Ataxia-pancytopenia Syndrome

Description

Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

Clinical Features

Top most frequent phenotypes and symptoms related to Ataxia-pancytopenia Syndrome

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance
  • Cerebellar atrophy
  • Splenomegaly

And another 39 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Ataxia-pancytopenia Syndrome Is also known as myelocerebellar disorder.

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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Ataxia-pancytopenia Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Comprehensive Hereditary Cancer Panel.

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

RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SRP72, STK11, EPCAM, TERC, TERT, TP53, VHL, IKZF1, SAMD9, SAMD9L, CBL , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Hereditary Leukemia and Breast Cancer Panel.

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

RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TP53, IKZF1, SAMD9, SAMD9L, CBL, RTEL1, CDH1, CEBPA, DDX41, PALB2, ANKRD26, ETV6, GATA2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL).

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

RUNX1, SRP72, TERC, TERT, TP53, IKZF1, SAMD9, SAMD9L, RTEL1, CEBPA, DDX41, ANKRD26, ETV6, GATA2, PAX5
Specificity
7 %
Genes
100 %
Ataxia Exome Panel.

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

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

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

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, SRP72, STK11, EPCAM, TERC, TERT, TP53, TRIP13, TSC1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RUNX1, SRP72, TERC, TERT, TP53, SAMD9L, CEBPA, DDX41, ANKRD26, ETV6, GATA2
Specificity
10 %
Genes
100 %

We have 7 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

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