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SLS
MCID: SJG002
MIFTS: 55

Sjogren-Larsson Syndrome (SLS)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Sjogren-Larsson Syndrome

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MalaCards integrated aliases for Sjogren-Larsson Syndrome:

Name: Sjogren-Larsson Syndrome 58 39 12 54 26 38 13 56 45 15 74
Sjögren-Larsson Syndrome 77 54 26 60 30 6
Sls 58 54 26 76
Fatty Aldehyde Dehydrogenase Deficiency 58 54 26
Faldh Deficiency 58 54 26
Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia 58 54
Sjogren Larsson Syndrome 12 54
Congenital Icthyosis Mental Retardation Spasticity Syndrome 26
Fatty Alcohol:nad+ Oxidoreductase Deficiency 58
Fatty Acid Alcohol Oxidoreductase Deficiency 60
Ichthyosis Oligophrenia Syndrome 26
Sjogren-Larsson's Syndrome 12
Sjoegren-Larsson Syndrome 76
Syndrome, Sjogren-Larsson 41
Fadh Deficiency 54
Fao Deficiency 54

Characteristics:

Orphanet epidemiological data:

60
sjögren-larsson syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of neurologic symptoms often by 30 months
prevalent in sweden


HPO:

33
sjogren-larsson syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Skin diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


Sources

Summaries for Sjogren-Larsson Syndrome

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UniProtKB/Swiss-Prot : 76 Sjoegren-Larsson syndrome: An autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects.

MalaCards based summary : Sjogren-Larsson Syndrome, also known as sjögren-larsson syndrome, is related to spondylometaepiphyseal dysplasia, short limb-hand type and polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, and has symptoms including seizures, photophobia and muscle spasticity. An important gene associated with Sjogren-Larsson Syndrome is ALDH3A2 (Aldehyde Dehydrogenase 3 Family Member A2), and among its related pathways/superpathways are Fatty acid degradation and Metabolism. The drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are intellectual disability and kyphosis

Genetics Home Reference : 26 Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood and usually do not worsen with age.

NIH Rare Diseases : 54 Sjogren-Larsson syndrome (SLS) is an inborn error of lipid metabolism, characterized by congenital ichthyosis (dry, scaly skin), intellectual disability, and spasticity (stiffness and involuntary muscle spasms).  The syndrome is caused by mutations in the gene called FADH (fatty aldehyde dehydrogenase) and is inherited in an autosomal recessive fashion. Treatment is symptomatic.

OMIM : 58 Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006). (270200)

Wikipedia : 77 Sjögren–Larsson syndrome is an autosomal recessive form of ichthyosis apparent at birth. Sjögren–Larsson... more...

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Related Diseases for Sjogren-Larsson Syndrome

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Diseases in the Sjogren-Larsson Syndrome family:

Sjogren-Larsson-Like Syndrome

Diseases related to Sjogren-Larsson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 spondylometaepiphyseal dysplasia, short limb-hand type 11.8
2 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 11.7
3 rud syndrome 11.6
4 senior-loken syndrome 1 11.5
5 ichthyosis alopecia eclabion ectropion mental retardation 11.4
6 mucopolysaccharidosis, type vii 11.1
7 ichthyosis 10.5
8 ichthyosis lamellar 1 10.4
9 quadriplegia 10.3
10 histidinemia 10.3
11 asthma 10.3
12 macular degeneration, age-related, 1 10.3
13 immunodeficiency with hyper-igm, type 2 10.3
14 pneumonia 10.3
15 spasticity 10.3
16 systemic scleroderma 10.2
17 vater/vacterl association 10.2
18 chondrodysplasia punctata syndrome 10.2
19 pyle disease 10.2
20 helix syndrome 10.2
21 vacterl association 10.2
22 rhizomelic chondrodysplasia punctata 10.2
23 dystonia 10.2
24 dermatophytosis 10.2
25 bowenoid papulosis 10.2
26 dandy-walker complex 10.2
27 xp22.3 microdeletion syndrome 10.2
28 lung cancer 10.0
29 dermatitis 10.0
30 breast cancer 10.0
31 hirschsprung disease 1 10.0
32 scleroderma, familial progressive 10.0
33 small cell cancer of the lung 10.0
34 tetralogy of fallot 10.0
35 pulmonary disease, chronic obstructive 10.0
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
37 leukemia 10.0
38 lymphoma 10.0
39 impotence 10.0
40 interstitial lung disease 10.0
41 lung disease 10.0
42 herpes zoster 10.0
43 chickenpox 10.0
44 hypoglycemia 10.0
45 spinocerebellar ataxia, autosomal recessive 21 10.0 FA2H PNPLA6
46 spastic paraplegia 73, autosomal dominant 9.9 FA2H PNPLA6
47 paraplegia 9.9 FA2H PNPLA6
48 blood group, kidd system 9.8
49 blood group--wright antigen 9.8
50 prostate cancer 9.8

Graphical network of the top 20 diseases related to Sjogren-Larsson Syndrome:



Diseases related to Sjogren-Larsson Syndrome
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Symptoms & Phenotypes for Sjogren-Larsson Syndrome

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Human phenotypes related to Sjogren-Larsson Syndrome:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 kyphosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002808
3 abnormal pyramidal sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0007256
4 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
5 ichthyosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008064
6 hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000962
7 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
8 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
9 spastic diplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001264
10 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
11 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
12 abnormality of retinal pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007703
13 retinopathy 60 33 frequent (33%) Frequent (79-30%) HP:0000488
14 photophobia 60 33 frequent (33%) Frequent (79-30%) HP:0000613
15 corneal erosion 60 33 frequent (33%) Frequent (79-30%) HP:0200020
16 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
17 macular degeneration 60 33 frequent (33%) Frequent (79-30%) HP:0000608
18 inflammatory abnormality of the eye 60 33 frequent (33%) Frequent (79-30%) HP:0100533
19 generalized hyperpigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007440
20 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
21 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
22 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
23 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
24 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
25 abnormality of dental enamel 60 33 occasional (7.5%) Occasional (29-5%) HP:0000682
26 urticaria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001025
27 spasticity 60 33 Very frequent (99-80%) HP:0001257
28 neurological speech impairment 60 Frequent (79-30%)
29 retinal thinning 33 HP:0030329
30 thoracic kyphosis 33 HP:0002942
31 hypoplasia of dental enamel 33 HP:0006297
32 cns demyelination 33 HP:0007305
33 retinal pigment epithelial atrophy 33 HP:0007722
34 opacification of the corneal epithelium 33 HP:0007727

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
spasticity
mental retardation
demyelination in central white matter

Head And Neck Eyes:
photophobia
macular degeneration
glistening white dots in fundus
superficial corneal opacities
upper eyelid ichthyosis
more
Head And Neck Teeth:
enamel hypoplasia

Skin Nails Hair Nails:
normal nails

Skeletal Feet:
sole thickening

Laboratory Abnormalities:
fatty alcohol:nad+ oxidoreductase deficiency in leukocytes and fibroblasts

Growth Height:
short stature

Skeletal Spine:
thoracic kyphosis

Skin Nails Hair Hair:
normal hair

Skeletal Hands:
palm thickening

Skin Nails Hair Skin:
pruritic ichthyosis (onset birth to first several months)

Clinical features from OMIM:

270200

UMLS symptoms related to Sjogren-Larsson Syndrome:


seizures, photophobia, muscle spasticity

MGI Mouse Phenotypes related to Sjogren-Larsson Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 ALDH3A2 FA2H HSPG2 LPIN1 PNPLA6 SKAP2
2 integument MP:0010771 9.35 ALDH3A2 FA2H HSPG2 LPIN1 PNPLA6
3 nervous system MP:0003631 9.02 ALDH3A2 FA2H HSPG2 LPIN1 PNPLA6
Sources

Drugs & Therapeutics for Sjogren-Larsson Syndrome

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Drugs for Sjogren-Larsson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 2 64-17-5 702

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 RESET Trial - Part 1 (Followed by Reset Trial - Part 2) - A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS) Recruiting NCT03445650 Phase 3 ADX-102 1% Topical Dermal Cream (reproxalap);Vehicle of ADX-102 Topical Dermal Cream
2 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2 Active topical NS2 1% dermatologic cream;Vehicle placebo 0.0% NS2 dermatologic cream
3 Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers Recruiting NCT01971957

Search NIH Clinical Center for Sjogren-Larsson Syndrome

Cochrane evidence based reviews: sjogren-larsson syndrome

Sources

Genetic Tests for Sjogren-Larsson Syndrome

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Genetic tests related to Sjogren-Larsson Syndrome:

# Genetic test Affiliating Genes
1 Sjögren-Larsson Syndrome 30 ALDH3A2
Sources

Anatomical Context for Sjogren-Larsson Syndrome

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MalaCards organs/tissues related to Sjogren-Larsson Syndrome:

42
Skin, Eye, Retina, Brain, Prostate, Spinal Cord
Sources

Publications for Sjogren-Larsson Syndrome

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Articles related to Sjogren-Larsson Syndrome:

(show top 50) (show all 233)
# Title Authors Year
1
Neural symptoms in a gene knockout mouse model of Sjögren-Larsson syndrome are associated with a decrease in 2-hydroxygalactosylceramide. ( 30085884 )
2019
2
Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome. ( 30609437 )
2019
3
Genotype and phenotype variability in Sjögren-Larsson syndrome. ( 30372562 )
2019
4
OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME. ( 28301413 )
2019
5
Typical clinical and neuroimaging features in Sjögren-Larsson syndrome. ( 29742247 )
2018
6
Ciliopathy: Sjögren-Larsson Syndrome. ( 30578509 )
2018
7
Sjogren-Larsson Syndrome: A Rare Case Report. ( 30258805 )
2018
8
Late-Stage Sjögren-Larsson Syndrome Maculopathy Imaged With OCT Angiography. ( 30222823 )
2018
9
Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report. ( 30157790 )
2018
10
Clinical and molecular characterization and response to acitretin in three families with Sjögren-Larsson syndrome. ( 29704247 )
2018
11
Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren-Larsson Syndrome. ( 29375833 )
2018
12
Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran. ( 29183715 )
2018
13
Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome. ( 29071827 )
2018
14
Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model. ( 28915122 )
2018
15
Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome. ( 28543186 )
2018
16
Sjögren-Larsson syndrome: definitive diagnosis on magnetic resonance spectroscopy. ( 29360893 )
2017
17
Atypical Presentation of Sjögren-Larsson Syndrome. ( 29181214 )
2017
18
Expanding the Genotype of Sjögren-Larsson Syndrome: A New Case Due to Two Novel Mutations. ( 28410621 )
2017
19
Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome. ( 28257279 )
2017
20
Child Neurology: Sjögren-Larsson syndrome. ( 28025403 )
2017
21
Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome. ( 28471629 )
2016
22
Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome. ( 27547594 )
2016
23
A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma. ( 27462357 )
2016
24
Sjögren-Larsson Syndrome: A Neuro-Ichthyotic Disorder With Unique Magnetic Resonance Features. ( 27212566 )
2016
25
Sjogren-Larsson syndrome: A rare neurocutaneous disorder. ( 27195039 )
2016
26
Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system. ( 27095813 )
2016
27
Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren-Larsson syndrome. ( 27061911 )
2016
28
Disruption of the Sjögren-Larsson Syndrome Gene Aldh3a2 in Mice Increases Keratinocyte Growth and Retards Skin Barrier Recovery. ( 27053112 )
2016
29
Zileuton for Pruritus in Sjögren-Larsson Syndrome: A Randomized Double-blind Placebo-controlled Crossover Trial. ( 26123322 )
2016
30
Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis. ( 25855245 )
2015
31
Segmentation of Retinal Layers in Sjögren-Larsson Syndrome. ( 25784589 )
2015
32
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome. ( 25432520 )
2015
33
A rare cause of pruritic ichthyosis: Sjögren-Larsson syndrome in the first reported patients of Cypriot descent. ( 26394537 )
2015
34
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase. ( 25047030 )
2014
35
Sjögren-Larsson syndrome: A study of clinical symptoms in six children. ( 24860759 )
2014
36
Sjögren-Larsson syndrome: optical coherence tomography and a novel mutation. ( 24377952 )
2014
37
A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation. ( 24101836 )
2013
38
Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome. ( 23450279 )
2013
39
Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. ( 23034980 )
2013
40
Sjögren-Larsson syndrome: importance of early diagnosis and aggressive physiotherapy. ( 23031378 )
2012
41
Optical coherence tomography aspect of crystalline macular dystrophy in Sjögren-Larsson syndrome. ( 22932746 )
2012
42
Sjögren-Larsson syndrome in clinical practice. ( 22833178 )
2012
43
Sjögren-Larsson syndrome--unusual presentation with pathological femoral neck fracture: a case report. ( 22828186 )
2012
44
The Sjögren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway. ( 22633490 )
2012
45
Sjögren-Larsson syndrome: phenotypic variability in two brothers with a neurocutaneous disorder. ( 22426667 )
2012
46
Sjogren-Larsson syndrome. ( 22411255 )
2012
47
Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation. ( 22397046 )
2012
48
Diagnosis of Sjögren-Larsson syndrome by magnetic resonance spectroscopy. ( 22196496 )
2012
49
Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort. ( 21872273 )
2012
50
A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy. ( 21713441 )
2012
Sources

Variations for Sjogren-Larsson Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Sjogren-Larsson Syndrome:

76 (show all 26)
# Symbol AA change Variation ID SNP ID
1 ALDH3A2 p.Leu106Arg VAR_002249 rs72547558
2 ALDH3A2 p.Cys214Tyr VAR_002250 rs72547564
3 ALDH3A2 p.Cys226Trp VAR_002251 rs72547565
4 ALDH3A2 p.Asp245Asn VAR_002252 rs72547568
5 ALDH3A2 p.Pro315Ser VAR_002254 rs72547571
6 ALDH3A2 p.Ser365Leu VAR_002255 rs72547573
7 ALDH3A2 p.Gly412Arg VAR_002256 rs778115541
8 ALDH3A2 p.Ile45Phe VAR_017510
9 ALDH3A2 p.Val64Asp VAR_017511 rs72547556
10 ALDH3A2 p.Pro114Leu VAR_017512 rs72547559
11 ALDH3A2 p.Pro121Leu VAR_017513 rs72547560
12 ALDH3A2 p.Thr184Met VAR_017514 rs72547562
13 ALDH3A2 p.Thr184Arg VAR_017515
14 ALDH3A2 p.Gly185Ala VAR_017516 rs72547563
15 ALDH3A2 p.Arg228Cys VAR_017517 rs72547566
16 ALDH3A2 p.Cys237Tyr VAR_017518 rs72547567
17 ALDH3A2 p.Lys266Asn VAR_017519 rs72547569
18 ALDH3A2 p.Tyr279Asn VAR_017520 rs72547570
19 ALDH3A2 p.Met328Ile VAR_017521 rs72547572
20 ALDH3A2 p.Asn386Ser VAR_017522 rs72547575
21 ALDH3A2 p.Gly406Arg VAR_017523
22 ALDH3A2 p.His411Tyr VAR_017524
23 ALDH3A2 p.Ser415Asn VAR_017525
24 ALDH3A2 p.Phe419Ser VAR_017526 rs72547576
25 ALDH3A2 p.Arg423His VAR_017527 rs768290318
26 ALDH3A2 p.Lys447Glu VAR_017528 rs67939114

ClinVar genetic disease variations for Sjogren-Larsson Syndrome:

6 (show top 50) (show all 231)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH3A2 NM_000382.2(ALDH3A2): c.1307_1311dupACAAA (p.Leu438Thrfs) duplication Pathogenic rs387906257 GRCh37 Chromosome 17, 19575133: 19575137
2 ALDH3A2 NM_000382.2(ALDH3A2): c.1307_1311dupACAAA (p.Leu438Thrfs) duplication Pathogenic rs387906257 GRCh38 Chromosome 17, 19671820: 19671824
3 ALDH3A2 NM_000382.2(ALDH3A2): c.798G> C (p.Lys266Asn) single nucleotide variant Likely pathogenic rs72547569 GRCh37 Chromosome 17, 19561175: 19561175
4 ALDH3A2 NM_000382.2(ALDH3A2): c.798G> C (p.Lys266Asn) single nucleotide variant Likely pathogenic rs72547569 GRCh38 Chromosome 17, 19657862: 19657862
5 ALDH3A2 NM_000382.2(ALDH3A2): c.1157A> G (p.Asn386Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 19568310: 19568310
6 ALDH3A2 NM_000382.2(ALDH3A2): c.1157A> G (p.Asn386Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 19664997: 19664997
7 ALDH3A2 NM_000382.2(ALDH3A2): c.1212delC (p.Ser405Valfs) deletion Likely pathogenic GRCh37 Chromosome 17, 19575036: 19575037
8 ALDH3A2 NM_000382.2(ALDH3A2): c.1212delC (p.Ser405Valfs) deletion Likely pathogenic GRCh38 Chromosome 17, 19671725: 19671725
9 ALDH3A2 NM_000382.3(ALDH3A2): c.837T> G (p.Tyr279Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 19564478: 19564478
10 ALDH3A2 NM_000382.3(ALDH3A2): c.837T> G (p.Tyr279Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 19661165: 19661165
11 ALDH3A2 NM_001031806.1(ALDH3A2): c.932G> T (p.Arg311Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 19661260: 19661260
12 ALDH3A2 NM_001031806.1(ALDH3A2): c.932G> T (p.Arg311Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 19564573: 19564573
13 ALDH3A2 NM_000382.2(ALDH3A2): c.1443+1273_1443+1275delAGAinsGG indel Uncertain significance GRCh38 Chromosome 17, 19673229: 19673231
14 ALDH3A2 NM_000382.2(ALDH3A2): c.1443+1273_1443+1275delAGAinsGG indel Uncertain significance GRCh37 Chromosome 17, 19576541: 19576544
15 ALDH3A2 NM_000382.2(ALDH3A2): c.1367T> A (p.Leu456Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 19671880: 19671880
16 ALDH3A2 NM_000382.2(ALDH3A2): c.1367T> A (p.Leu456Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 19575193: 19575193
17 ALDH3A2 NM_000382.2(ALDH3A2): c.991_993delGAA (p.Glu331del) deletion Uncertain significance GRCh38 Chromosome 17, 19663383: 19663385
18 ALDH3A2 NM_000382.2(ALDH3A2): c.991_993delGAA (p.Glu331del) deletion Uncertain significance GRCh37 Chromosome 17, 19566690: 19566693
19 ALDH3A2 NM_000382.2(ALDH3A2): c.979delG (p.Val327Terfs) deletion Likely pathogenic GRCh37 Chromosome 17, 19566682: 19566683
20 ALDH3A2 NM_000382.2(ALDH3A2): c.258_260delGAA (p.Lys86del) deletion Uncertain significance GRCh38 Chromosome 17, 19651651: 19651653
21 ALDH3A2 NM_000382.2(ALDH3A2): c.258_260delGAA (p.Lys86del) deletion Uncertain significance GRCh37 Chromosome 17, 19554958: 19554961
22 ALDH3A2 NM_000382.2(ALDH3A2): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 19648974: 19648974
23 ALDH3A2 NM_000382.2(ALDH3A2): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 19552287: 19552287
24 ALDH3A2 NM_000382.2(ALDH3A2): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 19648974: 19648974
25 ALDH3A2 NM_000382.2(ALDH3A2): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 19552287: 19552287
26 ALDH3A2 NM_000382.2(ALDH3A2): c.979delG (p.Val327Terfs) deletion Likely pathogenic GRCh38 Chromosome 17, 19663371: 19663371
27 ALDH3A2 NM_000382.2(ALDH3A2): c.1443+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 19671957: 19671957
28 ALDH3A2 NM_000382.2(ALDH3A2): c.1443+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 19575270: 19575270
29 ALDH3A2 NM_000382.2(ALDH3A2): c.1367delT (p.Leu456Terfs) deletion Likely pathogenic GRCh38 Chromosome 17, 19671880: 19671880
30 ALDH3A2 NM_000382.2(ALDH3A2): c.1367delT (p.Leu456Terfs) deletion Likely pathogenic GRCh37 Chromosome 17, 19575191: 19575192
31 ALDH3A2 NM_000382.2(ALDH3A2): c.1258dup (p.Ser420Phefs) duplication Likely pathogenic GRCh38 Chromosome 17, 19671771: 19671771
32 ALDH3A2 NM_000382.2(ALDH3A2): c.1258dup (p.Ser420Phefs) duplication Likely pathogenic GRCh37 Chromosome 17, 19575079: 19575079
33 ALDH3A2 NM_000382.2(ALDH3A2): c.73C> T (p.Gln25Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 19649044: 19649044
34 ALDH3A2 NM_000382.2(ALDH3A2): c.73C> T (p.Gln25Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 19552357: 19552357
35 ALDH3A2 NM_000382.2(ALDH3A2): c.1A> T (p.Met1Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 19648972: 19648972
36 ALDH3A2 NM_000382.2(ALDH3A2): c.1A> T (p.Met1Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 19552285: 19552285
37 ALDH3A2 NM_000382.2(ALDH3A2): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 19648972: 19648972
38 ALDH3A2 NM_000382.2(ALDH3A2): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 19552285: 19552285
39 ALDH3A2 NM_000382.2(ALDH3A2): c.1207+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 19665048: 19665048
40 ALDH3A2 NM_000382.2(ALDH3A2): c.1207+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 19568361: 19568361
41 ALDH3A2 NM_000382.2(ALDH3A2): c.1108-1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 19664947: 19664947
42 ALDH3A2 NM_000382.2(ALDH3A2): c.1108-1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 19568260: 19568260
43 ALDH3A2 NM_000382.2(ALDH3A2): c.682C> T (p.Arg228Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 19657746: 19657746
44 ALDH3A2 NM_000382.2(ALDH3A2): c.682C> T (p.Arg228Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 19561059: 19561059
45 ALDH3A2 NM_000382.2(ALDH3A2): c.472-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 19656364: 19656364
46 ALDH3A2 NM_000382.2(ALDH3A2): c.472-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 19559677: 19559677
47 ALDH3A2 NM_000382.2(ALDH3A2): c.154_155delAG (p.Ser52Terfs) deletion Likely pathogenic GRCh38 Chromosome 17, 19651547: 19651548
48 ALDH3A2 NM_000382.2(ALDH3A2): c.154_155delAG (p.Ser52Terfs) deletion Likely pathogenic GRCh37 Chromosome 17, 19554857: 19554859
49 ALDH3A2 NM_000382.2(ALDH3A2): c.1443+1222delG deletion Likely benign GRCh38 Chromosome 17, 19673178: 19673178
50 ALDH3A2 NM_000382.2(ALDH3A2): c.1443+1222delG deletion Likely benign GRCh37 Chromosome 17, 19576489: 19576490
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Expression for Sjogren-Larsson Syndrome

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Search GEO for disease gene expression data for Sjogren-Larsson Syndrome.
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Pathways for Sjogren-Larsson Syndrome

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Pathways related to Sjogren-Larsson Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071

Pathways related to Sjogren-Larsson Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 67
Show member pathways
 13.08 ALDH3A2 FA2H HSPG2 LPIN1 PNPLA6 TAZ
2
Glycerophospholipid biosynthesis 67
Show member pathways
 12.07 LPIN1 PNPLA6 TAZ
3
Glycerolipid metabolism 38
10.41 ALDH3A2 LPIN1
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GO Terms for Sjogren-Larsson Syndrome

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Cellular components related to Sjogren-Larsson Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.26 ALDH3A2 FA2H LPIN1 PNPLA6
2 organelle membrane GO:0031090 9.16 ALDH3A2 FA2H
3 endoplasmic reticulum membrane GO:0005789 8.92 ALDH3A2 FA2H LPIN1 PNPLA6

Biological processes related to Sjogren-Larsson Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sphingolipid biosynthetic process GO:0030148 9.16 ALDH3A2 FA2H
2 fatty acid metabolic process GO:0006631 9.13 ALDH3A2 FA2H LPIN1
3 lipid metabolic process GO:0006629 9.02 ALDH3A2 FA2H HSPG2 LPIN1 PNPLA6
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Sources for Sjogren-Larsson Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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