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SCCD
MCID: SCH076
MIFTS: 44

Schnyder Corneal Dystrophy (SCCD)

Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Schnyder Corneal Dystrophy

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MalaCards integrated aliases for Schnyder Corneal Dystrophy:

Name: Schnyder Corneal Dystrophy 58 12 54 76 38 15
Schnyder Crystalline Corneal Dystrophy 58 12 54 76 30 6 74
Sccd 58 12 54 76
Corneal Dystrophy, Schnyder Type 58 76 13
Corneal Dystrophy, Crystalline, of Schnyder 58 45
Corneal Dystrophy Crystalline of Schnyder 12 54
Hereditary Crystalline Stromal Dystrophy of Schnyder 12
Dystrophy, Corneal, Crystalline, Schnyder 41
Crystalline Stromal Dystrophy 12
Corneal Dystrophy, Schnyder 58
Scd 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
schnyder corneal dystrophy:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0060456
OMIM 58 121800
KEGG 38 H00959
SNOMED-CT 69 39662004
MedGen 43 C0271287
SNOMED-CT via HPO 70 263681008 419395007 5587004
UMLS 74 C0271287
Sources

Summaries for Schnyder Corneal Dystrophy

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NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98967Disease definitionSchnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.EpidemiologyThe prevalence of this form of corneal dystrophy is not known.Clinical descriptionLesions usually develop early in life and are mostly bilateral, but one eye may become affected prior to the other. Some patients complain of glare, which increases with age. Visual acuity gradually decreases. Associated systemic disorders have been commonly reported (hypercholesterolemia, arcus lipoides and genu valgum). Over time, small white opacities develop in the corneal stroma along with a diffuse haze. In about 50% of patients, crystals are not observed clinically.EtiologySCD is caused by various mutations in the UBIAD1 gene (1p36.22).Diagnostic methodsTypically, a ring-shaped yellow-white opacity composed of innumerable fine needle-shaped crystals forms in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared.Differential diagnosisSCD should be differentiated from other lipid keratopathies and particular from lecithin cholesterol acyltransferase disease (LCAT deficiency, see this term).Genetic counselingAn autosomal dominant pattern of inheritance has been reported.Management and treatmentThe superficial pathologic corneal tissue needs to be excised.Visit the Orphanet disease page for more resources.

MalaCards based summary : Schnyder Corneal Dystrophy, also known as schnyder crystalline corneal dystrophy, is related to coronary heart disease 1 and sickle cell disease. An important gene associated with Schnyder Corneal Dystrophy is UBIAD1 (UbiA Prenyltransferase Domain Containing 1), and among its related pathways/superpathways are Lipoprotein metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include eye, heart and prostate, and related phenotypes are corneal dystrophy and crystalline corneal dystrophy

OMIM : 58 Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013). (121800)

UniProtKB/Swiss-Prot : 76 Corneal dystrophy, Schnyder type: A form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared.

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Related Diseases for Schnyder Corneal Dystrophy

