ICF3
MCID: IMM133
MIFTS: 24

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 (ICF3)

Categories: Genetic diseases, Immune diseases

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

MalaCards integrated aliases for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3:

Name: Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 57 12 72 29 6
Icf3 57 72
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 3 39
Icf Syndrome 3 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

31
immunodeficiency-centromeric instability-facial anomalies syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



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

OMIM® : 57 Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015). For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860). (616910) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3, is also known as icf3. An important gene associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 is CDCA7 (Cell Division Cycle Associated 7). Affiliated tissues include b cells, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has material basis in homozygous mutation in the CDCA7 gene on chromosome 2q31.

UniProtKB/Swiss-Prot : 72 Immunodeficiency-centromeric instability-facial anomalies syndrome 3: 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...

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

Human phenotypes related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 global developmental delay 31 HP:0001263
3 depressed nasal bridge 31 HP:0005280
4 hypertelorism 31 HP:0000316
5 short nose 31 HP:0003196
6 microcephaly 31 HP:0000252
7 strabismus 31 HP:0000486
8 flat face 31 HP:0012368
9 cryptorchidism 31 HP:0000028
10 intrauterine growth retardation 31 HP:0001511
11 low-set ears 31 HP:0000369
12 epicanthus 31 HP:0000286
13 conductive hearing impairment 31 HP:0000405
14 hypospadias 31 HP:0000047
15 agammaglobulinemia 31 HP:0004432
16 recurrent infections 31 HP:0002719
17 hypoplastic ischia 31 HP:0003175
18 polydactyly 31 HP:0010442
19 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
hypertelorism
epicanthal folds

Head And Neck Nose:
flat nasal bridge

Laboratory Abnormalities:
hypomethylation of alpha-satellite repeats on chromosome 9
hypomethylation of satellite repeats on chromosome 1, 9, and 16 cytogenetic abnormalities

Immunology:
recurrent infections
normal b cells
hypo- or agammaglobulinemia

Neurologic Central Nervous System:
intellectual disability (in some patients)
delayed psychomotor development (in some patients)

Abdomen Gastrointestinal:
gastrointestinal problems

Clinical features from OMIM®:

616910 (Updated 20-May-2021)

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

Search Clinical Trials , NIH Clinical Center for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3

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

Genetic tests related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3:

# Genetic test Affiliating Genes
1 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 29 CDCA7

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

MalaCards organs/tissues related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3:

40
B Cells

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

Articles related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3:

(show all 16)
# Title Authors PMID Year
1
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. 57 6
26216346 2015
2
A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. 57 6
15952214 2005
3
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies. 6 57
1999836 1991
4
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. 6
21596365 2011
5
Marker Assisted Gene Pyramiding (MAGP) for bacterial blight and blast resistance into mega rice variety "Tellahamsa". 61
32559183 2020
6
The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome. 61
31476899 2019
7
Photoelectron spectroscopic study of I-·ICF3: a frontside attack SN2 pre-reaction complex. 61
30534728 2019
8
CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome. 61
30307408 2019
9
Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome. 61
30010917 2018
10
Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state. 61
29659838 2018
11
Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2. 61
28128455 2017
12
H3PAgI: generation by laser-ablation and characterization by rotational spectroscopy and ab initio calculations. 61
27354204 2016
13
Halogen bonding in the gas phase: a comparison of the iodine bond in B⋯ICl and B⋯ICF3 for simple Lewis Bases B. 61
25467533 2015
14
Theoretical description of halogen bonding - an insight based on the natural orbitals for chemical valence combined with the extended-transition-state method (ETS-NOCV). 61
22669533 2013
15
Rotational spectra and properties of complexes B···ICF3 (B = Kr or CO) and a comparison of the efficacy of ICl and ICF3 as iodine donors in halogen bond formation. 61
22168696 2011
16
Molecular geometries of H2S···ICF3 and H2O···ICF3 characterised by broadband rotational spectroscopy. 61
22025059 2011

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

ClinVar genetic disease variations for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDCA7 NM_031942.5(CDCA7):c.1148G>A (p.Arg383His) SNV Pathogenic 225531 rs772929976 GRCh37: 2:174231123-174231123
GRCh38: 2:173366395-173366395
2 CDCA7 NM_031942.5(CDCA7):c.1057C>T (p.Arg353Cys) SNV Pathogenic 225529 rs879253738 GRCh37: 2:174231032-174231032
GRCh38: 2:173366304-173366304
3 CDCA7 NM_031942.5(CDCA7):c.1058G>A (p.Arg353His) SNV Pathogenic 225532 rs370384522 GRCh37: 2:174231033-174231033
GRCh38: 2:173366305-173366305
4 CDCA7 NM_031942.5(CDCA7):c.1118del (p.Gly373fs) Deletion Pathogenic 225530 rs876657409 GRCh37: 2:174231092-174231092
GRCh38: 2:173366364-173366364
5 CDCA7 NM_031942.5(CDCA7):c.503C>G (p.Ala168Gly) SNV Uncertain significance 1028419 GRCh37: 2:174228072-174228072
GRCh38: 2:173363344-173363344

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 CDCA7 p.Arg274Cys VAR_076578 rs879253738
2 CDCA7 p.Arg274His VAR_076579 rs370384522

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

Search GEO for disease gene expression data for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3.

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

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

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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