ICF
MCID: IMM011
MIFTS: 47

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome (ICF)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

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

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

Name: Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 12 74 52 58 36 15 39
Icf Syndrome 12 74 52 58
Immunodeficiency Syndrome, Variable 52 71
Immune Deficiency, Variable, with Centromeric Instability of Chromosomes 1, 9, and 16 52
Centromeric Instability, Immunodeficiency Syndrome 52
Ciid 52
Icf 74

Characteristics:

Orphanet epidemiological data:

58
icf syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0090007
KEGG 36 H02308
ICD10 32 D84.8
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA2268
UMLS 71 C0398788

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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2268 Definition The Immunodeficiency , Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. Epidemiology ICF has been described in about 50 patients worldwide. Clinical description Other variable symptoms of this probably under-diagnosed syndrome include mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation. Serum levels of IgG, IgM, IgE, and/or IgA are low, although the type of immunoglobulin deficiency is variable. Recurrent infections are the presenting symptom, usually in early childhood. Etiology ICF always involves limited hypomethylation of DNA and often arises from mutations in one of the DNA methyltransferase genes (DNMT3B ). Much of this DNA hypomethylation is in the 1qh, 9qh, and 16qh, regions that are the site of whole-arm deletions , chromatid and chromosome breaks, stretching (decondensation), and multiradial chromosome junctions in mitogen-stimulated lymphocytes . By an unknown mechanism, the DNMT3B deficiency that causes ICF interferes with lymphogenesis (at a step after class switching) or lymphocyte activation. Antenatal diagnosis With the identification of DNMT3B as the affected gene in a majority of ICF patients, prenatal diagnosis of ICF is possible. However, given the variety of DNMT3B mutations, a first-degree affected relative should first have both alleles of this gene sequenced. Management and treatment Treatment almost always includes regular infusions of immunoglobulins, mostly intravenously. Recently, bone marrow transplantation has been tried. Visit the Orphanet disease page for more resources.

MalaCards based summary : Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, also known as icf syndrome, is related to immunodeficiency-centromeric instability-facial anomalies syndrome 2 and immunodeficiency-centromeric instability-facial anomalies syndrome 1, and has symptoms including diarrhea An important gene associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome is ZBTB24 (Zinc Finger And BTB Domain Containing 24), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and One carbon pool by folate. Affiliated tissues include b cells, bone marrow and bone, and related phenotypes are macroglossia and intellectual disability

Disease Ontology : 12 A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases.

KEGG : 36 Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a genetically heterogeneous autosomal recessive disorder. It is characterized by recurrent and often fatal respiratory and gastrointestinal infections as a consequence of hypogammaglobulinemia in the presence of B cells. Nearly all patients also present with distinct facial anomalies. Centromeric instability is the cytogenetic hallmark of ICF syndrome. Mutations in the DNA methyltransferase 3B (DNMT3B) gene account for about 50% of ICF cases, while about 30% of cases have mutations in the ZBTB24 gene. Recently, it has been reported that mutations in CDCA7 and HELLS cause ICF syndrome.

Wikipedia : 74 ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare... more...

