MCID: ATX039
MIFTS: 30

Ataxia-Pancytopenia Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Ataxia-Pancytopenia Syndrome

MalaCards integrated aliases for Ataxia-Pancytopenia Syndrome:

Name: Ataxia-Pancytopenia Syndrome 54 50 56 71
Myelocerebellar Disorder 50 56 71 29 69
Atxpc 71

Characteristics:

Orphanet epidemiological data:

56
ataxia-pancytopenia syndrome
Inheritance: Autosomal dominant;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
ataxia-pancytopenia syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Ataxia-Pancytopenia Syndrome

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.

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 nystagmus, ataxia and recurrent respiratory infections. An important gene associated with Ataxia-Pancytopenia Syndrome is SAMD9L (Sterile Alpha Motif Domain Containing 9 Like). Affiliated tissues include bone, bone marrow and myeloid.

OMIM : 54
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 : 71 Ataxia-pancytopenia syndrome: An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia.

Wikipedia : 72 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:

id Related Disease Score Top Affiliating Genes
1 samd9l-related ataxia-pancytopenia syndrome 12.2
2 pancytopenia 10.1
3 ataxia 10.1
4 cerebellar ataxia 9.8
5 leukemia 9.8

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:

54

Head And Neck- Eyes:
nystagmus

Hematology:
pancytopenia

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

Neurologic- Central Nervous System:
dysarthria
hyperreflexia
extensor plantar responses
cerebellar ataxia
gait instability
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:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
2 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
4 hyperreflexia 56 32 frequent (33%) Frequent (79-30%) HP:0001347
5 splenomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001744
6 unsteady gait 56 32 hallmark (90%) Very frequent (99-80%) HP:0002317
7 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
8 cerebellar atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001272
9 pancytopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001876
10 hypoplastic anemia 56 32 frequent (33%) Frequent (79-30%) HP:0001908
11 neurological speech impairment 56 32 frequent (33%) Frequent (79-30%) HP:0002167
12 decreased antibody level in blood 56 32 occasional (7.5%) Occasional (29-5%) HP:0004313
13 aplasia/hypoplasia of the cerebellum 56 32 hallmark (90%) Very frequent (99-80%) HP:0007360
14 abnormal platelet function 56 32 occasional (7.5%) Occasional (29-5%) HP:0011869
15 abnormality of neutrophils 56 32 frequent (33%) Frequent (79-30%) HP:0001874
16 abnormality of macrophages 56 32 frequent (33%) Frequent (79-30%) HP:0004311
17 acute myelomonocytic leukemia 56 32 frequent (33%) Frequent (79-30%) HP:0004820
18 dysmetria 32 HP:0001310
19 decreased nerve conduction velocity 32 HP:0000762
20 gait disturbance 56 Very frequent (99-80%)
21 hyperactive deep tendon reflexes 32 HP:0006801
22 impaired vibration sensation in the lower limbs 32 HP:0002166

UMLS symptoms related to Ataxia-Pancytopenia Syndrome:


cerebellar ataxia

Drugs & Therapeutics for Ataxia-Pancytopenia Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274

Search NIH Clinical Center for Ataxia-Pancytopenia Syndrome

Genetic Tests for Ataxia-Pancytopenia Syndrome

Genetic tests related to Ataxia-Pancytopenia Syndrome:

id Genetic test Affiliating Genes
1 Myelocerebellar Disorder 29

Anatomical Context for Ataxia-Pancytopenia Syndrome

MalaCards organs/tissues related to Ataxia-Pancytopenia Syndrome:

39
Bone, Bone Marrow, Myeloid, Cerebellum, Brain, Neutrophil

Publications for Ataxia-Pancytopenia Syndrome

Articles related to Ataxia-Pancytopenia Syndrome:

id 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:

71
id Symbol AA change Variation ID SNP ID
1 SAMD9L p.His880Gln VAR_077034 rs878855336

ClinVar genetic disease variations for Ataxia-Pancytopenia Syndrome:

6
id 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.3587G> C (p.Cys1196Ser) single nucleotide variant Pathogenic rs878855337 GRCh37 Chromosome 7, 92761698: 92761698

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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