MCID: IMM133
MIFTS: 19

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3

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 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 cryptorchidism and hypospadias

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 14)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 hypospadias 32 HP:0000047
3 microcephaly 32 HP:0000252
4 hypertelorism 32 HP:0000316
5 low-set ears 32 HP:0000369
6 conductive hearing impairment 32 HP:0000405
7 strabismus 32 HP:0000486
8 global developmental delay 32 HP:0001263
9 intrauterine growth retardation 32 HP:0001511
10 hypoplastic ischia 32 HP:0003175
11 short nose 32 HP:0003196
12 decreased antibody level in blood 32 HP:0004313
13 polydactyly 32 HP:0010442
14 flat face 32 HP:0012368

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...

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...

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
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
Content
Loading form....