SD
MCID: SLL003
MIFTS: 45

Salla Disease (SD)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Salla Disease

MalaCards integrated aliases for Salla Disease:

Name: Salla Disease 57 73 20 58 72 29 13 6 39
Sd 57 72 17
Sialuria, Finnish Type 57 20
Sialic Acid Storage Disease, Finnish Type 70
Finnish Type Sialuria 72

Characteristics:

Orphanet epidemiological data:

58
salla disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/100000 (Sweden); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM®:

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

Miscellaneous:
increased frequency in finland
allelic to infantile sialic acid storage disorder
normal in neonatal period
onset at 6-9 months


HPO:

31
salla disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Salla Disease

OMIM® : 57 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 ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999). (604369) (Updated 05-Apr-2021)

MalaCards based summary : Salla Disease, also known as sd, is related to mucolipidosis and mucopolysaccharidosis-plus syndrome, and has symptoms including seizures, ataxia and athetosis. An important gene associated with Salla Disease is SLC17A5 (Solute Carrier Family 17 Member 5), and among its related pathways/superpathways are Tuberculosis and Phagosome. Affiliated tissues include brain, and related phenotypes are intellectual disability and spasticity

UniProtKB/Swiss-Prot : 72 Salla disease: Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow.

Wikipedia : 73 Salla disease (SD), is an autosomal recessive lysosomal storage disease characterized by early physical... more...

Related Diseases for Salla Disease

Diseases in the Salla Disease family:

Intermediate Severe Salla Disease

Diseases related to Salla Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 mucolipidosis 29.7 LAMP2 LAMP1
2 mucopolysaccharidosis-plus syndrome 29.4 LAMP2 LAMP1
3 free sialic acid storage disorders 11.6
4 intermediate severe salla disease 11.4
5 sialuria 11.2
6 infantile sialic acid storage disease 11.1
7 neuraminidase deficiency 11.0
8 hypotonia 10.3
9 spasticity 10.3
10 ataxia and polyneuropathy, adult-onset 10.3
11 lysosomal storage disease 10.3
12 cystinosis 10.2
13 dysostosis 10.2
14 infantile free sialic acid storage disease 10.2
15 aspartylglucosaminuria 10.1
16 alacrima, achalasia, and mental retardation syndrome 10.1
17 dystonia 10.1
18 lysosomal storage disease with skeletal involvement 10.1
19 3-methylglutaconic aciduria, type iii 9.9
20 alpha-1-antitrypsin deficiency 9.9
21 dyskinetic cerebral palsy 9.9
22 autosomal recessive disease 9.9
23 leukodystrophy 9.9
24 fanconi syndrome 9.9
25 alternating exotropia 9.9
26 exotropia 9.9
27 polyneuropathy 9.9
28 cerebral palsy 9.9
29 glycoproteinosis 9.9
30 agnosia 9.9
31 demyelinating polyneuropathy 9.9
32 learning disability 9.9
33 pathologic nystagmus 9.9
34 pulmonary emphysema 9.9
35 athetosis 9.9
36 encephalopathy 9.9
37 posttransplant acute limbic encephalitis 9.9
38 disorder of sialic acid metabolism 9.9
39 disorder of lysosomal amino acid transport 9.9
40 lysosomal glycogen storage disease 9.9 SLC17A5 LAMP2
41 phosphatase, acid, of tissues 9.8 LAMP2 LAMP1
42 mucopolysaccharidosis, type iiib 9.8 LAMP2 LAMP1
43 danon disease 9.8 LAMP2 LAMP1
44 mucolipidosis ii alpha/beta 9.8 LAMP2 LAMP1
45 c syndrome 9.8 LAMP2 LAMP1
46 mucopolysaccharidosis, type iiia 9.7 LAMP2 LAMP1
47 sphingolipidosis 9.7 LAMP2 LAMP1
48 niemann-pick disease, type c1 9.7 LAMP2 LAMP1
49 mucopolysaccharidosis iii 9.7 LAMP2 LAMP1
50 fabry disease 9.6 LAMP2 LAMP1

Graphical network of the top 20 diseases related to Salla Disease:



Diseases related to Salla Disease

Symptoms & Phenotypes for Salla Disease

Human phenotypes related to Salla Disease:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 spasticity 31 HP:0001257
3 nystagmus 31 HP:0000639
4 ataxia 31 HP:0001251
5 dysarthria 31 HP:0001260
6 global developmental delay 31 HP:0001263
7 delayed speech and language development 31 HP:0000750
8 thickened calvaria 31 HP:0002684
9 growth delay 31 HP:0001510
10 abnormality of metabolism/homeostasis 31 HP:0001939
11 athetosis 31 HP:0002305
12 generalized hypotonia 31 HP:0001290
13 inability to walk 31 HP:0002540
14 exotropia 31 HP:0000577
15 vacuolated lymphocytes 31 HP:0001922
16 seizure 31 HP:0001250
17 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
spasticity
ataxia
dysarthria
athetosis
more
Growth Other:
growth retardation

Growth Height:
height 2 s.d. below expected height

Head And Neck Eyes:
nystagmus
exotropia

Skeletal Skull:
thick calvaria

Laboratory Abnormalities:
increased urinary free sialic acid excretion (n-acetylneuraminic acid, 5-20x normal) enlarged lysosomal vacuoles in lymphocytes and fibroblasts

Clinical features from OMIM®:

604369 (Updated 05-Apr-2021)

UMLS symptoms related to Salla Disease:


seizures; ataxia; athetosis; muscle spasticity

GenomeRNAi Phenotypes related to Salla Disease according to GeneCards Suite gene sharing:

26 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.99 LAMP1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.99 LAMP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.99 LAMP2 SLC17A5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.99 LAMP2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.99 SLC17A5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.99 LAMP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.99 LAMP2 SLC17A5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.99 SLC17A5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.99 SLC17A5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.99 SLC17A5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.99 LAMP2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.99 LAMP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.99 LAMP2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.99 LAMP2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.99 SLC17A5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.99 LAMP1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.99 LAMP2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.99 LAMP2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.99 LAMP1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.99 LAMP2 LAMP1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.99 SLC17A5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.99 LAMP2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.99 LAMP2 SLC17A5
24 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.99 LAMP1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.99 LAMP2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.99 LAMP2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.99 LAMP1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.99 SLC17A5
29 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.99 LAMP2
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.35 SLC17A5
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 9.35 LAMP2
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.35 LAMP2
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-140 9.35 LAMP2
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.35 LAMP2

Drugs & Therapeutics for Salla Disease

Search Clinical Trials , NIH Clinical Center for Salla Disease

Genetic Tests for Salla Disease

Genetic tests related to Salla Disease:

# Genetic test Affiliating Genes
1 Salla Disease 29 SLC17A5

Anatomical Context for Salla Disease

MalaCards organs/tissues related to Salla Disease:

40
Brain

Publications for Salla Disease

Articles related to Salla Disease:

(show top 50) (show all 125)
# Title Authors PMID Year
1
Identification of a vesicular aspartate transporter. 61 6 57
18695252 2008
2
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. 61 57 6
10581036 1999
3
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease. 6 61
28662915 2017
4
The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings. 6 61
24993898 2014
5
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation. 61 6
23900835 2014
6
Functional characterization of vesicular excitatory amino acid transport by human sialin. 61 6
21781115 2011
7
Prenatal diagnosis of free sialic acid storage disorders (SASD). 6 61
16715535 2006
8
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. 61 6
16170568 2005
9
Varied mechanisms underlie the free sialic acid storage disorders. 6 61
15516337 2005
10
Functional characterization of wild-type and mutant human sialin. 61 6
15510212 2004
11
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. 61 6
15172001 2004
12
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. 6 61
12794687 2003
13
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. 6 61
12794688 2003
14
A case of Salla disease with involvement of the cerebellar white matter. 61 6
12592494 2003
15
Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin. 61 6
12359136 2002
16
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. 6 61
12121352 2002
17
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. 61 6
11992753 2002
18
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. 61 6
10947946 2000
19
A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect. 57 61
8921371 1996
20
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. 57 61
7573051 1995
21
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. 57 61
7557994 1995
22
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. 57 61
7885532 1994
23
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. 61 57
8198127 1994
24
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program. 57 61
1733832 1992
25
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. 61 57
1959930 1991
26
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. 61 57
2363700 1990
27
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. 57 61
3425617 1987
28
Salla disease in one non-Finnish patient. 57 61
3770005 1986
29
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts. 61 57
3944269 1986
30
Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease. 61 57
4010893 1985
31
N-Acetylneuraminic acid storage disease. 61 57
4043964 1985
32
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. 61 57
6681560 1983
33
"Salla disease": a new lysosomal storage disorder. 57 61
420628 1979
34
Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 6
27848944 2017
35
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
36
Abstracts of the SSIEM 2014 Annual Symposium, 2-5 September, 2014, Innsbruck, Austria. 6
25085675 2014
37
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 6
24767253 2014
38
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases. 6
20101035 2010
39
Free sialic acid storage disease without sialuria. 6
19557856 2009
40
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. 6
15805149 2005
41
Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland. 6
12709150 2003
42
Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features. 6
12637289 2003
43
Clinical spectrum of infantile free sialic acid storage disease. 6
10069709 1999
44
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. 57
2010546 1991
45
Sialic acid storage disease. 6
2334213 1990
46
Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane. 57
3733077 1986
47
Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues. 57
7057193 1982
48
Amino Acids Bearing Aromatic or Heteroaromatic Substituents as a New Class of Ligands for the Lysosomal Sialic Acid Transporter Sialin. 61
32608236 2020
49
Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family. 61
31694657 2019
50
First Patient With Salla Disease Confirmed by Genomic Analysis in Japan. 61
29472023 2018

