Salla disease

General Information (adopted from Orphanet):

Synonyms, Signs: SIALURIA, FINNISH TYPE
SD
Number of Symptoms 23
OrphanetNr: 309334
OMIM Id: 604369
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Free sialic acid storage disease
 -Rare bone disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002684) Thickened calvaria 32 / 7739
2
 (HPO:0000577) Exotropia 43 / 7739
3
 (HPO:0000639) Nystagmus 555 / 7739
4
 (HPO:0002540) Inability to walk 19 / 7739
5
 (HPO:0002305) Athetosis 31 / 7739
6
 (HPO:0001257) Spasticity 251 / 7739
7
 (HPO:0000750) Delayed speech and language development 197 / 7739
8
 (HPO:0001260) Dysarthria 329 / 7739
9
 (HPO:0001251) Ataxia 413 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0001250) Seizures 1245 / 7739
13
 (HPO:0001510) Growth delay 295 / 7739
14
 (HPO:0001922) Vacuolated lymphocytes 13 / 7739
15
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
16
 (HPO:0010547) Muscle flaccidity 466 / 7739
17
 (HPO:0001324) Muscle weakness 859 / 7739
18
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
19
 (HPO:0001252) Muscular hypotonia 990 / 7739
20
 (OMIM) Height 2 S.D. below expected height 1 / 7739
21
 (OMIM) Increased urinary free sialic acid excretion (N-acetylneuraminic acid, 5-20x normal) Enlarged lysosomal vacuoles in lymphocytes and fibroblasts 1 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (MedDRA:10013976) Dyspraxia 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ...
Diagnosis OMIM - Prenatal Diagnosis

Renlund and Aula (1987) reported successful prenatal identification of Salla disease on the basis of free sialic acid and free/total sialic acid ratio in amniocytes.
Clinical Description OMIM Salla disease is an adult form of sialuria, also called sialic acid storage disease, that has been found particularly in residents of an area of Finland. In a northeastern part of Finland, Aula et al. (1979) observed Salla ...
Molecular genetics OMIM Verheijen et al. (1999) used a positional candidate gene approach to identify a gene, SLC17A5, encoding a protein, sialin, with a predicted transport function that belongs to a family of anion/cation symporters (ACS). They found a homozygous SLC17A5 ...