Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 2; Icf2

Description

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 2; Icf2

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Motor delay
  • Depressed nasal bridge
  • Epicanthus

And another 14 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 2; Icf2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Immunodeficiency-centromeric instability-facial anomalies syndrome type2.

By Centogene AG - the Rare Disease Company (Germany).

ZBTB24
Specificity
100 %
Genes
100 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH (Germany).

RMRP, RUNX2, BLM, SMARCAL1, STAT3, TBX1, TERC, TERT, TINF2, TREX1, TYK2, WAS, NHP2, SPINK5, SAMHD1, NLRP3, RNASEH2A, DOCK8, ZBTB24, ADAR , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Invitae Immunodeficiency, Centromeric Instability, Facial Anomalies Syndrome Panel.

By Invitae (United States).

ZBTB24, DNMT3B
Specificity
50 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae (United States).

RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae (United States).

RMRP, SEMA3E, SMARCAL1, STAT3, STAT5B, STIM1, TBX1, TCN2, TERC, TERT, TINF2, WAS, WIPF1, FOXN1, NHP2, NOP10, SPINK5, RTEL1, DCLRE1B, TTC7A , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

BCS1L, RPS6KA3, SACS, BIN1, SCN1A, SCN8A, SDCCAG8, SGCA, SGSH, ST3GAL3, SLC16A2, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC2A1, SLC2A2, BRCA2, SLC4A4, SLC5A2 , (...)

View the complete list with 367 more genes
Specificity
1 %
Genes
100 %
ZBTB24.

By Fulgent Genetics Fulgent Genetics (United States).

ZBTB24
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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