MCID: BRT028
MIFTS: 31

Brittle Cornea Syndrome 1

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

Aliases & Classifications for Brittle Cornea Syndrome 1

MalaCards integrated aliases for Brittle Cornea Syndrome 1:

Name: Brittle Cornea Syndrome 1 53 71
Fragilitas Oculi with Joint Hyperextensibility 53 71
Dysgenesis Mesodermalis Corneae Et Sclerae 53 71
Bcs1 53 71
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 53
Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility 71
Ehlers-Danlos Syndrome, Type Vib, Formerly; Eds6b, Formerly 53
Ehlers-Danlos Syndrome, Type Vib, Formerly 53
Ehlers-Danlos Syndrome Type Vib Formerly 71
Ehlers-Danlos Syndrome 6b 69
Eds6b, Formerly 53
Eds6b Formerly 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
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 ehlers-danlos syndrome, musculocontractural type, 1 and brittle cornea syndrome 2, and has symptoms including joint laxity, macrocephaly and scoliosis. 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 : 53 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:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, musculocontractural type, 1 11.7
2 brittle cornea syndrome 2 11.5

Symptoms & Phenotypes for Brittle Cornea Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
joint laxity

Skeletal Spine:
scoliosis
spondylolisthesis

Head And Neck Eyes:
myopia
blue sclerae
keratoconus
keratoglobus
epicanthal folds
more
Skeletal Pelvis:
congenital hip dislocation

Skin Nails Hair Hair:
red hair

Growth Other:
marfanoid habitus

Head And Neck Head:
macrocephaly

Head And Neck Teeth:
dentinogenesis imperfecta

Cardiovascular Heart:
mitral valve prolapse

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

Head And Neck Ears:
hearing loss

Laboratory Abnormalities:
normal lysl hydroxylase activity
normal dermal hydroxylysine content


Clinical features from OMIM:

229200

Human phenotypes related to Brittle Cornea Syndrome 1:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 joint laxity 31 HP:0001388
2 macrocephaly 31 HP:0000256
3 scoliosis 31 HP:0002650
4 hearing impairment 31 HP:0000365
5 dentinogenesis imperfecta 31 HP:0000703
6 epicanthus 31 HP:0000286
7 myopia 31 HP:0000545
8 atypical scarring of skin 31 HP:0000987
9 visual loss 31 HP:0000572
10 disproportionate tall stature 31 HP:0001519
11 mitral valve prolapse 31 HP:0001634
12 spondylolisthesis 31 HP:0003302
13 blue sclerae 31 HP:0000592
14 keratoconus 31 HP:0000563
15 congenital hip dislocation 31 HP:0001374
16 keratoglobus 31 HP:0001119
17 palmoplantar cutis laxa 31 HP:0007517
18 decreased corneal thickness 31 HP:0100689
19 red hair 31 HP:0002297
20 molluscoid pseudotumors 31 HP:0000993

UMLS symptoms related to Brittle Cornea Syndrome 1:


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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
2
Riboflavin Approved, Investigational, 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:


# 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

Anatomical Context for Brittle Cornea Syndrome 1

MalaCards organs/tissues related to Brittle Cornea Syndrome 1:

38
Skin, Liver

Publications for Brittle Cornea Syndrome 1

Articles related to Brittle Cornea Syndrome 1:

# Title Authors Year
1
Mitochondrial protein import: recognition of internal import signals of BCS1 by the TOM complex. ( 12640110 )
2003
2
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. ( 9878253 )
1998
3
Internal targeting signal of the BCS1 protein: a novel mechanism of import into mitochondria. ( 8599931 )
1996

Variations for Brittle Cornea Syndrome 1

ClinVar genetic disease variations for Brittle Cornea Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF469 NM_001127464.2(ZNF469): c.10016G> A (p.Cys3339Tyr) single nucleotide variant Pathogenic rs387907062 GRCh37 Chromosome 16, 88503978: 88503978
2 ZNF469 NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter) single nucleotide variant Pathogenic rs387907063 GRCh37 Chromosome 16, 88498136: 88498136
3 ZNF469 NM_001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter) single nucleotide variant Pathogenic rs764139968 GRCh37 Chromosome 16, 88503146: 88503146
4 ZNF469 ZNF469, 1-BP DEL, 5943A deletion Pathogenic
5 ZNF469 ZNF469, 1-BP DEL, 9527G deletion Pathogenic
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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