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Intermediate severe Salla disease

MedGen UID:
1843217
•Concept ID:
C5681076
•
Disease or Syndrome
Synonyms: Intermediate Salla disease; intermediate severe Salla disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017737
Orphanet: ORPHA309331

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Månsson JE, Aula P, Peltonen L
Am J Hum Genet 2000 Oct;67(4):832-40. Epub 2000 Aug 17 doi: 10.1086/303077. PMID: 10947946Free PMC Article

Recent clinical studies

Diagnosis

A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
Barmherzig R, Bullivant G, Cordeiro D, Sinasac DS, Blaser S, Mercimek-Mahmutoglu S
Pediatr Neurol 2017 Sep;74:87-91.e2. Epub 2017 Jun 1 doi: 10.1016/j.pediatrneurol.2017.05.022. PMID: 28662915
Salla disease in Turkish children: severe and conventional type.
Coker M, Kalkan-Uçar S, Kitiş O, Uçar H, Gökşen-Simşek D, Darcan S, Gökben S
Turk J Pediatr 2009 Nov-Dec;51(6):605-9. PMID: 20196397
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA
Am J Med Genet A 2003 Jul 1;120A(1):28-33. doi: 10.1002/ajmg.a.20024. PMID: 12794688

Prognosis

Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
Chapleau A, Mirchi A, Tran LT, Poulin C, Bernard G
Pediatr Neurol 2023 Nov;148:133-137. Epub 2023 Aug 19 doi: 10.1016/j.pediatrneurol.2023.08.013. PMID: 37713976
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA
Am J Med Genet A 2003 Jul 1;120A(1):28-33. doi: 10.1002/ajmg.a.20024. PMID: 12794688

Clinical prediction guides

Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
Chapleau A, Mirchi A, Tran LT, Poulin C, Bernard G
Pediatr Neurol 2023 Nov;148:133-137. Epub 2023 Aug 19 doi: 10.1016/j.pediatrneurol.2023.08.013. PMID: 37713976
Salla disease in Turkish children: severe and conventional type.
Coker M, Kalkan-Uçar S, Kitiş O, Uçar H, Gökşen-Simşek D, Darcan S, Gökben S
Turk J Pediatr 2009 Nov-Dec;51(6):605-9. PMID: 20196397
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA
Am J Med Genet A 2003 Jul 1;120A(1):28-33. doi: 10.1002/ajmg.a.20024. PMID: 12794688

Supplemental Content

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