BCS1
MCID: BRT028
MIFTS: 24

Brittle Cornea Syndrome 1 (BCS1) malady

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

Aliases & Classifications for Brittle Cornea Syndrome 1

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Aliases & Descriptions for Brittle Cornea Syndrome 1:

Name: Brittle Cornea Syndrome 1 52 24 70
Fragilitas Oculi with Joint Hyperextensibility 24 70
Dysgenesis Mesodermalis Corneae Et Sclerae 24 70
Bcs1 24 70
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 24
 
Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility 70
Ehlers-Danlos Syndrome Type Vib Formerly 70
Ehlers-Danlos Syndrome 6b 68
Eds6b Formerly 70

Characteristics:

HPO:

64
brittle cornea syndrome 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 229200
MedGen37 C0268344
MeSH39 D004535

Summaries for Brittle Cornea Syndrome 1

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OMIM:52 Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or... (229200) more...

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 joint laxity, unspecified visual loss and macrocephaly. An important gene associated with Brittle Cornea Syndrome 1 is ZNF469 (Zinc Finger Protein 469). Affiliated tissues include skin.

UniProtKB/Swiss-Prot:70 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).

Related Diseases for Brittle Cornea Syndrome 1

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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:

idRelated DiseaseScoreTop Affiliating Genes
1brittle cornea syndrome 211.5
2ehlers-danlos syndrome, musculocontractural type 111.1

Symptoms & Phenotypes for Brittle Cornea Syndrome 1

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Symptoms by clinical synopsis from OMIM:

229200

Clinical features from OMIM:

229200

Human phenotypes related to Brittle Cornea Syndrome 1:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 macrocephaly64 HP:0000256
2 epicanthus64 HP:0000286
3 hearing impairment64 HP:0000365
4 myopia64 HP:0000545
5 keratoconus64 HP:0000563
6 visual loss64 HP:0000572
7 blue sclerae64 HP:0000592
8 dentinogenesis imperfecta64 HP:0000703
9 atypical scarring of skin64 HP:0000987
10 molluscoid pseudotumors64 HP:0000993
11 keratoglobus64 HP:0001119
12 congenital hip dislocation64 HP:0001374
13 joint laxity64 HP:0001388
14 disproportionate tall stature64 HP:0001519
15 mitral valve prolapse64 HP:0001634
16 red hair64 HP:0002297
17 scoliosis64 HP:0002650
18 spondylolisthesis64 HP:0003302
19 palmoplantar cutis laxa64 HP:0007517
20 decreased corneal thickness64 HP:0100689

UMLS symptoms related to Brittle Cornea Syndrome 1:


joint laxity, unspecified visual loss

Drugs & Therapeutics for Brittle Cornea Syndrome 1

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Folic Acidapproved, nutraceutical, vet_approved439259-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
2
Riboflavinapproved, nutraceutical, vet_approved17483-88-5493570
Synonyms:
(-)-Riboflavin
1-Deoxy-1-(3,4-dihydro-7,8-dimethyl-2,4-dioxobenzo[g]pteridin-10(2H)-yl)-D-ribitol
1-Deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol
6,7-Dimethyl-9-D-ribitylisoalloxazine
6,7-Dimethyl-9-ribitylisoalloxazine
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)-Benzo[g]pteridine-2,4(3H,10H)-dione
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine
7,8-Dimethyl-10-ribitylisoalloxazine
Beflavin
Beflavine
Benzo[g]pteridine riboflavin deriv.
E 101
E101
Flavaxin
Flavin BB
Flaxain
Food Yellow 15
 
Hyre
Lactobene
Lactoflavin
Lactoflavine
Ribipca
Ribocrisina
Riboderm
Riboflavina
Riboflavine
Riboflavinum
Ribosyn
Ribotone
Ribovel
Russupteridine yellow III
San Yellow B
Vitaflavine
Vitamin B2
Vitamin G
Vitasan B2
3Vitamin B Complex4337
4Vitamins5282
5Dermatologic Agents5806
6Trace Elements6001
7Micronutrients6001
8Photosensitizing Agents492
9Liver Extracts4067
10Vitamin B2Nutraceutical174
11FolateNutraceutical4392
12Vitamin B9Nutraceutical4392

Interventional clinical trials:

idNameStatusNCT IDPhase
1Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VIUnknown statusNCT01307527
2The Association With Peptic Ulcer Disease and Hepatic Vein Pressure GradientCompletedNCT01944878

Search NIH Clinical Center for Brittle Cornea Syndrome 1

Genetic Tests for Brittle Cornea Syndrome 1

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Genetic tests related to Brittle Cornea Syndrome 1:

id Genetic test Affiliating Genes
1 Brittle Cornea Syndrome 124 ZNF469

Anatomical Context for Brittle Cornea Syndrome 1

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MalaCards organs/tissues related to Brittle Cornea Syndrome 1:

36
Skin

Publications for Brittle Cornea Syndrome 1

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Variations for Brittle Cornea Syndrome 1

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Clinvar genetic disease variations for Brittle Cornea Syndrome 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ZNF469NM_ 001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter)SNVPathogenicrs764139968GRCh37Chr 16, 88503146: 88503146
2ZNF469NM_ 001127464.2(ZNF469): c.6360delG (p.Gln2121Serfs)deletionPathogenic/ Likely pathogenicrs886044697GRCh37Chr 16, 88500322: 88500322
3ZNF469NM_ 001127464.2(ZNF469): c.10016G> A (p.Cys3339Tyr)SNVPathogenicrs387907062GRCh37Chr 16, 88503978: 88503978
4ZNF469NM_ 001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter)SNVPathogenicrs387907063GRCh37Chr 16, 88498136: 88498136
5ZNF469ZNF469, 1-BP DEL, 5943AdeletionPathogenic
6ZNF469ZNF469, 1-BP DEL, 9527GdeletionPathogenic

Expression for genes affiliated with Brittle Cornea Syndrome 1

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

Pathways for genes affiliated with Brittle Cornea Syndrome 1

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GO Terms for genes affiliated with Brittle Cornea Syndrome 1

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Sources for Brittle Cornea Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet