MCID: SMD011
MIFTS: 11

Samd9l-Related Ataxia-Pancytopenia Syndrome

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Samd9l-Related Ataxia-Pancytopenia Syndrome

MalaCards integrated aliases for Samd9l-Related Ataxia-Pancytopenia Syndrome:

Name: Samd9l-Related Ataxia-Pancytopenia Syndrome 24

Characteristics:

GeneReviews:

24
Penetrance To date, all 24 carefully assessed affected individuals in the four families with pathogenic variants in samd9l exhibited clinical manifestations. one individual without hematologic cytopenias was not neurologically examined. expressivity of both hematologic and neurologic manifestations is extremely variable and shows no difference for males and females.

Classifications:



Summaries for Samd9l-Related Ataxia-Pancytopenia Syndrome

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

GeneReviews: NBK435692

Related Diseases for Samd9l-Related Ataxia-Pancytopenia Syndrome

Diseases in the Ataxia-Pancytopenia Syndrome family:

Samd9l-Related Ataxia-Pancytopenia Syndrome

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

# Related Disease Score Top Affiliating Genes
1 ataxia-pancytopenia syndrome 10.4
2 ataxia and polyneuropathy, adult-onset 10.4
3 aceruloplasminemia 10.4
4 pancytopenia 10.4
5 pathologic nystagmus 10.4

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



Diseases related to Samd9l-Related Ataxia-Pancytopenia Syndrome

Symptoms & Phenotypes for Samd9l-Related Ataxia-Pancytopenia Syndrome

Drugs & Therapeutics for Samd9l-Related Ataxia-Pancytopenia Syndrome

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

Genetic Tests for Samd9l-Related Ataxia-Pancytopenia Syndrome

Anatomical Context for Samd9l-Related Ataxia-Pancytopenia Syndrome

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

40
Bone, Myeloid, Bone Marrow

Publications for Samd9l-Related Ataxia-Pancytopenia Syndrome

Articles related to Samd9l-Related Ataxia-Pancytopenia Syndrome:

(show all 13)
# Title Authors PMID Year
1
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. 24
28202457 2017
2
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. 24
27182967 2016
3
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. 24
27259050 2016
4
SAMD9L inactivation promotes cell proliferation via facilitating G1-S transition in hepatitis B virus-associated hepatocellular carcinoma. 24
25076857 2014
5
Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. 24
24029230 2013
6
Exome sequencing of hepatitis B virus-associated hepatocellular carcinoma. 24
22922871 2012
7
Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis. 24
22716256 2012
8
Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse. 24
17407603 2007
9
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. 24
16960814 2006
10
Ataxia-pancytopenia and monosomy 7 syndrome. 24
2738778 1989
11
Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia. 24
6947857 1981
12
A family with acute leukemia, hypoplastic anemia and cerebellar ataxia: association with bone marrow C-monosomy. 24
283689 1978
13
SAMD9L-Related Ataxia-Pancytopenia Syndrome 61
28570036 2017

Variations for Samd9l-Related Ataxia-Pancytopenia Syndrome

Expression for Samd9l-Related Ataxia-Pancytopenia Syndrome

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

Pathways for Samd9l-Related Ataxia-Pancytopenia Syndrome

GO Terms for Samd9l-Related Ataxia-Pancytopenia Syndrome

Sources for Samd9l-Related Ataxia-Pancytopenia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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