SLS
MCID: SJG002
MIFTS: 53

Sjogren-Larsson Syndrome (SLS)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Sjogren-Larsson Syndrome

MalaCards integrated aliases for Sjogren-Larsson Syndrome:

Name: Sjogren-Larsson Syndrome 57 38 12 53 25 37 13 55 44 15 73
Sjögren-Larsson Syndrome 53 25 59 29 6
Sls 57 53 25 75
Fatty Aldehyde Dehydrogenase Deficiency 57 53 25
Faldh Deficiency 57 53 25
Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia 57 53
Sjogren Larsson Syndrome 12 53
Congenital Icthyosis Mental Retardation Spasticity Syndrome 25
Fatty Alcohol:nad+ Oxidoreductase Deficiency 57
Fatty Acid Alcohol Oxidoreductase Deficiency 59
Ichthyosis Oligophrenia Syndrome 25
Sjogren-Larsson's Syndrome 12
Sjoegren-Larsson Syndrome 75
Syndrome, Sjogren-Larsson 40
Sj�grenlarsson Syndrome 76
Fadh Deficiency 53
Fao Deficiency 53

Characteristics:

Orphanet epidemiological data:

59
sjögren-larsson syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
sjogren-larsson syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sjogren-Larsson Syndrome

UniProtKB/Swiss-Prot : 75 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 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and rud syndrome, 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 seizures

Genetics Home Reference : 25 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 : 53 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 : 57 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 : 76 Sjögren�??Larsson syndrome (SLS) is an autosomal recessive form of ichthyosis apparent at... more...

Related Diseases for Sjogren-Larsson Syndrome

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 65)
# Related Disease Score Top Affiliating Genes
1 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11.6
2 rud syndrome 11.6
3 senior-loken syndrome 1 11.5
4 spondylometaepiphyseal dysplasia, short limb-hand type 11.5
5 ichthyosis alopecia eclabion ectropion mental retardation 11.4
6 ichthyosis 10.4
7 ichthyosis lamellar 1 10.4
8 histidinemia 10.2
9 asthma 10.2
10 macular degeneration, age-related, 1 10.2
11 immunodeficiency with hyper-igm, type 2 10.2
12 pneumonia 10.2
13 spasticity 10.2
14 systemic scleroderma 10.1
15 hirschsprung disease 1 10.0
16 tetralogy of fallot 10.0
17 lung cancer 10.0
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
19 impotence 10.0
20 dermatitis 10.0
21 herpes zoster 10.0
22 chickenpox 10.0
23 spinocerebellar ataxia, autosomal recessive 21 9.9 FA2H PNPLA6
24 spastic paraplegia 73, autosomal dominant 9.9 FA2H PNPLA6
25 paraplegia 9.9 FA2H PNPLA6
26 spastic paraplegia 76, autosomal recessive 9.8 FA2H PNPLA6
27 prostate cancer 9.8
28 retinoblastoma 9.8
29 rheumatoid arthritis 9.8
30 scleroderma, familial progressive 9.8
31 small cell cancer of the lung 9.8
32 diastrophic dysplasia 9.8
33 blood group--swann system 9.8
34 horns in sheep 9.8
35 leukemia, acute lymphoblastic 9.8
36 hyperprolactinemia 9.8
37 sclerosing cholangitis, neonatal 9.8
38 acute leukemia 9.8
39 diabetes mellitus 9.8
40 tick-borne encephalitis 9.8
41 lymphoma 9.8
42 sensorineural hearing loss 9.8
43 lymphocytic leukemia 9.8
44 japanese encephalitis 9.8
45 onchocerciasis 9.8
46 dementia 9.8
47 uveitis 9.8
48 hypoactive sexual desire disorder 9.8
49 schistosomiasis 9.8
50 irritant dermatitis 9.8

