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 57 53 25 59 75
Myelocerebellar Disorder 57 53 25 59 75 29 6 73
Atxpc 57 25 75

Characteristics:

Orphanet epidemiological data:

59
ataxia-pancytopenia syndrome
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
ataxia-pancytopenia syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Ataxia-Pancytopenia Syndrome

NIH Rare Diseases : 53 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 bone, myeloid and bone marrow, and related phenotypes are nystagmus and ataxia

Genetics Home Reference : 25 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 : 57 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 : 75 Ataxia-pancytopenia syndrome: An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia.

Wikipedia : 76 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 12.4
2 pancytopenia 10.3
3 ataxia and polyneuropathy, adult-onset 10.0
4 aceruloplasminemia 10.0
5 leukemia 10.0

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



Diseases related to Ataxia-Pancytopenia Syndrome

Symptoms & Phenotypes for Ataxia-Pancytopenia Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ataxia-Pancytopenia Syndrome:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
4 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
5 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
6 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
7 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
8 pancytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001876
9 hypoplastic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001908
10 decreased antibody level in blood 59 32 occasional (7.5%) Occasional (29-5%) HP:0004313
11 aplasia/hypoplasia of the cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007360
12 abnormal platelet function 59 32 occasional (7.5%) Occasional (29-5%) HP:0011869
13 abnormality of neutrophils 59 32 frequent (33%) Frequent (79-30%) HP:0001874
14 cerebellar atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001272
15 unsteady gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002317
16 acute myelomonocytic leukemia 59 32 frequent (33%) Frequent (79-30%) HP:0004820
17 dysarthria 32 HP:0001260
18 gait disturbance 59 Very frequent (99-80%)
19 decreased nerve conduction velocity 32 HP:0000762
20 babinski sign 32 HP:0003487
21 dysmetria 32 HP:0001310
22 impaired vibration sensation in the lower limbs 32 HP:0002166
23 ankle clonus 32 HP:0011448
24 distal sensory impairment 32 occasional (7.5%) HP:0002936
25 abnormality of macrophages 59 Frequent (79-30%)
26 hyperactive deep tendon reflexes 32 HP:0006801
27 abnormality of the cerebral white matter 32 occasional (7.5%) HP:0002500
28 abnormal macrophage morphology 32 frequent (33%) HP:0004311

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 29 SAMD9L

Anatomical Context for Ataxia-Pancytopenia Syndrome

MalaCards organs/tissues related to Ataxia-Pancytopenia Syndrome:

41
Bone, Myeloid, 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:

75
# 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 rs878855336 GRCh37 Chromosome 7, 92762645: 92762645
2 SAMD9L NM_152703.4(SAMD9L): c.2640C> A (p.His880Gln) single nucleotide variant Pathogenic rs878855336 GRCh38 Chromosome 7, 93133332: 93133332
3 SAMD9L NM_152703.4(SAMD9L): c.3587G> C (p.Cys1196Ser) single nucleotide variant Pathogenic rs878855337 GRCh37 Chromosome 7, 92761698: 92761698
4 SAMD9L NM_152703.4(SAMD9L): c.3587G> C (p.Cys1196Ser) single nucleotide variant Pathogenic rs878855337 GRCh38 Chromosome 7, 93132385: 93132385
5 SAMD9L NM_152703.4(SAMD9L): c.2956C> T (p.Arg986Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 92762329: 92762329
6 SAMD9L NM_152703.4(SAMD9L): c.2956C> T (p.Arg986Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 93133016: 93133016
7 SAMD9L NM_152703.4(SAMD9L): c.2672T> C (p.Ile891Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 92762613: 92762613
8 SAMD9L NM_152703.4(SAMD9L): c.2672T> C (p.Ile891Thr) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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