MCID: SJG002
MIFTS: 52

Sjogren-Larsson Syndrome

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

Aliases & Classifications for Sjogren-Larsson Syndrome

MalaCards integrated aliases for Sjogren-Larsson Syndrome:

Name: Sjogren-Larsson Syndrome 53 37 12 49 24 36 13 51 41 14 69 49 24 55 28
Sls 53 49 24 71
Fatty Aldehyde Dehydrogenase Deficiency 53 49 24
Faldh Deficiency 53 49 24
Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia 53 49
Sjogren Larsson Syndrome 12 49
Congenital Icthyosis Mental Retardation Spasticity Syndrome 24
Fatty Alcohol:nad+ Oxidoreductase Deficiency 53
Fatty Acid Alcohol Oxidoreductase Deficiency 55
Ichthyosis Oligophrenia Syndrome 24
Sjogren-Larsson's Syndrome 12
Sjoegren-Larsson Syndrome 71
Fadh Deficiency 49
Fao Deficiency 49

Characteristics:

Orphanet epidemiological data:

55
sjögren-larsson syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
sjogren-larsson syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sjogren-Larsson Syndrome

UniProtKB/Swiss-Prot : 71 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 spondylometaepiphyseal dysplasia, short limb-hand type and polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, and has symptoms including seizures, photophobia and joint stiffness. 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 behavior/neurological and integument

NIH Rare Diseases : 49 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. Last updated: 9/21/2012

OMIM : 53 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 : 72 Sjögren–Larsson syndrome (SLS) is an autosomal recessive form of ichthyosis apparent at birth.... 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 all 49)
# Related Disease Score Top Affiliating Genes
1 spondylometaepiphyseal dysplasia, short limb-hand type 11.6
2 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11.5
3 senior-loken syndrome 1 11.3
4 ichthyosis alopecia eclabion ectropion mental retardation 11.3
5 rud syndrome 11.3
6 ichthyosis 10.3
7 ichthyosis lamellar 1 10.2
8 spasticity 10.2
9 histidinemia 10.0
10 asthma 10.0
11 macular degeneration, age-related, 1 10.0
12 immunodeficiency with hyper-igm, type 2 10.0
13 pneumonia 10.0
14 lung cancer 9.8
15 leukemia 9.8
16 polyneuropathy 9.8 ABHD12 PNPLA6
17 retinal detachment 9.7
18 small cell cancer of the lung 9.7
19 diastrophic dysplasia 9.7
20 body mass index quantitative trait locus 11 9.7
21 retinoschisis 1, x-linked, juvenile 9.7
22 body mass index quantitative trait locus 9 9.7
23 body mass index quantitative trait locus 8 9.7
24 body mass index quantitative trait locus 4 9.7
25 body mass index quantitative trait locus 10 9.7
26 body mass index quantitative trait locus 7 9.7
27 body mass index quantitative trait locus 12 9.7
28 body mass index quantitative trait locus 14 9.7
29 body mass index quantitative trait locus 18 9.7
30 hyperprolactinemia 9.7
31 acute leukemia 9.7
32 diabetes mellitus 9.7
33 tick-borne encephalitis 9.7
34 lymphoma 9.7
35 lymphoblastic leukemia 9.7
36 onchocerciasis 9.7
37 dementia 9.7
38 hypoactive sexual desire disorder 9.7
39 schistosomiasis 9.7
40 impotence 9.7
41 dermatitis 9.7
42 contact dermatitis 9.7
43 rhabdomyosarcoma 9.7
44 retinitis 9.7
45 encephalitis 9.7
46 collagenopathy type 2 alpha 1 9.7
47 reunion island larsen syndrome 9.7
48 paraplegia 9.7 FA2H PNPLA6
49 hereditary spastic paraplegia 9.5 FA2H PNPLA6

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:

53
Neurologic Central Nervous System:
seizures
spasticity
mental retardation
demyelination in central white matter

Growth Height:
short stature

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

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

55 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
2 photophobia 55 31 frequent (33%) Frequent (79-30%) HP:0000613
3 joint stiffness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001387
4 abnormal pyramidal signs 55 31 hallmark (90%) Very frequent (99-80%) HP:0007256
5 dry skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000958
6 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
7 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
8 spasticity 55 31 Very frequent (99-80%) HP:0001257
9 dysarthria 55 31 frequent (33%) Frequent (79-30%) HP:0001260
10 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
11 kyphosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002808
12 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002652
13 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
14 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
15 abnormality of retinal pigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0007703
16 ichthyosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008064
17 retinopathy 55 31 frequent (33%) Frequent (79-30%) HP:0000488
18 hyperkeratosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000962
19 corneal erosion 55 31 frequent (33%) Frequent (79-30%) HP:0200020
20 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
21 abnormality of dental enamel 55 31 occasional (7.5%) Occasional (29-5%) HP:0000682
22 erythema 55 31 hallmark (90%) Very frequent (99-80%) HP:0010783
23 macular degeneration 55 31 frequent (33%) Frequent (79-30%) HP:0000608
24 urticaria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001025
25 inflammatory abnormality of the eye 55 31 frequent (33%) Frequent (79-30%) HP:0100533
26 generalized hyperpigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0007440
27 spastic diplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001264
28 neurological speech impairment 55 Frequent (79-30%)
29 thoracic kyphosis 31 HP:0002942
30 hypoplasia of dental enamel 31 HP:0006297
31 cns demyelination 31 HP:0007305
32 opacification of the corneal epithelium 31 HP:0007727

