SLS
MCID: SJG002
MIFTS: 54

Sjogren-Larsson Syndrome (SLS)

Categories: Eye diseases, Genetic 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 12 75 53 25 59 37 13 55 44 15 72
Sjögren-Larsson Syndrome 75 53 25 29 6
Sls 57 53 25 74
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 74
Syndrome, Sjogren-Larsson 40
Fadh Deficiency 53
Fao Deficiency 53

Characteristics:

Orphanet epidemiological data:

59
sjogren-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:



External Ids:

Disease Ontology 12 DOID:14501
OMIM 57 270200
KEGG 37 H00162
MeSH 44 D016111
NCIt 50 C85070
MESH via Orphanet 45 D016111
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 73 C0037231
Orphanet 59 ORPHA816
MedGen 42 C0037231
UMLS 72 C0037231

Summaries for Sjogren-Larsson Syndrome

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. 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 paraplegia and hereditary spastic paraplegia, 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, retina and eye, and related phenotypes are intellectual disability and kyphosis

Disease Ontology : 12 An autosomal recessive disease 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.

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)

KEGG : 37
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 : 74 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 : 75 Sjogren-Larsson syndrome is an autosomal recessive form of ichthyosis apparent at birth. Sjogren-Larsson... 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 250)
# Related Disease Score Top Affiliating Genes
1 paraplegia 30.3 PNPLA6 FA2H
2 hereditary spastic paraplegia 29.7 PNPLA6 FA2H
3 spondylometaepiphyseal dysplasia, short limb-hand type 11.9
4 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 11.8
5 senior-loken syndrome 1 11.7
6 ichthyosis alopecia eclabion ectropion mental retardation 11.6
7 mucopolysaccharidosis, type vii 11.2
8 ichthyosis 10.9
9 spastic diplegia 10.8
10 quadriplegia 10.6
11 spasticity 10.6
12 alacrima, achalasia, and mental retardation syndrome 10.5
13 locked-in syndrome 10.5
14 papilloma 10.5
15 impotence 10.4
16 lymphoma 10.4
17 spastic diplegia and mental retardation 10.4
18 macular degeneration, age-related, 1 10.4
19 autosomal recessive disease 10.4
20 astigmatism 10.4
21 contact dermatitis 10.3
22 myopia 10.3
23 demyelinating disease 10.3
24 learning disability 10.3
25 rare systemic disease 10.3
26 irritant dermatitis 10.3
27 systemic scleroderma 10.3
28 histidinemia 10.3
29 ataxia and polyneuropathy, adult-onset 10.3
30 spastic cerebral palsy 10.3
31 autosomal recessive congenital ichthyosis 10.3
32 neuroretinitis 10.3
33 spastic quadriplegia 10.3
34 periventricular leukomalacia 10.3
35 keratosis 10.3
36 hypogonadism 10.3
37 cerebral palsy 10.3
38 retinitis 10.3
39 dystonia 10.3
40 pneumonia 10.3
41 hypogonadotropism 10.3
42 dwarfism 10.3
43 erythrokeratoderma ''en cocardes'' 10.3
44 spastic paraparesis 10.3
45 cerebral atrophy 10.3
46 dysphagia 10.3
47 tremor 10.3
48 rare genetic skin disease 10.3
49 dermatitis 10.2
50 48,xyyy 10.2

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



Diseases related to Sjogren-Larsson Syndrome

Symptoms & Phenotypes for Sjogren-Larsson Syndrome

Human phenotypes related to Sjogren-Larsson Syndrome:

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

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

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 9.55 ALDH3A2 FA2H HSPG2 LPIN1 PNPLA6
2 integument MP:0010771 9.35 ALDH3A2 FA2H HSPG2 LPIN1 PNPLA6
3 nervous system MP:0003631 9.02 ALDH3A2 FA2H HSPG2 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 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) Recruiting 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 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, Retina, Eye, Brain, Liver, Heart, Bone

Publications for Sjogren-Larsson Syndrome

Articles related to Sjogren-Larsson Syndrome:

(show top 50) (show all 362)
# Title Authors PMID Year
1
Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome. 9 38 8
11124298 2000
2
A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome. 9 38 71
10792573 2000
3
The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. 9 38 71
10577908 1999
4
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. 9 38 8
9829906 1998
5
A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden. 9 38 71
9254849 1997
6
Mutations associated with Sjögren-Larsson syndrome. 9 38 71
9250352 1997
7
Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). 9 38 8
9027499 1997
8
Segmentation of Retinal Layers in Sjögren-Larsson Syndrome. 38 8
25784589 2015
9
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome. 38 8
16476818 2006
10
Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients. 38 71
10384396 1999
11
First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome. 38 71
9467812 1997
12
Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients. 38 71
9204959 1997
13
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. 38 71
8528251 1996
14
Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins. 38 8
7485163 1995
15
The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. 38 8
7894487 1994
16
Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts. 38 8
1939650 1991
17
Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyoses. 38 8
1770787 1991
18
Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle. 38 8
2666627 1989
19
Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. 38 8
3343337 1988
20
Prenatal diagnosis of Sjögren-Larsson syndrome. 38 8
7143181 1982
21
Ichthyosis in the Sjögren-Larsson syndrome. 38 8
6179662 1982
22
Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study. 38 8
7273467 1981
23
Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients. 38 8
7415820 1980
24
Dermatoglyphic patterns in the Sjögren-Larsson syndrome. 38 8
7363498 1980
25
Sjögren-Larsson syndrome. Diversity of cutaneous manifestations. 38 8
4109276 1971
26
The Sjogren-Larsson syndrome. 38 8
5302287 1968
27
The Sjögren-Larsson syndrome. 38 8
6018858 1967
28
Sjögren-larsson syndrome. Congenital ichthyosis, spastic paralysis, and oligophrenia. 38 8
5844397 1965
29
Congenital ichthyosis, mental retardation and spasticity (Sjogren-Larsson syndrome). 38 8
14009718 1962
30
Familial ichthyosis, dwarfism, mental retardation, and renal disease. 8
641625 1978
31
Congenital Ichthyosis, Spastic Diplegia, and Mental Deficiency. 8
20788940 1960
32
Mental deficiency, spasticity, and congenital ichthyosis; report of a case. 8
13550040 1958
33
Oligophrenia combined with congenital ichthyosiform erythrodermia, spastic syndrome and macularretinal degeneration; a clinical and genetic study. 8
13354244 1956
34
Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene. 9 38
16536828 2006
35
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). 9 38
15931689 2005
36
Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome. 9 38
15834613 2005
37
Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2. 9 38
15241804 2004
38
Sjögren-Larsson syndrome: biochemical defects and follow up in three cases. 9 38
11978568 2002
39
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. 9 38
11408337 2001
40
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome. 9 38
11166796 2001
41
Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome. 9 38
11306053 2001
42
Microsomal fatty aldehyde dehydrogenase catalyzes the oxidation of aliphatic aldehyde derived from ether glycerolipid catabolism: implications for Sjögren-Larsson syndrome. 9 38
11113626 2000
43
Genomic organization, expression, and alternate splicing of the mouse fatty aldehyde dehydrogenase gene. 9 38
11073717 2000
44
5-Lipoxygenase inhibition: a new treatment strategy for Sjögren-Larsson syndrome. 9 38
10774987 2000
45
A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndrome. 9 38
10233781 1999
46
Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome? 9 38
9823494 1998
47
Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid. 9 38
9662422 1998
48
A common deletion mutation in European patients with Sjögren-Larsson syndrome. 9 38
9441870 1997
49
Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization. 9 38
9133646 1997
50
Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression. 9 38
9070922 1997

Variations for Sjogren-Larsson Syndrome

ClinVar genetic disease variations for Sjogren-Larsson Syndrome:

