alpha-2 Phase 2
32 interferons Phase 2
33 Interferon-alpha Phase 2
34 Dermatologic Agents Phase 1, Phase 2
35 Interleukin-12 Phase 1, Phase 2
36 Anti-Bacterial Agents Phase 2
37 Antitubercular Agents Phase 2
38 Antibiotics, Antitubercular Phase 2
39 Immunologic Factors Phase 2
40 Immune Checkpoint Inhibitors Phase 2
41 Alkylating Agents Phase 1, Phase 2
42 Antineoplastic Agents, Alkylating Phase 1, Phase 2
43 Antilymphocyte Serum Phase 1, Phase 2
44 Thymoglobulin Phase 1, Phase 2
45 Vaccines Phase 2
46 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
47
Xylometazoline Approved, Investigational Phase 1 526-36-3 5709
48
Vidarabine Approved, Investigational 24356-66-9 21704
49
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
50
Prednisone Approved, Vet_approved 53-03-2 5865

Interventional clinical trials:

(show top 50) (show all 52)
# Name Status NCT ID Phase Drugs
1 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
2 A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID) Completed NCT00520494 Phase 4 Vivaglobin
3 A Single-site, Open-Label, Pilot Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions Completed NCT03576469 Phase 4
4 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
5 A Prospective Study of the Utility of Spirometry to Identify and Manage Immunoglobulin Replacement Dosage in Primary Antibody Deficiency in Patients With Potentially Reversible Airway Disease Not yet recruiting NCT05193552 Phase 4 Hizentra
6 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
7 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
8 A Phase III, Multicenter, Open-Label Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
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 Study on the Efficacy, Safety and Pharmacokinetics of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
11 A Multicenter Extension Study on the Safety and Efficacy of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
12 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
13 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 (Leniolisib) in Patients With APDS/PASLI (Activated Phosphoinositide 3-kinase Delta Syndrome/ p110δ-activating Mutation Causing Senescent T Cells, Lymphadenopathy and Immunodeficiency) Completed NCT02435173 Phase 2, Phase 3 CDZ173
14 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
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 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
17 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 Completed NCT02199496 Phase 1, Phase 2
18 A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients With Inborn Errors of Immunity Recruiting NCT04339777 Phase 2 Busulfan test dose;Fludarabine;Busulfan;Alemtuzumab;Tacrolimus (Tacro);Mycophenolate mofetil (MMF);Cyclophosphamide (Cytoxan)
19 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
20 Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation Recruiting NCT03663933 Phase 2 Immunosuppression Only Conditioning;Reduced Intensity Conditioning;GVHD Prophylaxis
21 Abatacept for the Treatment of Common Variable Immunodeficiency With Interstitial Lung Disease Recruiting NCT04925375 Phase 2 Abatacept
22 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
23 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 Active, not recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
24 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
25 Senolytics as a Novel Treatment for Interstitial Lung Disease in Common Variable Immunodeficiency (CVID) Not yet recruiting NCT05593588 Phase 2 Fisetin;Placebo
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 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
30 Investigation of the Lymphocyte Surface Expression of Patients With Primary Immunodeficiency (Common Variable Immunodeficiency (CVID)), Compared to Controls Unknown status NCT01196702
31 Granulomatous-Lymphocytic Interstitial Lung Disease (GLILD) Diagnosed in Children and Young Adults With Common Variable Immunodeficiency Unknown status NCT03648567
32 Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies Unknown status NCT01981785
33 Dynamic Monitor of Serum Chromosomal Instability Detected by UCAD as a Surrogate Biomarker of Treatment Efficacy in PD1 Inhibitor Based Immunotherapy for Lung Cancer Patients Unknown status NCT04203095
34 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
35 Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency Completed NCT00004695 PEG-interleukin-2
36 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
37 The Immune Basis for the Gastrointestinal Complications of Common Variable Immunodeficiency Completed NCT00015431
38 The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease Completed NCT03211689
39 Effects of Intravenous Human Polyclonal Immunoglobulins G Infusion on Endothelial Function and Insulin Sensitivity in Humans Completed NCT03534479 Polyclonal IgG
40 Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia Completed NCT03427593
41 Construction and Validation of a Health-related Quality of Life (HR-QOL) Instrument for Patients With Primary Antibody Deficiency Disease Completed NCT02542228
42 Natural History of Bronchiectasis Recruiting NCT00943514
43 Vaccine-induced SARS-CoV-2-specific T Cell Responses in Patients With Primary Immune Deficiency Disease Recruiting NCT05321407
44 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Fludarabine phosphate 30 mg;MESNA
45 Studies of Immune Regulation in Patients With Common Variable Immunodeficiency and Related Humoral Immunodeficiency Syndromes Recruiting NCT00001244
46 The Role of Chromosomal Instability in Monitoring the Course of Ovarian High-grade Serous Carcinoma Recruiting NCT05310357
47 Improving the Diagnosis of Common Variable Immune Deficiency by Analysis of Innate and Adaptive Signaling Pathways Active, not recruiting NCT03335605
48 Early Detection of Primary Antibody Deficiencies in Primary Care Facilities by an Algorithm Driven Selection of Serologic Testing in Individuals at Risk. Active, not recruiting NCT05310604
49 Composition and Function of Gut Microbiota in Porto-sinusoidal Vascular Disease Associated With Variable Common Immunodeficiency Not yet recruiting NCT05481554
50 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

