Neutropenia, Severe Congenital, 3, Autosomal Recessive; Scn3

Description

Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Neutropenia, Severe Congenital, 3, Autosomal Recessive; Scn3

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Spasticity
  • Motor delay
  • Peripheral neuropathy
  • Cerebellar atrophy
  • Hepatosplenomegaly

And another 21 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 have a estimated prevalence of 0.07 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Neutropenia, Severe Congenital, 3, Autosomal Recessive; Scn3 Is also known as agranulocytosis, infantile, kostmann disease.

Researches and researchers

Doctors, researchs, and experts related to Neutropenia, Severe Congenital, 3, Autosomal Recessive; Scn3 extracted from public data.

Neutropenia, Severe Congenital, 3, Autosomal Recessive; Scn3 Experts map



Current Researchs and researchers

  • PARIS — Dr Jean DONADIEU

    Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of expert centre network - Coordinator of research network

    • Institution/s:
      — CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • Research area/topic::

      Congenital neutropenias study group


  • HANNOVER — Pr Karl H. WELTE

    Clinical expert - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Coordinator of patient registry network - Director of department

    • Institution/s:
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
      — Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
      — Universitätsklinik für Kinder- und Jugendmedizin Tübingen
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
    • Research area/topic::

      BMFS: Network for Congenital Bone Marrow Failure Syndromes


  • TÜBINGEN — Pr Karl H. WELTE

    Clinical expert - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Coordinator of patient registry network - Director of department

    • Institution/s:
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
      — Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
      — Universitätsklinik für Kinder- und Jugendmedizin Tübingen
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
    • Research area/topic::

      BMFS: Network for Congenital Bone Marrow Failure Syndromes


Neutropenia, Severe Congenital, 3, Autosomal Recessive; Scn3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
HAX1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

HAX1
Specificity
100 %
Genes
100 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Inherited Neutropenia panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TAZ, WAS, WIPF1, VPS45, HAX1, SBDS, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Inherited Neutropenia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TAZ, WAS, WIPF1, VPS45, HAX1, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A, RAC2
Specificity
5 %
Genes
100 %
HAX1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

HAX1
Specificity
100 %
Genes
100 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %

You can get up to 44 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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