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

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

(show top 50) (show all 222)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency-centromeric instability-facial anomalies syndrome 2 35.7 ZBTB24 MICAL1 DNMT3B
2 immunodeficiency-centromeric instability-facial anomalies syndrome 1 35.6 VAMP7 MECP2 DNMT3B DNMT1
3 otopalatodigital syndrome, type i 30.4 MECP2 H3-2 H2AC18
4 chromosome 16p13.3 deletion syndrome, proximal 30.2 SMARCA2 MECP2 H3-2 H2AC18
5 rett syndrome 30.1 VAMP7 MECP2 H2AC18 DNMT1
6 immunodeficiency-centromeric instability-facial anomalies syndrome 3 13.3
7 immunodeficiency-centromeric instability-facial anomalies syndrome 4 13.3
8 coffin-lowry syndrome 11.6
9 immune deficiency disease 10.6
10 back pain 10.5
11 cerebral palsy 10.5
12 spinal cord injury 10.5
13 testicular spermatocytic seminoma 10.5 DNMT3L DNMT3B DNMT3A
14 schizophrenia 7 10.4 SMARCA2 H2AC18
15 traumatic brain injury 10.4
16 adult syndrome 10.4 H2AC18 DNMT3B DNMT3A DNMT1
17 fetal alcohol spectrum disorder 10.4 MECP2 H2AC18 DNMT1
18 lymphosarcoma 10.4 DNMT3A DNMT1
19 epilepsy, familial temporal lobe, 1 10.4 SMARCA2 MICAL1 H2AC18
20 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.4 ZBTB24 DNMT3L DNMT3B DNMT3A DNMT1
21 osteoarthritis 10.4
22 brain injury 10.4
23 agammaglobulinemia 10.4
24 kabuki syndrome 1 10.4 ZBTB24 H3-2 H2AC18 DNMT3B
25 weaver syndrome 10.3 H3-2 H2AC18 DNMT3L DNMT3A
26 mutagen sensitivity 10.3 DNMT3B DNMT1
27 hutchinson-gilford progeria syndrome 10.3 SUV39H1 HELLS H3-2 H2AC18
28 neuropathy, hereditary sensory, type ie 10.3 TRDMT1 H2AC18 DNMT3L DNMT3A DNMT1
29 hereditary lymphedema i 10.3
30 autosomal recessive disease 10.3
31 granulomatous hepatitis 10.3
32 cornelia de lange syndrome 10.3 SMARCA2 MECP2 H3-2 H2AC18
33 spondyloarthropathy 1 10.3
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
35 inflammatory spondylopathy 10.3
36 spondylitis 10.3
37 carbohydrate metabolic disorder 10.3 SUV39H1 H3-2 H2AC18 DNMT3A DNMT1
38 multiple sclerosis 10.2
39 quadriplegia 10.2
40 kagami-ogata syndrome 10.2 MECP2 H3-2 H2AC18
41 sotos syndrome 1 10.2 MECP2 H3-2 H2AC18 DNMT3L DNMT3B DNMT3A
42 pervasive developmental disorder 10.2 MECP2 H3-2 H2AC18 DNMT1
43 attention deficit-hyperactivity disorder 10.2
44 osteoporosis 10.2
45 rheumatoid arthritis 10.2
46 bone mineral density quantitative trait locus 8 10.2
47 bone mineral density quantitative trait locus 15 10.2
48 beckwith-wiedemann syndrome 10.2 XIST H2AC18 DNMT3L DNMT3B DNMT3A DNMT1
49 alpha-thalassemia 10.2 SMARCA2 MECP2 HELLS H3-2 H2AC18 DNMT3L
50 epileptic encephalopathy, early infantile, 14 10.2 SMARCA2 MECP2

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



Diseases related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

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

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

58 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 58 Occasional (29-5%)
2 intellectual disability 58 Frequent (79-30%)
3 global developmental delay 58 Frequent (79-30%)
4 depressed nasal bridge 58 Frequent (79-30%)
5 hypertelorism 58 Occasional (29-5%)
6 macrocephaly 58 Frequent (79-30%)
7 recurrent respiratory infections 58 Very frequent (99-80%)
8 umbilical hernia 58 Occasional (29-5%)
9 malabsorption 58 Frequent (79-30%)
10 short stature 58 Very frequent (99-80%)
11 immunodeficiency 58 Very frequent (99-80%)
12 anemia 58 Frequent (79-30%)
13 flat face 58 Occasional (29-5%)
14 micrognathia 58 Very frequent (99-80%)
15 low-set ears 58 Occasional (29-5%)
16 epicanthus 58 Occasional (29-5%)
17 decreased antibody level in blood 58 Very frequent (99-80%)
18 lymphopenia 58 Frequent (79-30%)
19 abnormality of chromosome stability 58 Very frequent (99-80%)
20 cellular immunodeficiency 58 Frequent (79-30%)
21 protruding tongue 58 Occasional (29-5%)
22 abnormality of neutrophils 58 Frequent (79-30%)
23 communicating hydrocephalus 58 Frequent (79-30%)

