ICF
MCID: IMM011
MIFTS: 52

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 73 20 58 36 15 39
Icf Syndrome 12 73 20 58 54 6
Immunodeficiency Syndrome, Variable 20 70
Immune Deficiency, Variable, with Centromeric Instability of Chromosomes 1, 9, and 16 20
Centromeric Instability, Immunodeficiency Syndrome 20
Ciid 20
Icf 73

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare immunological diseases


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

GARD : 20 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.

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 respiratory papillomatosis, juvenile recurrent, congenital, and has symptoms including diarrhea An important gene associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome is DNMT3B (DNA Methyltransferase 3 Beta), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Sulfur amino acid metabolism. Affiliated tissues include b cells, bone marrow and tongue, and related phenotypes are recurrent respiratory infections and short stature

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 : 73 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 264)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency-centromeric instability-facial anomalies syndrome 2 33.9 ZBTB24 MICAL1 DNMT3B
2 respiratory papillomatosis, juvenile recurrent, congenital 30.3 CD79A CD40LG
3 chromosome 16p13.3 deletion syndrome, proximal 30.3 SMARCA2 MECP2 H2AC18
4 rett syndrome 30.1 VAMP7 MECP2 H2AC18 DNMT1
5 otopalatodigital syndrome, type i 29.8 MECP2 H2AC18
6 immunodeficiency-centromeric instability-facial anomalies syndrome 3 12.1
7 immunodeficiency-centromeric instability-facial anomalies syndrome 4 12.1
8 immunodeficiency-centromeric instability-facial anomalies syndrome 1 12.1
9 coffin-lowry syndrome 11.0
10 immune deficiency disease 10.6
11 back pain 10.4
12 stereotypic movement disorder 10.4 MECP2 HELLS
13 cerebral palsy 10.4
14 hemorrhagic fever-renal syndrome 10.4 CD79A CD40LG
15 c1q nephropathy 10.4 CD79A CD40LG
16 cryofibrinogenemia 10.4 CD79A CD40LG
17 immunoglobulin g deficiency 10.4 CD79A CD40LG
18 schizophrenia 7 10.4 SMARCA2 H2AC18
19 testicular spermatocytic seminoma 10.4 DNMT3L DNMT3B DNMT3A
20 fetal alcohol spectrum disorder 10.4 MECP2 H2AC18 DNMT1
21 combined immunodeficiency 10.4
22 ocular toxoplasmosis 10.4 CD79A CD40LG
23 spinal cord injury 10.4
24 mutagen sensitivity 10.4 DNMT3B DNMT1
25 lymphosarcoma 10.4 DNMT3A DNMT1
26 kabuki syndrome 1 10.4 ZBTB24 H2AC18 DNMT3B
27 epilepsy, familial temporal lobe, 1 10.4 SMARCA2 MICAL1 H2AC18
28 congenital syphilis 10.4 CD79A CD40LG
29 bacteriuria 10.4 H2AC18 CD79A CD40LG
30 secondary syphilis 10.4 CD79A CD40LG
31 adult syndrome 10.4 H2AC18 DNMT3B DNMT3A DNMT1
32 weaver syndrome 10.4 H2AC18 DNMT3L DNMT3A
33 immunodeficiency with hyper-igm, type 1 10.4 H2AC18 CD79A CD40LG
34 mature t-cell and nk-cell lymphoma 10.4 H2AC18 DNMT3A CD79A
35 meningoencephalitis 10.4 MECP2 CD79A CD40LG
36 agammaglobulinemia 10.4
37 hutchinson-gilford progeria syndrome 10.3 HELLS H2AC18 CBX5
38 carbohydrate metabolic disorder 10.3 SUV39H1 H2AC18 DNMT1 CBX5
39 immunoglobulin a deficiency 1 10.3 CD79A CD40LG
40 x-linked monogenic disease 10.3 MECP2 H2AC18 CD40LG
41 osteoarthritis 10.3
42 brain injury 10.3
43 sotos syndrome 1 10.3 MECP2 H2AC18 DNMT3L DNMT3B DNMT3A
44 pustulosis palmaris et plantaris 10.3 CD79A CD40LG
45 beckwith-wiedemann syndrome 10.3 H2AC18 DNMT3L DNMT3B DNMT3A DNMT1
46 rheumatoid arthritis 10.3
47 stroke, ischemic 10.3
48 traumatic brain injury 10.3
49 calciphylaxis 10.3 CD79A CD40LG
50 tetanus 10.3 VAMP7 CD79A CD40LG

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 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 abnormality of chromosome stability 58 31 hallmark (90%) Very frequent (99-80%) HP:0003220
5 decreased circulating antibody level 31 hallmark (90%) HP:0004313
6 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
7 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
8 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
9 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
10 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
11 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
12 lymphopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001888
13 cellular immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0005374
14 abnormality of neutrophils 58 31 frequent (33%) Frequent (79-30%) HP:0001874
15 communicating hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0001334
16 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
17 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
18 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
19 flat face 58 31 occasional (7.5%) Occasional (29-5%) HP:0012368
20 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
21 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
22 protruding tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010808
23 immunodeficiency 58 Very frequent (99-80%)
24 decreased antibody level in blood 58 Very frequent (99-80%)

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


diarrhea

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 CD40LG CD79A DNMT1 DNMT3A DNMT3B DNMT3L
2 mortality/aging MP:0010768 9.77 CBX5 CD40LG CD79A DNMT1 DNMT3A DNMT3B
3 reproductive system MP:0005389 9.28 CD40LG DNMT1 DNMT3A DNMT3B DNMT3L HELLS

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, Tongue

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

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

(show top 50) (show all 165)
# Title Authors PMID Year
1
Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L. 6 61 54
16543361 2006
2
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. 6 54 61
15580563 2005
3
X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis. 61 6 54
12925568 2003
4
Three novel DNMT3B mutations in Japanese patients with ICF syndrome. 61 54 6
12239717 2002
5
DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. 54 61 6
11741835 2001
6
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. 6 61 54
10588719 1999
7
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 6 61 54
10555141 1999
8
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey. 6 61
26851945 2016
9
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. 6 61
26216346 2015
10
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. 6 61
23486536 2013
11
A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. 61 6
21906047 2012
12
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. 61 6
21596365 2011
13
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). 6 61
17893117 2008
14
A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. 61 6
15952214 2005
15
Genetic variation in ICF syndrome: evidence for genetic heterogeneity. 61 6
11102980 2000
16
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 61 6
10647011 1999
17
Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome. 6
17908720 2007
18
Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases. 6
11919202 2002
19
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies. 6
1999836 1991
20
Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16. 6
3361388 1988
21
Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation? 61 54
20211012 2010
22
Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome. 61 54
18786650 2009
23
DNA methyltransferase 3B mutant in ICF syndrome interacts non-covalently with SUMO-1. 54 61
18762900 2008
24
Regulation of DNA methylation activity through Dnmt3L promoter methylation by Dnmt3 enzymes in embryonic development. 54 61
18544626 2008
25
DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function. 54 61
18029387 2008
26
Chromosome territory reorganization in a human disease with altered DNA methylation. 61 54
17923676 2007
27
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD. 61 54
17785671 2007
28
RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA. 54 61
17239456 2007
29
Subcellular distribution of HP1 proteins is altered in ICF syndrome. 54 61
15470359 2005
30
ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation. 54 61
15326630 2004
31
Chromatin targeting of de novo DNA methyltransferases by the PWWP domain. 61 54
14998998 2004
32
The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease. 61 54
14585272 2003
33
Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes. 54 61
12444103 2002
34
Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells. 61 54
12189161 2002
35
DNA hypomethylation, cancer, the immunodeficiency, centromeric region instability, facial anomalies syndrome and chromosomal rearrangements. 54 61
12163705 2002
36
The DNA methyltransferases of mammals. 54 61
11005794 2000
37
Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1. 61
33544358 2021
38
Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome. 61
32865561 2020
39
CDCA7 and HELLS suppress DNA:RNA hybrid-associated DNA damage at pericentromeric repeats. 61
33082427 2020
40
Comprehensive structure-function characterization of DNMT3B and DNMT3A reveals distinctive de novo DNA methylation mechanisms. 61
32620778 2020
41
DNMT3B deficiency presenting as severe combined immune deficiency: A case report. 61
32360517 2020
42
Clinical, Immunologic, and Molecular Spectrum of Patients with Immunodeficiency, Centromeric instability, and Facial anomalies (ICF) syndrome: a Systematic Review. 61
32533820 2020
43
A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis. 61
32061411 2020
44
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation. 61
31520839 2020
45
Does DNA Methylation Matter in FSHD? 61
32121044 2020
46
The human HELLS chromatin remodelling protein promotes end resection to facilitate homologous recombination and contributes to DSB repair within heterochromatin. 61
31802118 2020
47
Human subtelomeric DNA methylation: regulation and roles in telomere function. 61
32109830 2020
48
DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome. 61
31724723 2019
49
Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation. 61
31561277 2019
50
Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction. 61
31738163 2019

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

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

6 (show top 50) (show all 408)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNMT3B NM_006892.4(DNMT3B):c.145C>T (p.Arg49Ter) SNV Pathogenic 950309 GRCh37: 20:31369161-31369161
GRCh38: 20:32781355-32781355
2 DNMT3B NM_006892.4(DNMT3B):c.780G>A (p.Trp260Ter) SNV Pathogenic 958878 GRCh37: 20:31376785-31376785
GRCh38: 20:32788979-32788979
3 DNMT3B NM_006892.4(DNMT3B):c.2450A>G (p.Asp817Gly) SNV Pathogenic 6733 rs121908939 GRCh37: 20:31395597-31395597
GRCh38: 20:32807791-32807791
4 DNMT3B NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met) SNV Pathogenic 6734 rs121908940 GRCh37: 20:31395599-31395599
GRCh38: 20:32807793-32807793
5 DNMT3B NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser) SNV Pathogenic 6736 rs121908942 GRCh37: 20:31388722-31388722
GRCh38: 20:32800916-32800916
6 DNMT3B DNMT3B, LEU656THR Variation Pathogenic 6737 GRCh37:
GRCh38:
7 DNMT3B DNMT3B, EX21-22DEL Deletion Pathogenic 6738 GRCh37:
GRCh38:
8 DNMT3B DNMT3B, 1-BP INS, CODON 53 Insertion Pathogenic 6739 GRCh37:
GRCh38:
9 DNMT3B NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) SNV Pathogenic 6740 rs121908943 GRCh37: 20:31388006-31388006
GRCh38: 20:32800200-32800200
10 DNMT3B NM_006892.4(DNMT3B):c.2421-11G>A SNV Pathogenic 6741 rs547940069 GRCh37: 20:31395557-31395557
GRCh38: 20:32807751-32807751
11 DNMT3B NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly) SNV Pathogenic 6742 rs121908944 GRCh37: 20:31393149-31393149
GRCh38: 20:32805343-32805343
12 DNMT3B NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter) SNV Pathogenic 6743 rs121908945 GRCh37: 20:31368217-31368217
GRCh38: 20:32780411-32780411
13 DNMT3B NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) SNV Pathogenic 6744 rs121908946 GRCh37: 20:31395666-31395666
GRCh38: 20:32807860-32807860
14 DNMT3B NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro) SNV Pathogenic 6745 rs121908947 GRCh37: 20:31376813-31376813
GRCh38: 20:32789007-32789007
15 ZBTB24 NM_014797.2(ZBTB24):c.47C>G (p.Ser16Ter) SNV Pathogenic 598541 rs370370334 GRCh37: 6:109803183-109803183
GRCh38: 6:109481980-109481980
16 ZBTB24 NM_014797.2(ZBTB24):c.833C>G (p.Ser278Ter) SNV Pathogenic 31095 rs1582683374 GRCh37: 6:109802397-109802397
GRCh38: 6:109481194-109481194
17 ZBTB24 NM_014797.2(ZBTB24):c.1222T>G (p.Cys408Gly) SNV Pathogenic 31096 rs387907105 GRCh37: 6:109796668-109796668
GRCh38: 6:109475465-109475465
18 ZBTB24 NM_014797.2(ZBTB24):c.396_397del (p.His132fs) Deletion Pathogenic 40181 rs1562305058 GRCh37: 6:109802833-109802834
GRCh38: 6:109481630-109481631
19 CDCA7 NM_031942.5(CDCA7):c.1148G>A (p.Arg383His) SNV Pathogenic 225531 rs772929976 GRCh37: 2:174231123-174231123
GRCh38: 2:173366395-173366395
20 HELLS NM_018063.5(HELLS):c.2394_2396GTT[2] (p.Leu801del) Microsatellite Pathogenic 225528 rs879253737 GRCh37: 10:96356840-96356842
GRCh38: 10:94597083-94597085
21 HELLS NM_018063.5(HELLS):c.610A>T (p.Lys204Ter) SNV Pathogenic 225526 rs879253735 GRCh37: 10:96333849-96333849
GRCh38: 10:94574092-94574092
22 HELLS NM_018063.5(HELLS):c.2096A>G (p.Gln699Arg) SNV Pathogenic 225523 rs879253733 GRCh37: 10:96354459-96354459
GRCh38: 10:94594702-94594702
23 CDCA7 NM_031942.5(CDCA7):c.1057C>T (p.Arg353Cys) SNV Pathogenic 225529 rs879253738 GRCh37: 2:174231032-174231032
GRCh38: 2:173366304-173366304
24 CDCA7 NM_031942.5(CDCA7):c.1058G>A (p.Arg353His) SNV Pathogenic 225532 rs370384522 GRCh37: 2:174231033-174231033
GRCh38: 2:173366305-173366305
25 CDCA7 NM_031942.5(CDCA7):c.1118del (p.Gly373fs) Deletion Pathogenic 225530 rs876657409 GRCh37: 2:174231092-174231092
GRCh38: 2:173366364-173366364
