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SCCD
MCID: SCH076
MIFTS: 47

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 57 12 53 59 74 37 15
Schnyder Crystalline Corneal Dystrophy 57 12 53 59 74 29 6 72
Sccd 57 12 53 59 74
Corneal Dystrophy, Schnyder Type 57 74 13
Hereditary Crystalline Stromal Dystrophy of Schnyder 12 59
Corneal Dystrophy, Crystalline, of Schnyder 57 44
Corneal Dystrophy Crystalline of Schnyder 12 53
Crystalline Stromal Dystrophy 12 59
Scd 59 74
Schnyder Crystalline Dystrophy Sine Crystals 59
Dystrophy, Corneal, Crystalline, Schnyder 40
Corneal Dystrophy, Schnyder 57

Characteristics:

Orphanet epidemiological data:

59
schnyder corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
schnyder corneal dystrophy:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060456
OMIM 57 121800
KEGG 37 H00959
SNOMED-CT 68 39662004
MESH via Orphanet 45 C535475
ICD10 via Orphanet 34 H18.5
UMLS via Orphanet 73 C0271287
Orphanet 59 ORPHA98967
MedGen 42 C0271287
UMLS 72 C0271287
Sources

Summaries for Schnyder Corneal Dystrophy

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98967DefinitionSchnyder 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 tangier disease and coronary heart disease 1. 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 and skin, and related phenotypes are corneal dystrophy and crystalline corneal dystrophy

OMIM : 57 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)

KEGG : 37
Schnyder corneal dystrophy (SCD) is a corneal dystrophy that is characterized by deposition of cholesterol in the corneal stroma. SCD usually becomes apparent early in life with corneal clouding or with crystals within the corneal stroma. Over time, an initially unremarkable corneal stroma acquires small white opacities and a diffuse haze. In approximately 50% of cases, crystals are not evident clinically (Schnyder crystalline dystrophy sine crystals). Most cases of SCD lack an obvious systemic disorder, but hypercholesterolemia is common, and so are associated manifestations, such as arcus lipoides and xanthelasma. An opaque disc of corneal crystals or other lipids may diminish vision sufficiently in both eyes to result in the need for a corneal graft. SCD is caused by one of numerous mutations in the UBIAD1 gene.

UniProtKB/Swiss-Prot : 74 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 134)
# Related Disease Score Top Affiliating Genes
1 tangier disease 30.3 APOE APOB APOA2
2 coronary heart disease 1 30.2 APOE APOB APOA2
3 sickle cell disease 12.4
4 ehlers-danlos syndrome, spondylodysplastic type, 3 11.8
5 sickle cell anemia 11.8
6 cardiac conduction defect 11.6
7 hemoglobinopathy 11.6
8 qt interval, variation in 11.5
9 abdominal obesity-metabolic syndrome 1 11.4
10 diabetes mellitus, noninsulin-dependent 11.3
11 fanconi anemia, complementation group d2 11.3
12 body mass index quantitative trait locus 11 11.3
13 lipodystrophy, congenital generalized, type 3 11.3
14 lipodystrophy, congenital generalized, type 4 11.3
15 reye syndrome 11.3
16 carnitine deficiency, systemic primary 11.3
17 spondylocostal dysostosis 3, autosomal recessive 11.2
18 fanconi anemia, complementation group a 11.2
19 superior semicircular canal dehiscence 11.2
20 subacute cerebellar degeneration 11.2
21 semicircular canal dehiscence syndrome 11.2
22 obsolete: secondary ciliary dyskinesia 11.2
23 corneal dystrophy 10.9
24 eye disease 10.5
25 hypercholesterolemia, familial, 1 10.4
26 keratopathy 10.4
27 hypertrophic cardiomyopathy 10.4
28 syncope 10.4
29 atrial standstill 1 10.3
30 acute chest syndrome 10.3
31 renal oncocytoma 10.3
32 familial lcat deficiency 10.3 APOE APOA2
33 suppression amblyopia 10.3
34 amblyopia 10.3
35 xanthoma disseminatum 10.3 APOE APOB
36 hyperlipoproteinemia, type iv 10.3 APOB APOA2
37 hemosiderosis 10.3
38 congestive heart failure 10.3
39 rare hereditary hemochromatosis 10.3
40 stromal dystrophy 10.3
41 defective apolipoprotein b-100 10.3 APOE APOB
42 huntington disease-like 1 10.3 APOE APOB
43 hyperlipoproteinemia, type v 10.2 APOE APOB
44 cardiac arrest 10.2
45 thalassemia 10.2
46 heart disease 10.2
47 sea-blue histiocyte disease 10.2 APOE APOB
48 corneal dystrophy, posterior polymorphous, 1 10.2
49 fish-eye disease 10.2
50 keratitis, hereditary 10.2

