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ICF1
MCID: IMM072
MIFTS: 55

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

Categories: Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Immunodeficiency-Centromeric Instability-Facial Anomalies...

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

Name: Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 58 12 76 13
Immunodeficiency Syndrome, Variable 58 74
Chromosomal Instability 45 74
Icf1 58 76
Ciid 58 76
Immune Deficiency, Variable, with Centromeric Instability of Chromosomes 1, 9, and 16 58
Variable Immune Deficiency with Centromeric Instability of Chromosomes 1 9 and 16 76
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 1 41
Centromeric Instability, Immunodeficiency Syndrome; Ciid 58
Centromeric Instability, Immunodeficiency Syndrome 58
Centromeric Instability Immunodeficiency Syndrome 76
Variable Immunodeficiency Syndrome 76
Common Variable Immunodeficiency 74
Icf Syndrome 1 12
Icf Syndrome 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
immunodeficiency-centromeric instability-facial anomalies syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34


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

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OMIM : 58 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 immunoglobulin g deficiency, 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 Primary immunodeficiency. Affiliated tissues include breast, t cells and b cells, 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 : 76 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.

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

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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 247)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency-centromeric instability-facial anomalies syndrome 32.7 DNMT1 DNMT3B VAMP7
2 immunoglobulin g deficiency 29.4 CD40LG CD79A
3 marginal zone b-cell lymphoma 29.1 CD40LG CD79A
4 radiation sensitivity/chromosome instability syndrome, autosomal dominant 12.3
5 chromosomal instability with tissue-specific radiosensitivity 12.2
6 nijmegen breakage syndrome 12.1
7 bloom syndrome 11.9
8 nijmegen breakage syndrome-like disorder 11.9
9 colorectal cancer 11.4
10 fanconi anemia, complementation group a 11.3
11 fanconi anemia, complementation group c 11.2
12 fanconi anemia, complementation group d1 11.2
13 immunodeficiency, common variable, 10 11.2
14 fanconi anemia, complementation group p 11.2
15 coffin-lowry syndrome 11.1
16 immunodeficiency-centromeric instability-facial anomalies syndrome 2 11.1
17 immunodeficiency-centromeric instability-facial anomalies syndrome 3 11.1
18 immunodeficiency-centromeric instability-facial anomalies syndrome 4 11.1
19 fanconi anemia, complementation group d2 10.9
20 fanconi anemia, complementation group b 10.9
21 fanconi anemia, complementation group e 10.9
22 fanconi anemia, complementation group f 10.9
23 fanconi anemia, complementation group i 10.9
24 fanconi anemia, complementation group j 10.9
25 fanconi anemia, complementation group n 10.9
26 fanconi anemia, complementation group o 10.9
27 fanconi anemia, complementation group g 10.9
28 fanconi anemia, complementation group l 10.9
29 fanconi anemia, complementation group q 10.9
30 fanconi anemia, complementation group t 10.9
31 fanconi anemia, complementation group v 10.9
32 fanconi anemia, complementation group r 10.9
33 fanconi anemia, complementation group u 10.9
34 fanconi anemia, complementation group w 10.9
35 fanconi anemia, complementation group s 10.9
36 common variable immunodeficiency 10.4
37 breast cancer 10.3
38 cervical intraepithelial neoplasia 10.3
39 ataxia-telangiectasia 10.2
40 gastric cancer 10.1
41 mutagen sensitivity 10.1 DNMT1 DNMT3B
42 myelodysplastic syndrome 10.1
43 telangiectasis 10.1
44 bladder cancer 10.0
45 hepatocellular carcinoma 10.0
46 ovarian cancer 10.0
47 retinoblastoma 10.0
48 pancreatic cancer 10.0
49 sarcoma 10.0
50 aging 9.9

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

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

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
hypertelorism
flat face
epicanthal folds

