MCID: JNK001
MIFTS: 10

Jankovic Rivera Syndrome

Categories: Rare diseases, Muscle diseases

Aliases & Classifications for Jankovic Rivera Syndrome

MalaCards integrated aliases for Jankovic Rivera Syndrome:

Name: Jankovic Rivera Syndrome 53 29 6 73
Hereditary Myoclonus and Progressive Distal Muscular Atrophy 53

Classifications:



External Ids:

UMLS 73 C1834569

Summaries for Jankovic Rivera Syndrome

MalaCards based summary : Jankovic Rivera Syndrome, also known as hereditary myoclonus and progressive distal muscular atrophy, is related to spinal muscular atrophy with progressive myoclonic epilepsy, and has symptoms including muscular fasciculation, myoclonus and seizures. An important gene associated with Jankovic Rivera Syndrome is ASAH1 (N-Acylsphingosine Amidohydrolase 1).

Related Diseases for Jankovic Rivera Syndrome

Diseases related to Jankovic Rivera Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy with progressive myoclonic epilepsy 12.0

Symptoms & Phenotypes for Jankovic Rivera Syndrome

UMLS symptoms related to Jankovic Rivera Syndrome:


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

Drugs & Therapeutics for Jankovic Rivera Syndrome

Search Clinical Trials , NIH Clinical Center for Jankovic Rivera Syndrome

Genetic Tests for Jankovic Rivera Syndrome

Genetic tests related to Jankovic Rivera Syndrome:

# Genetic test Affiliating Genes
1 Jankovic Rivera Syndrome 29 ASAH1

Anatomical Context for Jankovic Rivera Syndrome

Publications for Jankovic Rivera Syndrome

Variations for Jankovic Rivera Syndrome

ClinVar genetic disease variations for Jankovic Rivera Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ASAH1 NM_177924.4(ASAH1): c.125C> T (p.Thr42Met) single nucleotide variant Pathogenic/Likely pathogenic rs145873635 GRCh37 Chromosome 8, 17933050: 17933050
2 ASAH1 NM_177924.4(ASAH1): c.125C> T (p.Thr42Met) single nucleotide variant Pathogenic/Likely pathogenic rs145873635 GRCh38 Chromosome 8, 18075541: 18075541
3 ASAH1 NC_000008.11: g.(?_18051554)_(18107050_?)del deletion Pathogenic GRCh37 Chromosome 8, 17909063: 17964559
4 ASAH1 NC_000008.11: g.(?_18051554)_(18107050_?)del deletion Pathogenic GRCh38 Chromosome 8, 18051554: 18107050
5 ASAH1 NM_004315.5(ASAH1): c.898G> T (p.Gly300Ter) single nucleotide variant Pathogenic rs794729663 GRCh37 Chromosome 8, 17917148: 17917148
6 ASAH1 NM_004315.5(ASAH1): c.898G> T (p.Gly300Ter) single nucleotide variant Pathogenic rs794729663 GRCh38 Chromosome 8, 18059639: 18059639
7 ASAH1 NM_004315.5(ASAH1): c.504A> C (p.Lys168Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200455852 GRCh37 Chromosome 8, 17921967: 17921967
8 ASAH1 NM_004315.5(ASAH1): c.504A> C (p.Lys168Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200455852 GRCh38 Chromosome 8, 18064458: 18064458
9 ASAH1 NM_004315.5(ASAH1): c.458A> G (p.Tyr153Cys) single nucleotide variant Uncertain significance rs371666412 GRCh38 Chromosome 8, 18064504: 18064504
10 ASAH1 NM_004315.5(ASAH1): c.458A> G (p.Tyr153Cys) single nucleotide variant Uncertain significance rs371666412 GRCh37 Chromosome 8, 17922013: 17922013

Expression for Jankovic Rivera Syndrome

Search GEO for disease gene expression data for Jankovic Rivera Syndrome.

Pathways for Jankovic Rivera Syndrome

GO Terms for Jankovic Rivera Syndrome

Sources for Jankovic Rivera Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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