ICF1
MCID: IMM072
MIFTS: 59

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

Categories: Genetic diseases, Immune diseases, Rare diseases

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

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

Name: Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 57 12 75 13
Immunodeficiency Syndrome, Variable 57 73
Chromosomal Instability 44 73
Icf1 57 75
Ciid 57 75
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 75
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 1 40
Centromeric Instability, Immunodeficiency Syndrome; Ciid 57
Centromeric Instability, Immunodeficiency Syndrome 57
Centromeric Instability Immunodeficiency Syndrome 75
Variable Immunodeficiency Syndrome 75
Common Variable Immunodeficiency 73
Icf Syndrome 1 12
Icf Syndrome 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency-centromeric instability-facial anomalies syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



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

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)

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, liver and t cells, and related phenotypes are macrocephaly and malar flattening

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

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

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

(show top 50) (show all 210)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency-centromeric instability-facial anomalies syndrome 32.6 DNMT1 DNMT3B VAMP7
2 immunoglobulin g deficiency 29.4 CD40LG CD79A
3 marginal zone b-cell lymphoma 29.2 CD40LG CD79A
4 chromosomal instability with tissue-specific radiosensitivity 12.2
5 radiation sensitivity/chromosome instability syndrome, autosomal dominant 12.2
6 nijmegen breakage syndrome 12.0
7 bloom syndrome 11.9
8 nijmegen breakage syndrome-like disorder 11.8
9 colorectal cancer 11.4
10 fanconi anemia, complementation group a 11.3
11 immunodeficiency, common variable, 10 11.1
12 fanconi anemia, complementation group p 11.1
13 immunodeficiency-centromeric instability-facial anomalies syndrome 2 11.1
14 immunodeficiency-centromeric instability-facial anomalies syndrome 3 11.1
15 immunodeficiency-centromeric instability-facial anomalies syndrome 4 11.1
16 coffin-lowry syndrome 11.1
17 immunodeficiency, centromere instability and facial anomalies syndrome 11.1
18 fanconi anemia, complementation group c 10.9
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 d1 10.9
24 fanconi anemia, complementation group i 10.9
25 fanconi anemia, complementation group j 10.9
26 fanconi anemia, complementation group n 10.9
27 fanconi anemia, complementation group o 10.9
28 fanconi anemia, complementation group g 10.9
29 fanconi anemia, complementation group l 10.9
30 fanconi anemia, complementation group q 10.9
31 fanconi anemia, complementation group t 10.9
32 fanconi anemia, complementation group v 10.9
33 fanconi anemia, complementation group r 10.9
34 fanconi anemia, complementation group u 10.9
35 fanconi anemia, complementation group w 10.9
36 fanconi anemia, complementation group s 10.9
37 common variable immunodeficiency 10.4
38 breast cancer 10.3
39 cervical intraepithelial neoplasia 10.3
40 ataxia-telangiectasia 10.1
41 mutagen sensitivity 10.1 DNMT1 DNMT3B
42 gastric cancer 10.0
43 bladder cancer 10.0
44 hepatocellular carcinoma 10.0
45 ovarian cancer 10.0
46 pancreatic cancer 10.0
47 c1q nephropathy 9.9 CD40LG CD79A
48 cryofibrinogenemia 9.9 CD40LG CD79A
49 heparin-induced thrombocytopenia 9.9 CD40LG CD79A
50 immunoglobulin a deficiency 1 9.9 CD40LG CD79A

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


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

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



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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
hypertelorism
flat face
epicanthal folds

Head And Neck Mouth:
macroglossia
micrognathia
tongue protrusion

Head And Neck Head:
sinusitis

Respiratory Lung:
pneumonia

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 Airways:
bronchiectasis
chronic bronchitis

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

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

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

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


diarrhea

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

46
# 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

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

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 Not yet 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