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



Diseases related to Sjogren-Larsson Syndrome

Symptoms & Phenotypes for Sjogren-Larsson Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Sjogren-Larsson Syndrome:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
4 spasticity 59 32 Very frequent (99-80%) HP:0001257
5 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
8 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
9 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
10 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
11 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
12 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
13 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
14 retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000488
15 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
16 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
17 corneal erosion 59 32 frequent (33%) Frequent (79-30%) HP:0200020
18 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
19 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
20 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
21 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
22 macular degeneration 59 32 frequent (33%) Frequent (79-30%) HP:0000608
23 urticaria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001025
24 inflammatory abnormality of the eye 59 32 frequent (33%) Frequent (79-30%) HP:0100533
25 generalized hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007440
26 spastic diplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001264
27 neurological speech impairment 59 Frequent (79-30%)
28 abnormal pyramidal signs 59 Very frequent (99-80%)
29 retinal thinning 32 HP:0030329
30 thoracic kyphosis 32 HP:0002942
31 hypoplasia of dental enamel 32 HP:0006297
32 cns demyelination 32 HP:0007305
33 abnormal pyramidal sign 32 hallmark (90%) HP:0007256
34 retinal pigment epithelial atrophy 32 HP:0007722
35 opacification of the corneal epithelium 32 HP:0007727

UMLS symptoms related to Sjogren-Larsson Syndrome:


seizures, photophobia, muscle spasticity

MGI Mouse Phenotypes related to Sjogren-Larsson Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 ALDH3A2 FA2H LPIN1 PNPLA6 SKAP2
2 integument MP:0010771 8.92 ALDH3A2 FA2H LPIN1 PNPLA6

Drugs & Therapeutics for Sjogren-Larsson Syndrome

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

Genetic Tests for Sjogren-Larsson Syndrome

Genetic tests related to Sjogren-Larsson Syndrome:

# Genetic test Affiliating Genes
1 Sjögren-Larsson Syndrome 29 ALDH3A2

Anatomical Context for Sjogren-Larsson Syndrome

MalaCards organs/tissues related to Sjogren-Larsson Syndrome:

41
Skin, Eye, Retina, Brain, Lung, Prostate

Publications for Sjogren-Larsson Syndrome

Articles related to Sjogren-Larsson Syndrome:

(show all 47)
# 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 )
2018
2
Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report. ( 30157790 )
2018
3
Late-Stage Sjögren-Larsson Syndrome Maculopathy Imaged With OCT Angiography. ( 30222823 )
2018
4
Sjogren-Larsson Syndrome: A Rare Case Report. ( 30258805 )
2018
5
Genotype and phenotype variability in Sjögren-Larsson syndrome. ( 30372562 )
2018
6
OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME. ( 28301413 )
2017
7
Sjogren-Larsson syndrome: A rare neurocutaneous disorder. ( 27195039 )
2016
8
A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma. ( 27462357 )
2016
9
Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome. ( 28471629 )
2016
10
Sjögren-Larsson syndrome: optical coherence tomography and a novel mutation. ( 24377952 )
2014
11
Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. ( 23034980 )
2013
12
The Sjogren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway. ( 22633490 )
2012
13
Sjogren-Larsson syndrome. ( 22411255 )
2012
14
Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort. ( 21872273 )
2012
15
Sjogren-Larsson syndrome: A case report of a rare disease. ( 23130213 )
2011
16
Do you know this syndrome? Sjogren-Larsson syndrome. ( 21308331 )
2010
17
Sjogren-larsson syndrome: case report and review of neurologic abnormalities and ichthyosis. ( 19901712 )
2009
18
Typical neuroradiological features of sjogren-larsson syndrome. A case report. ( 24207035 )
2009
19
MR spectroscopy and diffusion tensor imaging of the brain in Sjögren-Larsson syndrome. ( 19656702 )
2009
20
Ocular features of Sjogren-Larsson syndrome. ( 17300584 )
2007
21
Sjögren-Larsson syndrome. ( 17254005 )
2007
22
Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome. ( 15834613 )
2005
23
Sjogren-Larsson syndrome: report of two cases. ( 17642579 )
2004
24
[Sjogren-Larsson syndrome: two cases with delayed diagnosis]. ( 12218895 )
2002
25
Sjogren-Larsson syndrome. ( 11929038 )
2002
26
Sjogren - Larsson Syndrome: a case report. ( 12391475 )
2002
27
Sjogren - Larsson Syndrome. ( 27407433 )
2002
28
Mutations associated with Sjogren-Larsson syndrome. ( 9250352 )
1997
29
A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden. ( 9254849 )
1997
30
Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. ( 8528251 )
1996
31
Sjogren-Larsson syndrome. ( 8855639 )
1996
32
Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods. ( 7971759 )
1994
33
Sjögren-Larsson syndrome. ( 7654590 )
1993
34
Sjogren larsson syndrome. ( 29542675 )
1993
35
The Sjogren-Larsson syndrome in a north Indian sibship. ( 1937621 )
1991
36
Cranial CT in the Sjogren-Larsson syndrome. ( 3431701 )
1987
37
Sjogren-Larsson syndrome. ( 3804430 )
1986
38
Sjogren-Larsson syndrome. ( 7142720 )
1982
39
Cranial CT in the Sjögren-Larsson syndrome. ( 7207811 )
1981
40
Sjogren-Larsson syndrome (dizygotic twins). ( 560199 )
1977
41
Sjogren Larsson Syndrome (Two case reports). ( 28266365 )
1977
42
Sjogren-Larsson syndrome. ( 4190405 )
1970
43
Sjögren-Larsson syndrome in a Turkish family. ( 5345110 )
1969
44
The Sjogren-Larsson syndrome. ( 5302287 )
1968
45
Sjogren-Larsson syndrome and histidinemia: hereditary biochemical diseases with defects of speech and oral functions. ( 14001384 )
1963
46
Congenital ichthyosis, mental retardation and spasticity (Sjogren-Larsson syndrome). ( 14009718 )
1962
47
Oligophrenia in combination with congenital ichthyosis, spastic disorders and macular degeneration (Sjogren-Larsson syndrome). ( 13842646 )
1960