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Diseases related to Schnyder Corneal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 coronary heart disease 1 29.8 APOA2 APOB APOE
2 sickle cell disease 12.3
3 ehlers-danlos syndrome, spondylodysplastic type, 3 11.7
4 cardiac conduction defect 11.5
5 sickle cell anemia 11.3
6 qt interval, variation in 11.3
7 diabetes mellitus, noninsulin-dependent 11.2
8 fanconi anemia, complementation group d2 11.2
9 body mass index quantitative trait locus 11 11.2
10 lipodystrophy, congenital generalized, type 3 11.2
11 lipodystrophy, congenital generalized, type 4 11.2
12 reye syndrome 11.2
13 carnitine deficiency, systemic primary 11.2
14 hemoglobinopathy 11.1
15 fanconi anemia, complementation group a 11.1
16 superior semicircular canal dehiscence 11.1
17 subacute cerebellar degeneration 11.1
18 semicircular canal dehiscence syndrome 11.1
19 corneal dystrophy 10.9
20 rere-related disorders 10.4
21 stromal dystrophy 10.3
22 hypertrophic cardiomyopathy 10.3
23 corneal dystrophy, posterior polymorphous, 1 10.2
24 xanthoma disseminatum 10.2 APOB APOE
25 hypercholesterolemia, autosomal dominant, type b 10.2 APOB APOE
26 defective apolipoprotein b-100 10.2 APOB APOE
27 huntington disease-like 1 10.2 APOB APOE
28 hyperlipoproteinemia, type v 10.2 APOB APOE
29 renal oncocytoma 10.2
30 familial lcat deficiency 10.2 APOA2 APOE
31 sea-blue histiocyte disease 10.2 APOB APOE
32 hyperlipidemia, familial combined 10.2 APOA2 APOB
33 homozygous familial hypercholesterolemia 10.2 APOB APOE
34 hyperlipoproteinemia, type iv 10.2 APOA2 APOB
35 ischemic heart disease 10.2 APOB APOE
36 hypertriglyceridemia, familial 10.2 APOB APOE
37 hypoalphalipoproteinemia, primary 10.1 APOA2 APOB
38 xanthomatosis 10.1 APOB APOE
39 hyperlipoproteinemia, type iii 10.1 APOB APOE
40 coronary stenosis 10.1 APOB APOE
41 carotid artery disease 10.1 APOB APOE
42 beta-thalassemia 10.0
43 spinal stenosis 10.0
44 thalassemia 10.0
45 disease of mental health 10.0
46 infertility 10.0
47 spinocerebellar degeneration 10.0
48 gallbladder disease 10.0 APOB APOE
49 lipoprotein glomerulopathy 10.0 APOA2 APOB APOE
50 leukodystrophy, hypomyelinating, 3 10.0 APOA2 APOB APOE

Graphical network of the top 20 diseases related to Schnyder Corneal Dystrophy:



Diseases related to Schnyder Corneal Dystrophy
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Symptoms & Phenotypes for Schnyder Corneal Dystrophy

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Human phenotypes related to Schnyder Corneal Dystrophy:

33
# Description HPO Frequency HPO Source Accession
1 corneal dystrophy 33 HP:0001131
2 crystalline corneal dystrophy 33 HP:0007760

Symptoms via clinical synopsis from OMIM:

58
Eyes:
crystalline corneal dystrophy
cloudy central cornea

Clinical features from OMIM:

121800
Sources

Drugs & Therapeutics for Schnyder Corneal Dystrophy

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Search Clinical Trials , NIH Clinical Center for Schnyder Corneal Dystrophy

Cochrane evidence based reviews: corneal dystrophy, crystalline, of schnyder

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Genetic Tests for Schnyder Corneal Dystrophy

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Genetic tests related to Schnyder Corneal Dystrophy:

# Genetic test Affiliating Genes
1 Schnyder Crystalline Corneal Dystrophy 30 UBIAD1
Sources

Anatomical Context for Schnyder Corneal Dystrophy

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MalaCards organs/tissues related to Schnyder Corneal Dystrophy:

42
Eye, Heart, Prostate, Skin
Sources

Publications for Schnyder Corneal Dystrophy

About this section

Articles related to Schnyder Corneal Dystrophy:

(show all 35)
# Title Authors Year
1
Schnyder corneal dystrophy-associated UBIAD1 Inhibits ER-associated degradation of HMG CoA reductase in mice. ( 30785396 )
2019
2
Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3. ( 30950897 )
2019
3
Ex vivo 3D human corneal stroma model for Schnyder corneal dystrophy - role of autophagy in its pathogenesis and resolution. ( 28872183 )
2018
4
Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy. ( 29319599 )
2018
5
A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation. ( 29977031 )
2018
6
Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. ( 30084067 )
2018
7
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. ( 30223810 )
2018
8
Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. ( 27382485 )
2016
9
Phenotype-genotype correlation in patients with Schnyder corneal dystrophy. ( 24608252 )
2014
10
A case of Schnyder corneal dystrophy with crystals. ( 24121409 )
2013
11
The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes. ( 23169578 )
2013
12
Clinical and pathological features of a non-crystalline form of Schnyder corneal dystrophy. ( 22411127 )
2012
13
Differential diagnosis of Schnyder corneal dystrophy. ( 21540632 )
2011
14
Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F). ( 21572737 )
2011
15
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. ( 22065921 )
2011
16
Evidence of oxidative stress in Schnyder corneal dystrophy. ( 20530186 )
2010
17
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. ( 20505825 )
2010
18
Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. ( 20489584 )
2010
19
More on Schnyder corneal dystrophy. ( 19883857 )
2009
20
A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. ( 19649163 )
2009
21
Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy. ( 19429578 )
2009
22
Schnyder corneal dystrophy. ( 19398911 )
2009
23
Analysis of conjunctival fibroblasts from a proband with Schnyder corneal dystrophy. ( 18618004 )
2008
24
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. ( 18176953 )
2008
25
Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis). ( 18427632 )
2007
26
Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. ( 17962451 )
2007
27
Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. ( 17960116 )
2007
28
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. ( 17668063 )
2007
29
Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy. ( 16163269 )
2005
30
Phototherapeutic keratectomy in Schnyder crystalline corneal dystrophy. ( 15084868 )
2004
31
Fine mapping of the Schnyder's crystalline corneal dystrophy locus. ( 15034782 )
2004
32
In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy. ( 10328394 )
1999
33
Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts. ( 9450854 )
1998
34
Panstromal Schnyder corneal dystrophy. A clinical pathologic report with quantitative analysis of corneal lipid composition. ( 8190477 )
1994
35
Schnyder's dystrophy. Progression and metabolism. ( 3486394 )
1986
Sources

Variations for Schnyder Corneal Dystrophy

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UniProtKB/Swiss-Prot genetic disease variations for Schnyder Corneal Dystrophy:

76 (show all 19)
# Symbol AA change Variation ID SNP ID
1 UBIAD1 p.Asn102Ser VAR_043714 rs118203945
2 UBIAD1 p.Asp112Gly VAR_043715 rs118203950
3 UBIAD1 p.Asp118Gly VAR_043716
4 UBIAD1 p.Arg119Gly VAR_043717 rs118203947
5 UBIAD1 p.Leu121Phe VAR_043718
6 UBIAD1 p.Ser171Pro VAR_043719 rs118203951
7 UBIAD1 p.Thr175Ile VAR_043720 rs118203948
8 UBIAD1 p.Gly177Arg VAR_043721 rs118203946
9 UBIAD1 p.Gly186Arg VAR_043722 rs118203952
10 UBIAD1 p.Asn232Ser VAR_043723 rs118203949
11 UBIAD1 p.Asp236Glu VAR_043724 rs118203953
12 UBIAD1 p.Ala97Thr VAR_064337
13 UBIAD1 p.Gly98Ser VAR_064338
14 UBIAD1 p.Asp112Asn VAR_064339
15 UBIAD1 p.Val122Glu VAR_064340
16 UBIAD1 p.Val122Gly VAR_064341
17 UBIAD1 p.Leu188His VAR_064342
18 UBIAD1 p.Asp240Asn VAR_064343 rs371811409
19 UBIAD1 p.Gly177Glu VAR_069267 rs397514669

ClinVar genetic disease variations for Schnyder Corneal Dystrophy:

6 (show top 50) (show all 138)
# Gene Variation Type Significance SNP ID Assembly Location
1 UBIAD1 NM_013319.2(UBIAD1): c.305A> G (p.Asn102Ser) single nucleotide variant Pathogenic rs118203945 GRCh37 Chromosome 1, 11333893: 11333893
2 UBIAD1 NM_013319.2(UBIAD1): c.305A> G (p.Asn102Ser) single nucleotide variant Pathogenic rs118203945 GRCh38 Chromosome 1, 11273836: 11273836
3 UBIAD1 NM_013319.2(UBIAD1): c.529G> C (p.Gly177Arg) single nucleotide variant Pathogenic rs118203946 GRCh37 Chromosome 1, 11334117: 11334117
4 UBIAD1 NM_013319.2(UBIAD1): c.529G> C (p.Gly177Arg) single nucleotide variant Pathogenic rs118203946 GRCh38 Chromosome 1, 11274060: 11274060
5 UBIAD1 NM_013319.2(UBIAD1): c.355A> G (p.Arg119Gly) single nucleotide variant Pathogenic rs118203947 GRCh37 Chromosome 1, 11333943: 11333943
6 UBIAD1 NM_013319.2(UBIAD1): c.355A> G (p.Arg119Gly) single nucleotide variant Pathogenic rs118203947 GRCh38 Chromosome 1, 11273886: 11273886
7 UBIAD1 NM_013319.2(UBIAD1): c.524C> T (p.Thr175Ile) single nucleotide variant Pathogenic rs118203948 GRCh37 Chromosome 1, 11334112: 11334112
8 UBIAD1 NM_013319.2(UBIAD1): c.524C> T (p.Thr175Ile) single nucleotide variant Pathogenic rs118203948 GRCh38 Chromosome 1, 11274055: 11274055
9 UBIAD1 NM_013319.2(UBIAD1): c.695A> G (p.Asn232Ser) single nucleotide variant Pathogenic rs118203949 GRCh37 Chromosome 1, 11345866: 11345866
10 UBIAD1 NM_013319.2(UBIAD1): c.695A> G (p.Asn232Ser) single nucleotide variant Pathogenic rs118203949 GRCh38 Chromosome 1, 11285809: 11285809
11 UBIAD1 NM_013319.2(UBIAD1): c.335A> G (p.Asp112Gly) single nucleotide variant Pathogenic rs118203950 GRCh37 Chromosome 1, 11333923: 11333923
12 UBIAD1 NM_013319.2(UBIAD1): c.335A> G (p.Asp112Gly) single nucleotide variant Pathogenic rs118203950 GRCh38 Chromosome 1, 11273866: 11273866
13 UBIAD1 NM_013319.2(UBIAD1): c.511T> C (p.Ser171Pro) single nucleotide variant Pathogenic rs118203951 GRCh37 Chromosome 1, 11334099: 11334099
14 UBIAD1 NM_013319.2(UBIAD1): c.511T> C (p.Ser171Pro) single nucleotide variant Pathogenic rs118203951 GRCh38 Chromosome 1, 11274042: 11274042
15 UBIAD1 NM_013319.2(UBIAD1): c.556G> A (p.Gly186Arg) single nucleotide variant Pathogenic rs118203952 GRCh37 Chromosome 1, 11345727: 11345727
16 UBIAD1 NM_013319.2(UBIAD1): c.556G> A (p.Gly186Arg) single nucleotide variant Pathogenic rs118203952 GRCh38 Chromosome 1, 11285670: 11285670
17 UBIAD1 NM_013319.2(UBIAD1): c.708C> G (p.Asp236Glu) single nucleotide variant Pathogenic rs118203953 GRCh37 Chromosome 1, 11345879: 11345879
18 UBIAD1 NM_013319.2(UBIAD1): c.708C> G (p.Asp236Glu) single nucleotide variant Pathogenic rs118203953 GRCh38 Chromosome 1, 11285822: 11285822
19 UBIAD1 NM_013319.2(UBIAD1): c.530G> A (p.Gly177Glu) single nucleotide variant Pathogenic rs397514669 GRCh37 Chromosome 1, 11345701: 11345701
20 UBIAD1 NM_013319.2(UBIAD1): c.530G> A (p.Gly177Glu) single nucleotide variant Pathogenic rs397514669 GRCh38 Chromosome 1, 11285644: 11285644
21 UBIAD1 NM_013319.2(UBIAD1): c.*1779C> T single nucleotide variant Uncertain significance rs886045083 GRCh37 Chromosome 1, 11347967: 11347967
22 UBIAD1 NM_013319.2(UBIAD1): c.*1779C> T single nucleotide variant Uncertain significance rs886045083 GRCh38 Chromosome 1, 11287910: 11287910
23 UBIAD1 NM_013319.2(UBIAD1): c.*2305C> T single nucleotide variant Likely benign rs573522173 GRCh38 Chromosome 1, 11288436: 11288436
24 UBIAD1 NM_013319.2(UBIAD1): c.*997C> T single nucleotide variant Uncertain significance rs886045074 GRCh37 Chromosome 1, 11347185: 11347185
25 UBIAD1 NM_013319.2(UBIAD1): c.*997C> T single nucleotide variant Uncertain significance rs886045074 GRCh38 Chromosome 1, 11287128: 11287128
