BCS2
MCID: BRT029
MIFTS: 41

Brittle Cornea Syndrome 2 (BCS2) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Brittle Cornea Syndrome 2

Aliases & Descriptions for Brittle Cornea Syndrome 2:

Name: Brittle Cornea Syndrome 2 54 12 24 66 29 13 69
Brittle Cornea Syndrome 12 50 56 13 14
Ehlers-Danlos Syndrome Type 6 42 69
Kyphoscoliosis Type 12 29
Bcs2 24 66
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 50
Fragilitas Oculi with Joint Hyperextensibility 50
Dysgenesis Mesodermalis Corneae Et Sclerae 50
Type Vib Ehlers-Danlos Syndrome 12
Ehlers-Danlos Syndrome 6b 69

Characteristics:

Orphanet epidemiological data:

56
brittle cornea syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
brittle cornea syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614170
Disease Ontology 12 DOID:14775
SNOMED-CT 64 25606004
Orphanet 56 ORPHA90354
ICD10 via Orphanet 34 Q79.6
MedGen 40 C3280011
UMLS 69 C0268342

Summaries for Brittle Cornea Syndrome 2

NIH Rare Diseases : 50 brittle cornea syndrome (bcs) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white part of the eyes (blue sclerae); hypermobile joints; hyperelastic skin; hearing defects; and dental abnormalities. there are 2 types of bcs which are distinguished by the mutated gene that causes the condition. bcs type 1 is caused by mutations in the znf469 gene and bcs type 2 is caused by mutations in the prdm5 gene. bcs is inherited in an autosomal recessive manner. last updated: 2/17/2012

MalaCards based summary : Brittle Cornea Syndrome 2, also known as brittle cornea syndrome, is related to brittle cornea syndrome 1 and musculocontractural ehlers-danlos syndrome, and has symptoms including myalgia, abnormality of epiphysis morphology and gait disturbance. An important gene associated with Brittle Cornea Syndrome 2 is PRDM5 (PR/SET Domain 5), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drugs Folic Acid and Riboflavin have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone.

UniProtKB/Swiss-Prot : 66 Brittle cornea syndrome 2: A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints.

Description from OMIM: 614170

Related Diseases for Brittle Cornea Syndrome 2

Graphical network of the top 20 diseases related to Brittle Cornea Syndrome 2:



Diseases related to Brittle Cornea Syndrome 2

Symptoms & Phenotypes for Brittle Cornea Syndrome 2

Symptoms by clinical synopsis from OMIM:

614170

Clinical features from OMIM:

614170

Human phenotypes related to Brittle Cornea Syndrome 2:

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myalgia 56 32 Frequent (79-30%) HP:0003326
2 abnormality of epiphysis morphology 56 32 Occasional (29-5%) HP:0005930
3 gait disturbance 56 32 Frequent (79-30%) HP:0001288
4 scoliosis 56 32 Occasional (29-5%) HP:0002650
5 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
6 abnormality of the teeth 56 32 Occasional (29-5%) HP:0000164
7 pes planus 56 32 Occasional (29-5%) HP:0001763
8 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
9 neonatal hypotonia 56 32 Occasional (29-5%) HP:0001319
10 osteoporosis 56 32 Frequent (79-30%) HP:0000939
11 cleft palate 56 32 Occasional (29-5%) HP:0000175
12 hernia 56 32 Occasional (29-5%) HP:0100790
13 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
14 corneal dystrophy 56 32 Very frequent (99-80%) HP:0001131
15 corneal erosion 56 32 Occasional (29-5%) HP:0200020
16 glaucoma 56 32 Occasional (29-5%) HP:0000501
17 retinal detachment 56 32 Occasional (29-5%) HP:0000541
18 visual loss 56 32 Frequent (79-30%) HP:0000572
19 arachnodactyly 56 32 Occasional (29-5%) HP:0001166
20 mitral valve prolapse 56 32 Occasional (29-5%) HP:0001634
21 conductive hearing impairment 56 32 Frequent (79-30%) HP:0000405
22 bruising susceptibility 56 32 Frequent (79-30%) HP:0000978
23 pulmonic stenosis 56 32 Occasional (29-5%) HP:0001642
24 hallux valgus 56 32 Occasional (29-5%) HP:0001822
25 blue sclerae 56 32 Frequent (79-30%) HP:0000592
26 hyperextensible skin 56 32 Very frequent (99-80%) HP:0000974
27 keratoglobus 56 32 Very frequent (99-80%) HP:0001119
28 increased susceptibility to fractures 56 32 Occasional (29-5%) HP:0002659
29 severe myopia 56 32 Very frequent (99-80%) HP:0011003
30 camptodactyly 56 32 Occasional (29-5%) HP:0012385
31 soft skin 56 32 Very frequent (99-80%) HP:0000977
32 corneal scarring 56 32 Frequent (79-30%) HP:0000559
33 abnormality of hair pigmentation 56 32 Frequent (79-30%) HP:0009887
34 inguinal hernia 32 HP:0000023
35 hearing impairment 32 HP:0000365
36 umbilical hernia 32 HP:0001537
37 megalocornea 32 HP:0000485
38 myopia 32 HP:0000545
39 flat cornea 32 HP:0007720
40 recurrent fractures 32 HP:0002757
41 sclerocornea 32 HP:0000647
42 keratoconus 32 HP:0000563
43 decreased corneal thickness 56 Very frequent (99-80%)