Variations for Sjogren-Larsson Syndrome

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

75 (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 225)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH3A2 NM_000382.2(ALDH3A2): c.521delT (p.Leu174Argfs) deletion Pathogenic rs387906254 GRCh37 Chromosome 17, 19559728: 19559728
2 ALDH3A2 NM_000382.2(ALDH3A2): c.521delT (p.Leu174Argfs) deletion Pathogenic rs387906254 GRCh38 Chromosome 17, 19656415: 19656415
3 ALDH3A2 NM_000382.2(ALDH3A2): c.809delG (p.Gly270Glufs) deletion Pathogenic rs387906255 GRCh37 Chromosome 17, 19564450: 19564450
4 ALDH3A2 NM_000382.2(ALDH3A2): c.809delG (p.Gly270Glufs) deletion Pathogenic rs387906255 GRCh38 Chromosome 17, 19661137: 19661137
5 ALDH3A2 NM_000382.2(ALDH3A2) indel Pathogenic rs730880264 GRCh37 Chromosome 17, 19566646: 19566648
6 ALDH3A2 NM_000382.2(ALDH3A2) indel Pathogenic rs730880264 GRCh38 Chromosome 17, 19663333: 19663335
7 ALDH3A2 NM_000382.2(ALDH3A2): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs72547564 GRCh37 Chromosome 17, 19559848: 19559848
8 ALDH3A2 NM_000382.2(ALDH3A2): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs72547564 GRCh38 Chromosome 17, 19656535: 19656535
9 ALDH3A2 NM_000382.2(ALDH3A2): c.943C> T (p.Pro315Ser) single nucleotide variant Pathogenic rs72547571 GRCh37 Chromosome 17, 19566648: 19566648
10 ALDH3A2 NM_000382.2(ALDH3A2): c.943C> T (p.Pro315Ser) single nucleotide variant Pathogenic rs72547571 GRCh38 Chromosome 17, 19663335: 19663335
11 ALDH3A2 NM_000382.2(ALDH3A2): c.1297_1298delGA (p.Glu433Argfs) deletion Pathogenic rs387906256 GRCh37 Chromosome 17, 19575123: 19575124
12 ALDH3A2 NM_000382.2(ALDH3A2): c.1297_1298delGA (p.Glu433Argfs) deletion Pathogenic rs387906256 GRCh38 Chromosome 17, 19671810: 19671811
13 ALDH3A2 NM_000382.2(ALDH3A2): c.1307_1311dupACAAA (p.Leu438Thrfs) duplication Pathogenic rs387906257 GRCh37 Chromosome 17, 19575133: 19575137
14 ALDH3A2 NM_000382.2(ALDH3A2): c.1307_1311dupACAAA (p.Leu438Thrfs) duplication Pathogenic rs387906257 GRCh38 Chromosome 17, 19671820: 19671824
15 ALDH3A2 NM_000382.2(ALDH3A2): c.798G> C (p.Lys266Asn) single nucleotide variant Likely pathogenic rs72547569 GRCh37 Chromosome 17, 19561175: 19561175
16 ALDH3A2 NM_000382.2(ALDH3A2): c.798G> C (p.Lys266Asn) single nucleotide variant Likely pathogenic rs72547569 GRCh38 Chromosome 17, 19657862: 19657862
17 ALDH3A2 NM_000382.2(ALDH3A2): c.1157A> G (p.Asn386Ser) single nucleotide variant Likely pathogenic rs72547575 GRCh37 Chromosome 17, 19568310: 19568310
18 ALDH3A2 NM_000382.2(ALDH3A2): c.1157A> G (p.Asn386Ser) single nucleotide variant Likely pathogenic rs72547575 GRCh38 Chromosome 17, 19664997: 19664997