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

Sources

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

About this section

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

# Genetic test Affiliating Genes
1 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 28 DNMT3B
Sources

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

About this section

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

MalaCards : Bone Marrow, T Cells, Lung, Bone, Tongue, Endothelial, Small Intestine
ODiseA: Blood And Bone Marrow
Sources

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

About this section

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

(show top 50) (show all 276)
# Title Authors PMID Year
1
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 62 57 5
15580563 2005
2
Genetic variation in ICF syndrome: evidence for genetic heterogeneity. 62 57 5
11102980 2000
3
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 62 57 5
10647011 1999
4
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 62 57 5
10555141 1999
5
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. 62 57
26216346 2015
6
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. 62 57
23486536 2013
7
ICF syndrome mutations cause a broad spectrum of biochemical defects in DNMT3B-mediated de novo DNA methylation. 62 5
21549127 2011
8
DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function. 62 57
18029387 2008
9
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). 62 57
17893117 2008
10
ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma. 62 57
17702009 2007
11
Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L. 62 5
16543361 2006
12
A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. 62 57
15952214 2005
13
ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation. 62 57
15326630 2004
14
Perturbations of chromatin structure in human genetic disease: recent advances. 62 57
12915455 2003
15
X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis. 62 5
12925568 2003
16
Three novel DNMT3B mutations in Japanese patients with ICF syndrome. 62 5
12239717 2002
17
Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells. 62 57
12189161 2002
18
DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. 62 57
11741835 2001
19
The ICF syndrome: new case and update. 62 57
11837609 2001
20
Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant. 62 57
11063717 2000
21
Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. 62 57
10699183 2000
22
A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves. 62 57
9783707 1998
23
Localization of the ICF syndrome to chromosome 20 by homozygosity mapping. 62 57
9718351 1998
24
ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome. 62 57
7557962 1995
25
Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature. 62 57
8529685 1995
26
FISH analysis on spontaneously arising micronuclei in the ICF syndrome. 62 57
7562960 1995
27
Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization. 62 57
7625446 1995
28
ICF syndrome: a new case and review of the literature. 62 57
8076938 1994
29
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. 62 57
8102570 1993
30
ICF syndrome with variable expression in sibs. 62 57
8320711 1993
31
Interphase cytogenetics of the ICF syndrome. 62 57
1449239 1992
32
Centromeric heterochromatin instability of chromosomes 1, 9, and 16 in variable immunodeficiency syndrome--a virus-induced phenomenon? 62 57
2196213 1990
33
Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts. 62 57
2746618 1989
34
Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies. 62 57
2729362 1989
35
Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. 62 57
3351904 1988
36
Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases. 5
11919202 2002
37
Human diseases with underlying defects in chromatin structure and modification. 57
11673406 2001
38
alpha-satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues. 57
9187666 1997
39
Demethylation of repetitive DNA sequences in neuroblastoma. 57
8946205 1996
40
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies. 57
1999836 1991
41
Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity? 57
2386052 1990
42
Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16. 5
3361388 1988
43
Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome. 57
3568436 1987
44
Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome. 57
4006276 1985
45
Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency. 57
7262865 1981
46
Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. 57
511139 1979
47
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with distinctive genome-wide DNA hypomethylation. 62
36458887 2022
48
Good Long-Term Outcome Following Liver Transplant in a Patient With Common Variable Immunodeficiency Syndrome Despite Multiple Infections and Recurrent Nodular Regenerative Hyperplasia. 62
36259616 2022
49
[Antibodydeficiencies Epidemiology, Clinical manifestation, Diagnostics and Therapy]. 62
35903831 2022
50
Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery. 62
35996251 2022
Sources

