BCS1
MCID: BRT028
MIFTS: 25

Brittle Cornea Syndrome 1 (BCS1)

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

Aliases & Classifications for Brittle Cornea Syndrome 1

MalaCards integrated aliases for Brittle Cornea Syndrome 1:

Name: Brittle Cornea Syndrome 1 57 75
Fragilitas Oculi with Joint Hyperextensibility 57 75
Dysgenesis Mesodermalis Corneae Et Sclerae 57 75
Bcs1 57 75
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 57
Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility 75
Ehlers-Danlos Syndrome, Type Vib, Formerly; Eds6b, Formerly 57
Ehlers-Danlos Syndrome, Type Vib, Formerly 57
Ehlers-Danlos Syndrome Type Vib Formerly 75
Cornea, Brittle, Syndrome, Type 1 40
Ehlers-Danlos Syndrome 6b 73
Eds6b, Formerly 57
Eds6b Formerly 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
brittle cornea syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Brittle Cornea Syndrome 1

UniProtKB/Swiss-Prot : 75 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 unspecified visual loss 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, bone and eye, and related phenotypes are macrocephaly and scoliosis

OMIM : 57 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). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). (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 11.9
2 brittle cornea syndrome 2 11.1

Symptoms & Phenotypes for Brittle Cornea Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Head And Neck Teeth:
dentinogenesis imperfecta

Skeletal Pelvis:
congenital hip dislocation

Cardiovascular Heart:
mitral valve prolapse

Skin Nails Hair Hair:
red hair

Growth Other:
marfanoid habitus

Skeletal Spine:
scoliosis
spondylolisthesis

Head And Neck Eyes:
myopia
blue sclerae
keratoconus
keratoglobus
epicanthal folds
more
Skeletal:
joint laxity

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:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 scoliosis 32 HP:0002650
3 hearing impairment 32 HP:0000365
4 dentinogenesis imperfecta 32 HP:0000703
5 epicanthus 32 HP:0000286
6 myopia 32 HP:0000545
7 atypical scarring of skin 32 HP:0000987
8 congenital hip dislocation 32 HP:0001374
9 joint laxity 32 HP:0001388
10 visual loss 32 HP:0000572
11 disproportionate tall stature 32 HP:0001519
12 mitral valve prolapse 32 HP:0001634
13 spondylolisthesis 32 HP:0003302
14 blue sclerae 32 HP:0000592
15 keratoconus 32 HP:0000563
16 keratoglobus 32 HP:0001119
17 palmoplantar cutis laxa 32 HP:0007517
18 decreased corneal thickness 32 HP:0100689
19 red hair 32 HP:0002297
20 molluscoid pseudotumors 32 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 Not Applicable 59-30-3 6037
2
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 83-88-5 493570
3 Micronutrients Not Applicable
4 Folate Not Applicable
5 Vitamin B2 Not Applicable
6 Vitamins Not Applicable
7 Photosensitizing Agents Not Applicable
8 Vitamin B9 Not Applicable
9 Dermatologic Agents Not Applicable
10 Trace Elements Not Applicable
11 Vitamin B Complex Not Applicable
12 Liver Extracts

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 Not Applicable 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:

41
Skin, Bone, Eye

Publications for Brittle Cornea Syndrome 1

Variations for Brittle Cornea Syndrome 1

ClinVar genetic disease variations for Brittle Cornea Syndrome 1:

6 (show top 50) (show all 596)
# 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.10016G> A (p.Cys3339Tyr) single nucleotide variant Pathogenic rs387907062 GRCh38 Chromosome 16, 88437570: 88437570
5 ZNF469 NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter) single nucleotide variant Pathogenic rs387907063 GRCh37 Chromosome 16, 88498136: 88498136
6 ZNF469 NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter) single nucleotide variant Pathogenic rs387907063 GRCh38 Chromosome 16, 88431728: 88431728
7 ZNF469 NM_001127464.2(ZNF469): c.1020C> T (p.Gly340=) single nucleotide variant Conflicting interpretations of pathogenicity rs273585633 GRCh38 Chromosome 16, 88428490: 88428490
8 ZNF469 NM_001127464.2(ZNF469): c.1020C> T (p.Gly340=) single nucleotide variant Conflicting interpretations of pathogenicity rs273585633 GRCh37 Chromosome 16, 88494898: 88494898
9 ZNF469 NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs273585618 GRCh38 Chromosome 16, 88430169: 88430169
10 ZNF469 NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs273585618 GRCh37 Chromosome 16, 88496577: 88496577
11 ZNF469 NM_001127464.2(ZNF469): c.9471C> G (p.Ala3157=) single nucleotide variant Likely benign rs273585636 GRCh38 Chromosome 16, 88437025: 88437025
12 ZNF469 NM_001127464.2(ZNF469): c.9471C> G (p.Ala3157=) single nucleotide variant Likely benign rs273585636 GRCh37 Chromosome 16, 88503433: 88503433
13 ZNF469 NM_001127464.2(ZNF469): c.1143C> A (p.Pro381=) single nucleotide variant Benign/Likely benign rs74032864 GRCh37 Chromosome 16, 88495021: 88495021
14 ZNF469 NM_001127464.2(ZNF469): c.1143C> A (p.Pro381=) single nucleotide variant Benign/Likely benign rs74032864 GRCh38 Chromosome 16, 88428613: 88428613
15 ZNF469 NM_001127464.2(ZNF469): c.1827G> A (p.Ser609=) single nucleotide variant Conflicting interpretations of pathogenicity rs148616993 GRCh37 Chromosome 16, 88495705: 88495705
16 ZNF469 NM_001127464.2(ZNF469): c.1827G> A (p.Ser609=) single nucleotide variant Conflicting interpretations of pathogenicity rs148616993 GRCh38 Chromosome 16, 88429297: 88429297
17 ZNF469 NM_001127464.2(ZNF469): c.2717C> T (p.Pro906Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs77951481 GRCh37 Chromosome 16, 88496595: 88496595
18 ZNF469 NM_001127464.2(ZNF469): c.2717C> T (p.Pro906Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs77951481 GRCh38 Chromosome 16, 88430187: 88430187
19 ZNF469 NM_001127464.2(ZNF469): c.3153T> C (p.Ile1051=) single nucleotide variant Benign rs9924504 GRCh37 Chromosome 16, 88497031: 88497031
20 ZNF469 NM_001127464.2(ZNF469): c.3153T> C (p.Ile1051=) single nucleotide variant Benign rs9924504 GRCh38 Chromosome 16, 88430623: 88430623
21 ZNF469 NM_001127464.2(ZNF469): c.457C> G (p.Pro153Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs532620482 GRCh37 Chromosome 16, 88494335: 88494335
22 ZNF469 NM_001127464.2(ZNF469): c.457C> G (p.Pro153Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs532620482 GRCh38 Chromosome 16, 88427927: 88427927
23 ZNF469 NM_001127464.2(ZNF469): c.1069T> C (p.Ser357Pro) single nucleotide variant Benign rs11648572 GRCh37 Chromosome 16, 88494947: 88494947
24 ZNF469 NM_001127464.2(ZNF469): c.1069T> C (p.Ser357Pro) single nucleotide variant Benign rs11648572 GRCh38 Chromosome 16, 88428539: 88428539
25 ZNF469 NM_001127464.2(ZNF469): c.1098A> C (p.Arg366Ser) single nucleotide variant Benign rs11640794 GRCh37 Chromosome 16, 88494976: 88494976
26 ZNF469 NM_001127464.2(ZNF469): c.1098A> C (p.Arg366Ser) single nucleotide variant Benign rs11640794 GRCh38 Chromosome 16, 88428568: 88428568
27 ZNF469 NM_001127464.2(ZNF469): c.10891G> A (p.Gly3631Arg) single nucleotide variant Benign/Likely benign rs3812951 GRCh37 Chromosome 16, 88504853: 88504853