Head And Neck Mouth:
macroglossia
micrognathia
tongue protrusion

Head And Neck Head:
sinusitis

Respiratory Airways:
bronchiectasis
chronic bronchitis

Laboratory Abnormalities:
increased igm
reduced iga

Growth Weight:
below the third percentile

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

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

Abdomen Gastrointestinal:
malabsorption
diarrhea

Respiratory Lung:
pneumonia

Head And Neck Nose:
flat nasal bridge
small upturned nose

Growth Height:
below the third percentile

Head And Neck Ears:
low set ears

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

MGI Mouse Phenotypes related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 CD40LG CD79A DNMT1 DNMT3B MECP2 VAMP7
2 immune system MP:0005387 9.63 CBX5 CD40LG CD79A DNMT1 DNMT3B MECP2
3 nervous system MP:0003631 9.43 CD40LG CD79A DNMT1 DNMT3B MECP2 VAMP7
4 no phenotypic analysis MP:0003012 8.92 CD79A DNMT1 DNMT3B MECP2
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Drugs & Therapeutics for Immunodeficiency-Centromeric Instability-Facial Anomalies...

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study in Healthy People to Test if Taking Different Formulations of BI 425809 Tablets Influences the Amount of BI 425809 in the Blood Active, not recruiting NCT03817476 Phase 1 BI 425809 (Treatment T1);BI 425809 (Treatment T2);BI 425809 (Treatment R)
2 Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus Foot Completed NCT01265238
3 Group Lifestyle Balance™ for Individuals With Stroke (GLB-CVA) Recruiting NCT03873467 Not Applicable

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

Cochrane evidence based reviews: chromosomal instability

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

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

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

42
Breast, T Cells, B Cells, Prostate, Lung, Myeloid, Tongue
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Publications for Immunodeficiency-Centromeric Instability-Facial Anomalies...