Variations for Salla Disease

ClinVar genetic disease variations for Salla Disease:

6 (show top 50) (show all 150)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC17A5 NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs) Deletion Pathogenic 56551 rs386833987 GRCh37: 6:74325141-74325142
GRCh38: 6:73615418-73615419
2 SLC17A5 NM_012434.5(SLC17A5):c.526-2A>G SNV Pathogenic 555734 rs1554164096 GRCh37: 6:74348224-74348224
GRCh38: 6:73638501-73638501
3 SLC17A5 NM_012434.5(SLC17A5):c.221T>A (p.Leu74Ter) SNV Pathogenic 644884 rs1474077825 GRCh37: 6:74354200-74354200
GRCh38: 6:73644477-73644477
4 SLC17A5 NC_000006.12:g.(?_73641681)_(73644613_?)del Deletion Pathogenic 649623 GRCh37: 6:74351404-74354336
GRCh38: 6:73641681-73644613
5 SLC17A5 NC_000006.12:g.(?_73644397)_(73644613_?)del Deletion Pathogenic 832233 GRCh37: 6:74354120-74354336
GRCh38:
6 SLC17A5 NM_012434.5(SLC17A5):c.923T>G (p.Leu308Ter) SNV Pathogenic 841274 GRCh37: 6:74331582-74331582
GRCh38: 6:73621859-73621859
7 SLC17A5 NM_012434.5(SLC17A5):c.809T>A (p.Leu270Ter) SNV Pathogenic 973243 GRCh37: 6:74345115-74345115
GRCh38: 6:73635392-73635392
8 SLC17A5 NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) SNV Pathogenic 960642 GRCh37: 6:74346425-74346425
GRCh38: 6:73636702-73636702
9 SLC17A5 NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) SNV Pathogenic 5615 rs80338794 GRCh37: 6:74354306-74354306
GRCh38: 6:73644583-73644583
10 SLC17A5 NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) Deletion Pathogenic 56558 rs386833994 GRCh37: 6:74345108-74345122
GRCh38: 6:73635385-73635399
11 SLC17A5 NM_012434.5(SLC17A5):c.533del (p.Thr178fs) Deletion Pathogenic 167693 rs727504156 GRCh37: 6:74348215-74348215
GRCh38: 6:73638492-73638492
12 SLC17A5 NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) SNV Pathogenic 440272 rs201284672 GRCh37: 6:74331587-74331587
GRCh38: 6:73621864-73621864
13 SLC17A5 NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) SNV Pathogenic 440272 rs201284672 GRCh37: 6:74331587-74331587
GRCh38: 6:73621864-73621864
14 SLC17A5 NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) SNV Pathogenic 21493 rs80338795 GRCh37: 6:74351533-74351533
GRCh38: 6:73641810-73641810
15 SLC17A5 NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) SNV Pathogenic 5615 rs80338794 GRCh37: 6:74354306-74354306
GRCh38: 6:73644583-73644583
16 SLC17A5 NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) SNV Pathogenic/Likely pathogenic 370976 rs1057516910 GRCh37: 6:74325133-74325133
GRCh38: 6:73615410-73615410
17 SLC17A5 NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) SNV Pathogenic/Likely pathogenic 21493 rs80338795 GRCh37: 6:74351533-74351533
GRCh38: 6:73641810-73641810
18 SLC17A5 NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) Deletion Pathogenic/Likely pathogenic 56552 rs386833988 GRCh37: 6:74320243-74320244
GRCh38: 6:73610520-73610521
19 SLC17A5 NM_012434.5(SLC17A5):c.819+1G>A SNV Pathogenic/Likely pathogenic 371127 rs1057517028 GRCh37: 6:74345104-74345104
GRCh38: 6:73635381-73635381
20 SLC17A5 NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) SNV Pathogenic/Likely pathogenic 56557 rs386833993 GRCh37: 6:74345205-74345205
GRCh38: 6:73635482-73635482
21 SLC17A5 NM_012434.5(SLC17A5):c.409del (p.Met137fs) Deletion Pathogenic/Likely pathogenic 203395 rs794729653 GRCh37: 6:74351530-74351530
GRCh38: 6:73641807-73641807
22 SLC17A5 NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu) SNV Likely pathogenic 56553 rs386833989 GRCh37: 6:74320156-74320156
GRCh38: 6:73610433-73610433
23 SLC17A5 NM_012434.5(SLC17A5):c.309G>A (p.Trp103Ter) SNV Likely pathogenic 56555 rs386833991 GRCh37: 6:74351630-74351630
GRCh38: 6:73641907-73641907
24 SLC17A5 NM_012434.5(SLC17A5):c.95-1G>C SNV Likely pathogenic 56559 rs386833995 GRCh37: 6:74354327-74354327
GRCh38: 6:73644604-73644604
25 SLC17A5 NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu) SNV Likely pathogenic 56560 rs386833996 GRCh37: 6:74325166-74325166
