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MCID: SJG002
MIFTS: 51

Sjogren-Larsson Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases, Mental 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 57 38 12 53 25 37 13 55 44 15 73 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
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:

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: 34
Orphanet: 59  
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 : 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 sls, is related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and rud syndrome, and has symptoms including muscle spasticity, seizures and photophobia. 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 Glycerophospholipid biosynthesis. The drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include skin, retina and eye, and related phenotypes are intellectual disability and seizures

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 birth.... 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 all 44)
# Related Disease Score Top Affiliating Genes
1 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11.5
2 rud syndrome 11.4
3 senior-loken syndrome 1 11.3
4 spondylometaepiphyseal dysplasia, short limb-hand type 11.3
5 ichthyosis alopecia eclabion ectropion mental retardation 11.3
6 ichthyosis 10.3
7 ichthyosis lamellar 1 10.2
8 spasticity 10.2
9 histidinemia 10.1
10 asthma 10.1
11 macular degeneration, age-related, 1 10.1
12 immunodeficiency with hyper-igm, type 2 10.1
13 pneumonia 10.1
14 lung cancer 9.9
15 impotence 9.9
16 breast cancer 9.7
17 retinal detachment 9.7
18 scleroderma, familial progressive 9.7
19 small cell cancer of the lung 9.7
20 diastrophic dysplasia 9.7
21 leukemia, acute lymphoblastic 9.7
22 hyperprolactinemia 9.7
23 acute leukemia 9.7
24 diabetes mellitus 9.7
25 leukemia 9.7
26 tick-borne encephalitis 9.7
27 lymphoma 9.7
28 lymphoblastic leukemia 9.7
29 onchocerciasis 9.7
30 dementia 9.7
31 hypoactive sexual desire disorder 9.7
32 schistosomiasis 9.7
33 dermatitis 9.7
34 contact dermatitis 9.7
35 interstitial lung disease 9.7
36 rhabdomyosarcoma 9.7
37 retinitis 9.7
38 lung disease 9.7
39 encephalitis 9.7
40 collagenopathy type 2 alpha 1 9.7
41 spastic paraplegia 73, autosomal dominant 9.7 FA2H PNPLA6
42 polyneuropathy 9.6 ABHD12 PNPLA6
43 spastic paraplegia 76, autosomal recessive 9.6 FA2H PNPLA6
44 paraplegia 9.2 FA2H PNPLA6

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



Diseases related to Sjogren-Larsson Syndrome
Sources

Symptoms & Phenotypes for Sjogren-Larsson Syndrome

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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 32)
# 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 abnormal pyramidal signs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
9 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
10 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
11 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
12 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
13 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
14 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
15 retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000488
16 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
17 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
18 corneal erosion 59 32 frequent (33%) Frequent (79-30%) HP:0200020
19 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
20 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
21 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
22 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
23 macular degeneration 59 32 frequent (33%) Frequent (79-30%) HP:0000608
24 urticaria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001025
25 inflammatory abnormality of the eye 59 32 frequent (33%) Frequent (79-30%) HP:0100533
26 generalized hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007440
27 spastic diplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001264
28 neurological speech impairment 59 Frequent (79-30%)
29 thoracic kyphosis 32 HP:0002942
30 hypoplasia of dental enamel 32 HP:0006297
31 cns demyelination 32 HP:0007305
32 opacification of the corneal epithelium 32 HP:0007727

UMLS symptoms related to Sjogren-Larsson Syndrome:


muscle spasticity, seizures, photophobia

MGI Mouse Phenotypes related to Sjogren-Larsson Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 ABHD12 ALDH3A2 FA2H LPIN1 PNPLA6 SKAP2
2 integument MP:0010771 9.26 LPIN1 PNPLA6 ALDH3A2 FA2H
3 nervous system MP:0003631 9.02 ABHD12 ALDH3A2 FA2H 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 A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS) Recruiting NCT03445650 Phase 3 ADX-102 1% Topical Dermal Cream;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

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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 29 ALDH3A2
Sources

Anatomical Context for Sjogren-Larsson Syndrome

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MalaCards organs/tissues related to Sjogren-Larsson Syndrome:

41
Skin, Retina, Eye
Sources

Publications for Sjogren-Larsson Syndrome

About this section

Articles related to Sjogren-Larsson Syndrome:

(show all 30)
# Title Authors Year
1
OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME. ( 28301413 )
2017
2
Sjogren-Larsson syndrome: A rare neurocutaneous disorder. ( 27195039 )
2016
3
A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma. ( 27462357 )
2016
4
Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome. ( 28471629 )
2016
5
Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. ( 23034980 )
2013
6
The Sjogren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway. ( 22633490 )
2012
7
Sjogren-Larsson syndrome. ( 22411255 )
2012
8
Sjogren-Larsson syndrome: A case report of a rare disease. ( 23130213 )
2011
9
Do you know this syndrome? Sjogren-Larsson syndrome. ( 21308331 )
2010
10
Sjogren-larsson syndrome: case report and review of neurologic abnormalities and ichthyosis. ( 19901712 )
2009
11
Typical neuroradiological features of sjogren-larsson syndrome. A case report. ( 24207035 )
2009
12
Ocular features of Sjogren-Larsson syndrome. ( 17300584 )
2007
13
Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome. ( 15834613 )
2005
14
Sjogren-Larsson syndrome: report of two cases. ( 17642579 )
2004
15
[Sjogren-Larsson syndrome: two cases with delayed diagnosis]. ( 12218895 )
2002
16
Sjogren-Larsson syndrome. ( 11929038 )
2002
17
Sjogren - Larsson Syndrome: a case report. ( 12391475 )
2002
18
Mutations associated with Sjogren-Larsson syndrome. ( 9250352 )
1997
19
A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden. ( 9254849 )
1997
20
Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. ( 8528251 )
1996
21
Sjogren-Larsson syndrome. ( 8855639 )
1996
22
The Sjogren-Larsson syndrome in a north Indian sibship. ( 1937621 )
1991
23
Cranial CT in the Sjogren-Larsson syndrome. ( 3431701 )
1987
24
Sjogren-Larsson syndrome. ( 3804430 )
1986
25
Sjogren-Larsson syndrome (dizygotic twins). ( 560199 )
1977
26
Sjogren-Larsson syndrome. ( 4190405 )
1970
27
The Sjogren-Larsson syndrome. ( 5302287 )
1968
28
Sjogren-Larsson syndrome and histidinemia: hereditary biochemical diseases with defects of speech and oral functions. ( 14001384 )
1963
29
Congenital ichthyosis, mental retardation and spasticity (Sjogren-Larsson syndrome). ( 14009718 )
1962
30
Oligophrenia in combination with congenital ichthyosis, spastic disorders and macular degeneration (Sjogren-Larsson syndrome). ( 13842646 )
1960
Sources

Variations for Sjogren-Larsson Syndrome

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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 173)
# 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 GRCh38 Chromosome 17, 19663333: 19663335
6 ALDH3A2 NM_000382.2(ALDH3A2) indel Pathogenic rs730880264 GRCh37 Chromosome 17, 19566646: 19566648
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 Pathogenic rs72547575 GRCh37 Chromosome 17, 19568310: 19568310
18 ALDH3A2 NM_000382.2(ALDH3A2): c.1157A> G (p.Asn386Ser) single nucleotide variant 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 rs72547568 GRCh37 Chromosome 17, 19561110: 19561110
34 ALDH3A2 NM_000382.2(ALDH3A2): c.733G> A (p.Asp245Asn) single nucleotide variant 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.*1256C> G single nucleotide variant Likely benign rs76969741 GRCh38 Chromosome 17, 19676828: 19676828
48 ALDH3A2 NM_000382.2(ALDH3A2): c.566T> C (p.Val189Ala) single nucleotide variant Uncertain significance rs772457181 GRCh38 Chromosome 17, 19656460: 19656460
49 ALDH3A2 NM_000382.2(ALDH3A2): c.566T> C (p.Val189Ala) single nucleotide variant Uncertain significance rs772457181 GRCh37 Chromosome 17, 19559773: 19559773
50 ALDH3A2 NM_000382.2(ALDH3A2): c.680G> A (p.Arg227Lys) single nucleotide variant Uncertain significance rs886052687 GRCh38 Chromosome 17, 19656574: 19656574
Sources

Expression for Sjogren-Larsson Syndrome

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

Pathways for Sjogren-Larsson Syndrome

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Pathways related to Sjogren-Larsson Syndrome according to KEGG:

37
# 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
Glycerophospholipid biosynthesis 66
Show member pathways
 11.87 LPIN1 PNPLA6 TAZ
2
Glycerolipid metabolism 37
10.41 ALDH3A2 LPIN1
Sources

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 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 lipid metabolic process GO:0006629 9.43 FA2H LPIN1 PNPLA6
2 metabolic process GO:0008152 9.33 ALDH3A2 PNPLA6 TAZ
3 fatty acid metabolic process GO:0006631 9.32 FA2H LPIN1
4 sphingolipid biosynthetic process GO:0030148 8.96 ALDH3A2 FA2H
5 glycerophospholipid catabolic process GO:0046475 8.62 ABHD12 PNPLA6

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

# Name GO ID Score Top Affiliating Genes
1 lysophospholipase activity GO:0004622 8.62 ABHD12 PNPLA6
Sources

Sources for Sjogren-Larsson Syndrome

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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
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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