UMLS symptoms related to Sjogren-Larsson Syndrome:


photophobia, seizures, muscle spasticity

MGI Mouse Phenotypes related to Sjogren-Larsson Syndrome:

43
# 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 ALDH3A2 FA2H LPIN1 PNPLA6
3 nervous system MP:0003631 9.02 LPIN1 PNPLA6 ABHD12 ALDH3A2 FA2H

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 A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS) Not yet 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

Genetic Tests for Sjogren-Larsson Syndrome

Genetic tests related to Sjogren-Larsson Syndrome:

# Genetic test Affiliating Genes
1 Sjögren-Larsson Syndrome 28 ALDH3A2

Anatomical Context for Sjogren-Larsson Syndrome

MalaCards organs/tissues related to Sjogren-Larsson Syndrome:

38
Skin, Retina, Eye

Publications for Sjogren-Larsson Syndrome

Articles related to Sjogren-Larsson Syndrome:

(show all 30)
# Title Authors Year
1
OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME. ( 28301413 )
2017
2
A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma. ( 27462357 )
2016
3
Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome. ( 28471629 )
2016
4
Sjogren-Larsson syndrome: A rare neurocutaneous disorder. ( 27195039 )
2016
5
Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. ( 23034980 )
2013
6
Sjogren-Larsson syndrome. ( 22411255 )
2012
7
The Sjogren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway. ( 22633490 )
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
Typical neuroradiological features of sjogren-larsson syndrome. A case report. ( 24207035 )
2009
11
Sjogren-larsson syndrome: case report and review of neurologic abnormalities and ichthyosis. ( 19901712 )
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
A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden. ( 9254849 )
1997
19
Mutations associated with Sjogren-Larsson syndrome. ( 9250352 )
1997
20
Sjogren-Larsson syndrome. ( 8855639 )
1996
21
Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. ( 8528251 )
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

