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MCID: IMM072
MIFTS: 39

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1

Categories: Genetic diseases, Immune diseases
Genes Variations Tissues Related diseases Publications 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 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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33


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

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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 chromosomal instability with tissue-specific radiosensitivity and radiation sensitivity/chromosome instability syndrome, autosomal dominant, and has symptoms including diarrhea An important gene associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 is DNMT3B (DNA Methyltransferase 3 Beta). Affiliated tissues include t cells, tongue and lung, and related phenotypes are macroglossia and sinusitis

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.

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.

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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 all 17)
# Related Disease Score Top Affiliating Genes
1 chromosomal instability with tissue-specific radiosensitivity 12.0
2 radiation sensitivity/chromosome instability syndrome, autosomal dominant 12.0
3 nijmegen breakage syndrome 11.9
4 bloom syndrome 11.7
5 nijmegen breakage syndrome-like disorder 11.7
6 immunodeficiency-centromeric instability-facial anomalies syndrome 11.6
7 colorectal cancer 11.3
8 fanconi anemia, complementation group a 11.1
9 immunodeficiency, common variable, 10 11.0
10 fanconi anemia, complementation group p 11.0
11 immunodeficiency-centromeric instability-facial anomalies syndrome 2 10.9
12 immunodeficiency-centromeric instability-facial anomalies syndrome 3 10.9
13 immunodeficiency-centromeric instability-facial anomalies syndrome 4 10.9
14 fanconi anemia, complementation group c 10.7
15 fanconi anemia, complementation group d2 10.7
16 fanconi anemia, complementation group b 10.7
17 fanconi anemia, complementation group e 10.7

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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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 23)
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 HP:0000158
2 sinusitis 32 HP:0000246
3 malar flattening 32 HP:0000272
4 epicanthus 32 HP:0000286
5 hypertelorism 32 HP:0000316
6 micrognathia 32 HP:0000347
7 low-set ears 32 HP:0000369
8 anteverted nares 32 HP:0000463
9 intellectual disability 32 HP:0001249
10 failure to thrive 32 HP:0001508
11 diarrhea 32 HP:0002014
12 malabsorption 32 HP:0002024
13 pneumonia 32 HP:0002090
14 bronchiectasis 32 HP:0002110
15 immunodeficiency 32 HP:0002721
16 short nose 32 HP:0003196
17 decreased antibody level in blood 32 HP:0004313
18 short stature 32 HP:0004322
19 chronic bronchitis 32 HP:0004469
20 depressed nasal bridge 32 HP:0005280
21 decrease in t cell count 32 HP:0005403
22 protruding tongue 32 HP:0010808
23 flat face 32 HP:0012368

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


diarrhea
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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 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

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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:

41
T Cells, Tongue, Lung, Colon, Prostate, Skin, Liver
Sources

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 362)
# 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
PRL-3 promotes telomere deprotection and chromosomal instability. ( 28482095 )
2017
4
MIIP haploinsufficiency induces chromosomal instability and promotes tumour progression in colorectal cancer. ( 27741356 )
2017
5
FBW7 Loss Promotes Chromosomal Instability and Tumorigenesis via Cyclin E1/CDK2-Mediated Phosphorylation of CENP-A. ( 28760857 )
2017
6
Clinical Significance of DNA Damage Response Factors and Chromosomal Instability in Primary Lung Adenocarcinoma. ( 28373435 )
2017
7
Epigenetic silencing of miR-137 induces drug resistance and chromosomal instability by targeting AURKA in multiple myeloma. ( 27857131 )
2017
8
Sustained expression of miR-26a promotes chromosomal instability and tumorigenesis through regulation of CHFR. ( 28126920 )
2017
9
Telomere shortening, TP53 mutations and deletions in chronic lymphocytic leukemia result in increased chromosomal instability and breakpoint clustering in heterochromatic regions. ( 28691153 )
2017
10
New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family. ( 28863940 )
2017
11
The temporal dynamics of chromosome instability in ovarian cancer cell lines and primary patient samples. ( 28376088 )
2017
12
Genetic and pharmacological inhibition of TTK impairs pancreatic cancer cell line growth by inducing lethal chromosomal instability. ( 28380042 )
2017
13
Mislocalization of centromeric histone H3 variant CENP-A contributes to chromosomal instability (CIN) in human cells. ( 28596481 )
2017
14
Induction of Chromosome Instability by Activation of Yes-Associated Protein and Forkhead Box M1 in Liver Cancer. ( 28249813 )
2017
15
Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients. ( 27545893 )
2016
16
Chromosomal instability in mammalian pre-implantation embryos: potential causes, detection methods, and clinical consequences. ( 26590822 )
2016
17
Effect of EGFR and p-AKT Overexpression on Chromosomal Instability in Gastric Cancer. ( 26847684 )
2016
18
Reduced cohesin destabilizes high-level gene amplification by disrupting pre-replication complex bindings in human cancers with chromosomal instability. ( 26420833 )
2016
19
Establishing a murine xenograft-model for long-term analysis of factors inducing chromosomal instability in myelodysplastic syndrome: Pitfalls and successes. ( 27184732 )
2016
20
In vivo overexpression of Emi1 promotes chromosome instability and tumorigenesis. ( 27065322 )
2016
21
The putative oncogene CEP72 inhibits the mitotic function of BRCA1 and induces chromosomal instability. ( 26300001 )
2016
22
Loss of Ewing sarcoma EWS allele promotes tumorigenesis by inducing chromosomal instability in zebrafish. ( 27557633 )
2016
23
MYC copy gain, chromosomal instability and PI3K activation as potential markers of unfavourable outcome in trastuzumab-treated patients with metastatic breast cancer. ( 27184134 )
2016
24
Dynamic Bcl-xL (S49) and (S62) Phosphorylation/Dephosphorylation during Mitosis Prevents Chromosome Instability and Aneuploidy in Normal Human Diploid Fibroblasts. ( 27398719 )
2016
25
Genomewide copy number analysis of MA1llerian adenosarcoma identified chromosomal instability in the aggressive subgroup. ( 27255164 )
2016
26
CNS germinomas are characterized by global demethylation, chromosomal instability and mutational activation of the Kit-, Ras/Raf/Erk- and Akt-pathways. ( 27391150 )
2016
27
Telomerase reverse transcriptase expression protects transformed human cells against DNA-damaging agents, and increases tolerance to chromosomal instability. ( 25893297 )
2016
28
Hepatitis B virus PreS2-mutant large surface antigen activates store-operated calcium entry and promotes chromosome instability. ( 26992221 )
2016
29
DNA damage response curtails detrimental replication stress and chromosomal instability induced by the dietary carcinogen PhIP. ( 27599846 )
2016
30
Overexpression screens identify conserved dosage chromosome instability genes in yeast and human cancer. ( 27551064 )
2016
31
The inner centromere-shugoshin network prevents chromosomal instability. ( 26359403 )
2015
32
High level of chromosomal instability in circulating tumor cells of ROS1-rearranged non-small-cell lung cancer. ( 25846554 )
2015
33
Mitochondrial ribosomal protein S18-2 evokes chromosomal instability and transforms primary rat skin fibroblasts. ( 26023799 )
2015
34
Stabilization of MCRS1 by BAP1 prevents chromosome instability in renal cell carcinoma. ( 26300492 )
2015
35
Deregulation of Rb-E2F1 axis causes chromosomal instability by engaging the transactivation function of Cdc20-anaphase-promoting complex/cyclosome. ( 25368385 )
2015
36
Telomere Dysfunction, Chromosomal Instability and Cancer. ( 26376872 )
2015
37
Proteins of the mitotic checkpoint and spindle are related to chromosomal instability and unfavourable prognosis in patients with myelodysplastic syndrome. ( 25637637 )
2015
38
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. ( 25437880 )
2015
39
Nuclear accumulation of annexin A2 contributes to chromosomal instability by coilin-mediated centromere damage. ( 25347736 )
2015
40
Kinase-independent role of cyclin D1 in chromosomal instability and mammary tumorigenesis. ( 25940700 )
2015
41
Chromosomal instability as a prognostic marker in cervical cancer. ( 25944123 )
2015
42
Recombination of chl-fus gene (Plastid Origin) downstream of hop: a locus of chromosomal instability. ( 26238241 )
2015
43
Personalised pathway analysis reveals association between DNA repair pathway dysregulation and chromosomal instability in sporadic breast cancer. ( 26456802 )
2015
44
Topoisomerase III+ in chromosome instability and personalized cancer therapy. ( 25328138 )
2015
45
HIPK2 deficiency causes chromosomal instability by cytokinesis failure and increases tumorigenicity. ( 25868975 )
2015
46
Ataxia telangiectasia derived iPS cells show preserved x-ray sensitivity and decreased chromosomal instability. ( 24970375 )
2014
47
miR-214-mediated downregulation of RNF8 induces chromosomal instability in ovarian cancer cells. ( 25483088 )
2014
48
Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A. ( 23755103 )
2014
49
Mutually exclusive mutations of KIT and RAS are associated with KIT mRNA expression and chromosomal instability in primary intracranial pure germinomas. ( 24452629 )
2014
50
Whole chromosome instability resulting from the synergistic effects of pRB and p53 inactivation. ( 23792446 )
2014
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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:

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
10 DNMT3B p.His814Arg VAR_011510
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 177)
# 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.1987G> A (p.Gly663Ser) single nucleotide variant Pathogenic rs121908942 GRCh37 Chromosome 20, 31388722: 31388722
6 DNMT3B NM_006892.3(DNMT3B): c.1987G> A (p.Gly663Ser) single nucleotide variant Pathogenic rs121908942 GRCh38 Chromosome 20, 32800916: 32800916
7 DNMT3B DNMT3B, LEU656THR undetermined variant Pathogenic
8 DNMT3B DNMT3B, EX21-22DEL deletion Pathogenic
9 DNMT3B DNMT3B, 1-BP INS, CODON 53 insertion Pathogenic
10 DNMT3B NM_006892.3(DNMT3B): c.1807G> A (p.Ala603Thr) single nucleotide variant Pathogenic rs121908943 GRCh37 Chromosome 20, 31388006: 31388006
11 DNMT3B NM_006892.3(DNMT3B): c.1807G> A (p.Ala603Thr) single nucleotide variant Pathogenic rs121908943 GRCh38 Chromosome 20, 32800200: 32800200
12 DNMT3B NM_175850.2(DNMT3B): c.2397-11G> A single nucleotide variant Pathogenic rs547940069 GRCh37 Chromosome 20, 31395557: 31395557
13 DNMT3B NM_175850.2(DNMT3B): c.2397-11G> A single nucleotide variant Pathogenic rs547940069 GRCh38 Chromosome 20, 32807751: 32807751
14 DNMT3B NM_006892.3(DNMT3B): c.2237T> G (p.Val746Gly) single nucleotide variant Pathogenic rs121908944 GRCh37 Chromosome 20, 31393149: 31393149
15 DNMT3B NM_006892.3(DNMT3B): c.2237T> G (p.Val746Gly) single nucleotide variant Pathogenic rs121908944 GRCh38 Chromosome 20, 32805343: 32805343
16 DNMT3B NM_006892.3(DNMT3B): c.88C> T (p.Gln30Ter) single nucleotide variant Pathogenic rs121908945 GRCh37 Chromosome 20, 31368217: 31368217
17 DNMT3B NM_006892.3(DNMT3B): c.88C> T (p.Gln30Ter) single nucleotide variant Pathogenic rs121908945 GRCh38 Chromosome 20, 32780411: 32780411
18 DNMT3B NM_006892.3(DNMT3B): c.2519G> A (p.Arg840Gln) single nucleotide variant Pathogenic rs121908946 GRCh37 Chromosome 20, 31395666: 31395666
19 DNMT3B NM_006892.3(DNMT3B): c.2519G> A (p.Arg840Gln) single nucleotide variant Pathogenic rs121908946 GRCh38 Chromosome 20, 32807860: 32807860
20 DNMT3B NM_006892.3(DNMT3B): c.808T> C (p.Ser270Pro) single nucleotide variant Pathogenic rs121908947 GRCh37 Chromosome 20, 31376813: 31376813
21 DNMT3B NM_006892.3(DNMT3B): c.808T> C (p.Ser270Pro) single nucleotide variant Pathogenic rs121908947 GRCh38 Chromosome 20, 32789007: 32789007
22 DNMT3B NM_006892.3(DNMT3B): c.-224C> A single nucleotide variant Uncertain significance rs886056611 GRCh37 Chromosome 20, 31350288: 31350288
23 DNMT3B NM_006892.3(DNMT3B): c.-224C> A single nucleotide variant Uncertain significance rs886056611 GRCh38 Chromosome 20, 32762482: 32762482
24 DNMT3B NM_006892.3(DNMT3B): c.341G> A (p.Arg114Gln) single nucleotide variant Uncertain significance rs546278202 GRCh38 Chromosome 20, 32786536: 32786536
25 DNMT3B NM_006892.3(DNMT3B): c.341G> A (p.Arg114Gln) single nucleotide variant Uncertain significance rs546278202 GRCh37 Chromosome 20, 31374342: 31374342
26 DNMT3B NM_006892.3(DNMT3B): c.1084G> T (p.Val362Leu) single nucleotide variant Uncertain significance rs886056614 GRCh38 Chromosome 20, 32793553: 32793553
27 DNMT3B NM_006892.3(DNMT3B): c.1084G> T (p.Val362Leu) single nucleotide variant Uncertain significance rs886056614 GRCh37 Chromosome 20, 31381359: 31381359
28 DNMT3B NM_006892.3(DNMT3B): c.1211A> G (p.Tyr404Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs143462810 GRCh38 Chromosome 20, 32795493: 32795493
29 DNMT3B NM_006892.3(DNMT3B): c.1211A> G (p.Tyr404Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs143462810 GRCh37 Chromosome 20, 31383299: 31383299