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

About this section

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

5 (show top 50) (show all 432)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNMT3B NM_006892.4(DNMT3B):c.2450A>G (p.Asp817Gly) SNV Pathogenic
 6733 rs121908939 GRCh37: 20:31395597-31395597
GRCh38: 20:32807791-32807791
2 DNMT3B NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met) SNV Pathogenic
 6734 rs121908940 GRCh37: 20:31395599-31395599
GRCh38: 20:32807793-32807793
3 DNMT3B NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser) SNV Pathogenic
 6736 rs121908942 GRCh37: 20:31388722-31388722
GRCh38: 20:32800916-32800916
4 DNMT3B NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) SNV Pathogenic
 6740 rs121908943 GRCh37: 20:31388006-31388006
GRCh38: 20:32800200-32800200
5 DNMT3B NM_006892.4(DNMT3B):c.2421-11G>A SNV Pathogenic
 6741 rs547940069 GRCh37: 20:31395557-31395557
GRCh38: 20:32807751-32807751
6 DNMT3B NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly) SNV Pathogenic
 6742 rs121908944 GRCh37: 20:31393149-31393149
GRCh38: 20:32805343-32805343
7 DNMT3B NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter) SNV Pathogenic
 6743 rs121908945 GRCh37: 20:31368217-31368217
GRCh38: 20:32780411-32780411
8 DNMT3B NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) SNV Pathogenic
 6744 rs121908946 GRCh37: 20:31395666-31395666
GRCh38: 20:32807860-32807860
9 DNMT3B NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro) SNV Pathogenic
 6745 rs121908947 GRCh37: 20:31376813-31376813
GRCh38: 20:32789007-32789007
10 DNMT3B NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) SNV Pathogenic
 803606 rs201579632 GRCh37: 20:31395623-31395623
GRCh38: 20:32807817-32807817
11 DNMT3B NM_006892.4(DNMT3B):c.2246C>A (p.Ser749Ter) SNV Pathogenic
 1453417 GRCh37: 20:31393158-31393158
GRCh38: 20:32805352-32805352
12 DNMT3B NM_006892.4(DNMT3B):c.691G>T (p.Gly231Ter) SNV Pathogenic
 1069118 GRCh37: 20:31376696-31376696
GRCh38: 20:32788890-32788890
13 DNMT3B NM_006892.4(DNMT3B):c.996del (p.Met332fs) DEL Pathogenic
 1070976 GRCh37: 20:31380506-31380506
GRCh38: 20:32792700-32792700
14 DNMT3B NM_006892.4(DNMT3B):c.145C>T (p.Arg49Ter) SNV Pathogenic
 950309 rs1978602545 GRCh37: 20:31369161-31369161
GRCh38: 20:32781355-32781355
15 DNMT3B NM_006892.4(DNMT3B):c.780G>A (p.Trp260Ter) SNV Pathogenic
 958878 rs1979652729 GRCh37: 20:31376785-31376785
GRCh38: 20:32788979-32788979
16 DNMT3B DNMT3B, LEU656THR VAR Pathogenic
 6737 GRCh37:
GRCh38:
17 DNMT3B DNMT3B, EX21-22DEL DEL Pathogenic
 6738 GRCh37:
GRCh38:
18 DNMT3B DNMT3B, 1-BP INS, CODON 53 INSERT Pathogenic
 6739 GRCh37:
GRCh38:
19 DNMT3B NM_006892.4(DNMT3B):c.2177T>G (p.Val726Gly) SNV Pathogenic
 6735 rs121908941 GRCh37: 20:31390222-31390222
GRCh38: 20:32802416-32802416
