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SCCD
MCID: SCH076
MIFTS: 49

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 56 12 52 58 73 36 15
Schnyder Crystalline Corneal Dystrophy 56 12 52 58 73 29 6 71
Sccd 56 12 52 58 73
Corneal Dystrophy, Schnyder Type 56 73 13
Hereditary Crystalline Stromal Dystrophy of Schnyder 12 58
Corneal Dystrophy, Crystalline, of Schnyder 56 43
Corneal Dystrophy Crystalline of Schnyder 12 52
Crystalline Stromal Dystrophy 12 58
Scd 58 73
Schnyder Crystalline Dystrophy Sine Crystals 58
Dystrophy, Corneal, Crystalline, Schnyder 39
Corneal Dystrophy, Schnyder 56

Characteristics:

Orphanet epidemiological data:

58
schnyder corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
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: 33
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060456
OMIM 56 121800
KEGG 36 H00959
SNOMED-CT 67 39662004
MESH via Orphanet 44 C535475
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 72 C0271287
Orphanet 58 ORPHA98967
MedGen 41 C0271287
SNOMED-CT via HPO 68 263681008 419395007 5587004
UMLS 71 C0271287
Sources

Summaries for Schnyder Corneal Dystrophy

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NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98967 Definition Schnyder 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. Epidemiology The prevalence of this form of corneal dystrophy is not known. Clinical description Lesions 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. Etiology SCD is caused by various mutations in the UBIAD1 gene (1p36.22). Diagnostic methods Typically, 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 diagnosis SCD should be differentiated from other lipid keratopathies and particular from lecithin cholesterol acyltransferase disease (LCAT deficiency, see this term). Genetic counseling An autosomal dominant pattern of inheritance has been reported. Management and treatment The 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 hypercholesterolemia, familial, 1 and tangier 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 fat-soluble vitamins. Affiliated tissues include eye, heart and liver, and related phenotypes are corneal dystrophy and crystalline corneal dystrophy

OMIM : 56 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 : 36 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 : 73 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.

Sources

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 168)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 1 30.8 HMGCR APOE APOB APOA2
2 tangier disease 30.6 APOE APOB APOA2
3 lipid metabolism disorder 30.5 HMGCR APOE APOB APOA2
4 coronary heart disease 1 30.4 HMGCR APOE APOB APOA2
5 granular corneal dystrophy 29.7 TGFBI KRT3 KRT12
6 corneal dystrophy 29.4 UBIAD1 TGFBI LZIC KRT3 KRT12 HMGCR
7 corneal dystrophy, posterior polymorphous, 1 29.4 UBIAD1 TGFBI KRT3 KRT12
8 stromal dystrophy 28.7 UBIAD1 TGFBI SLC8A2 KRT3 KRT12 C1orf127
9 sickle cell disease 12.4
10 ehlers-danlos syndrome, spondylodysplastic type, 3 11.8
11 sickle cell anemia 11.8
12 cardiac conduction defect 11.6
13 hemoglobinopathy 11.6
14 qt interval, variation in 11.5
15 carnitine deficiency, systemic primary 11.3
16 diabetes mellitus, noninsulin-dependent 11.3
17 body mass index quantitative trait locus 11 11.3
18 abdominal obesity-metabolic syndrome 1 11.3
19 dysostosis 11.3
20 homocystinuria 11.3
21 spondylocostal dysostosis 3, autosomal recessive 11.2
22 superior semicircular canal dehiscence 11.2
23 subacute cerebellar degeneration 11.2
24 semicircular canal dehiscence syndrome 11.2
25 fanconi anemia, complementation group d2 11.2
26 fanconi anemia, complementation group a 11.2
27 reye syndrome 11.2
28 overnutrition 11.2
29 lipid storage disease 11.2
30 eye disease 10.5
31 xanthoma disseminatum 10.4 APOE APOB
32 hypertrophic cardiomyopathy 10.4
33 familial lcat deficiency 10.4 APOE APOA2
34 hypercholesterolemia, familial, 2 10.4 APOE APOB
35 keratopathy 10.4
36 syncope 10.4
37 defective apolipoprotein b-100 10.3 HMGCR APOE APOB
38 generalized atherosclerosis 10.3 APOE APOB
39 renal oncocytoma 10.3
40 homozygous familial hypercholesterolemia 10.3 HMGCR APOE APOB
41 hyperlipoproteinemia, type v 10.3 HMGCR APOE APOB
42 atrial standstill 1 10.3
43 cardiac arrest 10.3
44 acute chest syndrome 10.3
45 lipoprotein glomerulopathy 10.3 APOE APOB APOA2
46 suppression amblyopia 10.3
47 amblyopia 10.3
48 leukodystrophy, hypomyelinating, 3 10.3 APOB APOA2
49 hyperlipoproteinemia, type iv 10.3 APOE APOB
50 huntington disease-like 1 10.3 APOE APOB APOA2