UMLS symptoms related to Brittle Cornea Syndrome 2:


joint laxity, unspecified visual loss

Drugs & Therapeutics for Brittle Cornea Syndrome 2

Drugs for Brittle Cornea Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
2
Riboflavin Approved, Nutraceutical, Vet_approved 83-88-5 493570
3 Dermatologic Agents
4 Micronutrients
5 Photosensitizing Agents
6 Trace Elements
7 Vitamin B Complex
8 Vitamins
9 Liver Extracts
10 Aromatase Inhibitors
11 Estrogen Antagonists
12 Estrogens
13 Hormone Antagonists
14 Hormones
15 Hormones, Hormone Substitutes, and Hormone Antagonists
16 Steroid Synthesis Inhibitors
17 Folate Nutraceutical
18 Vitamin B2 Nutraceutical
19 Vitamin B9 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527
2 How Breast Conservative Surgery (BCS) Affects Women's Daily Activities On Post-Operation 2 Days? Unknown status NCT00265213
3 The Association With Peptic Ulcer Disease and Hepatic Vein Pressure Gradient Completed NCT01944878
4 Current Practice Pattern and Effect of Training in Upper Endoscopic Biopsy Completed NCT02044536
5 Exercise to Prevent Aromatase Inhibitor Side Effects in Breast Cancer Patients Terminated NCT01954706

Search NIH Clinical Center for Brittle Cornea Syndrome 2

Cochrane evidence based reviews: ehlers-danlos syndrome type 6

Genetic Tests for Brittle Cornea Syndrome 2

Genetic tests related to Brittle Cornea Syndrome 2:

id Genetic test Affiliating Genes
1 Brittle Cornea Syndrome 2 29 24 PRDM5
2 Kyphoscoliosis 29

Anatomical Context for Brittle Cornea Syndrome 2

MalaCards organs/tissues related to Brittle Cornea Syndrome 2:

39
Skin, Eye, Bone

Publications for Brittle Cornea Syndrome 2

Variations for Brittle Cornea Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Brittle Cornea Syndrome 2:

66
id Symbol AA change Variation ID SNP ID
1 PRDM5 p.Tyr107Cys VAR_066393 rs387907111

ClinVar genetic disease variations for Brittle Cornea Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRDM5 NM_018699.3(PRDM5): c.946_1623del deletion Pathogenic
2 PRDM5 NM_018699.3(PRDM5): c.1768C> T (p.Arg590Ter) single nucleotide variant Pathogenic rs387907110 GRCh37 Chromosome 4, 121616391: 121616391
3 PRDM5 PRDM5, IVS1DS, G-A, +1 single nucleotide variant Pathogenic
4 PRDM5 NM_018699.3(PRDM5): c.320A> G (p.Tyr107Cys) single nucleotide variant Pathogenic rs387907111 GRCh37 Chromosome 4, 121742481: 121742481
5 PRDM5 PRDM5, 1-BP DEL, 947G deletion Pathogenic
6 PRDM5 PRDM5, IVS1DS, T-C, +2 single nucleotide variant Pathogenic

Expression for Brittle Cornea Syndrome 2

Search GEO for disease gene expression data for Brittle Cornea Syndrome 2.

Pathways for Brittle Cornea Syndrome 2

GO Terms for Brittle Cornea Syndrome 2

Cellular components related to Brittle Cornea Syndrome 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.16 COL15A1 COL5A1
2 endoplasmic reticulum lumen GO:0005788 9.13 COL13A1 COL15A1 COL5A1
3 collagen trimer GO:0005581 8.8 COL13A1 COL15A1 COL5A1

Biological processes related to Brittle Cornea Syndrome 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 collagen catabolic process GO:0030574 8.8 COL13A1 COL15A1 COL5A1

Molecular functions related to Brittle Cornea Syndrome 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL15A1 COL5A1

Sources for Brittle Cornea Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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