19 ALDH3A2 NM_000382.2(ALDH3A2): c.28C> T (p.Gln10Ter) single nucleotide variant Likely pathogenic rs72547554 GRCh37 Chromosome 17, 19552312: 19552312
20 ALDH3A2 NM_000382.2(ALDH3A2): c.28C> T (p.Gln10Ter) single nucleotide variant Likely pathogenic rs72547554 GRCh38 Chromosome 17, 19648999: 19648999
21 ALDH3A2 NM_000382.2(ALDH3A2): c.471+1delG deletion Pathogenic/Likely pathogenic rs786204741 GRCh38 Chromosome 17, 19652633: 19652633
22 ALDH3A2 NM_000382.2(ALDH3A2): c.471+1delG deletion Pathogenic/Likely pathogenic rs786204741 GRCh37 Chromosome 17, 19555946: 19555946
23 ALDH3A2 NM_000382.2(ALDH3A2): c.551C> T (p.Thr184Met) single nucleotide variant Pathogenic/Likely pathogenic rs72547562 GRCh37 Chromosome 17, 19559758: 19559758
24 ALDH3A2 NM_000382.2(ALDH3A2): c.551C> T (p.Thr184Met) single nucleotide variant Pathogenic/Likely pathogenic rs72547562 GRCh38 Chromosome 17, 19656445: 19656445
25 ALDH3A2 NM_000382.2(ALDH3A2): c.798+5G> A single nucleotide variant Likely pathogenic rs786204677 GRCh37 Chromosome 17, 19561180: 19561180
26 ALDH3A2 NM_000382.2(ALDH3A2): c.798+5G> A single nucleotide variant Likely pathogenic rs786204677 GRCh38 Chromosome 17, 19657867: 19657867
27 ALDH3A2 NM_000382.2(ALDH3A2): c.901_903delGCTinsCC (p.Ala301Profs) indel Likely pathogenic rs786204759 GRCh37 Chromosome 17, 19564542: 19564544
28 ALDH3A2 NM_000382.2(ALDH3A2): c.901_903delGCTinsCC (p.Ala301Profs) indel Likely pathogenic rs786204759 GRCh38 Chromosome 17, 19661229: 19661231
29 ALDH3A2 NM_000382.2(ALDH3A2): c.1100delA (p.Asn367Thrfs) deletion Likely pathogenic rs786204625 GRCh37 Chromosome 17, 19566805: 19566805
30 ALDH3A2 NM_000382.2(ALDH3A2): c.1100delA (p.Asn367Thrfs) deletion Likely pathogenic rs786204625 GRCh38 Chromosome 17, 19663492: 19663492
31 ALDH3A2 NM_000382.2(ALDH3A2): c.529C> T (p.Arg177Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs72547561 GRCh37 Chromosome 17, 19559736: 19559736
32 ALDH3A2 NM_000382.2(ALDH3A2): c.529C> T (p.Arg177Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs72547561 GRCh38 Chromosome 17, 19656423: 19656423
33 ALDH3A2 NM_000382.2(ALDH3A2): c.733G> A (p.Asp245Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72547568 GRCh37 Chromosome 17, 19561110: 19561110
34 ALDH3A2 NM_000382.2(ALDH3A2): c.733G> A (p.Asp245Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72547568 GRCh38 Chromosome 17, 19657797: 19657797
35 ALDH3A2 NM_000382.2(ALDH3A2): c.574dupA (p.Ile192Asnfs) duplication Pathogenic/Likely pathogenic rs886041826 GRCh37 Chromosome 17, 19559781: 19559781