26 UBIAD1 NM_013319.2(UBIAD1): c.*619A> G single nucleotide variant Uncertain significance rs886045072 GRCh37 Chromosome 1, 11346807: 11346807
27 UBIAD1 NM_013319.2(UBIAD1): c.*619A> G single nucleotide variant Uncertain significance rs886045072 GRCh38 Chromosome 1, 11286750: 11286750
28 UBIAD1 NM_013319.2(UBIAD1): c.751C> A (p.Leu251Ile) single nucleotide variant Uncertain significance rs780282620 GRCh38 Chromosome 1, 11285865: 11285865
29 UBIAD1 NM_013319.2(UBIAD1): c.751C> A (p.Leu251Ile) single nucleotide variant Uncertain significance rs780282620 GRCh37 Chromosome 1, 11345922: 11345922
30 UBIAD1 NM_013319.2(UBIAD1): c.740C> T (p.Thr247Met) single nucleotide variant Likely benign rs371649705 GRCh38 Chromosome 1, 11285854: 11285854
31 UBIAD1 NM_013319.2(UBIAD1): c.740C> T (p.Thr247Met) single nucleotide variant Likely benign rs371649705 GRCh37 Chromosome 1, 11345911: 11345911
32 UBIAD1 NM_013319.2(UBIAD1): c.452A> G (p.Tyr151Cys) single nucleotide variant Likely benign rs138443305 GRCh37 Chromosome 1, 11334040: 11334040
33 UBIAD1 NM_013319.2(UBIAD1): c.452A> G (p.Tyr151Cys) single nucleotide variant Likely benign rs138443305 GRCh38 Chromosome 1, 11273983: 11273983
34 UBIAD1 NM_013319.2(UBIAD1): c.-104G> A single nucleotide variant Uncertain significance rs559993089 GRCh37 Chromosome 1, 11333485: 11333485
35 UBIAD1 NM_013319.2(UBIAD1): c.-104G> A single nucleotide variant Uncertain significance rs559993089 GRCh38 Chromosome 1, 11273428: 11273428
36 UBIAD1 NM_013319.2(UBIAD1): c.-311C> T single nucleotide variant Uncertain significance rs886045057 GRCh37 Chromosome 1, 11333278: 11333278
37 UBIAD1 NM_013319.2(UBIAD1): c.-311C> T single nucleotide variant Uncertain significance rs886045057 GRCh38 Chromosome 1, 11273221: 11273221
38 UBIAD1 NM_013319.2(UBIAD1): c.*1671G> A single nucleotide variant Likely benign rs544393884 GRCh38 Chromosome 1, 11287802: 11287802
39 UBIAD1 NM_013319.2(UBIAD1): c.*1671G> A single nucleotide variant Likely benign rs544393884 GRCh37 Chromosome 1, 11347859: 11347859
40 UBIAD1 NM_013319.2(UBIAD1): c.*1535A> T single nucleotide variant Uncertain significance rs536904644 GRCh37 Chromosome 1, 11347723: 11347723
41 UBIAD1 NM_013319.2(UBIAD1): c.*1535A> T single nucleotide variant Uncertain significance rs536904644 GRCh38 Chromosome 1, 11287666: 11287666
42 UBIAD1 NM_013319.2(UBIAD1): c.*969_*970insTTTG insertion Benign rs3063961 GRCh37 Chromosome 1, 11347157: 11347158
43 UBIAD1 NM_013319.2(UBIAD1): c.*969_*970insTTTG insertion Benign rs3063961 GRCh38 Chromosome 1, 11287100: 11287101
44 UBIAD1 NM_013319.2(UBIAD1): c.*847A> T single nucleotide variant Uncertain significance rs886045073 GRCh37 Chromosome 1, 11347035: 11347035
45 UBIAD1 NM_013319.2(UBIAD1): c.*847A> T single nucleotide variant Uncertain significance rs886045073 GRCh38 Chromosome 1, 11286978: 11286978
46 UBIAD1 NM_013319.2(UBIAD1): c.837C> T (p.Cys279=) single nucleotide variant Likely benign rs201111281 GRCh37 Chromosome 1, 11346008: 11346008
47 UBIAD1 NM_013319.2(UBIAD1): c.837C> T (p.Cys279=) single nucleotide variant Likely benign rs201111281 GRCh38 Chromosome 1, 11285951: 11285951
48 UBIAD1 NM_013319.2(UBIAD1): c.417C> T (p.Tyr139=) single nucleotide variant Likely benign rs377764711 GRCh37 Chromosome 1, 11334005: 11334005
49 UBIAD1 NM_013319.2(UBIAD1): c.417C> T (p.Tyr139=) single nucleotide variant Likely benign rs377764711 GRCh38 Chromosome 1, 11273948: 11273948
50 UBIAD1 NM_013319.2(UBIAD1): c.224C> T (p.Ser75Phe) single nucleotide variant Likely benign rs114000606 GRCh37 Chromosome 1, 11333812: 11333812
Sources