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


diarrhea

MGI Mouse Phenotypes related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.28 DNMT1 DNMT3A DNMT3B DNMT3L HELLS MECP2

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

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

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

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

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

40
B Cells, Bone Marrow, Bone, Tongue, Neutrophil, T Cells

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

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

(show top 50) (show all 156)
# Title Authors PMID Year
1
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. 6 61
26216346 2015
2
A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. 61 6
21906047 2012
3
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. 6 61
21596365 2011
4
A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. 61 6
15952214 2005
5
X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis. 61 6
12925568 2003
6
Three novel DNMT3B mutations in Japanese patients with ICF syndrome. 61 6
12239717 2002
7
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 61 6
10647011 1999
8
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 61 6
10555141 1999
9
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies. 6
1999836 1991
10
Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16. 6
3361388 1988
11
Clinical, Immunologic, and Molecular Spectrum of Patients with Immunodeficiency, Centromeric instability, and Facial anomalies (ICF) syndrome: a Systematic Review. 61
32533820 2020
12
DNMT3B deficiency presenting as severe combined immune deficiency: A case report. 61
32360517 2020
13
A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis. 61
32061411 2020
14
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation. 61
31520839 2020
15
Does DNA Methylation Matter in FSHD? 61
32121044 2020
16
Human subtelomeric DNA methylation: regulation and roles in telomere function. 61
32109830 2020
17
The human HELLS chromatin remodelling protein promotes end resection to facilitate homologous recombination and contributes to DSB repair within heterochromatin. 61
31802118 2020
18
DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome. 61
31724723 2019
19
Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction. 61
31738163 2019
20
Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation. 61
31561277 2019
21
Structural basis of specific DNA binding by the transcription factor ZBTB24. 61
31226215 2019
22
A functional assay to classify ZBTB24 missense variants of unknown significance. 61
31066130 2019
23
An acquired high-risk chromosome instability phenotype in multiple myeloma: Jumping 1q Syndrome. 61
31399558 2019
24
[Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review]. 61
30630233 2019
25
CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome. 61
30307408 2019
26
Repetitive Fragile Sites: Centromere Satellite DNA As a Source of Genome Instability in Human Diseases. 61
30544645 2018
27
ZBTB24 is a transcriptional regulator that coordinates with DNMT3B to control DNA methylation. 61
30085123 2018
28
Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features. 61
30511102 2018
29
Clinical and Immunological Characterization of ICF Syndrome in Japan. 61
30353301 2018
30
Pericentromeric hypomethylation elicits an interferon response in an animal model of ICF syndrome. 61
30484769 2018
31
Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome. 61
30010917 2018
32
Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state. 61
29659838 2018
33
HELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome. 61
29339483 2018
34
Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I. 61
28973513 2017
35
Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2. 61
28128455 2017
36
Lsh/HELLS regulates self-renewal/proliferation of neural stem/progenitor cells. 61
28442710 2017
37
Telomeres in ICF syndrome cells are vulnerable to DNA damage due to elevated DNA:RNA hybrids. 61
28117327 2017
38
Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome. 61
28713390 2017
39
Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation. 61
27604394 2016
40
A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF). 61
27734333 2016
41
Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals. 61
27466202 2016
42
Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. 61
27328760 2016
43
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. 61
27153398 2016
44
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey. 61
26851945 2016
45
Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome. 61
26161907 2015
46
Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cells. 61
25027325 2014
47
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2). 61
25330735 2014
48
Dnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for Diseases. 61
25198254 2014
49
Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome. 61
24549038 2014
50
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology. 61
24742017 2014