30 DNMT3B NM_006892.3(DNMT3B): c.1219G> A (p.Gly407Ser) single nucleotide variant Uncertain significance rs148646143 GRCh38 Chromosome 20, 32795501: 32795501
31 DNMT3B NM_006892.3(DNMT3B): c.1219G> A (p.Gly407Ser) single nucleotide variant Uncertain significance rs148646143 GRCh37 Chromosome 20, 31383307: 31383307
32 DNMT3B NM_006892.3(DNMT3B): c.1413C> T (p.Asp471=) single nucleotide variant Benign/Likely benign rs6119965 GRCh38 Chromosome 20, 32797222: 32797222
33 DNMT3B NM_006892.3(DNMT3B): c.1413C> T (p.Asp471=) single nucleotide variant Benign/Likely benign rs6119965 GRCh37 Chromosome 20, 31385028: 31385028
34 DNMT3B NM_006892.3(DNMT3B): c.1557G> A (p.Gln519=) single nucleotide variant Conflicting interpretations of pathogenicity rs150314851 GRCh38 Chromosome 20, 32798526: 32798526
35 DNMT3B NM_006892.3(DNMT3B): c.1557G> A (p.Gln519=) single nucleotide variant Conflicting interpretations of pathogenicity rs150314851 GRCh37 Chromosome 20, 31386332: 31386332
36 DNMT3B NM_006892.3(DNMT3B): c.1674T> C (p.Tyr558=) single nucleotide variant Benign rs2424922 GRCh38 Chromosome 20, 32798643: 32798643
37 DNMT3B NM_006892.3(DNMT3B): c.1674T> C (p.Tyr558=) single nucleotide variant Benign rs2424922 GRCh37 Chromosome 20, 31386449: 31386449
38 DNMT3B NM_006892.3(DNMT3B): c.1760-5C> G single nucleotide variant Benign rs1997797 GRCh37 Chromosome 20, 31387954: 31387954
39 DNMT3B NM_006892.3(DNMT3B): c.1760-5C> G single nucleotide variant Benign rs1997797 GRCh38 Chromosome 20, 32800148: 32800148
40 DNMT3B NM_006892.3(DNMT3B): c.1860G> C (p.Gly620=) single nucleotide variant Uncertain significance rs886056616 GRCh38 Chromosome 20, 32800253: 32800253
41 DNMT3B NM_006892.3(DNMT3B): c.1860G> C (p.Gly620=) single nucleotide variant Uncertain significance rs886056616 GRCh37 Chromosome 20, 31388059: 31388059
42 DNMT3B NM_006892.3(DNMT3B): c.1878C> T (p.Asn626=) single nucleotide variant Benign/Likely benign rs17123655 GRCh37 Chromosome 20, 31388077: 31388077
43 DNMT3B NM_006892.3(DNMT3B): c.1878C> T (p.Asn626=) single nucleotide variant Benign/Likely benign rs17123655 GRCh38 Chromosome 20, 32800271: 32800271
44 DNMT3B NM_006892.3(DNMT3B): c.1996+7A> G single nucleotide variant Uncertain significance rs556202476 GRCh37 Chromosome 20, 31388738: 31388738
45 DNMT3B NM_006892.3(DNMT3B): c.1996+7A> G single nucleotide variant Uncertain significance rs556202476 GRCh38 Chromosome 20, 32800932: 32800932
46 DNMT3B NM_006892.3(DNMT3B): c.2311G> A (p.Val771Ile) single nucleotide variant Uncertain significance rs886056617 GRCh37 Chromosome 20, 31394024: 31394024
47 DNMT3B NM_006892.3(DNMT3B): c.2311G> A (p.Val771Ile) single nucleotide variant Uncertain significance rs886056617 GRCh38 Chromosome 20, 32806218: 32806218
48 DNMT3B NM_006892.3(DNMT3B): c.*754G> A single nucleotide variant Uncertain significance rs886056624 GRCh38 Chromosome 20, 32808657: 32808657
49 DNMT3B NM_006892.3(DNMT3B): c.*754G> A single nucleotide variant Uncertain significance rs886056624 GRCh37 Chromosome 20, 31396463: 31396463
50 DNMT3B NM_006892.3(DNMT3B): c.*1076C> T single nucleotide variant Uncertain significance rs779656204 GRCh38 Chromosome 20, 32808979: 32808979
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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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GO Terms for Immunodeficiency-Centromeric Instability-Facial Anomalies...

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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