MCID: BRT028
MIFTS: 27

Brittle Cornea Syndrome 1

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

Aliases & Classifications for Brittle Cornea Syndrome 1

MalaCards integrated aliases for Brittle Cornea Syndrome 1:

Name: Brittle Cornea Syndrome 1 54 24 71
Fragilitas Oculi with Joint Hyperextensibility 24 71
Dysgenesis Mesodermalis Corneae Et Sclerae 24 71
Bcs1 24 71
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 24
Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility 71
Ehlers-Danlos Syndrome Type Vib Formerly 71
Ehlers-Danlos Syndrome 6b 69
Eds6b Formerly 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
brittle cornea syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Brittle Cornea Syndrome 1

UniProtKB/Swiss-Prot : 71 Brittle cornea syndrome 1: A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6).

MalaCards based summary : Brittle Cornea Syndrome 1, also known as fragilitas oculi with joint hyperextensibility, is related to brittle cornea syndrome 2 and ehlers-danlos syndrome, musculocontractural type 1, and has symptoms including scoliosis, myopia and joint laxity. An important gene associated with Brittle Cornea Syndrome 1 is ZNF469 (Zinc Finger Protein 469). The drugs Folic Acid and Riboflavin have been mentioned in the context of this disorder. Affiliated tissues include skin and liver.

OMIM : 54
Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). (229200)

Related Diseases for Brittle Cornea Syndrome 1

Diseases in the Brittle Cornea Syndrome 2 family:

Brittle Cornea Syndrome 1

Diseases related to Brittle Cornea Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 brittle cornea syndrome 2 11.5
2 ehlers-danlos syndrome, musculocontractural type 1 11.1

Symptoms & Phenotypes for Brittle Cornea Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
spondylolisthesis

Head And Neck- Ears:
hearing loss

Head And Neck- Head:
macrocephaly

Cardiovascular- Heart:
mitral valve prolapse

Growth- Other:
marfanoid habitus

Skin Nails & Hair- Hair:
red hair

Head And Neck- Eyes:
myopia
epicanthal folds
keratoconus
vision loss
blue sclerae
more
Skeletal:
joint laxity

Skeletal- Pelvis:
congenital hip dislocation

Head And Neck- Teeth:
dentinogenesis imperfecta

Skin Nails & Hair- Skin:
scarring
molluscoid pseudotumor
excessive wrinkled skin (palms and soles)

Laboratory- Abnormalities:
normal lysl hydroxylase activity
normal dermal hydroxylysine content


Clinical features from OMIM:

229200

Human phenotypes related to Brittle Cornea Syndrome 1:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 myopia 32 HP:0000545
3 joint laxity 32 HP:0001388
4 macrocephaly 32 HP:0000256
5 keratoconus 32 HP:0000563
6 spondylolisthesis 32 HP:0003302
7 congenital hip dislocation 32 HP:0001374
8 mitral valve prolapse 32 HP:0001634
9 epicanthus 32 HP:0000286
10 molluscoid pseudotumors 32 HP:0000993
11 blue sclerae 32 HP:0000592
12 visual loss 32 HP:0000572
13 dentinogenesis imperfecta 32 HP:0000703
14 keratoglobus 32 HP:0001119
15 red hair 32 HP:0002297
16 hearing impairment 32 HP:0000365
17 atypical scarring of skin 32 HP:0000987
18 disproportionate tall stature 32 HP:0001519
19 palmoplantar cutis laxa 32 HP:0007517
20 decreased corneal thickness 32 HP:0100689

UMLS symptoms related to Brittle Cornea Syndrome 1:


joint laxity, unspecified visual loss

Drugs & Therapeutics for Brittle Cornea Syndrome 1

Drugs for Brittle Cornea Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
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 Folate Nutraceutical
11 Vitamin B2 Nutraceutical
12 Vitamin B9 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Riboflavin
2 The Association With Peptic Ulcer Disease and Hepatic Vein Pressure Gradient Completed NCT01944878

Search NIH Clinical Center for Brittle Cornea Syndrome 1

Genetic Tests for Brittle Cornea Syndrome 1

Genetic tests related to Brittle Cornea Syndrome 1:

id Genetic test Affiliating Genes
1 Brittle Cornea Syndrome 1 24 ZNF469

Anatomical Context for Brittle Cornea Syndrome 1

MalaCards organs/tissues related to Brittle Cornea Syndrome 1:

39
Skin, Liver

Publications for Brittle Cornea Syndrome 1

Variations for Brittle Cornea Syndrome 1

ClinVar genetic disease variations for Brittle Cornea Syndrome 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ZNF469 ZNF469, 1-BP DEL, 5943A deletion Pathogenic
2 ZNF469 ZNF469, 1-BP DEL, 9527G deletion Pathogenic
3 ZNF469 NM_001127464.2(ZNF469): c.10016G> A (p.Cys3339Tyr) single nucleotide variant Pathogenic rs387907062 GRCh37 Chromosome 16, 88503978: 88503978
4 ZNF469 NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter) single nucleotide variant Pathogenic rs387907063 GRCh37 Chromosome 16, 88498136: 88498136
5 ZNF469 NM_001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter) single nucleotide variant Pathogenic rs764139968 GRCh37 Chromosome 16, 88503146: 88503146
6 ZNF469 NM_001127464.2(ZNF469): c.6360delG (p.Gln2121Serfs) deletion Pathogenic/Likely pathogenic rs886044697 GRCh37 Chromosome 16, 88500322: 88500322

Expression for Brittle Cornea Syndrome 1

Search GEO for disease gene expression data for Brittle Cornea Syndrome 1.

Pathways for Brittle Cornea Syndrome 1

GO Terms for Brittle Cornea Syndrome 1

Sources for Brittle Cornea Syndrome 1

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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