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:

31
# Description HPO Frequency HPO Source Accession
1 corneal dystrophy 31 HP:0001131
2 crystalline corneal dystrophy 31 HP:0007760

Symptoms via clinical synopsis from OMIM:

56
Eyes:
crystalline corneal dystrophy
cloudy central cornea

Clinical features from OMIM:

121800

GenomeRNAi Phenotypes related to Schnyder Corneal Dystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.8 APOB APOE HMGCR
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) Unknown status 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

Sources

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:

40
Eye, Heart, Liver, Endothelial, Skin, Bone, Spinal Cord
Sources

Publications for Schnyder Corneal Dystrophy

About this section

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. 61 56 6
23169578 2013
2
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. 61 56 6
18176953 2008
3
Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. 61 56 6
17962451 2007
4
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. 61 56 6
17668063 2007
5
Panstromal Schnyder corneal dystrophy. A clinical pathologic report with quantitative analysis of corneal lipid composition. 61 56 6
8190477 1994
6
Fine mapping of the Schnyder's crystalline corneal dystrophy locus. 56 6
15034782 2004
7
Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts. 56 6
9450854 1998
8
Schnyder's dystrophy. Progression and metabolism. 56 6
3486394 1986
9
Recurrence of corneal dystrophy after excimer laser phototherapeutic keratectomy. 56
10442892 1999
10
The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36. 56
8894705 1996
11
Hereditary crystalline stromal dystrophy of Schnyder. II. Histopathology and ultrastructure. 56
4557903 1972
12
Hereditary crystalline stromal dystrophy of Schnyder. I. Clinical features of a family with hyperlipoproteinaemia. 56
4537849 1972
13
Degeneratio corneae cristallinea hereditaria. A clinical, genetical and histological study. 56
4172628 1968
14
Hereditary crystalline dystrophy of the cornea. 56
5297570 1967
15
CRYSTALLINE CORNEAL DYSTROPHY. REPORT OF A CASE. 56
14064898 1963
16
Hereditary crystalline degeneration of the cornea. 56
13133328 1953
17
Crystalline Dystrophy of the Cornea. 56
16693508 1950
18
Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase. 61
31323021 2019
19
Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3. 61
30950897 2019
20
Crystalline Keratopathy in Post-LASIK Ectasia: A Case Report. 61
30575622 2019
21
Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice. 61
30785396 2019
22
Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. 61
30084067 2018
23
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. 61
30223810 2018
24
A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation. 61
29977031 2018
25
Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy. 61
