SMAPME
MCID: SPN252
MIFTS: 45

Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMAPME)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

MalaCards integrated aliases for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

Name: Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 57 12 74 20 43 73 13 15
Jankovic-Rivera Syndrome 12 74 20 43 58
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome 20 58 29 6
Sma-Pme 12 20 43 58
Smapme 57 12 43 73
Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome 12 20 58
Hereditary Myoclonus with Progressive Distal Muscular Atrophy 43 73
Jankovic Rivera Syndrome 44 71
Myoclonus, Hereditary, with Progressive Distal Muscular Atrophy 57
Atrophy, Muscular, Spinal, with Progressive Myoclonic Epilepsy 39
Myoclonus Hereditary Progressive Distal Muscular Atrophy 20

Characteristics:

Orphanet epidemiological data:

58
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of muscle weakness around age 5 years
onset of seizures around 7 to 12 years
seizures are sensitive to hyperventilation


HPO:

31
spinal muscular atrophy with progressive myoclonic epilepsy:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

MedlinePlus Genetics : 43 Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy).In individuals with SMA-PME, spinal muscular atrophy results from a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). After a few years of normal development, affected children begin experiencing muscle weakness and atrophy in the lower limbs, causing difficulty walking and frequent falls. The muscles in the upper limbs are later affected, and soon the muscle weakness and atrophy spreads throughout the body. Once weakness reaches the muscles used for breathing and swallowing, it leads to life-threatening breathing problems and increased susceptibility to pneumonia.A few years after the muscle weakness begins, affected individuals start to experience recurrent seizures (epilepsy). Most people with SMA-PME have a variety of seizure types. In addition to myoclonic epilepsy, they may have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Affected individuals can also have absence seizures, which cause loss of consciousness for a short period that may or may not be accompanied by muscle jerks. In SMA-PME, seizures often increase in frequency over time and are usually not well-controlled with medication. Individuals with SMA-PME may also have episodes of rhythmic shaking (tremors), usually in the hands; these tremors are not thought to be related to epilepsy.Some people with SMA-PME develop hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss).Individuals with SMA-PME have a shortened lifespan; they generally live into late childhood or early adulthood. The cause of death is often respiratory failure or pneumonia.

MalaCards based summary : Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy, also known as jankovic-rivera syndrome, is related to spinal muscular atrophy and lipogranulomatosis, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. Affiliated tissues include spinal cord and tongue, and related phenotypes are abnormal enzyme/coenzyme activity and lower limb muscle weakness

Disease Ontology : 12 A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has material basis in homozygous or compound heterozygous mutation in ASAH1 on chromosome 8p22.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2590DefinitionSpinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.Visit the Orphanet disease page for more resources.

OMIM® : 57 Spinal muscular atrophy with progressive myoclonic epilepsy is an autosomal recessive neuromuscular disorder characterized by childhood onset of proximal muscle weakness and generalized muscular atrophy due to degeneration of spinal motor neurons, followed by the onset of myoclonic seizures. The disorder is progressive, and usually results in loss of ambulation and early death from respiratory insufficiency (summary by Zhou et al., 2012). (159950) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Spinal muscular atrophy with progressive myoclonic epilepsy: An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency.

Wikipedia : 74 Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic-Rivera... more...

