Icf Syndrome

Description

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

Clinical Features

Top most frequent phenotypes and symptoms related to Icf Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Anemia

And another 39 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.

Alternative names

Icf Syndrome Is also known as centromeric instability, immunodeficiency syndrome, immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16, ciid, immunodeficiency-centromeric instability-facial anomalies syndrome, immunodeficiency syndrome, variable.

Researches and researchers

Doctors, researchs, and experts related to Icf Syndrome extracted from public data.

Icf Syndrome Experts map



Current Researchs and researchers

  • PARIS — Dr Claire FRANCASTEL

    Investigator of research project

    • Institution/s:
      — Université Paris Diderot
    • Research area/topic::

      GenOmics of the ICF syndrome: when studying a rare disease also sheds new light on the (old) field of DNA methylation


  • FREIBURG — Pr Stephan EHL

    Coordinator of expert centre - Clinical expert - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Universitätsklinikum Freiburg
      — CCI am Universitätsklinikum Freiburg
    • Research area/topic::

      A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)


  • FREIBURG — Dr Carsten SPECKMANN

    Clinical expert - Investigator of research project

    • Institution/s:
      — Universitätsklinikum Freiburg
      — CCI am Universitätsklinikum Freiburg
    • Research area/topic::

      A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)


  • NAPOLI — Dr Maria MATARAZZO

    Investigator of research project

    • Institution/s:
      — Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
    • Research area/topic::

      Exploring The Pathogenetic Basis of ICF Syndrome With Human Induced Pluripotent Stem Cells



Mendelian

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Icf Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CDCA7.

By Fulgent Genetics Fulgent Genetics (United States).

CDCA7
Specificity
100 %
Genes
25 %
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
2 %
Genes
100 %
ICF SYNDROME.

By Laboratorio de Genetica Clinica SL (Spain).

CDCA7, ZBTB24, DNMT3B, HELLS
Specificity
100 %
Genes
100 %
Coffin-Siris Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, BTD, HDAC8, ADNP, ARID2, ARID1B, PHF6, ANKRD11, SMC3, PIGV, NIPBL, TBC1D24, HELLS, KMT2D , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
HELLS.

By Fulgent Genetics Fulgent Genetics (United States).

HELLS
Specificity
100 %
Genes
25 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
50 %
Immunodeficiency-centromeric instability-facial anomalies syndrome type2.

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

ZBTB24
Specificity
100 %
Genes
25 %
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
6 %
Genes
50 %

We have 17 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2 COFFIN-SIRIS SYNDROME 4; CSS4

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