ICF4
MCID: IMM147
MIFTS: 23

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 (ICF4)

Categories: Genetic diseases, Immune diseases

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

MalaCards integrated aliases for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4:

Name: Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 57 12 72 29 6
Icf4 57 72
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 4 39
Icf Syndrome 4 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth


HPO:

31
immunodeficiency-centromeric instability-facial anomalies syndrome 4:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0090011
OMIM® 57 616911
OMIM Phenotypic Series 57 PS242860
ICD10 32 D84.8

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

OMIM® : 57 Immunodeficiency-centromeric instability-facial anomalies syndrome-4 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). (616911) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4, is also known as icf4. An important gene associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 is HELLS (Helicase, Lymphoid Specific). Affiliated tissues include b cells, and related phenotypes are global developmental delay and intellectual disability

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 or compound heterozygous mutation in the HELLS gene on chromosome 10q23.

UniProtKB/Swiss-Prot : 72 Immunodeficiency-centromeric instability-facial anomalies syndrome 4: 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 4:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 intellectual disability 31 very rare (1%) HP:0001249
3 motor delay 31 very rare (1%) HP:0001270
4 depressed nasal bridge 31 HP:0005280
5 hypertelorism 31 HP:0000316
6 epicanthus 31 HP:0000286
7 agammaglobulinemia 31 HP:0004432
8 recurrent infections 31 HP:0002719
9 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)

Clinical features from OMIM®:

616911 (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 4

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

Genetic tests related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4:

# Genetic test Affiliating Genes
1 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 29 HELLS

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

MalaCards organs/tissues related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4:

40
B Cells

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

Articles related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4:

# Title Authors PMID Year
1
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. 6 57
26216346 2015
2
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. 6
21596365 2011
3
LSH mediates gene repression through macroH2A deposition. 61
33159050 2020
4
A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis. 61
32061411 2020
5
The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome. 61
31476899 2019
6
Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome. 61
30010917 2018
7
Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state. 61
29659838 2018
8
Marker-assisted pyramiding of two major, broad-spectrum bacterial blight resistance genes, Xa21 and Xa33 into an elite maintainer line of rice, DRR17B. 61
30359375 2018
9
Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2. 61
28128455 2017

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

ClinVar genetic disease variations for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HELLS NM_018063.5(HELLS):c.2394_2396GTT[2] (p.Leu801del) Microsatellite Pathogenic 225528 rs879253737 GRCh37: 10:96356840-96356842
GRCh38: 10:94597083-94597085
2 HELLS NM_018063.5(HELLS):c.610A>T (p.Lys204Ter) SNV Pathogenic 225526 rs879253735 GRCh37: 10:96333849-96333849
GRCh38: 10:94574092-94574092
3 HELLS NM_018063.5(HELLS):c.2096A>G (p.Gln699Arg) SNV Pathogenic 225523 rs879253733 GRCh37: 10:96354459-96354459
GRCh38: 10:94594702-94594702
4 HELLS NM_018063.5(HELLS):c.374_381dup (p.Lys128Ter) Duplication Pathogenic 225527 rs879253736 GRCh37: 10:96322570-96322571
GRCh38: 10:94562813-94562814
5 HELLS NM_018063.5(HELLS):c.370+2T>A SNV Pathogenic 225524 rs140316223 GRCh37: 10:96322486-96322486
GRCh38: 10:94562729-94562729
6 HELLS NM_018063.5(HELLS):c.2283_2286del (p.Ser762fs) Deletion Pathogenic 225525 rs879253734 GRCh37: 10:96356648-96356651
GRCh38: 10:94596891-94596894
7 HELLS NM_018063.5(HELLS):c.1258C>G (p.Leu420Val) SNV Uncertain significance 811038 rs146569050 GRCh37: 10:96342748-96342748
GRCh38: 10:94582991-94582991
8 HELLS NM_018063.5(HELLS):c.2077G>T (p.Asp693Tyr) SNV Uncertain significance 998163 GRCh37: 10:96353361-96353361
GRCh38: 10:94593604-94593604
9 HELLS NM_018063.5(HELLS):c.1537A>G (p.Arg513Gly) SNV Uncertain significance 1028083 GRCh37: 10:96350218-96350218
GRCh38: 10:94590461-94590461
10 HELLS NM_018063.5(HELLS):c.360A>G (p.Glu120=) SNV Uncertain significance 1032786 GRCh37: 10:96322474-96322474
GRCh38: 10:94562717-94562717
11 HELLS NM_018063.5(HELLS):c.993G>A (p.Thr331=) SNV Benign 710853 rs112321661 GRCh37: 10:96336523-96336523
GRCh38: 10:94576766-94576766

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

Search GEO for disease gene expression data for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4.

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
Content
Loading form....