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

(show top 50) (show all 330)
# Title Authors Year
1
Chromosomal instability and pro-inflammatory response in aging. ( 31102604 )
2019
2
Depletion of Limiting rDNA Structural Complexes Triggers Chromosomal Instability and Replicative Aging of Saccharomyces cerevisiae. ( 30842210 )
2019
3
Ongoing chromosomal instability and karyotype evolution in human colorectal cancer organoids. ( 31036964 )
2019
4
Glycerophospholipids pathways and chromosomal instability in gastric cancer: Global lipidomics analysis. ( 30918592 )
2019
5
Blocking Mitotic Exit of Ovarian Cancer Cells by Pharmaceutical Inhibition of the Anaphase-Promoting Complex Reduces Chromosomal Instability. ( 30851646 )
2019
6
Lymph node metastasis in oral cancer is strongly associated with chromosomal instability and DNA repair defects. ( 30924133 )
2019
7
Acute Tumor Transition Angle on Computed Tomography Predicts Chromosomal Instability Status of Primary Gastric Cancer: Radiogenomics Analysis from TCGA and Independent Validation. ( 31075839 )
2019
8
Downregulation of NOP53 Ribosome Biogenesis Factor Leads to Abnormal Nuclear Division and Chromosomal Instability in Human Cervical Cancer Cells. ( 30421090 )
2018
9
YAP-associated chromosomal instability and cholangiocarcinoma in mice. ( 29464042 )
2018
10
Metabolomic alterations and chromosomal instability status in gastric cancer. ( 30197481 )
2018
11
Expression-based analyses indicate a central role for hypoxia in driving tumor plasticity through microenvironment remodeling and chromosomal instability. ( 30374409 )
2018
12
Chromosomal instability in oral squamous cell carcinoma. ( 30610780 )
2018
13
Chromosomal instability during neurogenesis in Huntington's disease. ( 29378824 )
2018
14
USP48 May Be Potential Therapeutic Target in Fanconi Anemia: Inactivation of USP48 reduced chromosomal instability of Fanconi anemia defective cells and highlights a role for this enzyme in controlling DNA repair. ( 30242991 )
2018
15
A microsatellite based multiplex PCR method for the detection of chromosomal instability in gastric cancer. ( 30135548 )
2018
16
UBE2C Is a Potential Biomarker of Intestinal-Type Gastric Cancer With Chromosomal Instability. ( 30116193 )
2018
17
CHROMOSOMAL INSTABILITY AS A CYTOGENETIC MARKER IN CHILDREN WITH VARYING DEGREES OF CONTROL OF ASTHMA. ( 30204103 )
2018
18
Independent Mechanisms Lead to Genomic Instability in Hodgkin Lymphoma: Microsatellite or Chromosomal Instability †. ( 30011886 )
2018
19
Chromosomal Instability in Hodgkin Lymphoma: An In-Depth Review and Perspectives. ( 29587466 )
2018
20
Chromosomal instability mapping in meningioma. ( 30610828 )
2018
21
Plk1 overexpression induces chromosomal instability and suppresses tumor development. ( 30069007 )
2018
22
Geraniin selectively promotes cytostasis and apoptosis in human colorectal cancer cells by inducing catastrophic chromosomal instability. ( 30085224 )
2018
23
CHK2 overexpression and mislocalisation within mitotic structures enhances chromosomal instability and hepatocellular carcinoma progression. ( 28360097 )
2018
24
FGF-2 is a driving force for chromosomal instability and a stromal factor associated with adverse clinico-pathological features in prostate cancer. ( 29887238 )
2018
25
PRC1: Linking Cytokinesis, Chromosomal Instability, and Cancer Evolution. ( 29413422 )
2018
26
Telomere shortening, TP53 mutations and deletions in chronic lymphocytic leukemia result in increased chromosomal instability and breakpoint clustering in heterochromatic regions. ( 28691153 )
2017
27
Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly. ( 28199840 )
2017
28
Chromosomal instability analysis and regional tumor heterogeneity in colon cancer. ( 28212810 )
2017
29
Chromosomal instability induced by increased BIRC5/Survivin levels affects tumorigenicity of glioma cells. ( 29282022 )
2017
30
Clinical Significance of DNA Damage Response Factors and Chromosomal Instability in Primary Lung Adenocarcinoma. ( 28373435 )
2017
31
Chromosomal instability and acquired drug resistance in multiple myeloma. ( 29100463 )
2017
32
Epigenetic silencing of miR-137 induces drug resistance and chromosomal instability by targeting AURKA in multiple myeloma. ( 27857131 )
2017
33
Mislocalization of centromeric histone H3 variant CENP-A contributes to chromosomal instability (CIN) in human cells. ( 28596481 )
2017
34
PRL-3 promotes telomere deprotection and chromosomal instability. ( 28482095 )
2017
35
FBW7 Loss Promotes Chromosomal Instability and Tumorigenesis via Cyclin E1/CDK2-Mediated Phosphorylation of CENP-A. ( 28760857 )
2017
36
Genetic and pharmacological inhibition of TTK impairs pancreatic cancer cell line growth by inducing lethal chromosomal instability. ( 28380042 )
2017
37
New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family. ( 28863940 )
2017
38
Sustained expression of miR-26a promotes chromosomal instability and tumorigenesis through regulation of CHFR. ( 28126920 )
2017
39
MIIP haploinsufficiency induces chromosomal instability and promotes tumour progression in colorectal cancer. ( 27741356 )
2017
40
Genomewide copy number analysis of Müllerian adenosarcoma identified chromosomal instability in the aggressive subgroup. ( 27255164 )
2016
41
Loss of Ewing sarcoma EWS allele promotes tumorigenesis by inducing chromosomal instability in zebrafish. ( 27557633 )
2016
42
Chromosomal Instability and Phosphoinositide Pathway Gene Signatures in Glioblastoma Multiforme. ( 25502460 )
2016
43
Establishing a murine xenograft-model for long-term analysis of factors inducing chromosomal instability in myelodysplastic syndrome: Pitfalls and successes. ( 27184732 )
2016
44
Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients. ( 27545893 )
2016
45
Personalised pathway analysis reveals association between DNA repair pathway dysregulation and chromosomal instability in sporadic breast cancer. ( 26456802 )
2016
46
Leukemia and chromosomal instability in aged Fancc-/- mice. ( 26860989 )
2016
47
Telomerase reverse transcriptase expression protects transformed human cells against DNA-damaging agents, and increases tolerance to chromosomal instability. ( 25893297 )
2016
48
MYC copy gain, chromosomal instability and PI3K activation as potential markers of unfavourable outcome in trastuzumab-treated patients with metastatic breast cancer. ( 27184134 )
2016
49
Chromosomal instability in mammalian pre-implantation embryos: potential causes, detection methods, and clinical consequences. ( 26590822 )
2016
50
The putative oncogene CEP72 inhibits the mitotic function of BRCA1 and induces chromosomal instability. ( 26300001 )
2016
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Variations for Immunodeficiency-Centromeric Instability-Facial Anomalies...