Related Diseases for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Diseases related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 31.7 SMN2 SMN1 KDSR ASAH1
2 lipogranulomatosis 30.8 ASAH2 ASAH1
3 muscular atrophy 30.6 SMN2 SMN1 KDSR ASAH1
4 farber lipogranulomatosis 29.2 SMPD1 RBM14-RBM4 GALC CERS1 ASAH2 ASAH1
5 myoclonic epilepsy of unverricht and lundborg 10.8
6 early myoclonic encephalopathy 10.8
7 epilepsy 10.7
8 motor neuron disease 10.6
9 asah1-related disorders 10.6
10 tremor 10.6
11 sensorineural hearing loss 10.4
12 status epilepticus 10.3
13 lysosomal storage disease 10.3
14 hypotonia 10.3
15 ehlers-danlos syndrome, spondylodysplastic type, 2 10.2 B4GALT6 B3GALT4
16 spinal muscular atrophy type 0 10.2 SMN2 SMN1
17 spinal muscular atrophy, x-linked 2 10.2 SMN2 SMN1
18 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.1 SMN2 SMN1
19 autosomal recessive distal hereditary motor neuronopathy 10.1 SMN2 SMN1
20 chronic inflammatory demyelinating polyneuritis 10.1 SMN2 SMN1
21 anterior horn cell disease 10.1 SMN2 SMN1
22 proximal spinal muscular atrophy 10.1 SMN2 SMN1
23 spinal muscular atrophy, distal, autosomal recessive, 4 10.1 SMN2 SMN1
24 spinal muscular atrophy, distal, autosomal recessive, 1 10.1 SMN2 SMN1
25 dubowitz syndrome 10.1 SMN2 SMN1
26 progressive muscular atrophy 10.1 SMN2 SMN1
27 childhood spinal muscular atrophy 10.0 SMN2 SMN1
28 gm2 gangliosidosis 9.9 SMPD1 SMN1 ASAH1
29 spinal muscular atrophy, type iv 9.9 SMN2 SMN1
30 gm1-gangliosidosis, type i 9.9 SMPD1 GALC
31 krabbe disease 9.9 SMPD1 GALC ASAH1
32 lipid storage disease 9.9 SMPD1 GALC ASAH1
33 spherocytosis, type 1 9.9 KDSR ASAH1
34 metachromatic leukodystrophy 9.9 SMPD1 GALC ASAH1
35 neuropathy, hereditary sensory and autonomic, type iii 9.8 SMN2 SMN1
36 aggressive systemic mastocytosis 9.8 SMPD1 CERS1 ASAH2 ASAH1
37 tay-sachs disease 9.8 SMPD1 SMN2 SMN1 ASAH1
38 sphingolipidosis 9.7 SMPD1 GALC ASAH2 ASAH1
39 niemann-pick disease 9.7 SMPD1 GALC ASAH2 ASAH1
40 gaucher's disease 9.7 SMPD1 GALC ASAH2 ASAH1
41 gaucher disease, type i 9.7 SMPD1 GALC ASAH1
42 nephrotic syndrome, type 14 9.3 SMPD1 KDSR GALC ASAH1 ACER3

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:



Diseases related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Symptoms & Phenotypes for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Human phenotypes related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal enzyme/coenzyme activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012379
2 lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007340
3 abnormal lower motor neuron morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002366
4 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
5 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
6 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
7 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
8 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
9 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
10 recurrent aspiration pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0002100
11 atonic seizure 58 31 frequent (33%) Frequent (79-30%) HP:0010819
12 typical absence seizure 58 31 frequent (33%) Frequent (79-30%) HP:0011147
13 generalized myoclonic seizure 31 frequent (33%) HP:0002123
14 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
15 waddling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002515
16 mental deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001268
17 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
18 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
19 high-frequency sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0001757
20 limb myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0045084
21 eyelid myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0025097
22 myoclonic status epilepticus 58 31 occasional (7.5%) Occasional (29-5%) HP:0032667
23 bilateral tonic-clonic seizure with generalized onset 31 occasional (7.5%) HP:0025190
24 intellectual disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001249
25 dysphagia 58 31 very rare (1%) Very rare (<4-1%) HP:0002015
26 myoclonus 58 31 Very frequent (99-80%) HP:0001336
27 seizures 58 Obligate (100%)
28 facial palsy 31 HP:0010628
29 recurrent respiratory infections 31 HP:0002205
30 sensorineural hearing impairment 58 Occasional (29-5%)
31 flexion contracture 58 Excluded (0%)
32 generalized myoclonic seizures 58 Frequent (79-30%)
33 areflexia 31 HP:0001284
34 hoarse voice 58 Excluded (0%)
35 dementia 31 HP:0000726
36 generalized tonic-clonic seizures without focal onset 58 Occasional (29-5%)
37 hepatosplenomegaly 58 Excluded (0%)
38 functional motor deficit 58 Very frequent (99-80%)
39 oral-pharyngeal dysphagia 31 HP:0200136
40 skin nodule 58 Excluded (0%)
41 degeneration of anterior horn cells 31 HP:0002398
42 gowers sign 31 HP:0003391
43 tongue fasciculations 31 HP:0001308
44 spinal muscular atrophy 31 HP:0007269
45 progressive distal muscular atrophy 31 HP:0008955