29319599 2018
26
Ex vivo 3D human corneal stroma model for Schnyder corneal dystrophy - role of autophagy in its pathogenesis and resolution. 61
28872183 2018
27
UbiA prenyltransferase domain-containing protein-1 modulates HMG-CoA reductase degradation to coordinate synthesis of sterol and nonsterol isoprenoids. 61
29167270 2018
28
Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies. 61
26961680 2016
29
Geranylgeranyl-regulated transport of the prenyltransferase UBIAD1 between membranes of the ER and Golgi. 61
27121042 2016
30
Mutational spectrum of Korean patients with corneal dystrophy. 61
26748743 2016
31
The Oskar Fehr Lecture. 61
27315290 2016
32
Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. 61
27382485 2016
33
The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductase. 61
25742604 2015
34
Molecular Pathogenesis of Corneal Dystrophies: Schnyder Dystrophy and Granular Corneal Dystrophy type 2. 61
26310152 2015
35
Structure of a membrane-embedded prenyltransferase homologous to UBIAD1. 61
25051182 2014
36
Phenotype-genotype correlation in patients with Schnyder corneal dystrophy. 61
24608252 2014
37
Crystalline subtype of pre-descemetic corneal dystrophy. 61
25279130 2014
38
Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression. 61
27896114 2014
39
A case of Schnyder corneal dystrophy with crystals. 61
24121409 2013
40
[Mutation in the UBIAD1 gene of a Chinese family with Schnyder crystal corneal dystrophy]. 61
23328470 2012
41
Clinical and pathological features of a non-crystalline form of Schnyder corneal dystrophy. 61
22411127 2012
42
Chameleon-like appearance of immunotactoid keratopathy. 61
21941171 2012
43
Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F). 61
21572737 2011
44
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy. 61
22065921 2011
45
Differential diagnosis of Schnyder corneal dystrophy. 61
21540632 2011
46
Evidence of oxidative stress in Schnyder corneal dystrophy. 61
20530186 2010
47
Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. 61
20489584 2010
48
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. 61
20505825 2010
49
Down-regulation of TERE1/UBIAD1 activated Ras-MAPK signalling and induced cell proliferation. 61
23119142 2010
50
More on Schnyder corneal dystrophy. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UBIAD1 NM_013319.2(UBIAD1):c.530G>A (p.Gly177Glu)SNV Pathogenic 41408 rs397514669 1:11345701-11345701 1:11285644-11285644
2 UBIAD1 NM_013319.2(UBIAD1):c.708C>G (p.Asp236Glu)SNV Pathogenic 864 rs118203953 1:11345879-11345879 1:11285822-11285822
3 UBIAD1 NM_013319.2(UBIAD1):c.556G>A (p.Gly186Arg)SNV Pathogenic 863 rs118203952 1:11345727-11345727 1:11285670-11285670
4 UBIAD1 NM_013319.2(UBIAD1):c.511T>C (p.Ser171Pro)SNV Pathogenic 862 rs118203951 1:11334099-11334099 1:11274042-11274042