GRCh38: 6:73615443-73615443
26 SLC17A5 NM_012434.5(SLC17A5):c.1121del (p.Gly374fs) Deletion Likely pathogenic 371242 rs1057517119 GRCh37: 6:74320261-74320261
GRCh38: 6:73610538-73610538
27 SLC17A5 NM_012434.5(SLC17A5):c.905del (p.Asn302fs) Deletion Likely pathogenic 370901 rs771156053 GRCh37: 6:74331600-74331600
GRCh38: 6:73621877-73621877
28 SLC17A5 NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs) Duplication Likely pathogenic 370442 rs772039085 GRCh37: 6:74351589-74351590
GRCh38: 6:73641866-73641867
29 SLC17A5 NM_012434.5(SLC17A5):c.215del (p.Thr72fs) Deletion Likely pathogenic 371435 rs1057517269 GRCh37: 6:74354206-74354206
GRCh38: 6:73644483-73644483
30 SLC17A5 NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter) SNV Likely pathogenic 370579 rs1057516601 GRCh37: 6:74331596-74331596
GRCh38: 6:73621873-73621873
31 SLC17A5 NM_012434.5(SLC17A5):c.384T>A (p.Tyr128Ter) SNV Likely pathogenic 370132 rs1057516257 GRCh37: 6:74351555-74351555
GRCh38: 6:73641832-73641832
32 SLC17A5 NM_012434.5(SLC17A5):c.693del (p.Phe233fs) Deletion Likely pathogenic 370912 rs1057516862 GRCh37: 6:74346351-74346351
GRCh38: 6:73636628-73636628
33 SLC17A5 NM_012434.5(SLC17A5):c.1127del (p.Ala376fs) Deletion Likely pathogenic 371232 rs1057517111 GRCh37: 6:74320255-74320255
GRCh38: 6:73610532-73610532
34 SLC17A5 NM_012434.5(SLC17A5):c.423del (p.Phe141fs) Deletion Likely pathogenic 370349 rs1057516419 GRCh37: 6:74351516-74351516
GRCh38: 6:73641793-73641793
35 SLC17A5 NM_012434.5(SLC17A5):c.215_216del (p.Thr72fs) Deletion Likely pathogenic 370460 rs1057516505 GRCh37: 6:74354205-74354206
GRCh38: 6:73644482-73644483
36 SLC17A5 NM_012434.5(SLC17A5):c.1350+1G>A SNV Likely pathogenic 371032 rs1057516951 GRCh37: 6:74310073-74310073
GRCh38: 6:73600350-73600350
37 SLC17A5 NM_012434.5(SLC17A5):c.204del (p.Asp69fs) Deletion Likely pathogenic 370514 rs1057516549 GRCh37: 6:74354217-74354217
GRCh38: 6:73644494-73644494
38 SLC17A5 NM_012434.5(SLC17A5):c.292-2A>C SNV Likely pathogenic 370491 rs1057516528 GRCh37: 6:74351649-74351649
GRCh38: 6:73641926-73641926
39 SLC17A5 NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) Duplication Likely pathogenic 558121 rs1472109408 GRCh37: 6:74346376-74346377
GRCh38: 6:73636653-73636654
40 SLC17A5 NM_012434.5(SLC17A5):c.1208del (p.Gly403fs) Deletion Likely pathogenic 558681 rs1554161865 GRCh37: 6:74320174-74320174
GRCh38: 6:73610451-73610451
41 SLC17A5 NM_012434.5(SLC17A5):c.718dup (p.Trp240fs) Duplication Likely pathogenic 556279 rs1554163878 GRCh37: 6:74345205-74345206
GRCh38: 6:73635482-73635483
42 SLC17A5 NM_012434.5(SLC17A5):c.979-2A>G SNV Likely pathogenic 556798 rs1554162230 GRCh37: 6:74325172-74325172
GRCh38: 6:73615449-73615449
43 SLC17A5 NM_012434.5(SLC17A5):c.292-1G>C SNV Likely pathogenic 557474 rs1554164322 GRCh37: 6:74351648-74351648
GRCh38: 6:73641925-73641925
44 SLC17A5 NM_012434.5(SLC17A5):c.1259+1G>T SNV Likely pathogenic 553387 rs146095590 GRCh37: 6:74320122-74320122
GRCh38: 6:73610399-73610399
45 SLC17A5 NM_012434.5(SLC17A5):c.820-2A>C SNV Likely pathogenic 553597 rs1554162842 GRCh37: 6:74331687-74331687
GRCh38: 6:73621964-73621964
46 SLC17A5 NM_012434.5(SLC17A5):c.613+2T>A SNV Likely pathogenic 551797 rs1554164078 GRCh37: 6:74348133-74348133
GRCh38: 6:73638410-73638410
47 SLC17A5 NM_012434.5(SLC17A5):c.614-1G>A SNV Likely pathogenic 552156 rs1554163958 GRCh37: 6:74346431-74346431
GRCh38: 6:73636708-73636708
48 SLC17A5 NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) SNV Likely pathogenic 167694 rs727504157 GRCh37: 6:74363567-74363567
GRCh38: 6:73653844-73653844
49 SLC17A5 NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) Deletion Likely pathogenic 56556 rs386833992 GRCh37: 6:74351432-74351432
GRCh38: 6:73641709-73641709
50 SLC17A5 NM_012434.5(SLC17A5):c.1259+1G>A SNV Likely pathogenic 370393 rs146095590 GRCh37: 6:74320122-74320122
GRCh38: 6:73610399-73610399

UniProtKB/Swiss-Prot genetic disease variations for Salla Disease:

72
# Symbol AA change Variation ID SNP ID
1 SLC17A5 p.Arg39Cys VAR_018684 rs80338794
2 SLC17A5 p.Lys136Glu VAR_018685 rs80338795

Expression for Salla Disease

Search GEO for disease gene expression data for Salla Disease.

Pathways for Salla Disease

Pathways related to Salla Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.58 LAMP2 LAMP1
2 11.44 LAMP2 LAMP1
3 11.29 LAMP2 LAMP1
4 10.98 LAMP2 LAMP1
5 10.91 SLC17A5 LAMP2 LAMP1

GO Terms for Salla Disease

Cellular components related to Salla Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.58 SLC17A5 LAMP2 LAMP1
2 endosome membrane GO:0010008 9.48 LAMP2 LAMP1
3 late endosome GO:0005770 9.46 LAMP2 LAMP1
4 late endosome membrane GO:0031902 9.43 LAMP2 LAMP1
5 ficolin-1-rich granule membrane GO:0101003 9.37 LAMP2 LAMP1
6 lysosome GO:0005764 9.33 SLC17A5 LAMP2 LAMP1
7 azurophil granule membrane GO:0035577 9.32 LAMP2 LAMP1
8 autophagosome membrane GO:0000421 9.26 LAMP2 LAMP1
9 lysosomal membrane GO:0005765 9.13 SLC17A5 LAMP2 LAMP1
10 autolysosome GO:0044754 8.62 LAMP2 LAMP1

Biological processes related to Salla Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 8.96 LAMP2 LAMP1
2 establishment of protein localization to organelle GO:0072594 8.62 LAMP2 LAMP1

Molecular functions related to Salla Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.96 LAMP2 LAMP1
2 protein domain specific binding GO:0019904 8.62 LAMP2 LAMP1

Sources for Salla Disease

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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