ICF3
MCID: IMM133
MIFTS: 22

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 75 29 6
Icf3 57 75
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 3 40
Icf Syndrome 3 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
immunodeficiency-centromeric instability-facial anomalies syndrome 3:
Inheritance autosomal recessive inheritance


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)

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 hypertelorism and low-set ears

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 : 75 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 intellectual disability 32 very rare (1%) HP:0001249
4 global developmental delay 32 HP:0001263
5 short nose 32 HP:0003196
6 microcephaly 32 HP:0000252
7 strabismus 32 HP:0000486
8 epicanthus 32 HP:0000286
9 cryptorchidism 32 HP:0000028
10 flat face 32 HP:0012368
11 intrauterine growth retardation 32 HP:0001511
12 decreased antibody level in blood 32 HP:0004313
13 hypospadias 32 HP:0000047
14 conductive hearing impairment 32 HP:0000405
15 recurrent infections 32 HP:0002719
16 agammaglobulinemia 32 HP:0004432
17 hypoplastic ischia 32 HP:0003175
18 polydactyly 32 HP:0010442

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:

41
B Cells

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

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

# Title Authors Year
1
Photoelectron spectroscopic study of I-·ICF3: a frontside attack SN2 pre-reaction complex. ( 30534728 )
2018
2
Molecular geometries of H2S···ICF3 and H2O···ICF3 characterised by broadband rotational spectroscopy. ( 22025059 )
2011

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

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

75
# Symbol AA change Variation ID SNP ID
1 CDCA7 p.Arg274Cys VAR_076578 rs879253738
2 CDCA7 p.Arg274His VAR_076579 rs370384522

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDCA7 NM_031942.4(CDCA7): c.1057C> T (p.Arg353Cys) single nucleotide variant Pathogenic rs879253738 GRCh37 Chromosome 2, 174231032: 174231032
2 CDCA7 NM_031942.4(CDCA7): c.1057C> T (p.Arg353Cys) single nucleotide variant Pathogenic rs879253738 GRCh38 Chromosome 2, 173366304: 173366304
3 CDCA7 NM_031942.4(CDCA7): c.1118delG (p.Gly373Alafs) deletion Pathogenic rs876657409 GRCh37 Chromosome 2, 174231093: 174231093
4 CDCA7 NM_031942.4(CDCA7): c.1118delG (p.Gly373Alafs) deletion Pathogenic rs876657409 GRCh38 Chromosome 2, 173366365: 173366365
5 CDCA7 NM_031942.4(CDCA7): c.1148G> A (p.Arg383His) single nucleotide variant Pathogenic rs772929976 GRCh38 Chromosome 2, 173366395: 173366395
6 CDCA7 NM_031942.4(CDCA7): c.1148G> A (p.Arg383His) single nucleotide variant Pathogenic rs772929976 GRCh37 Chromosome 2, 174231123: 174231123
7 CDCA7 NM_031942.4(CDCA7): c.1058G> A (p.Arg353His) single nucleotide variant Pathogenic rs370384522 GRCh37 Chromosome 2, 174231033: 174231033
8 CDCA7 NM_031942.4(CDCA7): c.1058G> A (p.Arg353His) single nucleotide variant Pathogenic rs370384522 GRCh38 Chromosome 2, 173366305: 173366305

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
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17 ExPASy
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28 GO
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74 UMLS via Orphanet
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