5 UBIAD1 NM_013319.2(UBIAD1):c.335A>G (p.Asp112Gly)SNV Pathogenic 861 rs118203950 1:11333923-11333923 1:11273866-11273866
6 UBIAD1 NM_013319.2(UBIAD1):c.695A>G (p.Asn232Ser)SNV Pathogenic 860 rs118203949 1:11345866-11345866 1:11285809-11285809
7 UBIAD1 NM_013319.2(UBIAD1):c.524C>T (p.Thr175Ile)SNV Pathogenic 859 rs118203948 1:11334112-11334112 1:11274055-11274055
8 UBIAD1 NM_013319.2(UBIAD1):c.355A>G (p.Arg119Gly)SNV Pathogenic 858 rs118203947 1:11333943-11333943 1:11273886-11273886
9 UBIAD1 NM_013319.2(UBIAD1):c.529G>C (p.Gly177Arg)SNV Pathogenic 857 rs118203946 1:11334117-11334117 1:11274060-11274060
10 UBIAD1 NM_013319.2(UBIAD1):c.305A>G (p.Asn102Ser)SNV Pathogenic 856 rs118203945 1:11333893-11333893 1:11273836-11273836
11 UBIAD1 NM_013319.2(UBIAD1):c.370C>A (p.Arg124=)SNV Uncertain significance 291823 rs748615089 1:11333958-11333958 1:11273901-11273901
12 UBIAD1 NM_013319.2(UBIAD1):c.-4T>CSNV Uncertain significance 291819 rs770112579 1:11333585-11333585 1:11273528-11273528
13 UBIAD1 NM_013319.2(UBIAD1):c.*1779C>TSNV Uncertain significance 291906 rs886045083 1:11347967-11347967 1:11287910-11287910
14 UBIAD1 NM_013319.2(UBIAD1):c.*1265T>ASNV Uncertain significance 291893 rs372234308 1:11347453-11347453 1:11287396-11287396
15 UBIAD1 NM_013319.2(UBIAD1):c.*1010C>TSNV Uncertain significance 291890 rs886045075 1:11347198-11347198 1:11287141-11287141
16 UBIAD1 NM_013319.2(UBIAD1):c.*997C>TSNV Uncertain significance 291888 rs886045074 1:11347185-11347185 1:11287128-11287128
17 UBIAD1 NM_013319.2(UBIAD1):c.*619A>GSNV Uncertain significance 291881 rs886045072 1:11346807-11346807 1:11286750-11286750
18 UBIAD1 NM_013319.2(UBIAD1):c.751C>A (p.Leu251Ile)SNV Uncertain significance 291857 rs780282620 1:11345922-11345922 1:11285865-11285865
19 UBIAD1 NM_013319.2(UBIAD1):c.-104G>ASNV Uncertain significance 291817 rs559993089 1:11333485-11333485 1:11273428-11273428
20 UBIAD1 NM_013319.2(UBIAD1):c.-311C>TSNV Uncertain significance 291815 rs886045057 1:11333278-11333278 1:11273221-11273221
21 UBIAD1 NM_013319.2(UBIAD1):c.*1167C>TSNV Uncertain significance 291892 rs886045076 1:11347355-11347355 1:11287298-11287298
22 UBIAD1 NM_013319.2(UBIAD1):c.*247T>CSNV Uncertain significance 291875 rs886045070 1:11346435-11346435 1:11286378-11286378
23 UBIAD1 NM_013319.2(UBIAD1):c.*221_*223deldeletion Uncertain significance 291873 rs886045069 1:11346407-11346409 1:11286350-11286352
24 UBIAD1 NM_013319.2(UBIAD1):c.*1426C>TSNV Uncertain significance 291895 rs886045077 1:11347614-11347614 1:11287557-11287557
25 UBIAD1 NM_013319.2(UBIAD1):c.*1459T>ASNV Uncertain significance 291897 rs886045079 1:11347647-11347647 1:11287590-11287590
26 UBIAD1 NM_013319.2(UBIAD1):c.*1495T>CSNV Uncertain significance 291899 rs886045080 1:11347683-11347683 1:11287626-11287626
27 UBIAD1 NM_013319.2(UBIAD1):c.*1810deldeletion Uncertain significance 291907 rs781564164 1:11347986-11347986 1:11287929-11287929