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:

32
# Description HPO Frequency HPO Source Accession
1 corneal dystrophy 32 HP:0001131
2 crystalline corneal dystrophy 32 HP:0007760

Symptoms via clinical synopsis from OMIM:

57
Eyes:
crystalline corneal dystrophy
cloudy central cornea

Clinical features from OMIM:

121800
Sources

Drugs & Therapeutics for Schnyder Corneal Dystrophy

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Controlled Evaluation of the Effect of Sequential Contraction Compression Device on the Symptomatology of Painful Diabetic Neuropathy (PDN) Recruiting NCT03331614
2 Pilot Study: Evaluating the Feasibility of Repetitive Transcranial Magnetic Stimulation Treatment Delivered at Individual-based, SCC-determined Frequency in Subjects Suffering From Major Depressive Disorder Enrolling by invitation NCT04040062

Search 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 29 UBIAD1
Sources

Anatomical Context for Schnyder Corneal Dystrophy

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MalaCards organs/tissues related to Schnyder Corneal Dystrophy:

41
Eye, Skin
Sources

Publications for Schnyder Corneal Dystrophy

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Articles related to Schnyder Corneal Dystrophy:

(show top 50) (show all 64)
# Title Authors PMID Year
1
The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes. 38 8 71
23169578 2013
2
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. 38 8 71
18176953 2008
3
Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. 38 8 71
17962451 2007
4
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. 38 8 71
17668063 2007
5
Panstromal Schnyder corneal dystrophy. A clinical pathologic report with quantitative analysis of corneal lipid composition. 38 8 71
8190477 1994
6
Fine mapping of the Schnyder's crystalline corneal dystrophy locus. 8 71
15034782 2004
7
Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts. 8 71
9450854 1998
8
Schnyder's dystrophy. Progression and metabolism. 8 71
3486394 1986
9
Recurrence of corneal dystrophy after excimer laser phototherapeutic keratectomy. 8
10442892 1999
10
The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36. 8
8894705 1996
11
Hereditary crystalline stromal dystrophy of Schnyder. I. Clinical features of a family with hyperlipoproteinaemia. 8
4537849 1972
12
Hereditary crystalline stromal dystrophy of Schnyder. II. Histopathology and ultrastructure. 8
4557903 1972
13
Degeneratio corneae cristallinea hereditaria. A clinical, genetical and histological study. 8
4172628 1968
14
Hereditary crystalline dystrophy of the cornea. 8
5297570 1967
15
CRYSTALLINE CORNEAL DYSTROPHY. REPORT OF A CASE. 8
14064898 1963
16
Hereditary crystalline degeneration of the cornea. 8
13133328 1953
17
Crystalline Dystrophy of the Cornea. 8
16693508 1950
18
Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase. 38
31323021 2019
19
Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3. 38
30950897 2019
20
Crystalline Keratopathy in Post-LASIK Ectasia: A Case Report. 38
30575622 2019
21
Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice. 38
30785396 2019
22
Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. 38
30084067 2018
23
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. 38
30223810 2018
24
A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation. 38
29977031 2018
25
Ex vivo 3D human corneal stroma model for Schnyder corneal dystrophy - role of autophagy in its pathogenesis and resolution. 38
28872183 2018
26
Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy. 38
29319599 2018
27
UbiA prenyltransferase domain-containing protein-1 modulates HMG-CoA reductase degradation to coordinate synthesis of sterol and nonsterol isoprenoids. 38
29167270 2018
28
Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies. 38
26961680 2016
29
Geranylgeranyl-regulated transport of the prenyltransferase UBIAD1 between membranes of the ER and Golgi. 38
27121042 2016
30
Mutational spectrum of Korean patients with corneal dystrophy. 38
26748743 2016
31
The Oskar Fehr Lecture. 38
27315290 2016
32
Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. 38
27382485 2016
33
The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductase. 38
25742604 2015
34
Molecular Pathogenesis of Corneal Dystrophies: Schnyder Dystrophy and Granular Corneal Dystrophy type 2. 38
26310152 2015
35
Structure of a membrane-embedded prenyltransferase homologous to UBIAD1. 38
25051182 2014
36
Phenotype-genotype correlation in patients with Schnyder corneal dystrophy. 38
24608252 2014
37
Crystalline subtype of pre-descemetic corneal dystrophy. 38
25279130 2014
38
Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression. 38
27896114 2014
39
A case of Schnyder corneal dystrophy with crystals. 38
24121409 2013
40
[Mutation in the UBIAD1 gene of a Chinese family with Schnyder crystal corneal dystrophy]. 38
23328470 2012
41
Clinical and pathological features of a non-crystalline form of Schnyder corneal dystrophy. 38
22411127 2012
42
Chameleon-like appearance of immunotactoid keratopathy. 38
21941171 2012
43
Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F). 38
21572737 2011
44
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. 38
22065921 2011
45
Differential diagnosis of Schnyder corneal dystrophy. 38
21540632 2011
46
Evidence of oxidative stress in Schnyder corneal dystrophy. 38
20530186 2010
47
Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. 38
20489584 2010
48
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. 38
20505825 2010
49
Down-regulation of TERE1/UBIAD1 activated Ras-MAPK signalling and induced cell proliferation. 38
23119142 2010
50
More on Schnyder corneal dystrophy. 38
19883857 2009
Sources