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

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

6 (show top 50) (show all 65) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNMT3B NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile)SNV Conflicting interpretations of pathogenicity 423264 rs145632647 20:31379479-31379479 20:32791673-32791673
2 DNMT3B NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=)SNV Conflicting interpretations of pathogenicity 530713 rs143847495 20:31389229-31389229 20:32801423-32801423
3 DNMT3B NM_006892.4(DNMT3B):c.408C>T (p.Ser136=)SNV Conflicting interpretations of pathogenicity 732894 20:31374409-31374409 20:32786603-32786603
4 DNMT3B NM_006892.4(DNMT3B):c.720C>T (p.Pro240=)SNV Conflicting interpretations of pathogenicity 737179 20:31376725-31376725 20:32788919-32788919
5 DNMT3B NM_006892.4(DNMT3B):c.1490+9T>CSNV Conflicting interpretations of pathogenicity 740848 20:31385114-31385114 20:32797308-32797308
6 DNMT3B NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys)SNV Conflicting interpretations of pathogenicity 338163 rs143462810 20:31383299-31383299 20:32795493-32795493
7 DNMT3B NM_006892.4(DNMT3B):c.1760-8C>TSNV Conflicting interpretations of pathogenicity 338174 rs2424926 20:31387951-31387951 20:32800145-32800145
8 DNMT3B NM_006892.4(DNMT3B):c.143-9C>GSNV Conflicting interpretations of pathogenicity 338152 rs377138079 20:31369150-31369150 20:32781344-32781344
9 DNMT3B NM_006892.4(DNMT3B):c.922-8C>TSNV Conflicting interpretations of pathogenicity 338159 rs200508870 20:31380424-31380424 20:32792618-32792618
10 DNMT3B NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=)SNV Conflicting interpretations of pathogenicity 338161 rs150148922 20:31380545-31380545 20:32792739-32792739
11 DNMT3B NM_006892.4(DNMT3B):c.1996+9C>TSNV Conflicting interpretations of pathogenicity 338183 rs143448185 20:31388740-31388740 20:32800934-32800934
12 DNMT3B NM_006892.4(DNMT3B):c.1219G>A (p.Gly407Ser)SNV Uncertain significance 338164 rs148646143 20:31383307-31383307 20:32795501-32795501
13 DNMT3B NM_006892.4(DNMT3B):c.290G>A (p.Arg97His)SNV Uncertain significance 530704 rs200902224 20:31372649-31372649 20:32784843-32784843
14 DNMT3B NM_006892.4(DNMT3B):c.1330G>A (p.Val444Met)SNV Uncertain significance 423263 rs201465442 20:31384628-31384628 20:32796822-32796822
15 DNMT3B NM_006892.4(DNMT3B):c.1144C>T (p.Arg382Cys)SNV Uncertain significance 450701 rs35846833 20:31383232-31383232 20:32795426-32795426
16 DNMT3B NM_006892.4(DNMT3B):c.1538C>T (p.Ala513Val)SNV Uncertain significance 579562 rs116943489 20:31386313-31386313 20:32798507-32798507
17 DNMT3B NM_006892.4(DNMT3B):c.1016G>T (p.Gly339Val)SNV Uncertain significance 658822 20:31380526-31380526 20:32792720-32792720
18 DNMT3B NM_006892.4(DNMT3B):c.1088G>A (p.Arg363His)SNV Uncertain significance 643773 20:31381363-31381363 20:32793557-32793557
19 DNMT3B NC_000020.10:g.(?_30795725)_(31395729_?)dupduplication Uncertain significance 832109 20:30795725-31395729
20 DNMT3B NM_006892.4(DNMT3B):c.101C>T (p.Ser34Leu)SNV Uncertain significance 858241 20:31368230-31368230 20:32780424-32780424
21 DNMT3B NM_006892.4(DNMT3B):c.132G>A (p.Pro44=)SNV Uncertain significance 863732 20:31368261-31368261 20:32780455-32780455
22 DNMT3B NM_006892.4(DNMT3B):c.154A>C (p.Ser52Arg)SNV Uncertain significance 849012 20:31369170-31369170 20:32781364-32781364
