MCID: ASH005
MIFTS: 11

Asah1-Related Disorders

Aliases & Classifications for Asah1-Related Disorders

MalaCards integrated aliases for Asah1-Related Disorders:

Name: Asah1-Related Disorders 24

Summaries for Asah1-Related Disorders

MalaCards based summary : Asah1-Related Disorders is related to spinal muscular atrophy with progressive myoclonic epilepsy and farber lipogranulomatosis. An important gene associated with Asah1-Related Disorders is ASAH1 (N-Acylsphingosine Amidohydrolase 1). Affiliated tissues include skin, testes and bone.

GeneReviews: NBK488189

Related Diseases for Asah1-Related Disorders

Diseases related to Asah1-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy with progressive myoclonic epilepsy 10.1
2 farber lipogranulomatosis 10.1
3 myoclonic epilepsy of unverricht and lundborg 10.1
4 scoliosis 10.1
5 sensorineural hearing loss 10.1
6 spinal muscular atrophy 10.1
7 motor neuron disease 10.1
8 early myoclonic encephalopathy 10.1
9 muscular atrophy 10.1
10 myoclonus 10.1
11 tremor 10.1
12 hematopoietic stem cell transplantation 10.1

Graphical network of the top 20 diseases related to Asah1-Related Disorders:



Diseases related to Asah1-Related Disorders

Symptoms & Phenotypes for Asah1-Related Disorders

Drugs & Therapeutics for Asah1-Related Disorders

Search Clinical Trials , NIH Clinical Center for Asah1-Related Disorders

Genetic Tests for Asah1-Related Disorders

Anatomical Context for Asah1-Related Disorders

MalaCards organs/tissues related to Asah1-Related Disorders:

41
Skin, Testes, Bone, Bone Marrow

Publications for Asah1-Related Disorders

Articles related to Asah1-Related Disorders:

(show all 46)
# Title Authors PMID Year
1
Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice. 4
28275553 2017
2
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. 4
28251733 2017
3
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study. 4
27026573 2016
4
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation. 4
27723502 2016
5
Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency. 4
27650050 2016
6
Spinal muscular atrophy associated with progressive myoclonus epilepsy. 4
27647482 2016
7
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease. 4
26945816 2016
8
Nervous system involvement in Farber disease. 4
26373951 2016
9
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. 4
26526000 2015
10
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. 4
25847462 2015
11
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. 4
24355074 2014
12
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. 4
24164096 2014
13
Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation. 4
23881344 2014
14
Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation. 4
24614645 2014
15
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. 4
24077912 2014
16
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis. 4
23385296 2013
17
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene. 4
23707712 2013
18
Systemic ceramide accumulation leads to severe and varied pathological consequences. 4
23681708 2013
19
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. 4
22703880 2012
20
A novel mutation in an atypical presentation of the rare infantile Farber disease. 4
21982811 2012
21
Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system. 4
21893389 2012
22
Autologous transplantation of lentivector/acid ceramidase-transduced hematopoietic cells in nonhuman primates. 4
21280983 2011
23
In vivo delivery of human acid ceramidase via cord blood transplantation and direct injection of lentivirus as novel treatment approaches for Farber disease. 4
18805722 2008
24
Autoproteolytic cleavage and activation of human acid ceramidase. 4
18281275 2008
25
Farber disease: clinical presentation, pathogenesis and a new approach to treatment. 4
17603888 2007
26
Molecular analysis of acid ceramidase deficiency in patients with Farber disease. 4
11241842 2001
27
Bone marrow transplantation for infantile ceramidase deficiency (Farber disease). 4
10967581 2000
28
The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. 4
10610716 1999
29
First case of surgical treatment of Farber's disease. 4
9339283 1997
30
Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. 4
9128814 1997
31
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. 4
8955159 1996
32
Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells. 4
8747852 1995
33
Farber disease with prolonged survival. 4
8295420 1993
34
An autopsy case of Farber's lipogranulomatosis in a Japanese boy with gastrointestinal involvement. 4
1557987 1992
35
Farber's disease (lysosomal acid ceramidase deficiency). 4
3662645 1987
36
Farber disease: pathologic diagnosis in sibs with phenotypic variability. 4
3130860 1987
37
Farber lipogranulomatosis: an unusual presentation in a black child. 4
2854742 1986
38
Clinical diagnosis of a new case of ceramidase deficiency (Farber's disease). 4
3921761 1985
39
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. 4
3987715 1985
40
Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives. 4
7441940 1980
41
Subtle clues to diagnosis of skin diseases by electron microscopy. "Farber bodies" in disseminated lipogranulomatosis (Farber's disease). 4
7246981 1980
42
Ceramides in a patient with lipogranulomatosis (Farber's disease) with chronic course. 4
5109101 1971
43
Retinopathy in a case of Farber's lipogranulomatosis. 4
5936802 1966
44
Farber's disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material. 4
13859108 1962
45
A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease. 4
12975849 1952
46
ASAH1-Related Disorders 38
29595935 2018

Variations for Asah1-Related Disorders

Expression for Asah1-Related Disorders

Search GEO for disease gene expression data for Asah1-Related Disorders.

Pathways for Asah1-Related Disorders

GO Terms for Asah1-Related Disorders

Sources for Asah1-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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