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
tremor
frequent falls
difficulty walking
myoclonic seizures
more
Respiratory:
recurrent respiratory infections
respiratory insufficiency due to muscle weakness

Muscle Soft Tissue:
fasciculations
gowers sign
muscle atrophy
muscle weakness, proximal
emg shows chronic denervation
more
Head And Neck Face:
facial weakness

Laboratory Abnormalities:
normal serum creatine kinase

Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Mouth:
tongue fasciculations

Abdomen Gastrointestinal:
difficulty swallowing

Clinical features from OMIM®:

159950 (Updated 05-Mar-2021)

UMLS symptoms related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:


seizures, tremor, myoclonus, muscular fasciculation, myoclonic seizures, facial paresis

Drugs & Therapeutics for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Cochrane evidence based reviews: jankovic rivera syndrome

Genetic Tests for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Genetic tests related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome 29 ASAH1

Anatomical Context for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

MalaCards organs/tissues related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

40
Spinal Cord, Tongue

Publications for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Articles related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

(show all 16)
# Title Authors PMID Year
1
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. 57 6 61
24164096 2014
2
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. 57 6
22703880 2012
3
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature. 61 57
12571787 2002
4
Hereditary myoclonus and progressive distal muscular atrophy. 57
534421 1979
5
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. 61
32449975 2020
6
Zebrafish acid ceramidase: Expression in Pichia pastoris GS115and biochemical characterization. 61
30399382 2019
7
A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran. 61
31213928 2019
8
A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran [Corrigendum]. 61
31372065 2019
9
Acid ceramidase deficiency: Farber disease and SMA-PME. 61
30029679 2018
10
Structural basis for the activation of acid ceramidase. 61
29692406 2018
11
ASAH1-Related Disorders 61
29595935 2018
12
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. 61
29169047 2018
13
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. 61
28251733 2017
14
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation. 61
27723502 2016
15
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. 61
26526000 2015
16
Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1. 61
25578555 2015

Variations for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

ClinVar genetic disease variations for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASAH1 NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile) SNV Pathogenic 812480 rs1588978873 8:17919918-17919918 8:18062409-18062409
2 ASAH1 NM_177924.5(ASAH1):c.594_599dup (p.Lys200_Ala201insAsnPhe) Duplication Pathogenic 812481 rs1588978684 8:17919836-17919837 8:18062327-18062328
3 ASAH1 NM_177924.5(ASAH1):c.125+1G>A SNV Pathogenic 662497 rs1588999312 8:17933049-17933049 8:18075540-18075540
4 ASAH1 NM_177924.5(ASAH1):c.77C>G (p.Pro26Arg) SNV Pathogenic 812482 rs886039750 8:17941491-17941491 8:18083982-18083982
5 ASAH1 NM_177924.5(ASAH1):c.223_224insC (p.Val75fs) Insertion Pathogenic 812500 rs1588990194 8:17927380-17927381 8:18069871-18069872
6 ASAH1 NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter) SNV Pathogenic 812508 rs771847002 8:17917112-17917112 8:18059603-18059603
7 ASAH1 NC_000008.11:g.(?_18051554)_(18107050_?)del Deletion Pathogenic 35545 8:17909063-17964559 8:18051554-18107050
8 ASAH1 NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter) SNV Pathogenic 180642 rs794729663 8:17917148-17917148 8:18059639-18059639
9 ASAH1 NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn) SNV Pathogenic 180643 rs200455852 8:17921967-17921967 8:18064458-18064458
10 ASAH1 NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) SNV Pathogenic 375548 rs371666412 8:17922013-17922013 8:18064504-18064504
11 ASAH1 NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter) SNV Likely pathogenic 812470 rs766395283 8:17928848-17928848 8:18071339-18071339
12 ASAH1 NM_177924.5(ASAH1):c.118G>C (p.Gly40Arg) SNV Likely pathogenic 873542 8:17933057-17933057 8:18075548-18075548
13 ASAH1 NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) SNV Likely pathogenic 35544 rs145873635 8:17933050-17933050 8:18075541-18075541
14 ASAH1 NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile) SNV Conflicting interpretations of pathogenicity 560956 rs766257867 8:17919900-17919900 8:18062391-18062391
15 ASAH1 NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala) SNV Uncertain significance 560955 rs779888892 8:17933051-17933051 8:18075542-18075542
16 ASAH1 NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) SNV not provided 362377 rs150268016 8:17919816-17919816 8:18062307-18062307

