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Neutropenia, severe congenital, 9, autosomal dominant(SCN9)

MedGen UID:
1802793
•Concept ID:
C5676954
•
Disease or Syndrome
Synonyms: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9
 
Gene (location): CLPB (11q13.4)
 
Monarch Initiative: MONDO:0030726
OMIM®: 619813

Definition

Autosomal dominant severe congenital neutropenia-9 (SCN9) is characterized by onset of neutropenia in the first years of life. Most patients have recurrent infections; bone marrow examination shows a myeloid maturation arrest. Rare patients may exhibit additional features such as seizures, learning difficulties, or cataracts, which are more commonly observed in patients with MGCA7 (616271). However, patients with SCN9 do not have 3-methylglutaconic aciduria, and most have normal neurologic function (Warren et al., 2022). For a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). [from OMIM]

Clinical features

From HPO
3-Methylglutaconic aciduria
MedGen UID:
777186
•Concept ID:
C3696376
•
Disease or Syndrome
An increased amount of 3-methylglutaconic acid in the urine.
See: Feature record | Search on this feature
Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
See: Feature record | Search on this feature
Myeloid maturation arrest
MedGen UID:
1784075
•Concept ID:
C0151787
•
Cell or Molecular Dysfunction
Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Cataract
MedGen UID:
39462
•Concept ID:
C0086543
•
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Cyclic and chronic neutropenia.
Dale DC, Welte K
Cancer Treat Res 2011;157:97-108. doi: 10.1007/978-1-4419-7073-2_6. PMID: 21052952
Severe congenital neutropenia.
Welte K, Zeidler C
Hematol Oncol Clin North Am 2009 Apr;23(2):307-20. doi: 10.1016/j.hoc.2009.01.013. PMID: 19327585
Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia.
Zeidler C, Germeshausen M, Klein C, Welte K
Br J Haematol 2009 Feb;144(4):459-67. Epub 2008 Dec 10 doi: 10.1111/j.1365-2141.2008.07425.x. PMID: 19120359
Severe congenital neutropenia.
Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461
Congenital neutropenias.
Zeidler C, Schwinzer B, Welte K
Rev Clin Exp Hematol 2003 Mar;7(1):72-83. PMID: 14692235

Diagnosis

Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome.
Dale DC, Dick E, Kelley M, Makaryan V, Connelly J, Bolyard AA
Curr Opin Hematol 2020 Jan;27(1):11-17. doi: 10.1097/MOH.0000000000000554. PMID: 31652152Free PMC Article
Cyclic and chronic neutropenia.
Dale DC, Welte K
Cancer Treat Res 2011;157:97-108. doi: 10.1007/978-1-4419-7073-2_6. PMID: 21052952
Severe congenital neutropenia.
Welte K, Zeidler C
Hematol Oncol Clin North Am 2009 Apr;23(2):307-20. doi: 10.1016/j.hoc.2009.01.013. PMID: 19327585
Congenital neutropenias.
Zeidler C, Schwinzer B, Welte K
Rev Clin Exp Hematol 2003 Mar;7(1):72-83. PMID: 14692235

Therapy

Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia.
Zeidler C, Germeshausen M, Klein C, Welte K
Br J Haematol 2009 Feb;144(4):459-67. Epub 2008 Dec 10 doi: 10.1111/j.1365-2141.2008.07425.x. PMID: 19120359
Severe congenital neutropenia.
Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461
Congenital neutropenias.
Zeidler C, Schwinzer B, Welte K
Rev Clin Exp Hematol 2003 Mar;7(1):72-83. PMID: 14692235
Kostmann syndrome and severe congenital neutropenia.
Zeidler C, Welte K
Semin Hematol 2002 Apr;39(2):82-8. doi: 10.1053/shem.2002.31913. PMID: 11957189
Dominantly inherited severe congenital neutropenia.
Briars GL, Parry HF, Ansari BM
J Infect 1996 Sep;33(2):123-6. doi: 10.1016/s0163-4453(96)93081-9. PMID: 8890001

Prognosis

Severe congenital neutropenia.
Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461
Congenital neutropenias.
Zeidler C, Schwinzer B, Welte K
Rev Clin Exp Hematol 2003 Mar;7(1):72-83. PMID: 14692235
Kostmann syndrome and severe congenital neutropenia.
Zeidler C, Welte K
Semin Hematol 2002 Apr;39(2):82-8. doi: 10.1053/shem.2002.31913. PMID: 11957189

Clinical prediction guides

Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome.
Dale DC, Dick E, Kelley M, Makaryan V, Connelly J, Bolyard AA
Curr Opin Hematol 2020 Jan;27(1):11-17. doi: 10.1097/MOH.0000000000000554. PMID: 31652152Free PMC Article
Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia.
Zeidler C, Germeshausen M, Klein C, Welte K
Br J Haematol 2009 Feb;144(4):459-67. Epub 2008 Dec 10 doi: 10.1111/j.1365-2141.2008.07425.x. PMID: 19120359

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      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
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