ATXPC
MCID: ATX039
MIFTS: 29

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 58 54 26 60 76
Myelocerebellar Disorder 58 54 26 60 76 30 6 74
Atxpc 58 26 76

Characteristics:

Orphanet epidemiological data:

60
ataxia-pancytopenia syndrome
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
highly variable age at onset (range childhood to late adulthood)


HPO:

33
ataxia-pancytopenia syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Ataxia-Pancytopenia Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2585Disease definitionAtaxia-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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ataxia-Pancytopenia Syndrome, also known as myelocerebellar disorder, is related to samd9l-related ataxia-pancytopenia syndrome and pancytopenia, 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 and bone marrow, and related phenotypes are ataxia and aplasia/hypoplasia of the cerebellum

Genetics Home Reference : 26 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.

OMIM : 58 Ataxia-pancytopenia syndrome is an autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and presdisposition to bone marrow failure and myeloid leukemia (summary by Chen et al., 2016) (159550)

UniProtKB/Swiss-Prot : 76 Ataxia-pancytopenia syndrome: An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia.

Wikipedia : 77 Ataxia-pancytopenia syndrome is a rare autosomal dominant disorder characterized by cerebellar ataxia,... more...

Related Diseases for Ataxia-Pancytopenia Syndrome

Diseases in the Ataxia-Pancytopenia Syndrome family:

Samd9l-Related Ataxia-Pancytopenia Syndrome

Diseases related to Ataxia-Pancytopenia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 samd9l-related ataxia-pancytopenia syndrome 12.5
2 pancytopenia 10.4
3 aceruloplasminemia 10.0
4 leukemia 10.0

Symptoms & Phenotypes for Ataxia-Pancytopenia Syndrome

Human phenotypes related to Ataxia-Pancytopenia Syndrome:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 aplasia/hypoplasia of the cerebellum 60 33 hallmark (90%) Very frequent (99-80%) HP:0007360
3 cerebellar atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001272
4 unsteady gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002317
5 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
6 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
7 neurological speech impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002167
8 splenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001744
9 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
10 hypoplastic anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001908
11 abnormality of neutrophils 60 33 frequent (33%) Frequent (79-30%) HP:0001874
12 acute myelomonocytic leukemia 60 33 frequent (33%) Frequent (79-30%) HP:0004820
13 abnormal macrophage morphology 33 frequent (33%) HP:0004311
14 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
15 pancytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001876
16 decreased antibody level in blood 60 33 occasional (7.5%) Occasional (29-5%) HP:0004313
17 abnormal platelet function 60 33 occasional (7.5%) Occasional (29-5%) HP:0011869
18 distal sensory impairment 33 occasional (7.5%) HP:0002936
19 abnormality of the cerebral white matter 33 occasional (7.5%) HP:0002500
20 dysarthria 33 HP:0001260
21 gait disturbance 60 Very frequent (99-80%)
22 decreased nerve conduction velocity 33 HP:0000762
23 babinski sign 33 HP:0003487
24 dysmetria 33 HP:0001310
25 impaired vibration sensation in the lower limbs 33 HP:0002166
26 ankle clonus 33 HP:0011448
27 abnormality of macrophages 60 Frequent (79-30%)
28 hyperactive deep tendon reflexes 33 HP:0006801

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus

Hematology:
pancytopenia

Neoplasia:
increased risk of myeloid leukemia (in some patients)

Neurologic Central Nervous System:
dysarthria
hyperreflexia
dysmetria
cerebellar atrophy
ankle clonus
more
Neurologic Peripheral Nervous System:
distal sensory impairment (in some patients)
decreased nerve conduction velocities (in some patients)

Clinical features from OMIM:

159550

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 Myelocerebellar Disorder 30 SAMD9L

Anatomical Context for Ataxia-Pancytopenia Syndrome

MalaCards organs/tissues related to Ataxia-Pancytopenia Syndrome:

42
Myeloid, Bone, Bone Marrow, Brain, Cerebellum, Neutrophil

Publications for Ataxia-Pancytopenia Syndrome

Articles related to Ataxia-Pancytopenia Syndrome:

# Title Authors Year
1
Ataxia-pancytopenia syndrome with SAMD9L mutations. ( 28852709 )
2017
2
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. ( 27259050 )
2016
3
Ataxia-pancytopenia syndrome. ( 10678666 )
2000
4
SAMD9L-Related Ataxia-Pancytopenia Syndrome ( 28570036 )
1993
5
Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia. ( 6947857 )
1981

Variations for Ataxia-Pancytopenia Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 SAMD9L p.His880Gln VAR_077034 rs878855336

ClinVar genetic disease variations for Ataxia-Pancytopenia Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SAMD9L NM_152703.4(SAMD9L): c.2640C> A (p.His880Gln) single nucleotide variant Pathogenic/Likely pathogenic rs878855336 GRCh37 Chromosome 7, 92762645: 92762645
2 SAMD9L NM_152703.4(SAMD9L): c.2640C> A (p.His880Gln) single nucleotide variant Pathogenic/Likely pathogenic rs878855336 GRCh38 Chromosome 7, 93133332: 93133332
3 SAMD9L NM_152703.4(SAMD9L): c.3587G> C (p.Cys1196Ser) single nucleotide variant Pathogenic/Likely pathogenic rs878855337 GRCh37 Chromosome 7, 92761698: 92761698
4 SAMD9L NM_152703.4(SAMD9L): c.3587G> C (p.Cys1196Ser) single nucleotide variant Pathogenic/Likely pathogenic rs878855337 GRCh38 Chromosome 7, 93132385: 93132385
5 SAMD9L NM_152703.4(SAMD9L): c.2956C> T (p.Arg986Cys) single nucleotide variant Pathogenic rs1554341158 GRCh37 Chromosome 7, 92762329: 92762329
6 SAMD9L NM_152703.4(SAMD9L): c.2956C> T (p.Arg986Cys) single nucleotide variant Pathogenic rs1554341158 GRCh38 Chromosome 7, 93133016: 93133016
7 SAMD9L NM_152703.4(SAMD9L): c.2672T> C (p.Ile891Thr) single nucleotide variant Pathogenic rs1554341277 GRCh37 Chromosome 7, 92762613: 92762613
8 SAMD9L NM_152703.4(SAMD9L): c.2672T> C (p.Ile891Thr) single nucleotide variant Pathogenic rs1554341277 GRCh38 Chromosome 7, 93133300: 93133300

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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