MCID: SMD012
MIFTS: 10

Samd9l Ataxia-Pancytopenia Syndrome

Aliases & Classifications for Samd9l Ataxia-Pancytopenia Syndrome

MalaCards integrated aliases for Samd9l Ataxia-Pancytopenia Syndrome:

Name: Samd9l Ataxia-Pancytopenia Syndrome 25
Samd9l-Atxpc Syndrome 25

Characteristics:

GeneReviews:

25
Penetrance Given the variable expressivity of both hematologic and neurologic manifestations, the sometimes episodic asymptomatic cytopenias, the paucity of detailed neurologic/neuroimaging evaluations, and the effect of additional somatic genetic events on the hematologic manifestations (see genotype-phenotype correlations), it is difficult to estimate the penetrance. however, the majority of persons with a pathogenic variant in samd9l will manifest some feature of the syndrome. there is no difference in range of manifestations for males and females....

Summaries for Samd9l Ataxia-Pancytopenia Syndrome

MalaCards based summary : Samd9l Ataxia-Pancytopenia Syndrome, also known as samd9l-atxpc syndrome, is related to ataxia-pancytopenia syndrome and ataxia and polyneuropathy, adult-onset. An important gene associated with Samd9l Ataxia-Pancytopenia Syndrome is SAMD9L (Sterile Alpha Motif Domain Containing 9 Like). Affiliated tissues include bone marrow and myeloid.

GeneReviews: NBK435692

Related Diseases for Samd9l Ataxia-Pancytopenia Syndrome

Diseases related to Samd9l Ataxia-Pancytopenia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia-pancytopenia syndrome 10.2
2 ataxia and polyneuropathy, adult-onset 10.2
3 neutropenia 10.2
4 pancytopenia 10.2
5 thrombocytopenia 10.2
6 placenta disease 10.2
7 pathologic nystagmus 10.2
8 dysphagia 10.2

Graphical network of the top 20 diseases related to Samd9l Ataxia-Pancytopenia Syndrome:



Diseases related to Samd9l Ataxia-Pancytopenia Syndrome

Symptoms & Phenotypes for Samd9l Ataxia-Pancytopenia Syndrome

Drugs & Therapeutics for Samd9l Ataxia-Pancytopenia Syndrome

Search Clinical Trials , NIH Clinical Center for Samd9l Ataxia-Pancytopenia Syndrome

Genetic Tests for Samd9l Ataxia-Pancytopenia Syndrome

Anatomical Context for Samd9l Ataxia-Pancytopenia Syndrome

MalaCards organs/tissues related to Samd9l Ataxia-Pancytopenia Syndrome:

40
Bone Marrow, Myeloid

Publications for Samd9l Ataxia-Pancytopenia Syndrome

Articles related to Samd9l Ataxia-Pancytopenia Syndrome:

(show all 33)
# Title Authors PMID Year
1
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. 25
31874111 2020
2
Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations. 25
31306780 2019
3
A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia. 25
30923096 2019
4
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. 25
31053103 2019
5
Sequencing of human genomes with nanopore technology. 25
31015479 2019
6
A virus-packageable CRISPR screen identifies host factors mediating interferon inhibition of HIV. 25
30520725 2018
7
Human Host Range Restriction of the Vaccinia Virus C7/K1 Double Deletion Mutant Is Mediated by an Atypical Mode of Translation Inhibition. 25
30209174 2018
8
Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes. 25
30322869 2018
9
Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes. 25
30046003 2018
10
The enigma of monosomy 7. 25
29615405 2018
11
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7. 25
29217778 2018
12
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. 25
29440566 2018
13
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. 25
29146883 2018
14
Scales for the clinical evaluation of cerebellar disorders. 25
29903450 2018
15
The genomic landscape of pediatric myelodysplastic syndromes. 25
29146900 2017
16
Ataxia-pancytopenia syndrome with SAMD9L mutations. 25
28852709 2017
17
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. 25
28202457 2017
18
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. 25
27259050 2016
19
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial. 25
26321318 2015
20
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
21
SAMD9 is an innate antiviral host factor with stress response properties that can be antagonized by poxviruses. 25
25428864 2015
22
Therapies for ataxias. 25
24832479 2014
23
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 25
24418350 2014
24
SAMD9L inactivation promotes cell proliferation via facilitating G1-S transition in hepatitis B virus-associated hepatocellular carcinoma. 25
25076857 2014
25
Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. 25
24176420 2013
26
Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. 25
24029230 2013
27
A short hairpin RNA screen of interferon-stimulated genes identifies a novel negative regulator of the cellular antiviral response. 25
23781071 2013
28
Exome sequencing of hepatitis B virus-associated hepatocellular carcinoma. 25
22922871 2012
29
Sterile alpha motif containing domain 9 is involved in death signaling of malignant glioma treated with inactivated Sendai virus particle (HVJ-E) or type I interferon. 25
19830690 2010
30
Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse. 25
17407603 2007
31
Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia. 25
6947857 1981
32
A family with acute leukemia, hypoplastic anemia and cerebellar ataxia: association with bone marrow C-monosomy. 25
283689 1978
33
SAMD9L Ataxia-Pancytopenia Syndrome 61
28570036 2017

Variations for Samd9l Ataxia-Pancytopenia Syndrome

Expression for Samd9l Ataxia-Pancytopenia Syndrome

Search GEO for disease gene expression data for Samd9l Ataxia-Pancytopenia Syndrome.

Pathways for Samd9l Ataxia-Pancytopenia Syndrome

GO Terms for Samd9l Ataxia-Pancytopenia Syndrome

Sources for Samd9l 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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