26 HELLS NM_018063.5(HELLS):c.374_381dup (p.Lys128Ter) Duplication Pathogenic 225527 rs879253736 GRCh37: 10:96322570-96322571
GRCh38: 10:94562813-94562814
27 HELLS NM_018063.5(HELLS):c.370+2T>A SNV Pathogenic 225524 rs140316223 GRCh37: 10:96322486-96322486
GRCh38: 10:94562729-94562729
28 HELLS NM_018063.5(HELLS):c.2283_2286del (p.Ser762fs) Deletion Pathogenic 225525 rs879253734 GRCh37: 10:96356648-96356651
GRCh38: 10:94596891-94596894
29 DNMT3B NM_006892.4(DNMT3B):c.2177T>G (p.Val726Gly) SNV Pathogenic 6735 rs121908941 GRCh37: 20:31390222-31390222
GRCh38: 20:32802416-32802416
30 ZBTB24 NM_014797.2(ZBTB24):c.1192C>T (p.Arg398Ter) SNV Pathogenic 650017 rs867580676 GRCh37: 6:109797390-109797390
GRCh38: 6:109476187-109476187
31 DNMT3B NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) SNV Pathogenic 803606 rs201579632 GRCh37: 20:31395623-31395623
GRCh38: 20:32807817-32807817
32 ZBTB24 NM_014797.3(ZBTB24):c.888dup (p.Lys297Ter) Duplication Pathogenic 951999 GRCh37: 6:109802341-109802342
GRCh38: 6:109481138-109481139
33 ZBTB24 NM_014797.2(ZBTB24):c.958C>T (p.Arg320Ter) SNV Pathogenic 31093 rs387907104 GRCh37: 6:109798128-109798128
GRCh38: 6:109476925-109476925
34 DNMT3B NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser) SNV Likely pathogenic 461482 rs759448571 GRCh37: 20:31393204-31393204
GRCh38: 20:32805398-32805398
35 ZBTB24 NM_014797.2(ZBTB24):c.1369C>T (p.Arg457Ter) SNV Likely pathogenic 31097 rs387907106 GRCh37: 6:109788857-109788857
GRCh38: 6:109467654-109467654
36 DNMT3B NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs) Deletion Likely pathogenic 657788 rs1368779496 GRCh37: 20:31394061-31394062
GRCh38: 20:32806255-32806256
37 DNMT3B NM_006892.4(DNMT3B):c.1838T>C (p.Val613Ala) SNV Likely pathogenic 952837 GRCh37: 20:31388037-31388037
GRCh38: 20:32800231-32800231
38 DNMT3B NM_006892.4(DNMT3B):c.583A>C (p.Ser195Arg) SNV Uncertain significance 958456 GRCh37: 20:31375186-31375186
GRCh38: 20:32787380-32787380
39 DNMT3B NM_006892.4(DNMT3B):c.565G>A (p.Ala189Thr) SNV Uncertain significance 461483 rs147591633 GRCh37: 20:31375168-31375168
GRCh38: 20:32787362-32787362
40 DNMT3B NM_006892.4(DNMT3B):c.2236G>A (p.Val746Met) SNV Uncertain significance 962346 GRCh37: 20:31393148-31393148
GRCh38: 20:32805342-32805342
41 DNMT3B NM_006892.4(DNMT3B):c.289C>G (p.Arg97Gly) SNV Uncertain significance 965493 GRCh37: 20:31372648-31372648
GRCh38: 20:32784842-32784842
42 DNMT3B NM_006892.4(DNMT3B):c.365G>A (p.Arg122His) SNV Uncertain significance 967758 GRCh37: 20:31374366-31374366
GRCh38: 20:32786560-32786560
43 DNMT3B NM_006892.4(DNMT3B):c.364C>T (p.Arg122Cys) SNV Uncertain significance 971034 GRCh37: 20:31374365-31374365
GRCh38: 20:32786559-32786559
44 overlap with 7 genes NC_000020.10:g.(?_30795725)_(31395729_?)dup Duplication Uncertain significance 832109 GRCh37: 20:30795725-31395729
GRCh38:
45 DNMT3B NM_006892.4(DNMT3B):c.1615C>T (p.Arg539Trp) SNV Uncertain significance 834668 GRCh37: 20:31386390-31386390
GRCh38: 20:32798584-32798584
46 DNMT3B NM_006892.4(DNMT3B):c.1868A>G (p.Lys623Arg) SNV Uncertain significance 845008 GRCh37: 20:31388067-31388067
GRCh38: 20:32800261-32800261
47 DNMT3B NM_006892.4(DNMT3B):c.154A>C (p.Ser52Arg) SNV Uncertain significance 849012 GRCh37: 20:31369170-31369170
GRCh38: 20:32781364-32781364
48 DNMT3B NM_006892.4(DNMT3B):c.955A>T (p.Ser319Cys) SNV Uncertain significance 850034 GRCh37: 20:31380465-31380465
GRCh38: 20:32792659-32792659
49 DNMT3B NM_006892.4(DNMT3B):c.101C>T (p.Ser34Leu) SNV Uncertain significance 858241 GRCh37: 20:31368230-31368230
GRCh38: 20:32780424-32780424
50 DNMT3B NM_006892.4(DNMT3B):c.445C>T (p.Arg149Trp) SNV Uncertain significance 861561 GRCh37: 20:31375048-31375048
GRCh38: 20:32787242-32787242