28 UBIAD1 NM_013319.2(UBIAD1):c.*2187G>ASNV Uncertain significance 291910 rs886045086 1:11348375-11348375 1:11288318-11288318
29 UBIAD1 NM_013319.2(UBIAD1):c.494T>G (p.Phe165Cys)SNV Uncertain significance 291826 rs886045058 1:11334082-11334082 1:11274025-11274025
30 UBIAD1 NM_013319.2(UBIAD1):c.*239G>ASNV Uncertain significance 291874 rs766089759 1:11346427-11346427 1:11286370-11286370
31 UBIAD1 NM_013319.2(UBIAD1):c.*465_*466deldeletion Uncertain significance 291877 rs777958656 1:11346653-11346654 1:11286596-11286597
32 UBIAD1 NM_013319.2(UBIAD1):c.*612T>CSNV Uncertain significance 291880 rs886045071 1:11346800-11346800 1:11286743-11286743
33 UBIAD1 NM_013319.2(UBIAD1):c.*675A>GSNV Uncertain significance 291882 rs376227906 1:11346863-11346863 1:11286806-11286806
34 UBIAD1 NM_013319.2(UBIAD1):c.*1586C>TSNV Uncertain significance 291903 rs886045081 1:11347774-11347774 1:11287717-11287717
35 UBIAD1 NM_013319.2(UBIAD1):c.*2115C>GSNV Uncertain significance 291909 rs886045085 1:11348303-11348303 1:11288246-11288246
36 UBIAD1 NM_013319.2(UBIAD1):c.60A>C (p.Lys20Asn)SNV Uncertain significance 291820 rs764215999 1:11333648-11333648 1:11273591-11273591
37 UBIAD1 NM_013319.2(UBIAD1):c.*847A>TSNV Uncertain significance 291885 rs886045073 1:11347035-11347035 1:11286978-11286978
38 UBIAD1 NM_013319.2(UBIAD1):c.*1535A>TSNV Uncertain significance 291901 rs536904644 1:11347723-11347723 1:11287666-11287666
39 UBIAD1 NM_013319.2(UBIAD1):c.*1719A>GSNV Uncertain significance 291905 rs886045082 1:11347907-11347907 1:11287850-11287850
40 UBIAD1 NM_013319.2(UBIAD1):c.*1494A>GSNV Uncertain significance 291898 rs868102858 1:11347682-11347682 1:11287625-11287625
41 UBIAD1 NM_013319.2(UBIAD1):c.*1427T>CSNV Uncertain significance 291896 rs886045078 1:11347615-11347615 1:11287558-11287558
42 UBIAD1 NM_013319.2(UBIAD1):c.*1671G>ASNV Likely benign 291904 rs544393884 1:11347859-11347859 1:11287802-11287802
43 UBIAD1 NM_013319.2(UBIAD1):c.224C>T (p.Ser75Phe)SNV Likely benign 291821 rs114000606 1:11333812-11333812 1:11273755-11273755
44 UBIAD1 NM_013319.2(UBIAD1):c.417C>T (p.Tyr139=)SNV Likely benign 291824 rs377764711 1:11334005-11334005 1:11273948-11273948
45 UBIAD1 NM_013319.2(UBIAD1):c.837C>T (p.Cys279=)SNV Likely benign 291863 rs201111281 1:11346008-11346008 1:11285951-11285951
46 UBIAD1 NM_013319.2(UBIAD1):c.*531C>ASNV Likely benign 291878 rs550736303 1:11346719-11346719 1:11286662-11286662
47 UBIAD1 NM_013319.2(UBIAD1):c.*420C>TSNV Likely benign 291876 rs112789142 1:11346608-11346608 1:11286551-11286551
48 UBIAD1 NM_013319.2(UBIAD1):c.867C>T (p.Thr289=)SNV Likely benign 291864 rs113307594 1:11346038-11346038 1:11285981-11285981
49 UBIAD1 NM_013319.2(UBIAD1):c.*94G>ASNV Likely benign 291871 rs535726476 1:11346282-11346282 1:11286225-11286225
50 UBIAD1 NM_013319.2(UBIAD1):c.*148A>GSNV Likely benign 291872 rs11580061 1:11346336-11346336 1:11286279-11286279