28 ZNF469 NM_001127464.2(ZNF469): c.10891G> A (p.Gly3631Arg) single nucleotide variant Benign/Likely benign rs3812951 GRCh38 Chromosome 16, 88438445: 88438445
29 ZNF469 NM_001127464.2(ZNF469): c.10906G= (p.Ala3636=) single nucleotide variant Benign rs904783 GRCh37 Chromosome 16, 88504868: 88504868
30 ZNF469 NM_001127464.2(ZNF469): c.10906G= (p.Ala3636=) single nucleotide variant Benign rs904783 GRCh38 Chromosome 16, 88438460: 88438460
31 ZNF469 NM_001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter) single nucleotide variant Pathogenic rs764139968 GRCh37 Chromosome 16, 88503146: 88503146
32 ZNF469 NM_001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter) single nucleotide variant Pathogenic rs764139968 GRCh38 Chromosome 16, 88436738: 88436738
33 ZNF469 NM_001127464.2(ZNF469): c.10242G> C (p.Arg3414Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56236932 GRCh37 Chromosome 16, 88504204: 88504204
34 ZNF469 NM_001127464.2(ZNF469): c.10242G> C (p.Arg3414Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56236932 GRCh38 Chromosome 16, 88437796: 88437796
35 ZNF469 NM_001127464.2(ZNF469): c.8543A> G (p.His2848Arg) single nucleotide variant Benign rs1983014 GRCh37 Chromosome 16, 88502505: 88502505
36 ZNF469 NM_001127464.2(ZNF469): c.8543A> G (p.His2848Arg) single nucleotide variant Benign rs1983014 GRCh38 Chromosome 16, 88436097: 88436097
37 ZNF469 NM_001127464.2(ZNF469): c.4337C> T (p.Ala1446Val) single nucleotide variant Benign/Likely benign rs199897247 GRCh37 Chromosome 16, 88498299: 88498299
38 ZNF469 NM_001127464.2(ZNF469): c.4337C> T (p.Ala1446Val) single nucleotide variant Benign/Likely benign rs199897247 GRCh38 Chromosome 16, 88431891: 88431891
39 ZNF469 NM_001127464.2(ZNF469): c.3566C> T (p.Pro1189Leu) single nucleotide variant Benign/Likely benign rs115183769 GRCh37 Chromosome 16, 88497528: 88497528
40 ZNF469 NM_001127464.2(ZNF469): c.3566C> T (p.Pro1189Leu) single nucleotide variant Benign/Likely benign rs115183769 GRCh38 Chromosome 16, 88431120: 88431120
41 ZNF469 NM_001127464.2(ZNF469): c.7554delC (p.Ser2519Alafs) deletion Pathogenic/Likely pathogenic rs886039575 GRCh37 Chromosome 16, 88501516: 88501516
42 ZNF469 NM_001127464.2(ZNF469): c.7554delC (p.Ser2519Alafs) deletion Pathogenic/Likely pathogenic rs886039575 GRCh38 Chromosome 16, 88435108: 88435108
43 ZNF469 NM_001127464.2(ZNF469): c.4259C> T (p.Pro1420Leu) single nucleotide variant Benign rs4782300 GRCh37 Chromosome 16, 88498221: 88498221
44 ZNF469 NM_001127464.2(ZNF469): c.4259C> T (p.Pro1420Leu) single nucleotide variant Benign rs4782300 GRCh38 Chromosome 16, 88431813: 88431813
45 ZNF469 NM_001127464.2(ZNF469): c.7183C> A (p.Pro2395Thr) single nucleotide variant Uncertain significance rs199727372 GRCh37 Chromosome 16, 88501145: 88501145
46 ZNF469 NM_001127464.2(ZNF469): c.7183C> A (p.Pro2395Thr) single nucleotide variant Uncertain significance rs199727372 GRCh38 Chromosome 16, 88434737: 88434737
47 ZNF469 NM_001127464.2(ZNF469): c.4388C> T (p.Thr1463Met) single nucleotide variant Conflicting interpretations of pathogenicity rs375045076 GRCh37 Chromosome 16, 88498350: 88498350
48 ZNF469 NM_001127464.2(ZNF469): c.4388C> T (p.Thr1463Met) single nucleotide variant Conflicting interpretations of pathogenicity rs375045076 GRCh38 Chromosome 16, 88431942: 88431942
49 ZNF469 NM_001127464.2(ZNF469): c.1285G> A (p.Ala429Thr) single nucleotide variant Benign/Likely benign rs113937803 GRCh37 Chromosome 16, 88495163: 88495163
50 ZNF469 NM_001127464.2(ZNF469): c.1285G> A (p.Ala429Thr) single nucleotide variant Benign/Likely benign rs113937803 GRCh38 Chromosome 16, 88428755: 88428755

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

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