Variations for Schnyder Corneal Dystrophy

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ClinVar genetic disease variations for Schnyder Corneal Dystrophy:

6 (show top 50) (show all 69)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 UBIAD1 NM_013319.2(UBIAD1): c.305A> G (p.Asn102Ser) single nucleotide variant Pathogenic rs118203945 1:11333893-11333893 1:11273836-11273836
2 UBIAD1 NM_013319.2(UBIAD1): c.529G> C (p.Gly177Arg) single nucleotide variant Pathogenic rs118203946 1:11334117-11334117 1:11274060-11274060
3 UBIAD1 NM_013319.2(UBIAD1): c.355A> G (p.Arg119Gly) single nucleotide variant Pathogenic rs118203947 1:11333943-11333943 1:11273886-11273886
4 UBIAD1 NM_013319.2(UBIAD1): c.524C> T (p.Thr175Ile) single nucleotide variant Pathogenic rs118203948 1:11334112-11334112 1:11274055-11274055
5 UBIAD1 NM_013319.2(UBIAD1): c.695A> G (p.Asn232Ser) single nucleotide variant Pathogenic rs118203949 1:11345866-11345866 1:11285809-11285809
6 UBIAD1 NM_013319.2(UBIAD1): c.335A> G (p.Asp112Gly) single nucleotide variant Pathogenic rs118203950 1:11333923-11333923 1:11273866-11273866
7 UBIAD1 NM_013319.2(UBIAD1): c.511T> C (p.Ser171Pro) single nucleotide variant Pathogenic rs118203951 1:11334099-11334099 1:11274042-11274042
8 UBIAD1 NM_013319.2(UBIAD1): c.556G> A (p.Gly186Arg) single nucleotide variant Pathogenic rs118203952 1:11345727-11345727 1:11285670-11285670
9 UBIAD1 NM_013319.2(UBIAD1): c.708C> G (p.Asp236Glu) single nucleotide variant Pathogenic rs118203953 1:11345879-11345879 1:11285822-11285822
10 UBIAD1 NM_013319.2(UBIAD1): c.530G> A (p.Gly177Glu) single nucleotide variant Pathogenic rs397514669 1:11345701-11345701 1:11285644-11285644
11 UBIAD1 NM_013319.2(UBIAD1): c.-4T> C single nucleotide variant Uncertain significance rs770112579 1:11333585-11333585 1:11273528-11273528
12 UBIAD1 NM_013319.2(UBIAD1): c.370C> A (p.Arg124=) single nucleotide variant Uncertain significance rs748615089 1:11333958-11333958 1:11273901-11273901
13 UBIAD1 NM_013319.2(UBIAD1): c.*221_*223del deletion Uncertain significance rs886045069 1:11346409-11346411 1:11286352-11286354
14 UBIAD1 NM_013319.2(UBIAD1): c.*247T> C single nucleotide variant Uncertain significance rs886045070 1:11346435-11346435 1:11286378-11286378
15 UBIAD1 NM_013319.2(UBIAD1): c.*1167C> T single nucleotide variant Uncertain significance rs886045076 1:11347355-11347355 1:11287298-11287298
16 UBIAD1 NM_013319.2(UBIAD1): c.*1426C> T single nucleotide variant Uncertain significance rs886045077 1:11347614-11347614 1:11287557-11287557
17 UBIAD1 NM_013319.2(UBIAD1): c.*1459T> A single nucleotide variant Uncertain significance rs886045079 1:11347647-11347647 1:11287590-11287590
18 UBIAD1 NM_013319.2(UBIAD1): c.*1495T> C single nucleotide variant Uncertain significance rs886045080 1:11347683-11347683 1:11287626-11287626
19 UBIAD1 NM_013319.2(UBIAD1): c.*1810del deletion Uncertain significance rs781564164 1:11347998-11347998 1:11287941-11287941
20 UBIAD1 NM_013319.2(UBIAD1): c.*2187G> A single nucleotide variant Uncertain significance rs886045086 1:11348375-11348375 1:11288318-11288318
21 UBIAD1 NM_013319.2(UBIAD1): c.*1779C> T single nucleotide variant Uncertain significance rs886045083 1:11347967-11347967 1:11287910-11287910
22 UBIAD1 NM_013319.2(UBIAD1): c.*1719A> G single nucleotide variant Uncertain significance rs886045082 1:11347907-11347907 1:11287850-11287850
23 UBIAD1 NM_013319.2(UBIAD1): c.*1494A> G single nucleotide variant Uncertain significance rs868102858 1:11347682-11347682 1:11287625-11287625
24 UBIAD1 NM_013319.2(UBIAD1): c.*1427T> C single nucleotide variant Uncertain significance rs886045078 1:11347615-11347615 1:11287558-11287558
