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SLS
MCID: SJG002
MIFTS: 53

Sjogren-Larsson Syndrome (SLS)

Categories: Eye diseases, Genetic 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 57 12 73 20 43 58 36 13 54 44 15 70
Sjögren-Larsson Syndrome 73 20 43 29 6
Sls 57 12 20 43 72
Faldh Deficiency 57 12 20 43
Fatty Aldehyde Dehydrogenase Deficiency 57 20 43
Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia 57 20
Fatty Acid Alcohol Oxidoreductase Deficiency 12 58
Sjogren Larsson Syndrome 12 20
Congenital Icthyosis Mental Retardation Spasticity Syndrome 43
Fatty Alcohol:nad+ Oxidoreductase Deficiency 57
Ichthyosis Oligophrenia Syndrome 43
Sjogren-Larsson's Syndrome 12
Sjoegren-Larsson Syndrome 72
Syndrome, Sjogren-Larsson 39
Fadh Deficiency 20
Fao Deficiency 20

Characteristics:

Orphanet epidemiological data:

58
sjogren-larsson syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


Sources

Summaries for Sjogren-Larsson Syndrome

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MedlinePlus Genetics : 43 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.Affected infants tend to be born prematurely. At birth the skin is red (erythema), but later in infancy the skin becomes dry, rough, and scaly with a brownish or yellowish tone. Mild to severe itchiness (pruritus) is also common. These skin abnormalities are generally dispersed over the whole body, most severely affecting the nape of the neck, the torso, and the extremities. The skin of the face is usually not affected.People with this condition may also have neurological signs and symptoms. Most affected individuals have leukoencephalopathy, which is a change in a type of brain tissue called white matter. White matter consists of nerve fibers covered by a substance (myelin) that insulates and protects the nerves. The leukoencephalopathy is thought to contribute to many of the neurological signs and symptoms in people with Sjögren-Larsson syndrome. Most affected individuals have intellectual disability that varies from mild to profound and is usually apparent by early childhood. People with Sjögren-Larsson syndrome have speech difficulties (dysarthria) and delayed speech. Usually they are able to produce only short sentences with poorly formed words. Rarely, people with this condition have normal intelligence. In addition, approximately 40 percent of people with Sjögren-Larsson syndrome have seizures.Children with this condition often experience delayed development of motor skills (such as crawling and walking) due to abnormal muscle stiffness (spasticity) that is typically in their legs and, less commonly, also in their arms. About one-half of people with Sjögren-Larsson syndrome require wheelchair assistance and many others need some form of support to walk.Affected individuals have tiny crystals in the light-sensitive tissue at the back of the eye (retina) that can be seen during an eye exam. Based on their appearance, these retinal crystals are often called glistening white dots. These white dots are usually apparent by early childhood, and it is unclear if they affect normal vision. People with Sjögren-Larsson syndrome may also have nearsightedness (myopia) or an increased sensitivity to light (photophobia).

MalaCards based summary : Sjogren-Larsson Syndrome, also known as sjögren-larsson syndrome, is related to spastic cerebral palsy 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 Histidine 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 abnormal pyramidal sign

Disease Ontology : 12 A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.

GARD : 20 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) (Updated 20-May-2021)

KEGG : 36 Sjogren-Larsson syndrome is an autosomal recessive neurocutaneous disorder caused by deficiency of microsomal fatty aldehyde dehydrogenase in fatty alcohol metabolism and characterized by congenital ichthyosis.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Sjögren-Larsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms. It... more...

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Related Diseases for Sjogren-Larsson Syndrome