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

73
# Symbol AA change Variation ID SNP ID
1 ASAH1 p.Thr42Met VAR_068722 rs145873635
2 ASAH1 p.Lys152Asn VAR_072247 rs200455852

Expression for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Search GEO for disease gene expression data for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy.

Pathways for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Pathways related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 SMPD1 KDSR GALC CERS1 B4GALT6 B3GALT4
2
Show member pathways
11.73 SMPD1 KDSR GALC CERS1 B4GALT6 ASAH2
3 11.71 SMPD1 CERS1 ASAH2 ASAH1 ACER2 ACER1
4 11.65 SMPD1 GALC ASAH1
5 11.54 SMPD1 ASAH2 ASAH1 ACER1
6 10.21 ASAH2 ASAH1 ACER2 ACER1

GO Terms for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Cellular components related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.65 B4GALT6 B3GALT4 ASAH2 ACER3 ACER2
2 lysosomal lumen GO:0043202 9.33 SMPD1 GALC ASAH1
3 SMN-Sm protein complex GO:0034719 9.32 SMN2 SMN1
4 Gemini of coiled bodies GO:0097504 8.96 SMN2 SMN1
5 SMN complex GO:0032797 8.62 SMN2 SMN1

Biological processes related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.97 KDSR GALC CERS1 B4GALT6 ASAH2 ASAH1
2 sphingolipid biosynthetic process GO:0030148 9.77 KDSR CERS1 ACER3 ACER2 ACER1
3 ceramide biosynthetic process GO:0046513 9.71 SMPD1 CERS1 ASAH2 ASAH1
4 ceramide metabolic process GO:0006672 9.65 SMPD1 ASAH2 ACER3 ACER2 ACER1
5 glycosphingolipid metabolic process GO:0006687 9.61 SMPD1 GALC ASAH1
6 sphingosine biosynthetic process GO:0046512 9.55 ASAH2 ASAH1 ACER3 ACER2 ACER1
7 spliceosomal snRNP assembly GO:0000387 9.51 SMN2 SMN1
8 spliceosomal complex assembly GO:0000245 9.49 SMN2 SMN1
9 import into nucleus GO:0051170 9.48 SMN2 SMN1
10 DNA-templated transcription, termination GO:0006353 9.46 SMN2 SMN1
11 ceramide catabolic process GO:0046514 9.35 ASAH2 ASAH1 ACER3 ACER2 ACER1
12 sphingolipid metabolic process GO:0006665 9.28 KDSR GALC CERS1 B4GALT6 ASAH2 ASAH1

Molecular functions related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.91 SMPD1 GALC ASAH2 ASAH1 ACER3 ACER2
2 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 9.56 ASAH1 ACER3 ACER2 ACER1
3 dihydroceramidase activity GO:0071633 9.46 ASAH2 ACER3 ACER2 ACER1
4 N-acylsphingosine amidohydrolase activity GO:0017040 9.35 ASAH2 ASAH1 ACER3 ACER2 ACER1
5 phytoceramidase activity GO:0070774 9.32 ASAH2 ACER3
6 ceramidase activity GO:0102121 9.02 ASAH2 ASAH1 ACER3 ACER2 ACER1

Sources for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

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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