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

76 (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

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

6 (show top 50) (show all 199)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNMT3B NM_006892.3(DNMT3B): c.2450A> G (p.Asp817Gly) single nucleotide variant Pathogenic rs121908939 GRCh37 Chromosome 20, 31395597: 31395597
2 DNMT3B NM_006892.3(DNMT3B): c.2450A> G (p.Asp817Gly) single nucleotide variant Pathogenic rs121908939 GRCh38 Chromosome 20, 32807791: 32807791
3 DNMT3B NM_006892.3(DNMT3B): c.2452G> A (p.Val818Met) single nucleotide variant Pathogenic rs121908940 GRCh37 Chromosome 20, 31395599: 31395599
4 DNMT3B NM_006892.3(DNMT3B): c.2452G> A (p.Val818Met) single nucleotide variant Pathogenic rs121908940 GRCh38 Chromosome 20, 32807793: 32807793
5 DNMT3B NM_006892.3(DNMT3B): c.2177T> G (p.Val726Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 31390222: 31390222
6 DNMT3B NM_006892.3(DNMT3B): c.2177T> G (p.Val726Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 32802416: 32802416
7 DNMT3B NM_006892.3(DNMT3B): c.1987G> A (p.Gly663Ser) single nucleotide variant Pathogenic rs121908942 GRCh37 Chromosome 20, 31388722: 31388722
8 DNMT3B NM_006892.3(DNMT3B): c.1987G> A (p.Gly663Ser) single nucleotide variant Pathogenic rs121908942 GRCh38 Chromosome 20, 32800916: 32800916
9 DNMT3B DNMT3B, LEU656THR undetermined variant Pathogenic
10 DNMT3B DNMT3B, EX21-22DEL deletion Pathogenic
11 DNMT3B DNMT3B, 1-BP INS, CODON 53 insertion Pathogenic
12 DNMT3B NM_006892.3(DNMT3B): c.1807G> A (p.Ala603Thr) single nucleotide variant Pathogenic rs121908943 GRCh37 Chromosome 20, 31388006: 31388006
13 DNMT3B NM_006892.3(DNMT3B): c.1807G> A (p.Ala603Thr) single nucleotide variant Pathogenic rs121908943 GRCh38 Chromosome 20, 32800200: 32800200
14 DNMT3B NM_175850.2(DNMT3B): c.2397-11G> A single nucleotide variant Pathogenic rs547940069 GRCh37 Chromosome 20, 31395557: 31395557
15 DNMT3B NM_175850.2(DNMT3B): c.2397-11G> A single nucleotide variant Pathogenic rs547940069 GRCh38 Chromosome 20, 32807751: 32807751
16 DNMT3B NM_006892.3(DNMT3B): c.2237T> G (p.Val746Gly) single nucleotide variant Pathogenic rs121908944 GRCh37 Chromosome 20, 31393149: 31393149
17 DNMT3B NM_006892.3(DNMT3B): c.2237T> G (p.Val746Gly) single nucleotide variant Pathogenic rs121908944 GRCh38 Chromosome 20, 32805343: 32805343
18 DNMT3B NM_006892.3(DNMT3B): c.88C> T (p.Gln30Ter) single nucleotide variant Pathogenic rs121908945 GRCh37 Chromosome 20, 31368217: 31368217
19 DNMT3B NM_006892.3(DNMT3B): c.88C> T (p.Gln30Ter) single nucleotide variant Pathogenic rs121908945 GRCh38 Chromosome 20, 32780411: 32780411
20 DNMT3B NM_006892.3(DNMT3B): c.2519G> A (p.Arg840Gln) single nucleotide variant Pathogenic rs121908946 GRCh37 Chromosome 20, 31395666: 31395666
21 DNMT3B NM_006892.3(DNMT3B): c.2519G> A (p.Arg840Gln) single nucleotide variant Pathogenic rs121908946 GRCh38 Chromosome 20, 32807860: 32807860
22 DNMT3B NM_006892.3(DNMT3B): c.808T> C (p.Ser270Pro) single nucleotide variant Pathogenic rs121908947 GRCh37 Chromosome 20, 31376813: 31376813
23 DNMT3B NM_006892.3(DNMT3B): c.808T> C (p.Ser270Pro) single nucleotide variant Pathogenic rs121908947 GRCh38 Chromosome 20, 32789007: 32789007
24 DNMT3B NM_006892.3(DNMT3B): c.-224C> A single nucleotide variant Uncertain significance rs886056611 GRCh37 Chromosome 20, 31350288: 31350288
25 DNMT3B NM_006892.3(DNMT3B): c.-224C> A single nucleotide variant Uncertain significance rs886056611 GRCh38 Chromosome 20, 32762482: 32762482
26 DNMT3B NM_006892.3(DNMT3B): c.341G> A (p.Arg114Gln) single nucleotide variant Uncertain significance rs546278202 GRCh38 Chromosome 20, 32786536: 32786536