36 ALDH3A2 NM_000382.2(ALDH3A2): c.574dupA (p.Ile192Asnfs) duplication Pathogenic/Likely pathogenic rs886041826 GRCh38 Chromosome 17, 19656468: 19656468
37 ALDH3A2 NM_000382.2(ALDH3A2): c.1270C> T (p.Pro424Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61737992 GRCh37 Chromosome 17, 19575096: 19575096
38 ALDH3A2 NM_000382.2(ALDH3A2): c.1270C> T (p.Pro424Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61737992 GRCh38 Chromosome 17, 19671783: 19671783
39 ALDH3A2 NM_000382.2(ALDH3A2): c.-154G> A single nucleotide variant Likely benign rs562399103 GRCh38 Chromosome 17, 19648818: 19648818
40 ALDH3A2 NM_000382.2(ALDH3A2): c.-154G> A single nucleotide variant Likely benign rs562399103 GRCh37 Chromosome 17, 19552131: 19552131
41 ALDH3A2 NM_000382.2(ALDH3A2): c.-149C> G single nucleotide variant Uncertain significance rs557068998 GRCh38 Chromosome 17, 19648823: 19648823
42 ALDH3A2 NM_000382.2(ALDH3A2): c.-149C> G single nucleotide variant Uncertain significance rs557068998 GRCh37 Chromosome 17, 19552136: 19552136
43 ALDH3A2 NM_000382.2(ALDH3A2): c.-3G> A single nucleotide variant Uncertain significance rs562321928 GRCh38 Chromosome 17, 19648969: 19648969
44 ALDH3A2 NM_000382.2(ALDH3A2): c.-3G> A single nucleotide variant Uncertain significance rs562321928 GRCh37 Chromosome 17, 19552282: 19552282
45 ALDH3A2 NM_000382.2(ALDH3A2): c.563C> T (p.Ala188Val) single nucleotide variant Likely benign rs115977487 GRCh38 Chromosome 17, 19656457: 19656457
46 ALDH3A2 NM_000382.2(ALDH3A2): c.563C> T (p.Ala188Val) single nucleotide variant Likely benign rs115977487 GRCh37 Chromosome 17, 19559770: 19559770
47 ALDH3A2 NM_000382.2(ALDH3A2): c.566T> C (p.Val189Ala) single nucleotide variant Uncertain significance rs772457181 GRCh38 Chromosome 17, 19656460: 19656460
48 ALDH3A2 NM_000382.2(ALDH3A2): c.566T> C (p.Val189Ala) single nucleotide variant Uncertain significance rs772457181 GRCh37 Chromosome 17, 19559773: 19559773
49 ALDH3A2 NM_000382.2(ALDH3A2): c.680G> A (p.Arg227Lys) single nucleotide variant Uncertain significance rs886052687 GRCh38 Chromosome 17, 19656574: 19656574
50 ALDH3A2 NM_000382.2(ALDH3A2): c.680G> A (p.Arg227Lys) single nucleotide variant Uncertain significance rs886052687 GRCh37 Chromosome 17, 19559887: 19559887

Expression for Sjogren-Larsson Syndrome

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

Pathways for Sjogren-Larsson Syndrome

Pathways related to Sjogren-Larsson Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071

GO Terms for Sjogren-Larsson Syndrome

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 8.92 ALDH3A2 FA2H LPIN1 PNPLA6

Sources for Sjogren-Larsson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....