Variations for Sjogren-Larsson Syndrome

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

71 (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 all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH3A2 NM_000382.2(ALDH3A2): c.28C> T (p.Gln10Ter) single nucleotide variant Likely pathogenic rs72547554 GRCh37 Chromosome 17, 19552312: 19552312
2 ALDH3A2 NM_000382.2(ALDH3A2): c.471+1delG deletion Likely pathogenic rs786204741 GRCh37 Chromosome 17, 19555946: 19555946
3 ALDH3A2 NM_000382.2(ALDH3A2): c.551C> T (p.Thr184Met) single nucleotide variant Pathogenic/Likely pathogenic rs72547562 GRCh37 Chromosome 17, 19559758: 19559758
4 ALDH3A2 NM_000382.2(ALDH3A2): c.798+5G> A single nucleotide variant Likely pathogenic rs786204677 GRCh37 Chromosome 17, 19561180: 19561180
5 ALDH3A2 NM_000382.2(ALDH3A2): c.901_903delGCTinsCC (p.Ala301Profs) indel Likely pathogenic rs786204759 GRCh37 Chromosome 17, 19564542: 19564544
6 ALDH3A2 NM_000382.2(ALDH3A2): c.1100delA (p.Asn367Thrfs) deletion Likely pathogenic rs786204625 GRCh37 Chromosome 17, 19566805: 19566805
7 ALDH3A2 NM_000382.2(ALDH3A2): c.521delT (p.Leu174Argfs) deletion Pathogenic rs387906254 GRCh37 Chromosome 17, 19559728: 19559728
8 ALDH3A2 NM_000382.2(ALDH3A2): c.809delG (p.Gly270Glufs) deletion Pathogenic rs387906255 GRCh37 Chromosome 17, 19564450: 19564450
9 ALDH3A2 NM_000382.2(ALDH3A2) indel Pathogenic rs730880264 GRCh37 Chromosome 17, 19566646: 19566648
10 ALDH3A2 NM_000382.2(ALDH3A2): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs72547564 GRCh37 Chromosome 17, 19559848: 19559848
11 ALDH3A2 NM_000382.2(ALDH3A2): c.943C> T (p.Pro315Ser) single nucleotide variant Pathogenic rs72547571 GRCh37 Chromosome 17, 19566648: 19566648
12 ALDH3A2 NM_000382.2(ALDH3A2): c.1297_1298delGA (p.Glu433Argfs) deletion Pathogenic rs387906256 GRCh37 Chromosome 17, 19575123: 19575124
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.798G> C (p.Lys266Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72547569 GRCh37 Chromosome 17, 19561175: 19561175
15 ALDH3A2 NM_000382.2(ALDH3A2): c.1157A> G (p.Asn386Ser) single nucleotide variant Pathogenic rs72547575 GRCh37 Chromosome 17, 19568310: 19568310
16 ALDH3A2 NM_000382.2(ALDH3A2): c.733G> A (p.Asp245Asn) single nucleotide variant Pathogenic rs72547568 GRCh38 Chromosome 17, 19657797: 19657797
17 ALDH3A2 NM_000382.2(ALDH3A2): c.574dupA (p.Ile192Asnfs) duplication Pathogenic/Likely pathogenic rs886041826 GRCh37 Chromosome 17, 19559781: 19559781
18 ALDH3A2 NM_000382.2(ALDH3A2): c.25_50del26 (p.Arg9Alafs) deletion Pathogenic/Likely pathogenic rs1057517010 GRCh37 Chromosome 17, 19552309: 19552334
19 ALDH3A2 NM_000382.2(ALDH3A2): c.151_152delAA (p.Lys51Glufs) deletion Likely pathogenic rs1057517403 GRCh37 Chromosome 17, 19552435: 19552436
20 ALDH3A2 NM_000382.2(ALDH3A2): c.153+2T> G single nucleotide variant Likely pathogenic rs1057516863 GRCh37 Chromosome 17, 19552439: 19552439
21 ALDH3A2 NM_000382.2(ALDH3A2): c.231delA (p.Glu77Aspfs) deletion Likely pathogenic rs1057516386 GRCh37 Chromosome 17, 19554937: 19554937
22 ALDH3A2 NM_000382.2(ALDH3A2): c.234G> A (p.Trp78Ter) single nucleotide variant Likely pathogenic rs759874793 GRCh38 Chromosome 17, 19651627: 19651627
23 ALDH3A2 NM_000382.2(ALDH3A2): c.281dupA (p.Ala95Glyfs) duplication Likely pathogenic rs1057516481 GRCh38 Chromosome 17, 19651674: 19651674
24 ALDH3A2 NM_000382.2(ALDH3A2): c.577delG (p.Val193Serfs) deletion Likely pathogenic rs1057516851 GRCh37 Chromosome 17, 19559784: 19559784
25 ALDH3A2 NM_000382.2(ALDH3A2): c.769dupA (p.Ile257Asnfs) duplication Likely pathogenic rs1057517190 GRCh37 Chromosome 17, 19561146: 19561146
26 ALDH3A2 NM_000382.2(ALDH3A2): c.798+1G> A single nucleotide variant Likely pathogenic rs1057517278 GRCh38 Chromosome 17, 19657863: 19657863
27 ALDH3A2 NM_000382.2(ALDH3A2): c.798+1_798+6del6 deletion Likely pathogenic rs1057517352 GRCh37 Chromosome 17, 19561176: 19561181
28 ALDH3A2 NM_000382.2(ALDH3A2): c.798+1delG deletion Pathogenic rs1057517080 GRCh37 Chromosome 17, 19561176: 19561176
29 ALDH3A2 NM_000382.2(ALDH3A2): c.824_825delAG (p.Glu275Valfs) deletion Likely pathogenic rs1057516788 GRCh38 Chromosome 17, 19661152: 19661153
30 ALDH3A2 NM_000382.2(ALDH3A2): c.1094C> T (p.Ser365Leu) single nucleotide variant Likely pathogenic rs72547573 GRCh38 Chromosome 17, 19663486: 19663486
31 ALDH3A2 NM_000382.2(ALDH3A2): c.1108-2A> G single nucleotide variant Likely pathogenic rs1057516742 GRCh38 Chromosome 17, 19664946: 19664946
32 ALDH3A2 NM_000382.2(ALDH3A2): c.1108-1G> C single nucleotide variant Pathogenic rs1036733598 GRCh38 Chromosome 17, 19664947: 19664947
33 ALDH3A2 NM_000382.2(ALDH3A2): c.1108-1G> T single nucleotide variant Likely pathogenic rs1036733598 GRCh38 Chromosome 17, 19664947: 19664947
34 ALDH3A2 NM_000382.2(ALDH3A2): c.1302dupT (p.Ala435Cysfs) duplication Likely pathogenic rs1057517299 GRCh38 Chromosome 17, 19671815: 19671815
35 ALDH3A2 NM_000382.2(ALDH3A2): c.1444-1G> T single nucleotide variant Likely pathogenic rs1057517004 GRCh37 Chromosome 17, 19578870: 19578870
36 ALDH3A2 NM_000382.2(ALDH3A2): c.103C> T (p.Gln35Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 19649074: 19649074
37 ALDH3A2 NM_000382.2(ALDH3A2): c.370_372delGGA (p.Gly124del) deletion Pathogenic GRCh38 Chromosome 17, 19651763: 19651765
38 ALDH3A2 NM_000382.2(ALDH3A2): c.631A> G (p.Lys211Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 19559838: 19559838

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:

36
# 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 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 for Sjogren-Larsson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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