27 DNMT3B NM_006892.3(DNMT3B): c.341G> A (p.Arg114Gln) single nucleotide variant Uncertain significance rs546278202 GRCh37 Chromosome 20, 31374342: 31374342
28 DNMT3B NM_006892.3(DNMT3B): c.1084G> T (p.Val362Leu) single nucleotide variant Uncertain significance rs886056614 GRCh38 Chromosome 20, 32793553: 32793553
29 DNMT3B NM_006892.3(DNMT3B): c.1084G> T (p.Val362Leu) single nucleotide variant Uncertain significance rs886056614 GRCh37 Chromosome 20, 31381359: 31381359
30 DNMT3B NM_006892.3(DNMT3B): c.1211A> G (p.Tyr404Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs143462810 GRCh38 Chromosome 20, 32795493: 32795493
31 DNMT3B NM_006892.3(DNMT3B): c.1211A> G (p.Tyr404Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs143462810 GRCh37 Chromosome 20, 31383299: 31383299
32 DNMT3B NM_006892.3(DNMT3B): c.1219G> A (p.Gly407Ser) single nucleotide variant Uncertain significance rs148646143 GRCh38 Chromosome 20, 32795501: 32795501
33 DNMT3B NM_006892.3(DNMT3B): c.1219G> A (p.Gly407Ser) single nucleotide variant Uncertain significance rs148646143 GRCh37 Chromosome 20, 31383307: 31383307
34 DNMT3B NM_006892.3(DNMT3B): c.1413C> T (p.Asp471=) single nucleotide variant Benign/Likely benign rs6119965 GRCh38 Chromosome 20, 32797222: 32797222
35 DNMT3B NM_006892.3(DNMT3B): c.1413C> T (p.Asp471=) single nucleotide variant Benign/Likely benign rs6119965 GRCh37 Chromosome 20, 31385028: 31385028
36 DNMT3B NM_006892.3(DNMT3B): c.1557G> A (p.Gln519=) single nucleotide variant Conflicting interpretations of pathogenicity rs150314851 GRCh38 Chromosome 20, 32798526: 32798526
37 DNMT3B NM_006892.3(DNMT3B): c.1557G> A (p.Gln519=) single nucleotide variant Conflicting interpretations of pathogenicity rs150314851 GRCh37 Chromosome 20, 31386332: 31386332
38 DNMT3B NM_006892.3(DNMT3B): c.1674T> C (p.Tyr558=) single nucleotide variant Benign rs2424922 GRCh38 Chromosome 20, 32798643: 32798643
39 DNMT3B NM_006892.3(DNMT3B): c.1674T> C (p.Tyr558=) single nucleotide variant Benign rs2424922 GRCh37 Chromosome 20, 31386449: 31386449
40 DNMT3B NM_006892.3(DNMT3B): c.1760-5C> G single nucleotide variant Benign rs1997797 GRCh37 Chromosome 20, 31387954: 31387954
41 DNMT3B NM_006892.3(DNMT3B): c.1760-5C> G single nucleotide variant Benign rs1997797 GRCh38 Chromosome 20, 32800148: 32800148
42 DNMT3B NM_006892.3(DNMT3B): c.1860G> C (p.Gly620=) single nucleotide variant Uncertain significance rs886056616 GRCh37 Chromosome 20, 31388059: 31388059
43 DNMT3B NM_006892.3(DNMT3B): c.1860G> C (p.Gly620=) single nucleotide variant Uncertain significance rs886056616 GRCh38 Chromosome 20, 32800253: 32800253
44 DNMT3B NM_006892.3(DNMT3B): c.1878C> T (p.Asn626=) single nucleotide variant Benign/Likely benign rs17123655 GRCh37 Chromosome 20, 31388077: 31388077
45 DNMT3B NM_006892.3(DNMT3B): c.1878C> T (p.Asn626=) single nucleotide variant Benign/Likely benign rs17123655 GRCh38 Chromosome 20, 32800271: 32800271
46 DNMT3B NM_006892.3(DNMT3B): c.1996+7A> G single nucleotide variant Uncertain significance rs556202476 GRCh37 Chromosome 20, 31388738: 31388738
47 DNMT3B NM_006892.3(DNMT3B): c.1996+7A> G single nucleotide variant Uncertain significance rs556202476 GRCh38 Chromosome 20, 32800932: 32800932
48 DNMT3B NM_006892.3(DNMT3B): c.2311G> A (p.Val771Ile) single nucleotide variant Uncertain significance rs886056617 GRCh37 Chromosome 20, 31394024: 31394024
49 DNMT3B NM_006892.3(DNMT3B): c.2311G> A (p.Val771Ile) single nucleotide variant Uncertain significance rs886056617 GRCh38 Chromosome 20, 32806218: 32806218
50 DNMT3B NM_006892.3(DNMT3B): c.*754G> A single nucleotide variant Uncertain significance rs886056624 GRCh37 Chromosome 20, 31396463: 31396463
Sources