23 DNMT3B NM_006892.4(DNMT3B):c.274C>T (p.Arg92Trp)SNV Uncertain significance 851975 20:31372633-31372633 20:32784827-32784827
24 DNMT3B NM_006892.4(DNMT3B):c.445C>T (p.Arg149Trp)SNV Uncertain significance 861561 20:31375048-31375048 20:32787242-32787242
25 DNMT3B NM_006892.4(DNMT3B):c.529A>G (p.Thr177Ala)SNV Uncertain significance 863381 20:31375132-31375132 20:32787326-32787326
26 DNMT3B NM_006892.4(DNMT3B):c.930G>C (p.Arg310Ser)SNV Uncertain significance 853590 20:31380440-31380440 20:32792634-32792634
27 DNMT3B NM_006892.4(DNMT3B):c.955A>T (p.Ser319Cys)SNV Uncertain significance 850034 20:31380465-31380465 20:32792659-32792659
28 DNMT3B NM_006892.4(DNMT3B):c.1058C>T (p.Thr353Met)SNV Uncertain significance 848390 20:31380568-31380568 20:32792762-32792762
29 DNMT3B NM_006892.4(DNMT3B):c.1094C>T (p.Ala365Val)SNV Uncertain significance 851875 20:31381369-31381369 20:32793563-32793563
30 DNMT3B NM_006892.4(DNMT3B):c.1615C>T (p.Arg539Trp)SNV Uncertain significance 834668 20:31386390-31386390 20:32798584-32798584
31 DNMT3B NM_006892.4(DNMT3B):c.1775A>G (p.Lys592Arg)SNV Uncertain significance 858133 20:31387974-31387974 20:32800168-32800168
32 DNMT3B NM_006892.4(DNMT3B):c.1868A>G (p.Lys623Arg)SNV Uncertain significance 845008 20:31388067-31388067 20:32800261-32800261
33 DNMT3B NM_006892.4(DNMT3B):c.1873G>A (p.Val625Met)SNV Uncertain significance 851466 20:31388072-31388072 20:32800266-32800266
34 DNMT3B NM_006892.4(DNMT3B):c.2243C>T (p.Ala748Val)SNV Uncertain significance 853864 20:31393155-31393155 20:32805349-32805349
35 DNMT3B NM_006892.4(DNMT3B):c.411C>T (p.Pro137=)SNV Likely benign 785653 20:31374412-31374412 20:32786606-32786606
36 DNMT3B NM_006892.4(DNMT3B):c.459G>A (p.Ser153=)SNV Likely benign 789540 20:31375062-31375062 20:32787256-32787256
37 DNMT3B NM_006892.4(DNMT3B):c.973T>C (p.Leu325=)SNV Likely benign 790930 20:31380483-31380483 20:32792677-32792677
38 DNMT3B NM_006892.4(DNMT3B):c.39C>T (p.Asp13=)SNV Likely benign 712912 20:31368168-31368168 20:32780362-32780362
39 DNMT3B NM_006892.4(DNMT3B):c.1509C>T (p.Cys503=)SNV Likely benign 715431 20:31386284-31386284 20:32798478-32798478
40 DNMT3B NM_006892.4(DNMT3B):c.813+8C>TSNV Likely benign 715699 20:31376826-31376826 20:32789020-32789020
41 DNMT3B NM_006892.4(DNMT3B):c.96C>T (p.Ser32=)SNV Likely benign 723741 20:31368225-31368225 20:32780419-32780419
42 DNMT3B NM_006892.4(DNMT3B):c.732G>A (p.Val244=)SNV Likely benign 461484 rs201520258 20:31376737-31376737 20:32788931-32788931
43 DNMT3B NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu)SNV Likely benign 530707 rs147945634 20:31375211-31375211 20:32787405-32787405
44 DNMT3B NM_006892.4(DNMT3B):c.1218C>T (p.Asn406=)SNV Likely benign 530712 rs875040 20:31383306-31383306 20:32795500-32795500
45 DNMT3B NM_006892.4(DNMT3B):c.2146-6C>TSNV Likely benign 743115 20:31390185-31390185 20:32802379-32802379
46 DNMT3B NM_006892.4(DNMT3B):c.468G>A (p.Thr156=)SNV Likely benign 757285 20:31375071-31375071 20:32787265-32787265
47 DNMT3B NM_006892.4(DNMT3B):c.1662G>A (p.Thr554=)SNV Likely benign 754173 20:31386437-31386437 20:32798631-32798631
48 DNMT3B NM_006892.4(DNMT3B):c.2073G>A (p.Pro691=)SNV Likely benign 797324 20:31389160-31389160 20:32801354-32801354
49 DNMT3B NM_006892.4(DNMT3B):c.1359G>C (p.Gly453=)SNV Likely benign 740164 20:31384657-31384657 20:32796851-32796851
50 DNMT3B NM_006892.4(DNMT3B):c.72C>T (p.Asn24=)SNV Likely benign 749868 20:31368201-31368201 20:32780395-32780395