20 DNMT3B NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs) DEL Likely Pathogenic
Likely Pathogenic
 657788 rs1368779496 GRCh37: 20:31394061-31394062
GRCh38: 20:32806255-32806256
21 DNMT3B NM_006892.4(DNMT3B):c.2441A>G (p.His814Arg) SNV Likely Pathogenic
 1705256 GRCh37: 20:31395588-31395588
GRCh38: 20:32807782-32807782
22 DNMT3B NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser) SNV Likely Pathogenic
Uncertain Significance
 461482 rs759448571 GRCh37: 20:31393204-31393204
GRCh38: 20:32805398-32805398
23 DNMT3B NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly) SNV Likely Pathogenic
 1683645 GRCh37: 20:31395614-31395614
GRCh38: 20:32807808-32807808
24 DNMT3B NM_006892.4(DNMT3B):c.1838T>C (p.Val613Ala) SNV Likely Pathogenic
 952837 rs1568857280 GRCh37: 20:31388037-31388037
GRCh38: 20:32800231-32800231
25 DNMT3B NM_006892.4(DNMT3B):c.2452G>T (p.Val818Leu) SNV Uncertain Significance
 954804 rs121908940 GRCh37: 20:31395599-31395599
GRCh38: 20:32807793-32807793
26 DNMT3B NM_006892.4(DNMT3B):c.2198G>A (p.Arg733Gln) SNV Uncertain Significance
 431923 rs747182299 GRCh37: 20:31390243-31390243
GRCh38: 20:32802437-32802437
27 DNMT3B NM_006892.4(DNMT3B):c.583A>C (p.Ser195Arg) SNV Uncertain Significance
 958456 rs1568840224 GRCh37: 20:31375186-31375186
GRCh38: 20:32787380-32787380
28 DNMT3B NM_006892.4(DNMT3B):c.763A>G (p.Met255Val) SNV Uncertain Significance
 959906 rs996321864 GRCh37: 20:31376768-31376768
GRCh38: 20:32788962-32788962
29 DNMT3B NM_006892.4(DNMT3B):c.2236G>A (p.Val746Met) SNV Uncertain Significance
 962346 rs139777286 GRCh37: 20:31393148-31393148
GRCh38: 20:32805342-32805342
30 DNMT3B NM_006892.4(DNMT3B):c.365G>A (p.Arg122His) SNV Uncertain Significance
 967758 rs757657111 GRCh37: 20:31374366-31374366
GRCh38: 20:32786560-32786560
31 DNMT3B NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) SNV Uncertain Significance
Uncertain Significance
 800927 rs150736372 GRCh37: 20:31384635-31384635
GRCh38: 20:32796829-32796829
32 DNMT3B NM_006892.4(DNMT3B):c.1760-6_1760-5inv INVERS Uncertain Significance
 969461 GRCh37: 20:31387953-31387954
GRCh38: 20:32800147-32800148
33 DNMT3B NM_006892.4(DNMT3B):c.364C>T (p.Arg122Cys) SNV Uncertain Significance
 971034 rs768468807 GRCh37: 20:31374365-31374365
GRCh38: 20:32786559-32786559
34 DNMT3B NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu) SNV Uncertain Significance
Likely Benign
 530707 rs147945634 GRCh37: 20:31375211-31375211
GRCh38: 20:32787405-32787405
35 DNMT3B NM_006892.4(DNMT3B):c.2221G>A (p.Gly741Arg) SNV Uncertain Significance
 998437 rs769823434 GRCh37: 20:31390266-31390266
GRCh38: 20:32802460-32802460
36 DNMT3B NM_006892.4(DNMT3B):c.443G>A (p.Arg148Gln) SNV Uncertain Significance
 1000612 rs1457500486 GRCh37: 20:31375046-31375046
GRCh38: 20:32787240-32787240