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

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

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

# Super pathways Score Top Affiliating Genes
1
Chromatin Regulation / Acetylation 4
11.66 CBX5 DNMT1 DNMT3B MECP2
2
Primary immunodeficiency 38
10.89 CD40LG CD79A
3
Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex 1
10.6 DNMT1 DNMT3B
4
Macrophage Differentiation and Growth Inhibition by METS 65
Show member pathways
 10.52 DNMT1 DNMT3B MECP2
5
Cytosine methylation 1
Show member pathways
 10.27 DNMT1 MECP2
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GO Terms for Immunodeficiency-Centromeric Instability-Facial Anomalies...

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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 CBX5 DNMT1
2 heterochromatin GO:0000792 8.8 CBX5 DNMT1 MECP2

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 negative regulation of transcription by RNA polymerase II GO:0000122 9.67 CBX5 DNMT1 DNMT3B MECP2
2 negative regulation of transcription, DNA-templated GO:0045892 9.65 CBX5 DNMT1 MECP2
3 regulation of gene expression GO:0010468 9.5 DNMT1 DNMT3B MECP2
4 B cell differentiation GO:0030183 9.46 CD40LG CD79A
5 negative regulation of gene expression, epigenetic GO:0045814 9.43 DNMT1 DNMT3B
6 B cell proliferation GO:0042100 9.4 CD40LG CD79A
7 DNA methylation GO:0006306 9.26 DNMT1 DNMT3B
8 positive regulation of histone H3-K4 methylation GO:0051571 9.16 DNMT1 DNMT3B
9 negative regulation of histone H3-K9 methylation GO:0051573 8.96 DNMT1 DNMT3B
10 C-5 methylation of cytosine GO:0090116 8.62 DNMT1 DNMT3B

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 chromatin binding GO:0003682 9.43 CBX5 DNMT1 DNMT3B
2 methyl-CpG binding GO:0008327 9.16 DNMT1 MECP2
3 DNA-methyltransferase activity GO:0009008 8.96 DNMT1 DNMT3B
4 DNA (cytosine-5-)-methyltransferase activity GO:0003886 8.62 DNMT1 DNMT3B
Sources

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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
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