ATXPC
MCID: ATX039
MIFTS: 33

Ataxia-Pancytopenia Syndrome (ATXPC)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ataxia-Pancytopenia Syndrome

MalaCards integrated aliases for Ataxia-Pancytopenia Syndrome:

Name: Ataxia-Pancytopenia Syndrome 57 20 43 58 72 29 6
Myelocerebellar Disorder 57 20 43 58 72 70
Atxpc 57 43 72

Characteristics:

Orphanet epidemiological data:

58
ataxia-pancytopenia syndrome
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
highly variable age at onset (range childhood to late adulthood)
variable expressivity and severity

Inheritance:
autosomal dominant


HPO:

31
ataxia-pancytopenia syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Ataxia-Pancytopenia Syndrome

MedlinePlus Genetics : 43 Ataxia-pancytopenia syndrome is a rare condition that affects the part of the brain that coordinates movement (the cerebellum) and blood-forming cells in the bone marrow. The age when signs and symptoms begin, the severity of the condition, and the rate at which it worsens all vary among affected individuals.People with ataxia-pancytopenia syndrome have neurological problems associated with a loss of tissue (atrophy) and other changes in the cerebellum. These problems include poor coordination and balance (ataxia), difficulty with movements that involve judging distance or scale (dysmetria), uncontrollable muscle contractions (clonus), and involuntary back-and-forth eye movements (nystagmus). These neurological issues worsen over time, making walking and other movements challenging. Some affected individuals eventually require wheelchair assistance.Ataxia-pancytopenia syndrome also causes a shortage of one or more types of normal blood cells: red blood cells, white blood cells, and platelets. A shortage of all three of these cell types is known as pancytopenia. Pancytopenia can result in extreme tiredness (fatigue) due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and abnormal bleeding due to low numbers of platelets (thrombocytopenia). Ataxia-pancytopenia syndrome is also associated with an increased risk of certain cancerous conditions of the blood, particularly myelodysplastic syndrome and acute myeloid leukemia.

MalaCards based summary : Ataxia-Pancytopenia Syndrome, also known as myelocerebellar disorder, is related to samd9l ataxia-pancytopenia syndrome and ataxia and polyneuropathy, adult-onset, and has symptoms including cerebellar ataxia An important gene associated with Ataxia-Pancytopenia Syndrome is SAMD9L (Sterile Alpha Motif Domain Containing 9 Like). Affiliated tissues include myeloid, bone marrow and cerebellum, and related phenotypes are ataxia and aplasia/hypoplasia of the cerebellum

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2585 Definition 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.

OMIM® : 57 Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. The germline genetic defect is associated with somatic loss of chromosome 7 (monosomy 7) resulting in the deletion of several genes on chromosome 7 that may predispose to the development of myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) (summary by Chen et al., 2016 and Tesi et al., 2017). (159550) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Ataxia-pancytopenia syndrome: An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia.

Wikipedia : 73 Ataxia-pancytopenia syndrome is a rare autosomal dominant disorder characterized by cerebellar ataxia,... more...

Related Diseases for Ataxia-Pancytopenia Syndrome

Graphical network of the top 20 diseases related to Ataxia-Pancytopenia Syndrome:



Diseases related to Ataxia-Pancytopenia Syndrome

Symptoms & Phenotypes for Ataxia-Pancytopenia Syndrome

Human phenotypes related to Ataxia-Pancytopenia Syndrome:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
3 cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001272
4 unsteady gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002317
5 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
6 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
7 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
8 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
9 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
10 abnormality of neutrophils 58 31 frequent (33%) Frequent (79-30%) HP:0001874
11 hypoplastic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001908
12 abnormal macrophage morphology 58 31 frequent (33%) Frequent (79-30%) HP:0004311
13 acute myelomonocytic leukemia 58 31 frequent (33%) Frequent (79-30%) HP:0004820
14 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
15 abnormal platelet function 58 31 occasional (7.5%) Occasional (29-5%) HP:0011869
16 pancytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001876
17 distal sensory impairment 31 occasional (7.5%) HP:0002936
18 decreased circulating antibody level 31 occasional (7.5%) HP:0004313
19 abnormality of the cerebral white matter 31 very rare (1%) HP:0002500
20 dysarthria 31 HP:0001260
21 gait disturbance 58 Very frequent (99-80%)
22 anemia 31 HP:0001903
23 decreased nerve conduction velocity 31 HP:0000762
24 thrombocytopenia 31 HP:0001873
25 decreased antibody level in blood 58 Occasional (29-5%)
26 dysmetria 31 HP:0001310
27 neutropenia 31 HP:0001875
28 babinski sign 31 HP:0003487
29 hyperactive deep tendon reflexes 31 HP:0006801
30 ankle clonus 31 HP:0011448
31 impaired vibration sensation in the lower limbs 31 HP:0002166

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysmetria
cerebellar atrophy
ankle clonus
more
Immunology:
immunodeficiency
recurrent infections
hypogammaglobulinemia

Neurologic Peripheral Nervous System:
distal sensory impairment (in some patients)
decreased nerve conduction velocities (in some patients)

Neoplasia:
increased risk of aml

Head And Neck Eyes:
nystagmus

Hematology:
anemia
thrombocytopenia
neutropenia
pancytopenia
macrocytosis
more
Neurologic Behavioral Psychiatric Manifestations:
adhd

