MCID: JNK001
MIFTS: 15

Jankovic Rivera Syndrome

Categories: Muscle diseases, Rare diseases

Aliases & Classifications for Jankovic Rivera Syndrome

MalaCards integrated aliases for Jankovic Rivera Syndrome:

Name: Jankovic Rivera Syndrome 53 29 6 72
Hereditary Myoclonus and Progressive Distal Muscular Atrophy 53

Classifications:



External Ids:

UMLS 72 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 muscular atrophy, and has symptoms including seizures, tremor and myoclonus. 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 12.3
2 muscular atrophy 10.2
3 myoclonus 10.2

Symptoms & Phenotypes for Jankovic Rivera Syndrome

UMLS symptoms related to Jankovic Rivera Syndrome:


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

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

Articles related to Jankovic Rivera Syndrome:

# Title Authors PMID Year
1
Hereditary myoclonus and progressive distal muscular atrophy. 38
534421 1979

Variations for Jankovic Rivera Syndrome

ClinVar genetic disease variations for Jankovic Rivera Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ASAH1 NC_000008.10: g.(?_17909063)_(17964559_?)del deletion Pathogenic 8:17909063-17964559 8:18051554-18107050
2 ASAH1 NM_004315.6(ASAH1): c.898G> T (p.Gly300Ter) single nucleotide variant Pathogenic rs794729663 8:17917148-17917148 8:18059639-18059639
3 ASAH1 NM_004315.6(ASAH1): c.173C> T (p.Thr58Met) single nucleotide variant Pathogenic/Likely pathogenic rs145873635 8:17933050-17933050 8:18075541-18075541
4 ASAH1 NM_004315.6(ASAH1): c.504A> C (p.Lys168Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200455852 8:17921967-17921967 8:18064458-18064458
5 ASAH1 NM_004315.6(ASAH1): c.668A> T (p.Tyr223Phe) single nucleotide variant Uncertain significance rs150268016 8:17919816-17919816 8:18062307-18062307
6 ASAH1 NM_004315.6(ASAH1): c.458A> G (p.Tyr153Cys) single nucleotide variant Uncertain significance rs371666412 8:17922013-17922013 8:18064504-18064504
7 ASAH1 NM_004315.6(ASAH1): c.584C> T (p.Thr195Ile) single nucleotide variant Uncertain significance 8:17919900-17919900 8:18062391-18062391
8 ASAH1 NM_004315.6(ASAH1): c.172A> G (p.Thr58Ala) single nucleotide variant Uncertain significance 8:17933051-17933051 8:18075542-18075542

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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