6 (show top 50) (show all 117)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALDH3A2 NM_000382.2(ALDH3A2): c.798+1delG deletion Pathogenic 17:19561176-19561176 17:19657863-19657863
2 ALDH3A2 NM_000382.3(ALDH3A2): c.1108-1G> C single nucleotide variant Pathogenic 17:19568260-19568260 17:19664947-19664947
3 ALDH3A2 NM_000382.3(ALDH3A2): c.103C> T (p.Gln35Ter) single nucleotide variant Pathogenic 17:19552387-19552387 17:19649074-19649074
4 ALDH3A2 NM_000382.3(ALDH3A2): c.371_373del (p.Gly124del) deletion Pathogenic 17:19555076-19555078 17:19651763-19651765
5 ALDH3A2 NM_000382.3(ALDH3A2): c.631A> G (p.Lys211Glu) single nucleotide variant Pathogenic 17:19559838-19559838 17:19656525-19656525
6 ALDH3A2 NM_000382.2(ALDH3A2): c.153+5_386-408delins19 indel Pathogenic
7 ALDH3A2 NM_000382.3(ALDH3A2): c.1291_1292del (p.Lys431fs) deletion Pathogenic 17:19575117-19575118 17:19671804-19671805
8 ALDH3A2 NM_000382.3(ALDH3A2): c.908G> T (p.Gly303Val) single nucleotide variant Pathogenic 17:19564549-19564549 17:19661236-19661236
9 ALDH3A2 NM_000382.3(ALDH3A2): c.521del (p.Leu174fs) deletion Pathogenic 17:19559728-19559728 17:19656415-19656415
10 ALDH3A2 NM_000382.3(ALDH3A2): c.809del (p.Gly270fs) deletion Pathogenic 17:19564450-19564450 17:19661137-19661137
11 ALDH3A2 NM_000382.3(ALDH3A2) indel Pathogenic 17:19566646-19566648 17:19663333-19663335
12 ALDH3A2 NM_000382.3(ALDH3A2): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic 17:19559848-19559848 17:19656535-19656535
13 ALDH3A2 NM_000382.3(ALDH3A2): c.943C> T (p.Pro315Ser) single nucleotide variant Pathogenic rs72547571 17:19566648-19566648 17:19663335-19663335
14 ALDH3A2 NM_000382.3(ALDH3A2): c.1293_1294GA[2] (p.Glu433fs) short repeat Pathogenic rs387906256 17:19575123-19575124 17:19671810-19671811
15 ALDH3A2 NM_000382.3(ALDH3A2): c.1307_1311dup (p.Leu438fs) duplication Pathogenic rs387906257 17:19575133-19575137 17:19671820-19671824
16 ALDH3A2 NM_000382.3(ALDH3A2): c.1309A> T (p.Lys437Ter) single nucleotide variant Pathogenic 17:19575135-19575135 17:19671822-19671822
17 ALDH3A2 NM_000382.3(ALDH3A2): c.837T> G (p.Tyr279Ter) single nucleotide variant Pathogenic 17:19564478-19564478 17:19661165-19661165
18 ALDH3A2 NM_000382.3(ALDH3A2): c.710G> A (p.Cys237Tyr) single nucleotide variant Pathogenic/Likely pathogenic 17:19561087-19561087 17:19657774-19657774
19 ALDH3A2 NM_000382.3(ALDH3A2): c.798+1_798+6del deletion Pathogenic/Likely pathogenic 17:19561176-19561181 17:19657863-19657868
20 ALDH3A2 NM_000382.2(ALDH3A2): c.471+1delG deletion Pathogenic/Likely pathogenic 17:19555946-19555946 17:19652633-19652633
21 ALDH3A2 NM_000382.3(ALDH3A2): c.551C> T (p.Thr184Met) single nucleotide variant Pathogenic/Likely pathogenic rs72547562 17:19559758-19559758 17:19656445-19656445
22 ALDH3A2 NM_000382.3(ALDH3A2): c.529C> T (p.Arg177Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72547561 17:19559736-19559736 17:19656423-19656423
23 ALDH3A2 NM_000382.3(ALDH3A2): c.733G> A (p.Asp245Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72547568 17:19561110-19561110 17:19657797-19657797
24 ALDH3A2 NM_000382.3(ALDH3A2): c.574dup (p.Ile192fs) duplication Pathogenic/Likely pathogenic rs772967175 17:19559781-19559781 17:19656468-19656468
25 ALDH3A2 NM_000382.3(ALDH3A2): c.1157A> G (p.Asn386Ser) single nucleotide variant Pathogenic/Likely pathogenic 17:19568310-19568310 17:19664997-19664997
26 ALDH3A2 NM_000382.3(ALDH3A2): c.25_50del (p.Arg9fs) deletion Pathogenic/Likely pathogenic 17:19552309-19552334 17:19648996-19649021
27 ALDH3A2 NM_000382.3(ALDH3A2): c.151_152del (p.Lys51fs) deletion Likely pathogenic 17:19552435-19552436 17:19649122-19649123
28 ALDH3A2 NM_000382.3(ALDH3A2): c.153+2T> G single nucleotide variant Likely pathogenic 17:19552439-19552439 17:19649126-19649126