Clinical features from OMIM®:

159550 (Updated 20-May-2021)

UMLS symptoms related to Ataxia-Pancytopenia Syndrome:


cerebellar ataxia

Drugs & Therapeutics for Ataxia-Pancytopenia Syndrome

Search Clinical Trials , NIH Clinical Center for Ataxia-Pancytopenia Syndrome

Genetic Tests for Ataxia-Pancytopenia Syndrome

Genetic tests related to Ataxia-Pancytopenia Syndrome:

# Genetic test Affiliating Genes
1 Ataxia-Pancytopenia Syndrome 29 SAMD9L

Anatomical Context for Ataxia-Pancytopenia Syndrome

MalaCards organs/tissues related to Ataxia-Pancytopenia Syndrome:

40
Myeloid, Bone Marrow, Cerebellum, Eye, Bone, Placenta

Publications for Ataxia-Pancytopenia Syndrome

Articles related to Ataxia-Pancytopenia Syndrome:

(show all 17)
# Title Authors PMID Year
1
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. 57 6 61
27259050 2016
2
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. 57 6
28202457 2017
3
A family with acute leukemia, hypoplastic anemia and cerebellar ataxia: association with bone marrow C-monosomy. 6 57
283689 1978
4
Ataxia-pancytopenia syndrome. 61 57
10678666 2000
5
Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia. 61 57
6947857 1981
6
Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes. 6
30046003 2018
7
Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7. 6
2569483 1989
8
Ataxia-pancytopenia and monosomy 7 syndrome. 57
2738778 1989
9
Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy. 61
32808377 2020
10
The Neuropathology of MIRAGE Syndrome. 61
32106287 2020
11
A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia. 61
30923096 2019
12
Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27 years of investigations - a case report. 61
31053103 2019
13
Sequencing of human genomes with nanopore technology. 61
31015479 2019
14
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies. 61
29535429 2018
15
[Association between SAMD9/SAMD9L and hematological malignancies]. 61
30531146 2018
16
Ataxia-pancytopenia syndrome with SAMD9L mutations. 61
28852709 2017
17
SAMD9L Ataxia-Pancytopenia Syndrome 61
28570036 2017

Variations for Ataxia-Pancytopenia Syndrome

ClinVar genetic disease variations for Ataxia-Pancytopenia Syndrome:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SAMD9L NM_152703.5(SAMD9L):c.3229C>T (p.Arg1077Ter) SNV Pathogenic 975834 GRCh37: 7:92762056-92762056
GRCh38: 7:93132743-93132743
2 SAMD9L NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter) SNV Pathogenic 774190 rs150070697 GRCh37: 7:92764069-92764069
GRCh38: 7:93134756-93134756
3 SAMD9L NM_152703.5(SAMD9L):c.2672T>C (p.Ile891Thr) SNV Pathogenic 446529 rs1554341277 GRCh37: 7:92762613-92762613
GRCh38: 7:93133300-93133300
4 SAMD9L NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) SNV Pathogenic 446530 rs1554341158 GRCh37: 7:92762329-92762329
GRCh38: 7:93133016-93133016
5 SAMD9L NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) SNV Pathogenic/Likely pathogenic 242372 rs878855336 GRCh37: 7:92762645-92762645
GRCh38: 7:93133332-93133332
6 SAMD9L NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser) SNV Pathogenic/Likely pathogenic 242373 rs878855337 GRCh37: 7:92761698-92761698
GRCh38: 7:93132385-93132385
7 SAMD9L NM_152703.5(SAMD9L):c.2905A>G (p.Thr969Ala) SNV Likely pathogenic 983121 GRCh37: 7:92762380-92762380
GRCh38: 7:93133067-93133067
8 SAMD9L NM_152703.5(SAMD9L):c.2956C>A (p.Arg986Ser) SNV Uncertain significance 691978 rs1554341158 GRCh37: 7:92762329-92762329
GRCh38: 7:93133016-93133016
9 SAMD9L NM_152703.5(SAMD9L):c.1617_1618del (p.Gly541fs) Deletion Uncertain significance 814015 rs1584279870 GRCh37: 7:92763667-92763668
GRCh38: 7:93134354-93134355
10 SAMD9L NM_152703.5(SAMD9L):c.3965T>A (p.Leu1322Ter) SNV Uncertain significance 816646 rs1584271706 GRCh37: 7:92761320-92761320
GRCh38: 7:93132007-93132007
11 SAMD9L NM_152703.5(SAMD9L):c.3156C>G (p.Asp1052Glu) SNV Uncertain significance 930856 GRCh37: 7:92762129-92762129
GRCh38: 7:93132816-93132816
12 SAMD9L NM_152703.5(SAMD9L):c.748G>T (p.Val250Phe) SNV Uncertain significance 973884 GRCh37: 7:92764537-92764537
GRCh38: 7:93135224-93135224

UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Pancytopenia Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 SAMD9L p.His880Gln VAR_077034 rs878855336

Expression for Ataxia-Pancytopenia Syndrome

Search GEO for disease gene expression data for Ataxia-Pancytopenia Syndrome.

Pathways for Ataxia-Pancytopenia Syndrome

GO Terms for Ataxia-Pancytopenia Syndrome

Sources for Ataxia-Pancytopenia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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