MCID: IMM147
MIFTS: 18

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4

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 75 29 6
Icf4 57 75
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 4 40
Icf Syndrome 4 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
immunodeficiency-centromeric instability-facial anomalies syndrome 4:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 616911
Disease Ontology 12 DOID:0090011
ICD10 33 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)

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 epicanthus and hypertelorism

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 : 75 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...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthal folds

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

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

Head And Neck Nose:
flat nasal bridge

Immunology:
recurrent infections
hypo- or agammaglobulinemia
normal b cells


Clinical features from OMIM:

616911

Human phenotypes related to Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 epicanthus 32 HP:0000286
2 hypertelorism 32 HP:0000316
3 intellectual disability 32 very rare (1%) HP:0001249
4 global developmental delay 32 occasional (7.5%) HP:0001263
5 motor delay 32 very rare (1%) HP:0001270
6 recurrent infections 32 HP:0002719
7 decreased antibody level in blood 32 HP:0004313
8 depressed nasal bridge 32 HP:0005280

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:

41
B Cells

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

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

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

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 HELLS NM_001289067.1(HELLS): c.2234A> G (p.Gln745Arg) single nucleotide variant Pathogenic rs879253733 GRCh38 Chromosome 10, 94594702: 94594702
2 HELLS NM_001289067.1(HELLS): c.2234A> G (p.Gln745Arg) single nucleotide variant Pathogenic rs879253733 GRCh37 Chromosome 10, 96354459: 96354459
3 HELLS NM_001289067.1(HELLS): c.370+2T> A single nucleotide variant Pathogenic rs140316223 GRCh38 Chromosome 10, 94562729: 94562729
4 HELLS NM_001289067.1(HELLS): c.370+2T> A single nucleotide variant Pathogenic rs140316223 GRCh37 Chromosome 10, 96322486: 96322486
5 HELLS NM_001289067.1(HELLS): c.2421_2424delGTCT (p.Ser808Argfs) deletion Pathogenic rs879253734 GRCh38 Chromosome 10, 94596894: 94596897
6 HELLS NM_001289067.1(HELLS): c.2421_2424delGTCT (p.Ser808Argfs) deletion Pathogenic rs879253734 GRCh37 Chromosome 10, 96356651: 96356654
7 HELLS NM_001289067.1(HELLS): c.610A> T (p.Lys204Ter) single nucleotide variant Pathogenic rs879253735 GRCh38 Chromosome 10, 94574092: 94574092
8 HELLS NM_001289067.1(HELLS): c.610A> T (p.Lys204Ter) single nucleotide variant Pathogenic rs879253735 GRCh37 Chromosome 10, 96333849: 96333849
9 HELLS NM_001289067.1(HELLS): c.374_381dupTGAGGAAA (p.Lys128Terfs) duplication Pathogenic rs879253736 GRCh38 Chromosome 10, 94562815: 94562822
10 HELLS NM_001289067.1(HELLS): c.374_381dupTGAGGAAA (p.Lys128Terfs) duplication Pathogenic rs879253736 GRCh37 Chromosome 10, 96322572: 96322579
11 HELLS NM_001289067.1(HELLS): c.2538_2540delGTT (p.Leu847del) deletion Pathogenic rs879253737 GRCh38 Chromosome 10, 94597089: 94597091
12 HELLS NM_001289067.1(HELLS): c.2538_2540delGTT (p.Leu847del) deletion Pathogenic rs879253737 GRCh37 Chromosome 10, 96356846: 96356848

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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