25 UBIAD1 NM_013319.2(UBIAD1): c.*1010C> T single nucleotide variant Uncertain significance rs886045075 1:11347198-11347198 1:11287141-11287141
26 UBIAD1 NM_013319.2(UBIAD1): c.*997C> T single nucleotide variant Uncertain significance rs886045074 1:11347185-11347185 1:11287128-11287128
27 UBIAD1 NM_013319.2(UBIAD1): c.*619A> G single nucleotide variant Uncertain significance rs886045072 1:11346807-11346807 1:11286750-11286750
28 UBIAD1 NM_013319.2(UBIAD1): c.751C> A (p.Leu251Ile) single nucleotide variant Uncertain significance rs780282620 1:11345922-11345922 1:11285865-11285865
29 UBIAD1 NM_013319.2(UBIAD1): c.*1265T> A single nucleotide variant Uncertain significance rs372234308 1:11347453-11347453 1:11287396-11287396
30 UBIAD1 NM_013319.2(UBIAD1): c.-104G> A single nucleotide variant Uncertain significance rs559993089 1:11333485-11333485 1:11273428-11273428
31 UBIAD1 NM_013319.2(UBIAD1): c.-311C> T single nucleotide variant Uncertain significance rs886045057 1:11333278-11333278 1:11273221-11273221
32 UBIAD1 NM_013319.2(UBIAD1): c.*847A> T single nucleotide variant Uncertain significance rs886045073 1:11347035-11347035 1:11286978-11286978
33 UBIAD1 NM_013319.2(UBIAD1): c.*1535A> T single nucleotide variant Uncertain significance rs536904644 1:11347723-11347723 1:11287666-11287666
34 UBIAD1 NM_013319.2(UBIAD1): c.60A> C (p.Lys20Asn) single nucleotide variant Uncertain significance rs764215999 1:11333648-11333648 1:11273591-11273591
35 UBIAD1 NM_013319.2(UBIAD1): c.*2115C> G single nucleotide variant Uncertain significance rs886045085 1:11348303-11348303 1:11288246-11288246
36 UBIAD1 NM_013319.2(UBIAD1): c.*1586C> T single nucleotide variant Uncertain significance rs886045081 1:11347774-11347774 1:11287717-11287717
37 UBIAD1 NM_013319.2(UBIAD1): c.*675A> G single nucleotide variant Uncertain significance rs376227906 1:11346863-11346863 1:11286806-11286806
38 UBIAD1 NM_013319.2(UBIAD1): c.*612T> C single nucleotide variant Uncertain significance rs886045071 1:11346800-11346800 1:11286743-11286743
39 UBIAD1 NM_013319.2(UBIAD1): c.*239G> A single nucleotide variant Uncertain significance rs766089759 1:11346427-11346427 1:11286370-11286370
40 UBIAD1 NM_013319.2(UBIAD1): c.*465_*466del deletion Uncertain significance rs777958656 1:11346653-11346654 1:11286596-11286597
41 UBIAD1 NM_013319.2(UBIAD1): c.494T> G (p.Phe165Cys) single nucleotide variant Uncertain significance rs886045058 1:11334082-11334082 1:11274025-11274025
42 UBIAD1 NM_013319.2(UBIAD1): c.298T> G (p.Leu100Val) single nucleotide variant Likely benign rs140612649 1:11333886-11333886 1:11273829-11273829
43 UBIAD1 NM_013319.2(UBIAD1): c.*420C> T single nucleotide variant Likely benign rs112789142 1:11346608-11346608 1:11286551-11286551
44 UBIAD1 NM_013319.2(UBIAD1): c.*148A> G single nucleotide variant Likely benign rs11580061 1:11346336-11346336 1:11286279-11286279
45 UBIAD1 NM_013319.2(UBIAD1): c.*94G> A single nucleotide variant Likely benign rs535726476 1:11346282-11346282 1:11286225-11286225
46 UBIAD1 NM_013319.2(UBIAD1): c.867C> T (p.Thr289=) single nucleotide variant Likely benign rs113307594 1:11346038-11346038 1:11285981-11285981
47 UBIAD1 NM_013319.2(UBIAD1): c.*531C> A single nucleotide variant Likely benign rs550736303 1:11346719-11346719 1:11286662-11286662
48 UBIAD1 NM_013319.2(UBIAD1): c.837C> T (p.Cys279=) single nucleotide variant Likely benign rs201111281 1:11346008-11346008 1:11285951-11285951
49 UBIAD1 NM_013319.2(UBIAD1): c.417C> T (p.Tyr139=) single nucleotide variant Likely benign rs377764711 1:11334005-11334005 1:11273948-11273948
50 UBIAD1 NM_013319.2(UBIAD1): c.224C> T (p.Ser75Phe) single nucleotide variant Likely benign rs114000606 1:11333812-11333812 1:11273755-11273755