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

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 spastic cerebral palsy 30.2 ELOVL4 ALDH3A2
2 rud syndrome 11.4
3 senior-loken syndrome 1 11.3
4 ichthyosis alopecia eclabion ectropion intellectual disability 11.2
5 ichthyosis 10.7
6 spastic diplegia 10.7
7 ifap syndrome 2 10.6
8 quadriplegia 10.5
9 spasticity 10.4
10 alacrima, achalasia, and mental retardation syndrome 10.4
11 autosomal recessive disease 10.4
12 papilloma 10.4
13 contact dermatitis 10.3
14 irritant dermatitis 10.3
15 astigmatism 10.3
16 hereditary spastic paraplegia 10.3
17 systemic scleroderma 10.3
18 spastic diplegia and mental retardation 10.2
19 macular degeneration, age-related, 1 10.2
20 paraplegia 10.2
21 scleroderma, familial progressive 10.2
22 pinguecula 10.2 KRT14 ALDH3A1
23 ichthyosis vulgaris 10.2
24 myopia 10.2
25 demyelinating disease 10.2
26 retinal degeneration 10.2
27 learning disability 10.2
28 rare systemic disease 10.2
29 gamma-amino butyric acid metabolism disorder 10.2 ALDH4A1 ALDH3A2
30 progressive relapsing multiple sclerosis 10.1 PRB1 DEGS2
31 hyperprolinemia 10.1 ALDH4A1 ALDH3A2 ALDH3A1
32 dowling-degos disease 1 10.1
33 histidinemia 10.1
34 ataxia and polyneuropathy, adult-onset 10.1
35 asthma 10.1
36 autosomal recessive congenital ichthyosis 10.1
37 neuroretinitis 10.1
38 spastic quadriplegia 10.1
39 periventricular leukomalacia 10.1
40 keratosis 10.1
41 hypogonadism 10.1
42 cerebral palsy 10.1
43 retinitis 10.1
44 dystonia 10.1
45 pneumonia 10.1
46 dwarfism 10.1
47 erythrokeratoderma ''en cocardes'' 10.1
48 spastic paraparesis 10.1
49 cerebral atrophy 10.1
50 dysphagia 10.1

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:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
3 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
4 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
5 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
6 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
7 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
8 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
9 spastic diplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001264
10 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
11 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
12 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
13 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
14 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
15 generalized hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007440
16 inflammatory abnormality of the eye 58 31 frequent (33%) Frequent (79-30%) HP:0100533
17 corneal erosion 58 31 frequent (33%) Frequent (79-30%) HP:0200020
18 macular degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0000608
19 seizure 31 frequent (33%) HP:0001250
20 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
21 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
22 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
23 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
24 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
25 urticaria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001025
26 hypotonia 31 occasional (7.5%) HP:0001252
27 spasticity 58 31 Very frequent (99-80%) HP:0001257
28 seizures 58 Frequent (79-30%)
29 neurological speech impairment 58 Frequent (79-30%)
30 muscular hypotonia 58 Occasional (29-5%)
31 hypoplasia of dental enamel 31 HP:0006297
32 thoracic kyphosis 31 HP:0002942
33 retinal pigment epithelial atrophy 31 HP:0007722
34 retinal thinning 31 HP:0030329
35 cns demyelination 31 HP:0007305
36 opacification of the corneal epithelium 31 HP:0007727

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Sjogren-Larsson Syndrome:


seizures; photophobia; muscle spasticity
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 Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Trial to Evaluate the Safety and Efficacy of ADX-102 1% Topical Dermal Cream (Reproxalap) in Subjects With Sjögren-Larsson Syndrome (SLS) Completed NCT03445650 Phase 3 ADX-102 1% Topical Dermal Cream (reproxalap);Vehicle of ADX-102 Topical Dermal Cream
2 Phase II Study of the Safety, Pharmacokinetics, and Exploratory Activity of Once Daily (QD) Topical Application of NS2 Cream to Treat Ichthyosis in Subjects With 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: A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers Active, not 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:

40
Skin, Eye, Retina, Lung, Bone, Heart, Brain
Sources

Publications for Sjogren-Larsson Syndrome

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Articles related to Sjogren-Larsson Syndrome:

(show top 50) (show all 379)
# Title Authors PMID Year
1
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. 6 54 57 61
9829906 1998
2
Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene. 61 6 54
16536828 2006
3
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). 6 54 61
15931689 2005
4
Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2. 6 61 54
15241804 2004
5
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. 6 61 54
11408337 2001
6
Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome. 57 54 61
11124298 2000
7
A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome. 54 61 6
10792573 2000
8
The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. 6 61 54
10577908 1999
9
A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden. 6 54 61
9254849 1997
10
Mutations associated with Sjögren-Larsson syndrome. 6 61 54
9250352 1997
11
Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). 54 57 61
9027499 1997
12
Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran. 6 61
29183715 2018
13
Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome. 61 6
29071827 2018
14
Child Neurology: Sjögren-Larsson syndrome. 61 6
28025403 2017
15
Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome. 6 61
28257279 2017
16
Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome. 61 6
28471629 2016
17
Segmentation of Retinal Layers in Sjögren-Larsson Syndrome. 57 61
25784589 2015
18
Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis. 61 6
25855245 2015
19
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase. 6 61
25047030 2014
20
Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome. 6 61
23450279 2013
21
Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort. 6 61
21872273 2012
22
Sjögren-larsson syndrome. 61 6
21968182 2011
23
Altered lipid profiles in the stratum corneum of Sjögren-Larsson syndrome. 6 61
21531120 2011
24
Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. 61 6
20049467 2010
25
Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal. 61 6
19965611 2010
26
Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry. 61 6
19124283 2009
27
Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients. 61 6
19197545 2009
28
Sjögren-larsson syndrome and crystalline maculopathy associated with a novel mutation. 6 61
17998529 2007
29
Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome. 61 6
18035827 2007
30
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome. 61 6
17902024 2007
31
Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren-Larsson syndrome. 61 6
16837225 2006
32
Sjögren-Larsson syndrome: a case report and literature review. 61 6
16903323 2006
33
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome. 57 61
16476818 2006
34
RNA-based mutation screening in German families with Sjögren-Larsson syndrome. 61 6
10854114 2000
35
Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients. 6 61
10384396 1999
36
First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome. 61 6
9467812 1997
37
Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients. 6 61
9204959 1997
38
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. 6 61
8528251 1996
39
Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins. 57 61
7485163 1995
40
The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. 57 61
7894487 1994
41
Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts. 61 57
1939650 1991
42
Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyoses. 61 57
1770787 1991
43
Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle. 61 57
2666627 1989
44
Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. 61 57
3343337 1988
45
Prenatal diagnosis of Sjögren-Larsson syndrome. 61 57
7143181 1982
46
Ichthyosis in the Sjögren-Larsson syndrome. 57 61
6179662 1982
47
Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study. 61 57
7273467 1981
48
Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients. 57 61
7415820 1980
49
Dermatoglyphic patterns in the Sjögren-Larsson syndrome. 57 61
7363498 1980
50
Sjögren-Larsson syndrome. Diversity of cutaneous manifestations. 61 57
4109276 1971
Sources

Variations for Sjogren-Larsson Syndrome

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ClinVar genetic disease variations for Sjogren-Larsson Syndrome:

6 (show top 50) (show all 169)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALDH3A2 NM_000382.3(ALDH3A2):c.521del (p.Leu174fs) Deletion Pathogenic 1636 GRCh37: 17:19559728-19559728
GRCh38: 17:19656415-19656415
2 ALDH3A2 NM_000382.3(ALDH3A2):c.809del (p.Gly270fs) Deletion Pathogenic 1637 GRCh37: 17:19564449-19564449
GRCh38: 17:19661136-19661136
3 ALDH3A2 NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla) Indel Pathogenic 1638 GRCh37: 17:19566646-19566648
GRCh38: 17:19663333-19663335
4 ALDH3A2 NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr) SNV Pathogenic 1639 GRCh37: 17:19559848-19559848
GRCh38: 17:19656535-19656535
5 ALDH3A2 NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) Duplication Pathogenic 1642 rs387906257 GRCh37: 17:19575131-19575132
GRCh38: 17:19671818-19671819
6 ALDH3A2 NM_000382.3(ALDH3A2):c.103C>T (p.Gln35Ter) SNV Pathogenic 438265 GRCh37: 17:19552387-19552387
GRCh38: 17:19649074-19649074
7 ALDH3A2 NM_000382.3(ALDH3A2):c.631A>G (p.Lys211Glu) SNV Pathogenic 438262 GRCh37: 17:19559838-19559838
GRCh38: 17:19656525-19656525
8 ALDH3A2 NM_000382.3(ALDH3A2):c.371_373del (p.Gly124del) Deletion Pathogenic 438263 GRCh37: 17:19555075-19555077
GRCh38: 17:19651762-19651764
9 ALDH3A2 NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter) SNV Pathogenic 623290 GRCh37: 17:19564478-19564478
GRCh38: 17:19661165-19661165
10 ALDH3A2 NM_000382.3(ALDH3A2):c.946del (p.Thr316fs) Deletion Pathogenic 803334 GRCh37: 17:19566650-19566650
GRCh38: 17:19663337-19663337
11 ALDH3A2 NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter) SNV Pathogenic 816625 GRCh37: 17:19552334-19552334
GRCh38: 17:19649021-19649021
12 ALDH3A2 NM_000382.3(ALDH3A2):c.471+1G>C SNV Pathogenic 977702 GRCh37: 17:19555946-19555946
GRCh38: 17:19652633-19652633
13 ALDH3A2 NM_000382.3(ALDH3A2):c.1108-1G>C SNV Pathogenic 370452 GRCh37: 17:19568260-19568260
GRCh38: 17:19664947-19664947
14 ALDH3A2 NM_000382.2(ALDH3A2):c.153+5_386-408delins19 Indel Pathogenic 495851 GRCh37:
GRCh38: 17:19649129-19652139
15 ALDH3A2 NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) SNV Pathogenic 1643 rs72547569 GRCh37: 17:19561175-19561175
GRCh38: 17:19657862-19657862
16 ALDH3A2 NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter) SNV Pathogenic 619024 rs1567607328 GRCh37: 17:19575135-19575135
GRCh38: 17:19671822-19671822
17 ALDH3A2 NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) SNV Pathogenic 438264 rs72547568 GRCh37: 17:19561110-19561110
GRCh38: 17:19657797-19657797
18 ALDH3A2 NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) SNV Pathogenic 265459 rs72547568 GRCh37: 17:19561110-19561110
GRCh38: 17:19657797-19657797
19 ALDH3A2 NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) SNV Pathogenic 1640 rs72547571 GRCh37: 17:19566648-19566648
GRCh38: 17:19663335-19663335
20 ALDH3A2 NM_000382.3(ALDH3A2):c.1293_1294GA[2] (p.Glu433fs) Microsatellite Pathogenic 1641 rs387906256 GRCh37: 17:19575118-19575119
GRCh38: 17:19671805-19671806
21 ALDH3A2 NM_000382.3(ALDH3A2):c.798+1del Deletion Pathogenic 371195 GRCh37: 17:19561175-19561175
GRCh38: 17:19657862-19657862
22 ALDH3A2 NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs) Deletion Pathogenic 495850 GRCh37: 17:19575116-19575117
GRCh38: 17:19671803-19671804
23 ALDH3A2 NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) Deletion Pathogenic/Likely pathogenic 371103 rs767751416 GRCh37: 17:19552305-19552330
GRCh38: 17:19648992-19649017
24 ALDH3A2 NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) SNV Pathogenic/Likely pathogenic 265027 rs72547561 GRCh37: 17:19559736-19559736
GRCh38: 17:19656423-19656423
25 ALDH3A2 NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) SNV Pathogenic/Likely pathogenic 188768 rs72547562 GRCh37: 17:19559758-19559758
GRCh38: 17:19656445-19656445
26 ALDH3A2 NM_000382.3(ALDH3A2):c.471+1del Deletion Pathogenic/Likely pathogenic 189163 GRCh37: 17:19555945-19555945
GRCh38: 17:19652632-19652632
27 ALDH3A2 NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr) SNV Pathogenic/Likely pathogenic 631767 GRCh37: 17:19561087-19561087
GRCh38: 17:19657774-19657774
28 ALDH3A2 NM_000382.3(ALDH3A2):c.472-2A>G SNV Pathogenic/Likely pathogenic 554479 GRCh37: 17:19559677-19559677
GRCh38: 17:19656364-19656364
29 ALDH3A2 NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter) SNV Likely pathogenic 996694 GRCh37: 17:19552294-19552294
GRCh38: 17:19648981-19648981
30 KRT14 NM_000526.5(KRT14):c.92del (p.Ile31fs) Deletion Likely pathogenic 66385 rs60231560 GRCh37: 17:39742995-39742995
