MCID: SLL003
MIFTS: 44

Salla Disease

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

Aliases & Classifications for Salla Disease

MalaCards integrated aliases for Salla Disease:

Name: Salla Disease 57 76 53 59 75 29 13 6 40
Sialuria, Finnish Type 57 53
Sd 57 75
Sialic Acid Storage Disease, Finnish Type 73
Finnish Type Sialuria 75

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
salla disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Salla Disease

NIH Rare Diseases : 53 Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life, followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures; ataxia; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.

MalaCards based summary : Salla Disease, also known as sialuria, finnish type, is related to intermediate severe salla disease and shwachman-diamond syndrome 1, and has symptoms including ataxia, athetosis and muscle spasticity. 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 testes, and related phenotypes are nystagmus and intellectual disability

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal... more...

Related Diseases for Salla Disease

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



Diseases related to Salla Disease

Symptoms & Phenotypes for Salla Disease

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
exotropia

Growth Other:
growth retardation

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

Neurologic Central Nervous System:
seizures
ataxia
spasticity
dysarthria
inability to walk
more
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

Human phenotypes related to Salla Disease:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 muscular hypotonia 32 HP:0001252
6 spasticity 32 HP:0001257
7 dysarthria 32 HP:0001260
8 global developmental delay 32 HP:0001263
9 delayed speech and language development 32 HP:0000750
10 thickened calvaria 32 HP:0002684
11 abnormality of metabolism/homeostasis 32 HP:0001939
12 growth delay 32 HP:0001510
13 inability to walk 32 HP:0002540
14 athetosis 32 HP:0002305
15 generalized hypotonia 32 HP:0001290
16 exotropia 32 HP:0000577
17 vacuolated lymphocytes 32 HP:0001922

UMLS symptoms related to Salla Disease:


ataxia, athetosis, muscle spasticity, seizures

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

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.09 LAMP1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.09 SLC17A5 LAMP2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.09 LAMP2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.09 LAMP2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.09 SLC17A5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.09 LAMP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.09 LAMP2 SLC17A5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.09 SLC17A5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.09 SLC17A5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.09 LAMP2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.09 LAMP2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.09 LAMP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.09 LAMP2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.09 LAMP2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.09 SLC17A5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.09 LAMP1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.09 LAMP1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.09 LAMP2 LAMP1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10.09 LAMP2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.09 LAMP2 SLC17A5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.09 LAMP1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.09 LAMP2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.09 SLC17A5
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.43 LAMP1 SLC17A5
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.43 SLC17A5
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.43 LAMP1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.43 SLC17A5
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.43 LAMP1

Drugs & Therapeutics for Salla Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sialic Acid Supplementation in N-Acetylneuraminic Acid Synthase (NANS) Deficiency Recruiting NCT03545568 Not Applicable

Search 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:

41
Brain, Testes

Publications for Salla Disease

Articles related to Salla Disease:

(show all 50)
# Title Authors Year
1
First Patient With Salla Disease Confirmed by Genomic Analysis in Japan. ( 29472023 )
2018
2
A New Patient With Intermediate Severe Salla DiseaseA With Hypomyelination: A Literature Review for Salla Disease. ( 28662915 )
2017
3
A 13-year follow-up of Finnish patients with Salla disease. ( 26171070 )
2015
4
The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings. ( 24993898 )
2014
5
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. ( 23227378 )
2012
6
Salla disease in Turkish children: severe and conventional type. ( 20196397 )
2009
7
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. ( 16170568 )
2005
8
Novel form of intermediate salla disease: clinical and neuroimaging features. ( 16417876 )
2005
9
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. ( 16158439 )
2005
10
Neurocognitive profiles in Salla disease. ( 15581157 )
2004
11
Cerebellar white matter involvement in Salla disease. ( 15179531 )
2004
12
Salla disease and ISSD--what does the future hold? ( 15171996 )
2004
13
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. ( 15635485 )
2004
14
A case of Salla disease with involvement of the cerebellar white matter. ( 12592494 )
2003
15
Two cases of Salla disease in Danish children. ( 14696864 )
2003
16
Free sialic acid storage (Salla) disease in Sweden. ( 12578289 )
2002
17
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. ( 12121352 )
2002
18
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. ( 11992753 )
2002
19
Multiple neuroendocrine disorder in Salla disease. ( 11669356 )
2001
20
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. ( 10891913 )
2000
21
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). ( 9935050 )
1999
22
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. ( 10331697 )
1999
23
Brain involvement in Salla disease. ( 10219409 )
1999
24
Use of isotopically radiolabelled GM3 ganglioside to study metabolic alterations in Salla disease. ( 9343943 )
1997
25
Salla disease--rare or underdiagnosed? ( 9112963 )
1997
26
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. ( 8825046 )
1996
27
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. ( 7573051 )
1995
28
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. ( 7557994 )
1995
29
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. ( 7885532 )
1994
30
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. ( 1505579 )
1992
31
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program. ( 1733832 )
1992
32
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. ( 1959930 )
1991
33
Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease. ( 2381164 )
1990
34
Neuropathology of Salla disease. ( 3287834 )
1988
35
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. ( 3425617 )
1987
36
Disorders of lysosomal membrane transport--cystinosis and Salla disease. ( 3326729 )
1987
37
Pulmonary emphysema in a nonsmoking patient with Salla disease. ( 3565947 )
1987
38
Salla disease in one non-Finnish patient. ( 3770005 )
1986
39
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. ( 3944269 )
1986
40
Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes. ( 3718508 )
1986
41
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. ( 3961501 )
1986
42
Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children. ( 3960283 )
1986
43
Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease. ( 4010893 )
1985
44
Finnish type of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes. ( 4032465 )
1985
45
Copper and zinc metabolism in aspartylglycosaminuria and Salla disease. ( 4012278 )
1985
46
Clinical and laboratory diagnosis of Salla disease in infancy and childhood. ( 6694015 )
1984
47
Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism. ( 6297896 )
1983
48
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. ( 6681560 )
1983
49
Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease. ( 510308 )
1979
50
Four patients with a new lysosomal storage disorder (Salla disease). ( 723890 )
1978

Variations for Salla Disease

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

75
# Symbol AA change Variation ID SNP ID
1 SLC17A5 p.Arg39Cys VAR_018684 rs80338794
2 SLC17A5 p.Lys136Glu VAR_018685 rs80338795

ClinVar genetic disease variations for Salla Disease:

6
(show top 50) (show all 133)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC17A5 NM_012434.4(SLC17A5): c.115C> T (p.Arg39Cys) single nucleotide variant Pathogenic rs80338794 GRCh37 Chromosome 6, 74354306: 74354306
2 SLC17A5 NM_012434.4(SLC17A5): c.115C> T (p.Arg39Cys) single nucleotide variant Pathogenic rs80338794 GRCh38 Chromosome 6, 73644583: 73644583
3 SLC17A5 SLC17A5, 15-BP DEL, NT802 deletion Pathogenic
4 SLC17A5 NM_012434.4(SLC17A5): c.406A> G (p.Lys136Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80338795 GRCh37 Chromosome 6, 74351533: 74351533
5 SLC17A5 NM_012434.4(SLC17A5): c.406A> G (p.Lys136Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80338795 GRCh38 Chromosome 6, 73641810: 73641810
6 SLC17A5 NM_012434.4(SLC17A5): c.1007_1008delTA (p.Leu336Trpfs) deletion Pathogenic rs386833987 GRCh37 Chromosome 6, 74325141: 74325142
7 SLC17A5 NM_012434.4(SLC17A5): c.1007_1008delTA (p.Leu336Trpfs) deletion Pathogenic rs386833987 GRCh38 Chromosome 6, 73615418: 73615419
8 SLC17A5 NM_012434.4(SLC17A5): c.1138_1139delGT (p.Val380Serfs) deletion Likely pathogenic rs386833988 GRCh37 Chromosome 6, 74320243: 74320244
9 SLC17A5 NM_012434.4(SLC17A5): c.1138_1139delGT (p.Val380Serfs) deletion Likely pathogenic rs386833988 GRCh38 Chromosome 6, 73610520: 73610521
10 SLC17A5 NM_012434.4(SLC17A5): c.1226G> A (p.Gly409Glu) single nucleotide variant Likely pathogenic rs386833989 GRCh37 Chromosome 6, 74320156: 74320156
11 SLC17A5 NM_012434.4(SLC17A5): c.1226G> A (p.Gly409Glu) single nucleotide variant Likely pathogenic rs386833989 GRCh38 Chromosome 6, 73610433: 73610433
12 SLC17A5 NM_012434.4(SLC17A5): c.291G> A (p.Thr97=) single nucleotide variant Pathogenic rs386833990 GRCh37 Chromosome 6, 74354130: 74354130
13 SLC17A5 NM_012434.4(SLC17A5): c.291G> A (p.Thr97=) single nucleotide variant Pathogenic rs386833990 GRCh38 Chromosome 6, 73644407: 73644407
14 SLC17A5 NM_012434.4(SLC17A5): c.309G> A (p.Trp103Ter) single nucleotide variant Likely pathogenic rs386833991 GRCh37 Chromosome 6, 74351630: 74351630
15 SLC17A5 NM_012434.4(SLC17A5): c.309G> A (p.Trp103Ter) single nucleotide variant Likely pathogenic rs386833991 GRCh38 Chromosome 6, 73641907: 73641907
16 SLC17A5 NM_012434.4(SLC17A5): c.507delA (p.Leu170Terfs) deletion Likely pathogenic rs386833992 GRCh37 Chromosome 6, 74351432: 74351432
17 SLC17A5 NM_012434.4(SLC17A5): c.507delA (p.Leu170Terfs) deletion Likely pathogenic rs386833992 GRCh38 Chromosome 6, 73641709: 73641709
18 SLC17A5 NM_012434.4(SLC17A5): c.719G> A (p.Trp240Ter) single nucleotide variant Likely pathogenic rs386833993 GRCh37 Chromosome 6, 74345205: 74345205
19 SLC17A5 NM_012434.4(SLC17A5): c.719G> A (p.Trp240Ter) single nucleotide variant Likely pathogenic rs386833993 GRCh38 Chromosome 6, 73635482: 73635482
20 SLC17A5 NM_012434.4(SLC17A5): c.802_816delTCATCATTAAGAAAT (p.Ser268_Asn272del) deletion Pathogenic rs386833994 GRCh37 Chromosome 6, 74345108: 74345122
21 SLC17A5 NM_012434.4(SLC17A5): c.802_816delTCATCATTAAGAAAT (p.Ser268_Asn272del) deletion Pathogenic rs386833994 GRCh38 Chromosome 6, 73635385: 73635399
22 SLC17A5 NM_012434.4(SLC17A5): c.95-1G> C single nucleotide variant Likely pathogenic rs386833995 GRCh37 Chromosome 6, 74354327: 74354327
23 SLC17A5 NM_012434.4(SLC17A5): c.95-1G> C single nucleotide variant Likely pathogenic rs386833995 GRCh38 Chromosome 6, 73644604: 73644604
24 SLC17A5 NM_012434.4(SLC17A5): c.983G> A (p.Gly328Glu) single nucleotide variant Likely pathogenic rs386833996 GRCh37 Chromosome 6, 74325166: 74325166
25 SLC17A5 NM_012434.4(SLC17A5): c.983G> A (p.Gly328Glu) single nucleotide variant Likely pathogenic rs386833996 GRCh38 Chromosome 6, 73615443: 73615443
26 SLC17A5 NM_012434.4(SLC17A5): c.533delC (p.Thr178Asnfs) deletion Pathogenic rs727504156 GRCh37 Chromosome 6, 74348215: 74348215
27 SLC17A5 NM_012434.4(SLC17A5): c.533delC (p.Thr178Asnfs) deletion Pathogenic rs727504156 GRCh38 Chromosome 6, 73638492: 73638492
28 SLC17A5 NM_012434.4(SLC17A5): c.886G> A (p.Val296Ile) single nucleotide variant Benign/Likely benign rs16883930 GRCh37 Chromosome 6, 74331619: 74331619
29 SLC17A5 NM_012434.4(SLC17A5): c.886G> A (p.Val296Ile) single nucleotide variant Benign/Likely benign rs16883930 GRCh38 Chromosome 6, 73621896: 73621896
30 SLC17A5 NM_012434.4(SLC17A5): c.409delA (p.Met137Cysfs) deletion Likely pathogenic rs794729653 GRCh37 Chromosome 6, 74351530: 74351530
31 SLC17A5 NM_012434.4(SLC17A5): c.409delA (p.Met137Cysfs) deletion Likely pathogenic rs794729653 GRCh38 Chromosome 6, 73641807: 73641807
32 SLC17A5 NM_012434.4(SLC17A5): c.*1630G> T single nucleotide variant Uncertain significance rs141885984 GRCh37 Chromosome 6, 74303170: 74303170
33 SLC17A5 NM_012434.4(SLC17A5): c.*1630G> T single nucleotide variant Uncertain significance rs141885984 GRCh38 Chromosome 6, 73593447: 73593447
34 SLC17A5 NM_012434.4(SLC17A5): c.*1533A> G single nucleotide variant Uncertain significance rs530389010 GRCh37 Chromosome 6, 74303267: 74303267
35 SLC17A5 NM_012434.4(SLC17A5): c.*1533A> G single nucleotide variant Uncertain significance rs530389010 GRCh38 Chromosome 6, 73593544: 73593544
36 SLC17A5 NM_012434.4(SLC17A5): c.*1492C> G single nucleotide variant Uncertain significance rs148144074 GRCh37 Chromosome 6, 74303308: 74303308
37 SLC17A5 NM_012434.4(SLC17A5): c.*1492C> G single nucleotide variant Uncertain significance rs148144074 GRCh38 Chromosome 6, 73593585: 73593585
38 SLC17A5 NM_012434.4(SLC17A5): c.*478C> T single nucleotide variant Uncertain significance rs886061733 GRCh37 Chromosome 6, 74304322: 74304322
39 SLC17A5 NM_012434.4(SLC17A5): c.*478C> T single nucleotide variant Uncertain significance rs886061733 GRCh38 Chromosome 6, 73594599: 73594599
40 SLC17A5 NM_012434.4(SLC17A5): c.*193A> G single nucleotide variant Likely benign rs3734517 GRCh37 Chromosome 6, 74304607: 74304607
41 SLC17A5 NM_012434.4(SLC17A5): c.*193A> G single nucleotide variant Likely benign rs3734517 GRCh38 Chromosome 6, 73594884: 73594884
42 SLC17A5 NM_012434.4(SLC17A5): c.1192A> G (p.Ile398Val) single nucleotide variant Uncertain significance rs374771372 GRCh37 Chromosome 6, 74320190: 74320190
43 SLC17A5 NM_012434.4(SLC17A5): c.1192A> G (p.Ile398Val) single nucleotide variant Uncertain significance rs374771372 GRCh38 Chromosome 6, 73610467: 73610467
44 SLC17A5 NM_012434.4(SLC17A5): c.1111+7G> A single nucleotide variant Likely benign rs146729568 GRCh37 Chromosome 6, 74325031: 74325031
45 SLC17A5 NM_012434.4(SLC17A5): c.1111+7G> A single nucleotide variant Likely benign rs146729568 GRCh38 Chromosome 6, 73615308: 73615308
46 SLC17A5 NM_012434.4(SLC17A5): c.606A> G (p.Ser202=) single nucleotide variant Benign rs3757112 GRCh37 Chromosome 6, 74348142: 74348142
47 SLC17A5 NM_012434.4(SLC17A5): c.606A> G (p.Ser202=) single nucleotide variant Benign rs3757112 GRCh38 Chromosome 6, 73638419: 73638419
48 SLC17A5 NM_012434.4(SLC17A5): c.*1450G> A single nucleotide variant Uncertain significance rs886061727 GRCh37 Chromosome 6, 74303350: 74303350
49 SLC17A5 NM_012434.4(SLC17A5): c.*1450G> A single nucleotide variant Uncertain significance rs886061727 GRCh38 Chromosome 6, 73593627: 73593627
50 SLC17A5 NM_012434.4(SLC17A5): c.*1332T> A single nucleotide variant Uncertain significance rs886061728 GRCh37 Chromosome 6, 74303468: 74303468

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 11.57 LAMP1 LAMP2
2 11.44 LAMP1 LAMP2
3 11.26 LAMP1 LAMP2
4 10.98 LAMP1 LAMP2
5 10.89 LAMP1 LAMP2 SLC17A5

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 9.54 LAMP1 LAMP2 SLC17A5
2 endosome membrane GO:0010008 9.43 LAMP1 LAMP2
3 late endosome GO:0005770 9.4 LAMP1 LAMP2
4 lysosome GO:0005764 9.33 LAMP1 LAMP2 SLC17A5
5 ficolin-1-rich granule membrane GO:0101003 9.32 LAMP1 LAMP2
6 azurophil granule membrane GO:0035577 9.26 LAMP1 LAMP2
7 lysosomal membrane GO:0005765 9.13 LAMP1 LAMP2 SLC17A5
8 autolysosome GO:0044754 8.62 LAMP1 LAMP2

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

# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 8.62 LAMP1 LAMP2

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 LAMP1 LAMP2
2 protein domain specific binding GO:0019904 8.62 LAMP1 LAMP2

Sources for Salla Disease

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17 ExPASy
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
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