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

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

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

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

# Super pathways Score Top Affiliating Genes
1 11.91 SUV39H1 SMARCA2 MECP2 HELLS DNMT3B DNMT3A
2
Show member pathways
11.71 DNMT3L DNMT3B DNMT3A DNMT1
3
Show member pathways
11.68 DNMT3B DNMT3A DNMT1
4 11.44 SUV39H1 SMARCA2 DNMT1
5
Show member pathways
10.74 TRDMT1 MECP2 DNMT3B DNMT3A DNMT1
6 10.67 DNMT3B DNMT3A DNMT1
7
Show member pathways
10.48 MECP2 DNMT1

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

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

# Name GO ID Score Top Affiliating Genes
1 pericentric heterochromatin GO:0005721 8.96 HELLS DNMT1
2 heterochromatin GO:0000792 8.92 SUV39H1 MECP2 DNMT3A DNMT1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.95 SUV39H1 SMARCA2 MECP2 DNMT3L DNMT1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.91 ZBTB24 SUV39H1 SMARCA2 MECP2 DNMT3B DNMT3A
3 chromatin organization GO:0006325 9.89 SUV39H1 H2AC18 DNMT3A DNMT1
4 regulation of gene expression GO:0010468 9.88 MECP2 DNMT3B DNMT3A DNMT1
5 methylation GO:0032259 9.72 TRDMT1 SUV39H1 DNMT3B DNMT3A DNMT1
6 negative regulation of gene expression, epigenetic GO:0045814 9.67 DNMT3B DNMT3A DNMT1
7 chromatin silencing GO:0006342 9.63 MECP2 HELLS H2AC18
8 response to vitamin A GO:0033189 9.58 DNMT3B DNMT3A
9 DNA methylation involved in gamete generation GO:0043046 9.57 DNMT3L DNMT3A
10 positive regulation of histone H3-K4 methylation GO:0051571 9.56 DNMT3B DNMT1
11 methylation-dependent chromatin silencing GO:0006346 9.54 HELLS DNMT3A
12 gene silencing GO:0016458 9.52 XIST DNMT1
13 maintenance of DNA methylation GO:0010216 9.51 HELLS DNMT1
14 negative regulation of histone H3-K9 methylation GO:0051573 9.48 DNMT3B DNMT1
15 DNA methylation involved in embryo development GO:0043045 9.43 DNMT3A DNMT1
16 regulation of gene expression by genetic imprinting GO:0006349 9.43 MECP2 DNMT3L DNMT3A
17 positive regulation of DNA methylation GO:1905643 9.4 MECP2 DNMT3L
18 C-5 methylation of cytosine GO:0090116 9.33 DNMT3B DNMT3A DNMT1
19 DNA methylation on cytosine GO:0032776 9.13 DNMT3L DNMT3A DNMT1
20 DNA methylation GO:0006306 9.02 HELLS DNMT3L DNMT3B DNMT3A DNMT1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 ZBTB24 SYCP2 SMARCA2 MECP2 H3-2 H2AC18
2 chromatin binding GO:0003682 9.7 SUV39H1 SMARCA2 MECP2 HELLS DNMT3B DNMT3A
3 methyltransferase activity GO:0008168 9.65 TRDMT1 SUV39H1 DNMT3B DNMT3A DNMT1
4 DNA-methyltransferase activity GO:0009008 9.13 DNMT3B DNMT3A DNMT1
5 DNA (cytosine-5-)-methyltransferase activity GO:0003886 8.8 DNMT3B DNMT3A DNMT1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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