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

73 (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

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Expression for Schnyder Corneal Dystrophy

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Search GEO for disease gene expression data for Schnyder Corneal Dystrophy.
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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 65
Show member pathways
 12.2 SOAT1 APOE APOB APOA2
2
Metabolism of fat-soluble vitamins 65
Show member pathways
 11.95 UBIAD1 APOE APOB APOA2
3
Platelet homeostasis 65
Show member pathways
 11.83 SLC8A3 SLC8A2 ATP2B4 APOB
4
Statin Pathway 1
Show member pathways
 11.09 SOAT1 HMGCR APOE APOB APOA2
5
Endocrine and other factor-regulated calcium reabsorption 36
11.06 SLC8A3 SLC8A2 ATP2B4
6
Mineral absorption 36
11.02 SLC8A3 SLC8A2 S100G ATP2B4
Sources

GO Terms for Schnyder Corneal Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 endocytic vesicle lumen GO:0071682 9.37 APOE APOB
2 high-density lipoprotein particle GO:0034364 9.33 APOE APOB APOA2
3 low-density lipoprotein particle GO:0034362 9.32 APOE APOB
4 intermediate-density lipoprotein particle GO:0034363 9.26 APOE APOB
5 very-low-density lipoprotein particle GO:0034361 9.13 APOE APOB APOA2
6 chylomicron GO:0042627 8.8 APOE APOB APOA2

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.88 TGFBI APOE APOB APOA2
2 lipid transport GO:0006869 9.81 APOE APOB APOA2
3 calcium ion transmembrane transport GO:0070588 9.8 SLC8A3 SLC8A2 ATP2B4
4 steroid metabolic process GO:0008202 9.76 SOAT1 HMGCR APOE APOB
5 cellular calcium ion homeostasis GO:0006874 9.73 SLC8A3 SLC8A2 ATP2B4 APOE
6 retinoid metabolic process GO:0001523 9.71 APOE APOB APOA2
7 cholesterol homeostasis GO:0042632 9.71 SOAT1 APOE APOB APOA2
8 regulation of cardiac conduction GO:1903779 9.67 SLC8A3 SLC8A2 ATP2B4
9 artery morphogenesis GO:0048844 9.65 APOE APOB
10 low-density lipoprotein particle clearance GO:0034383 9.64 SOAT1 APOB
11 cholesterol transport GO:0030301 9.64 APOB APOA2
12 negative regulation of protein secretion GO:0050709 9.62 HMGCR APOE
13 reverse cholesterol transport GO:0043691 9.62 APOE APOA2
14 high-density lipoprotein particle remodeling GO:0034375 9.61 APOE APOA2
15 high-density lipoprotein particle assembly GO:0034380 9.61 APOE APOA2
16 phospholipid efflux GO:0033700 9.6 APOE APOA2
17 high-density lipoprotein particle clearance GO:0034384 9.59 APOE APOA2
18 very-low-density lipoprotein particle assembly GO:0034379 9.58 SOAT1 APOB
19 calcium ion import across plasma membrane GO:0098703 9.57 SLC8A3 ATP2B4
20 chylomicron remnant clearance GO:0034382 9.56 APOE APOB
21 positive regulation of cholesterol esterification GO:0010873 9.55 APOE APOA2
22 lipoprotein metabolic process GO:0042157 9.54 APOE APOB APOA2
23 lipoprotein biosynthetic process GO:0042158 9.52 APOE APOB
24 very-low-density lipoprotein particle clearance GO:0034447 9.51 APOE APOB
25 low-density lipoprotein particle remodeling GO:0034374 9.5 APOE APOB APOA2
26 lipoprotein catabolic process GO:0042159 9.48 APOE APOB
27 chylomicron assembly GO:0034378 9.43 APOE APOB APOA2
28 cholesterol metabolic process GO:0008203 9.35 SOAT1 HMGCR APOE APOB APOA2
29 chylomicron remodeling GO:0034371 9.33 APOE APOB APOA2
30 cholesterol efflux GO:0033344 8.92 SOAT1 APOE APOB APOA2

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.5 APOE APOB APOA2
2 low-density lipoprotein particle receptor binding GO:0050750 9.37 APOE APOB
3 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOE APOA2
4 calcium:sodium antiporter activity GO:0005432 9.16 SLC8A3 SLC8A2
5 lipid transporter activity GO:0005319 9.13 APOE APOB APOA2
6 intermembrane cholesterol transfer activity GO:0120020 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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