Expression for Schnyder Corneal Dystrophy

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Search GEO for disease gene expression data for Schnyder Corneal Dystrophy.
Sources

Pathways for Schnyder Corneal Dystrophy

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Pathways related to Schnyder Corneal Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Lipoprotein metabolism 67
Show member pathways
 12.03 APOA2 APOB APOE
2
Metabolism of water-soluble vitamins and cofactors 67
Show member pathways
 11.86 APOA2 APOB APOE UBIAD1
3
Platelet homeostasis 67
Show member pathways
 11.71 APOB ATP2B4 SLC8A3
4
Statin Pathway 1
Show member pathways
 11.4 APOA2 APOB APOE
5
Metabolism of fat-soluble vitamins 67
Show member pathways
 11.25 APOA2 APOB APOE UBIAD1
Sources

GO Terms for Schnyder Corneal Dystrophy

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Cellular components related to Schnyder Corneal Dystrophy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.81 APOB CLSTN1 SLC8A3 UBIAD1
2 endoplasmic reticulum GO:0005783 9.8 APOB APOE CLSTN1 SLC8A3 UBIAD1
3 glutamatergic synapse GO:0098978 9.67 APOE ATP2B4 CLSTN1
4 endoplasmic reticulum lumen GO:0005788 9.65 APOA2 APOB APOE
5 early endosome GO:0005769 9.63 APOA2 APOB APOE
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.43 APOB APOE
7 high-density lipoprotein particle GO:0034364 9.37 APOA2 APOE
8 endocytic vesicle lumen GO:0071682 9.32 APOB APOE
9 low-density lipoprotein particle GO:0034362 9.26 APOB APOE
10 intermediate-density lipoprotein particle GO:0034363 9.16 APOB APOE
11 very-low-density lipoprotein particle GO:0034361 9.13 APOA2 APOB APOE
12 chylomicron GO:0042627 8.8 APOA2 APOB APOE
13 plasma membrane GO:0005886 10.07 APOB APOE ATP2B4 CLSTN1 KCNJ15 KCNJ9