29 ALDH3A2 NM_000382.3(ALDH3A2): c.231del (p.Glu77fs) deletion Likely pathogenic 17:19554937-19554937 17:19651624-19651624
30 ALDH3A2 NM_000382.3(ALDH3A2): c.234G> A (p.Trp78Ter) single nucleotide variant Likely pathogenic 17:19554940-19554940 17:19651627-19651627
31 ALDH3A2 NM_000382.3(ALDH3A2): c.281dup (p.Ala95fs) duplication Likely pathogenic 17:19554987-19554987 17:19651674-19651674
32 ALDH3A2 NM_000382.3(ALDH3A2): c.577del (p.Val193fs) deletion Likely pathogenic 17:19559784-19559784 17:19656471-19656471
33 ALDH3A2 NM_000382.3(ALDH3A2): c.769dup (p.Ile257fs) duplication Likely pathogenic 17:19561146-19561146 17:19657833-19657833
34 ALDH3A2 NM_000382.3(ALDH3A2): c.798+1G> A single nucleotide variant Likely pathogenic 17:19561176-19561176 17:19657863-19657863
35 ALDH3A2 NM_000382.3(ALDH3A2): c.822_823AG[1] (p.Glu275fs) short repeat Likely pathogenic 17:19564465-19564466 17:19661152-19661153
36 ALDH3A2 NM_000382.3(ALDH3A2): c.1094C> T (p.Ser365Leu) single nucleotide variant Likely pathogenic 17:19566799-19566799 17:19663486-19663486
37 ALDH3A2 NM_000382.3(ALDH3A2): c.1108-2A> G single nucleotide variant Likely pathogenic 17:19568259-19568259 17:19664946-19664946
38 ALDH3A2 NM_000382.3(ALDH3A2): c.2T> A (p.Met1Lys) single nucleotide variant Likely pathogenic 17:19552286-19552286 17:19648973-19648973
39 ALDH3A2 NM_000382.3(ALDH3A2): c.364del (p.Pro121_Leu122insTer) deletion Likely pathogenic 17:19555069-19555070 17:19651757-19651757
40 ALDH3A2 NM_000382.3(ALDH3A2): c.471+2T> G single nucleotide variant Likely pathogenic 17:19555947-19555947 17:19652634-19652634
41 ALDH3A2 NM_000382.3(ALDH3A2): c.1277T> G (p.Leu426Ter) single nucleotide variant Likely pathogenic 17:19575103-19575103 17:19671790-19671790
42 ALDH3A2 NM_000382.3(ALDH3A2): c.1108-1G> T single nucleotide variant Likely pathogenic 17:19568260-19568260 17:19664947-19664947
43 ALDH3A2 NM_000382.3(ALDH3A2): c.1302dup (p.Ala435fs) duplication Likely pathogenic 17:19575128-19575128 17:19671815-19671815
44 ALDH3A2 NM_000382.3(ALDH3A2): c.1444-1G> T single nucleotide variant Likely pathogenic 17:19578870-19578870 17:19675557-19675557
45 ALDH3A2 NM_000382.3(ALDH3A2): c.798+5G> A single nucleotide variant Likely pathogenic 17:19561180-19561180 17:19657867-19657867
46 ALDH3A2 NM_000382.3(ALDH3A2): c.901_903delinsCC (p.Ala301fs) indel Likely pathogenic 17:19564542-19564544 17:19661229-19661231
47 ALDH3A2 NM_000382.3(ALDH3A2): c.1100del (p.Asn367fs) deletion Likely pathogenic 17:19566805-19566805 17:19663492-19663492
48 ALDH3A2 NM_000382.3(ALDH3A2): c.979del (p.Lys326_Val327insTer) deletion Likely pathogenic 17:19566682-19566683 17:19663371-19663371
49 ALDH3A2 NM_000382.3(ALDH3A2): c.1367T> A (p.Leu456Ter) single nucleotide variant Likely pathogenic 17:19575193-19575193 17:19671880-19671880
50 ALDH3A2 NM_000382.3(ALDH3A2): c.798G> C (p.Lys266Asn) single nucleotide variant Likely pathogenic rs72547569 17:19561175-19561175 17:19657862-19657862

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

74 (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

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 PNPLA6 LPIN1 FA2H ALDH3A2
2 organelle membrane GO:0031090 9.16 FA2H ALDH3A2
3 endoplasmic reticulum membrane GO:0005789 8.92 PNPLA6 LPIN1 FA2H ALDH3A2

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 FA2H ALDH3A2
2 fatty acid metabolic process GO:0006631 9.13 LPIN1 FA2H ALDH3A2
3 lipid metabolic process GO:0006629 9.02 PNPLA6 LPIN1 HSPG2 FA2H ALDH3A2

Sources for Sjogren-Larsson Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HGMD
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62 PubMed
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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