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
Show member pathways
13.51 UHRF1 SUV39H1 SMARCA2 H2AC18 DNMT3L DNMT3B
2
Show member pathways
11.71 DNMT3B DNMT3A DNMT1
3
Show member pathways
11.71 DNMT3L DNMT3B DNMT3A DNMT1
4 11.68 UHRF1 SUV39H1 SMARCA2 MECP2 HELLS DNMT3B
5 11.44 SUV39H1 SMARCA2 DNMT1
6
Show member pathways
10.97 MECP2 DNMT3B DNMT3A DNMT1
7 10.67 DNMT3B DNMT3A DNMT1
8
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 chromosome, centromeric region GO:0000775 9.46 SUV39H1 HELLS DNMT3A CBX5
2 pericentric heterochromatin GO:0005721 9.13 HELLS DNMT1 CBX5
3 heterochromatin GO:0000792 9.1 UHRF1 SUV39H1 MECP2 DNMT3A DNMT1 CBX5

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.92 UHRF1 SUV39H1 SMARCA2 MECP2 DNMT3B DNMT3A
2 chromatin organization GO:0006325 9.88 UHRF1 SUV39H1 DNMT3A DNMT1
3 negative regulation of transcription, DNA-templated GO:0045892 9.88 SUV39H1 SMARCA2 MECP2 DNMT3L DNMT1 CBX5
4 methylation GO:0032259 9.85 SUV39H1 DNMT3B DNMT3A DNMT1
5 regulation of gene expression GO:0010468 9.85 MECP2 DNMT3L DNMT3B DNMT3A DNMT1
6 negative regulation of gene expression, epigenetic GO:0045814 9.71 DNMT3B DNMT3A DNMT1
7 chromatin silencing GO:0006342 9.67 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 regulation of gene expression by genetic imprinting GO:0006349 9.54 MECP2 DNMT3L DNMT3A
12 negative regulation of histone H3-K9 methylation GO:0051573 9.52 DNMT3B DNMT1
13 methylation-dependent chromatin silencing GO:0006346 9.51 HELLS DNMT3A
14 DNA methylation involved in embryo development GO:0043045 9.48 DNMT3A DNMT1
15 positive regulation of DNA methylation GO:1905643 9.43 MECP2 DNMT3L
16 maintenance of DNA methylation GO:0010216 9.43 UHRF1 HELLS DNMT1
17 C-5 methylation of cytosine GO:0090116 9.33 DNMT3B DNMT3A DNMT1
18 DNA methylation on cytosine GO:0032776 9.13 DNMT3L DNMT3A DNMT1
19 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 methyltransferase activity GO:0008168 9.62 SUV39H1 DNMT3B DNMT3A DNMT1
2 methyl-CpG binding GO:0008327 9.43 UHRF1 MECP2 DNMT1
3 DNA-methyltransferase activity GO:0009008 9.33 DNMT3B DNMT3A DNMT1
4 chromatin binding GO:0003682 9.23 SUV39H1 SMARCA2 MECP2 HELLS DNMT3B DNMT3A
5 DNA (cytosine-5-)-methyltransferase activity GO:0003886 9.13 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....