Biological processes related to Schnyder Corneal Dystrophy according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 ATP2B4 KCNJ15 KCNJ9 SLC8A3
2 post-translational protein modification GO:0043687 9.82 APOA2 APOB APOE
3 cellular protein metabolic process GO:0044267 9.8 APOA2 APOB APOE
4 lipid transport GO:0006869 9.76 APOA2 APOB APOE
5 cellular calcium ion homeostasis GO:0006874 9.72 APOE ATP2B4 SLC8A3
6 cholesterol homeostasis GO:0042632 9.69 APOA2 APOB APOE
7 flagellated sperm motility GO:0030317 9.65 APOB ATP2B4
8 cholesterol metabolic process GO:0008203 9.65 APOA2 APOB APOE
9 potassium ion import across plasma membrane GO:1990573 9.64 KCNJ15 KCNJ9
10 regulation of cardiac conduction GO:1903779 9.64 ATP2B4 SLC8A3
11 triglyceride metabolic process GO:0006641 9.63 APOA2 APOE
12 cholesterol transport GO:0030301 9.62 APOA2 APOB
13 triglyceride catabolic process GO:0019433 9.61 APOB APOE
14 artery morphogenesis GO:0048844 9.61 APOB APOE
15 reverse cholesterol transport GO:0043691 9.6 APOA2 APOE
16 high-density lipoprotein particle remodeling GO:0034375 9.59 APOA2 APOE
17 high-density lipoprotein particle assembly GO:0034380 9.58 APOA2 APOE
18 retinoid metabolic process GO:0001523 9.58 APOA2 APOB APOE
19 phospholipid efflux GO:0033700 9.57 APOA2 APOE
20 high-density lipoprotein particle clearance GO:0034384 9.56 APOA2 APOE
21 calcium ion import across plasma membrane GO:0098703 9.54 ATP2B4 SLC8A3
22 positive regulation of cholesterol esterification GO:0010873 9.52 APOA2 APOE
23 cholesterol efflux GO:0033344 9.5 APOA2 APOB APOE
24 chylomicron remnant clearance GO:0034382 9.49 APOB APOE
25 lipoprotein biosynthetic process GO:0042158 9.46 APOB APOE
26 very-low-density lipoprotein particle clearance GO:0034447 9.43 APOB APOE
27 lipoprotein metabolic process GO:0042157 9.43 APOA2 APOB APOE
28 lipoprotein catabolic process GO:0042159 9.37 APOB APOE
29 low-density lipoprotein particle remodeling GO:0034374 9.33 APOA2 APOB APOE
30 chylomicron assembly GO:0034378 9.13 APOA2 APOB APOE
31 chylomicron remodeling GO:0034371 8.8 APOA2 APOB APOE

Molecular functions related to Schnyder Corneal Dystrophy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.5 APOA2 APOB APOE
2 amyloid-beta binding GO:0001540 9.49 APOE CLSTN1
3 lipid binding GO:0008289 9.48 APOA2 APOE
4 cholesterol binding GO:0015485 9.46 APOA2 APOE
5 antioxidant activity GO:0016209 9.43 APOE UBIAD1
6 low-density lipoprotein particle receptor binding GO:0050750 9.4 APOB APOE
7 inward rectifier potassium channel activity GO:0005242 9.37 KCNJ15 KCNJ9
8 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.16 APOA2 APOE
9 lipid transporter activity GO:0005319 9.13 APOA2 APOB APOE
10 G-protein activated inward rectifier potassium channel activity GO:0015467 8.96 KCNJ9
11 cholesterol transporter activity GO:0017127 8.8 APOA2 APOB APOE
Sources

Sources for Schnyder Corneal Dystrophy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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