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

74 (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

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 66
Show member pathways
 12.03 APOE APOB APOA2
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 11.86 UBIAD1 APOE APOB APOA2
3
Platelet homeostasis 66
Show member pathways
 11.71 SLC8A3 ATP2B4 APOB
4
Statin Pathway 1
Show member pathways
 11.4 APOE APOB APOA2
5
Metabolism of fat-soluble vitamins 66
Show member pathways
 11.25 UBIAD1 APOE APOB APOA2
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 UBIAD1 SLC8A3 CLSTN1 APOB
2 endoplasmic reticulum GO:0005783 9.8 UBIAD1 SLC8A3 CLSTN1 APOE APOB
3 glutamatergic synapse GO:0098978 9.67 CLSTN1 ATP2B4 APOE
4 endoplasmic reticulum lumen GO:0005788 9.65 APOE APOB APOA2
5 early endosome GO:0005769 9.63 APOE APOB APOA2
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.43 APOE APOB
7 high-density lipoprotein particle GO:0034364 9.37 APOE APOA2
8 endocytic vesicle lumen GO:0071682 9.32 APOE APOB
9 low-density lipoprotein particle GO:0034362 9.26 APOE APOB
10 intermediate-density lipoprotein particle GO:0034363 9.16 APOE APOB
11 very-low-density lipoprotein particle GO:0034361 9.13 APOE APOB APOA2
12 chylomicron GO:0042627 8.8 APOE APOB APOA2
13 plasma membrane GO:0005886 10.07 SLC8A3 KCNJ9 KCNJ15 CLSTN1 ATP2B4 APOE

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

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

Sources for Schnyder Corneal Dystrophy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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