GRCh38: 17:41586743-41586743
31 ALDH3A2 NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs) Duplication Likely pathogenic 280660 rs772967175 GRCh37: 17:19559777-19559778
GRCh38: 17:19656464-19656465
32 ALDH3A2 NM_000382.3(ALDH3A2):c.103del (p.Gln35fs) Deletion Likely pathogenic 1027597 GRCh37: 17:19552387-19552387
GRCh38: 17:19649074-19649074
33 ALDH3A2 NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) SNV Likely pathogenic 1644 rs72547575 GRCh37: 17:19568310-19568310
GRCh38: 17:19664997-19664997
34 ALDH3A2 NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) SNV Likely pathogenic 556574 GRCh37: 17:19561059-19561059
GRCh38: 17:19657746-19657746
35 ALDH3A2 NM_000382.2(ALDH3A2):c.154_155delAG (p.Ser52Terfs) Microsatellite Likely pathogenic 550860 GRCh37: 17:19554858-19554859
GRCh38: 17:19651545-19651546
36 ALDH3A2 NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter) SNV Likely pathogenic 983808 GRCh37: 17:19555938-19555938
GRCh38: 17:19652625-19652625
37 ALDH3A2 NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter) SNV Likely pathogenic 983809 GRCh37: 17:19559778-19559778
GRCh38: 17:19656465-19656465
38 ALDH3A2 NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter) SNV Likely pathogenic 983810 GRCh37: 17:19559859-19559859
GRCh38: 17:19656546-19656546
39 ALDH3A2 NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter) SNV Likely pathogenic 983811 GRCh37: 17:19561137-19561137
GRCh38: 17:19657824-19657824
40 ALDH3A2 NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter) SNV Likely pathogenic 983973 GRCh37: 17:19561161-19561161
GRCh38: 17:19657848-19657848
41 ALDH3A2 NM_000382.3(ALDH3A2):c.799G>T (p.Glu267Ter) SNV Likely pathogenic 983974 GRCh37: 17:19564440-19564440
GRCh38: 17:19661127-19661127
42 ALDH3A2 NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter) SNV Likely pathogenic 983975 GRCh37: 17:19566705-19566705
GRCh38: 17:19663392-19663392
43 ALDH3A2 NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter) SNV Likely pathogenic 983976 GRCh37: 17:19568294-19568294
GRCh38: 17:19664981-19664981
44 ALDH3A2 NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter) SNV Likely pathogenic 804419 GRCh37: 17:19561154-19561154
GRCh38: 17:19657841-19657841
45 ALDH3A2 NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer) Deletion Likely pathogenic 552218 GRCh37: 17:19575192-19575192
GRCh38: 17:19671879-19671879
46 ALDH3A2 NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs) Indel Likely pathogenic 189187 GRCh37: 17:19564542-19564544
GRCh38: 17:19661229-19661231
47 ALDH3A2 NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val) SNV Likely pathogenic 522786 GRCh37: 17:19564549-19564549
GRCh38: 17:19661236-19661236
48 ALDH3A2 NM_000382.3(ALDH3A2):c.577del (p.Val193fs) Deletion Likely pathogenic 370896 GRCh37: 17:19559784-19559784
GRCh38: 17:19656471-19656471
49 ALDH3A2 NM_000382.3(ALDH3A2):c.798+1G>A SNV Likely pathogenic 371446 GRCh37: 17:19561176-19561176
GRCh38: 17:19657863-19657863
50 ALDH3A2 NM_000382.3(ALDH3A2):c.231del (p.Glu77fs) Deletion Likely pathogenic 370301 GRCh37: 17:19554936-19554936
GRCh38: 17:19651623-19651623

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

72 (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

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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:

36
# 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
Histidine metabolism 36
Show member pathways
 10.47 ALDH3A2 ALDH3A1
2
beta-Alanine metabolism (KEGG) 36
Show member pathways
 10.14 ALDH3A2 ALDH3A1
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GO Terms for Sjogren-Larsson Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.43 LCE1A KRT14 ALDH3A2
2 oxidation-reduction process GO:0055114 9.43 HCCS DEGS2 ALDH4A1 ALDH3A2 ALDH3A1 AGMO
3 cellular aldehyde metabolic process GO:0006081 9.16 ALDH3A2 ALDH3A1
4 sphingolipid biosynthetic process GO:0030148 8.8 ELOVL4 DEGS2 ALDH3A2

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 DEGS2 ALDH4A1 ALDH3A2 ALDH3A1 AGMO
2 3-chloroallyl aldehyde dehydrogenase activity GO:0004028 9.16 ALDH3A2 ALDH3A1
3 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.13 ALDH4A1 ALDH3A2 ALDH3A1
4 aldehyde dehydrogenase (NAD) activity GO:0004029 8.8 ALDH4A1 ALDH3A2 ALDH3A1
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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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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