37 DNMT3B NM_006892.4(DNMT3B):c.1056C>A (p.Asn352Lys) SNV Uncertain Significance
 1001472 rs1980129917 GRCh37: 20:31380566-31380566
GRCh38: 20:32792760-32792760
38 DNMT3B NM_006892.4(DNMT3B):c.935G>C (p.Arg312Pro) SNV Uncertain Significance
 1002277 rs763435705 GRCh37: 20:31380445-31380445
GRCh38: 20:32792639-32792639
39 DNMT3B NM_006892.4(DNMT3B):c.1760-6_1760-5delinsTG INDEL Uncertain Significance
 1005575 rs1981147588 GRCh37: 20:31387953-31387954
GRCh38: 20:32800147-32800148
40 DNMT3B NM_006892.4(DNMT3B):c.2293A>G (p.Ile765Val) SNV Uncertain Significance
 1009795 rs756320752 GRCh37: 20:31393205-31393205
GRCh38: 20:32805399-32805399
41 DNMT3B NM_006892.4(DNMT3B):c.1040G>T (p.Gly347Val) SNV Uncertain Significance
 1014409 rs770469129 GRCh37: 20:31380550-31380550
GRCh38: 20:32792744-32792744
42 DNMT3B NM_006892.4(DNMT3B):c.377G>C (p.Gly126Ala) SNV Uncertain Significance
 1016232 rs780085636 GRCh37: 20:31374378-31374378
GRCh38: 20:32786572-32786572
43 DNMT3B NM_006892.4(DNMT3B):c.595G>C (p.Gly199Arg) SNV Uncertain Significance
 1018744 rs1979451956 GRCh37: 20:31375198-31375198
GRCh38: 20:32787392-32787392
44 DNMT3B NM_006892.4(DNMT3B):c.1360C>T (p.Leu454Phe) SNV Uncertain Significance
 1023735 rs546965300 GRCh37: 20:31384658-31384658
GRCh38: 20:32796852-32796852
45 DNMT3B NM_006892.4(DNMT3B):c.488G>A (p.Ser163Asn) SNV Uncertain Significance
 1024413 rs577793089 GRCh37: 20:31375091-31375091
GRCh38: 20:32787285-32787285
46 DNMT3B NM_006892.4(DNMT3B):c.2477G>A (p.Arg826His) SNV Uncertain Significance
 1026466 rs756972254 GRCh37: 20:31395624-31395624
GRCh38: 20:32807818-32807818
47 DNMT3B NM_006892.4(DNMT3B):c.85G>A (p.Asp29Asn) SNV Uncertain Significance
 1034541 rs775216151 GRCh37: 20:31368214-31368214
GRCh38: 20:32780408-32780408
48 DNMT3B NM_006892.4(DNMT3B):c.389G>A (p.Arg130His) SNV Uncertain Significance
 1040389 rs773207465 GRCh37: 20:31374390-31374390
GRCh38: 20:32786584-32786584
49 DNMT3B NM_006892.4(DNMT3B):c.2353A>G (p.Lys785Glu) SNV Uncertain Significance
 1042026 rs1981972213 GRCh37: 20:31394066-31394066
GRCh38: 20:32806260-32806260
50 DNMT3B NM_006892.4(DNMT3B):c.2358C>A (p.Asn786Lys) SNV Uncertain Significance
 1043252 rs868828837 GRCh37: 20:31394071-31394071
GRCh38: 20:32806265-32806265

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 rs1191203668
10 DNMT3B p.His814Arg VAR_011510 rs1219696128
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

Sources

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

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

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

About this section
Sources

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

About this section
Sources

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

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....