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

Cochrane evidence based reviews: chromosomal instability

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

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

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

41
Breast, Liver, T Cells, Lung, Bone, Colon, Tongue

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

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

(show top 50) (show all 286)
# Title Authors Year
1
CHK2 overexpression and mislocalisation within mitotic structures enhances chromosomal instability and hepatocellular carcinoma progression. ( 28360097 )
2018
2
Chromosomal instability during neurogenesis in Huntington's disease. ( 29378824 )
2018
3
CHROMOSOMAL INSTABILITY AS A CYTOGENETIC MARKER IN CHILDREN WITH VARYING DEGREES OF CONTROL OF ASTHMA. ( 30204103 )
2018
4
Downregulation of NOP53 Ribosome Biogenesis Factor Leads to Abnormal Nuclear Division and Chromosomal Instability in Human Cervical Cancer Cells. ( 30421090 )
2018
5
YAP-associated chromosomal instability and cholangiocarcinoma in mice. ( 29464042 )
2018
6
Metabolomic alterations and chromosomal instability status in gastric cancer. ( 30197481 )
2018
7
UBE2C Is a Potential Biomarker of Intestinal-Type Gastric Cancer With Chromosomal Instability. ( 30116193 )
2018
8
A microsatellite based multiplex PCR method for the detection of chromosomal instability in gastric cancer. ( 30135548 )
2018
9
Expression-based analyses indicate a central role for hypoxia in driving tumor plasticity through microenvironment remodeling and chromosomal instability. ( 30374409 )
2018
10
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
11
Independent Mechanisms Lead to Genomic Instability in Hodgkin Lymphoma: Microsatellite or Chromosomal Instability †. ( 30011886 )
2018
12
Chromosomal Instability in Hodgkin Lymphoma: An In-Depth Review and Perspectives. ( 29587466 )
2018
13
FGF-2 is a driving force for chromosomal instability and a stromal factor associated with adverse clinico-pathological features in prostate cancer. ( 29887238 )
2018
14
PRC1: Linking Cytokinesis, Chromosomal Instability, and Cancer Evolution. ( 29413422 )
2018
15
PRL-3 promotes telomere deprotection and chromosomal instability. ( 28482095 )
2017
16
MIIP haploinsufficiency induces chromosomal instability and promotes tumour progression in colorectal cancer. ( 27741356 )
2017
17
FBW7 Loss Promotes Chromosomal Instability and Tumorigenesis via Cyclin E1/CDK2-Mediated Phosphorylation of CENP-A. ( 28760857 )
2017
18
Clinical Significance of DNA Damage Response Factors and Chromosomal Instability in Primary Lung Adenocarcinoma. ( 28373435 )
2017
19
Epigenetic silencing of miR-137 induces drug resistance and chromosomal instability by targeting AURKA in multiple myeloma. ( 27857131 )
2017
20
Sustained expression of miR-26a promotes chromosomal instability and tumorigenesis through regulation of CHFR. ( 28126920 )
2017
21
Telomere shortening, TP53 mutations and deletions in chronic lymphocytic leukemia result in increased chromosomal instability and breakpoint clustering in heterochromatic regions. ( 28691153 )
2017
22
New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family. ( 28863940 )
2017
23
Genetic and pharmacological inhibition of TTK impairs pancreatic cancer cell line growth by inducing lethal chromosomal instability. ( 28380042 )
2017
24
Mislocalization of centromeric histone H3 variant CENP-A contributes to chromosomal instability (CIN) in human cells. ( 28596481 )
2017
25
Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly. ( 28199840 )
2017
26
Chromosomal instability induced by increased BIRC5/Survivin levels affects tumorigenicity of glioma cells. ( 29282022 )
2017
27
Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients. ( 27545893 )
2016
28
Chromosomal instability in mammalian pre-implantation embryos: potential causes, detection methods, and clinical consequences. ( 26590822 )
2016
29
Effect of EGFR and p-AKT Overexpression on Chromosomal Instability in Gastric Cancer. ( 26847684 )
2016
30
Reduced cohesin destabilizes high-level gene amplification by disrupting pre-replication complex bindings in human cancers with chromosomal instability. ( 26420833 )
2016
31
Establishing a murine xenograft-model for long-term analysis of factors inducing chromosomal instability in myelodysplastic syndrome: Pitfalls and successes. ( 27184732 )
2016
32
The putative oncogene CEP72 inhibits the mitotic function of BRCA1 and induces chromosomal instability. ( 26300001 )
2016
33
Loss of Ewing sarcoma EWS allele promotes tumorigenesis by inducing chromosomal instability in zebrafish. ( 27557633 )
2016
34
MYC copy gain, chromosomal instability and PI3K activation as potential markers of unfavourable outcome in trastuzumab-treated patients with metastatic breast cancer. ( 27184134 )
2016
35
Genomewide copy number analysis of MA1llerian adenosarcoma identified chromosomal instability in the aggressive subgroup. ( 27255164 )
2016
36
CNS germinomas are characterized by global demethylation, chromosomal instability and mutational activation of the Kit-, Ras/Raf/Erk- and Akt-pathways. ( 27391150 )
2016
37
Telomerase reverse transcriptase expression protects transformed human cells against DNA-damaging agents, and increases tolerance to chromosomal instability. ( 25893297 )
2016
38
DNA damage response curtails detrimental replication stress and chromosomal instability induced by the dietary carcinogen PhIP. ( 27599846 )
2016
39
Chromosomal Instability and Phosphoinositide Pathway Gene Signatures in Glioblastoma Multiforme. ( 25502460 )
2016
40
The inner centromere-shugoshin network prevents chromosomal instability. ( 26359403 )
2015
41
High level of chromosomal instability in circulating tumor cells of ROS1-rearranged non-small-cell lung cancer. ( 25846554 )
2015
42
Mitochondrial ribosomal protein S18-2 evokes chromosomal instability and transforms primary rat skin fibroblasts. ( 26023799 )
2015
43
Telomere Dysfunction, Chromosomal Instability and Cancer. ( 26376872 )
2015
44
Proteins of the mitotic checkpoint and spindle are related to chromosomal instability and unfavourable prognosis in patients with myelodysplastic syndrome. ( 25637637 )
2015
45
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. ( 25437880 )
2015
46
Nuclear accumulation of annexin A2 contributes to chromosomal instability by coilin-mediated centromere damage. ( 25347736 )
2015
47
Kinase-independent role of cyclin D1 in chromosomal instability and mammary tumorigenesis. ( 25940700 )
2015
48
Chromosomal instability as a prognostic marker in cervical cancer. ( 25944123 )
2015
49
Recombination of chl-fus gene (Plastid Origin) downstream of hop: a locus of chromosomal instability. ( 26238241 )
2015
50
Personalised pathway analysis reveals association between DNA repair pathway dysregulation and chromosomal instability in sporadic breast cancer. ( 26456802 )
2015

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

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

75 (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 197)
# 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 rs121908941 GRCh37 Chromosome 20, 31390222: 31390222
6 DNMT3B NM_006892.3(DNMT3B): c.2177T> G (p.Val726Gly) single nucleotide variant Uncertain significance rs121908941 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

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

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

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

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

# Super pathways Score Top Affiliating Genes
1 11.66 CBX5 DNMT1 DNMT3B MECP2
2 10.89 CD40LG CD79A
3 10.6 DNMT1 DNMT3B
4
Show member pathways
10.52 DNMT1 DNMT3B MECP2
5
Show member pathways
10.27 DNMT1 MECP2

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

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

# Name GO ID Score Top Affiliating Genes
1 pericentric heterochromatin GO:0005721 8.96 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 for Immunodeficiency-Centromeric Instability-Facial Anomalies...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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