MCID: BRT028
MIFTS: 25

Brittle Cornea Syndrome 1 malady

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

Aliases & Classifications for Brittle Cornea Syndrome 1

About this section

Aliases & Descriptions for Brittle Cornea Syndrome 1:

Name: Brittle Cornea Syndrome 1 51 24 69
Fragilitas Oculi with Joint Hyperextensibility 24 69
Dysgenesis Mesodermalis Corneae Et Sclerae 24 69
Bcs1 24 69
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 24
 
Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility 69
Ehlers-Danlos Syndrome Type Vib Formerly 69
Ehlers-Danlos Syndrome 6b 67
Eds6b Formerly 69

Characteristics:

HPO:

63
brittle cornea syndrome 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 229200
MedGen36 C0268344
MeSH38 D004535

Summaries for Brittle Cornea Syndrome 1

About this section
OMIM:51 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 macrocephaly, epicanthus and hearing impairment. An important gene associated with Brittle Cornea Syndrome 1 is ZNF469 (Zinc Finger Protein 469). Affiliated tissues include skin and liver.

UniProtKB/Swiss-Prot:69 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

About this section

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 for Brittle Cornea Syndrome 1

About this section

Symptoms by clinical synopsis from OMIM:

229200

Clinical features from OMIM:

229200

Human phenotypes related to Brittle Cornea Syndrome 1:

 63 (show all 20)
id Description HPO Frequency HPO Source Accession
1 macrocephaly63 HP:0000256
2 epicanthus63 HP:0000286
3 hearing impairment63 HP:0000365
4 myopia63 HP:0000545
5 keratoconus63 HP:0000563
6 visual loss63 HP:0000572
7 blue sclerae63 HP:0000592
8 dentinogenesis imperfecta63 HP:0000703
9 atypical scarring of skin63 HP:0000987
10 molluscoid pseudotumors63 HP:0000993
11 keratoglobus63 HP:0001119
12 congenital hip dislocation63 HP:0001374
13 joint laxity63 HP:0001388
14 disproportionate tall stature63 HP:0001519
15 mitral valve prolapse63 HP:0001634
16 red hair63 HP:0002297
17 scoliosis63 HP:0002650
18 spondylolisthesis63 HP:0003302
19 palmoplantar cutis laxa63 HP:0007517
20 decreased corneal thickness63 HP:0100689

UMLS symptoms related to Brittle Cornea Syndrome 1:


joint laxity, scleral discoloration, unspecified visual loss

Drugs & Therapeutics for Brittle Cornea Syndrome 1

About this section

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_approved427959-30-36037
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_approved16583-88-5493570
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 Complex4229
4Vitamins5095
5Dermatologic Agents5674
6Trace Elements5802
7Micronutrients5802
8Photosensitizing Agents476
9Liver Extracts3868
10Vitamin B2Nutraceutical165
11FolateNutraceutical4279
12Vitamin B9Nutraceutical4279

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

About this section

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

About this section

MalaCards organs/tissues related to Brittle Cornea Syndrome 1:

35
Skin, Liver

Animal Models for Brittle Cornea Syndrome 1 or affiliated genes

About this section

Publications for Brittle Cornea Syndrome 1

About this section

Variations for Brittle Cornea Syndrome 1

About this section

Clinvar genetic disease variations for Brittle Cornea Syndrome 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ZNF469NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu)SNVPathogenicrs273585618GRCh38Chr 16, 88430169: 88430169
2ZNF469NM_001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter)SNVPathogenicrs764139968GRCh37Chr 16, 88503146: 88503146
3ZNF469NM_001127464.2(ZNF469): c.6360delG (p.Gln2121Serfs)deletionPathogenicrs886044697GRCh37Chr 16, 88500322: 88500322
4ZNF469NM_001127464.2(ZNF469): c.10016G> A (p.Cys3339Tyr)SNVPathogenicrs387907062GRCh37Chr 16, 88503978: 88503978
5ZNF469NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter)SNVPathogenicrs387907063GRCh37Chr 16, 88498136: 88498136
6ZNF469ZNF469, 1-BP DEL, 5943AdeletionPathogenicChr na, -1: -1
7ZNF469ZNF469, 1-BP DEL, 9527GdeletionPathogenicChr na, -1: -1

Expression for genes affiliated with Brittle Cornea Syndrome 1

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

Pathways for genes affiliated with Brittle Cornea Syndrome 1

About this section

GO Terms for genes affiliated with Brittle Cornea Syndrome 1

About this section

Sources for Brittle Cornea Syndrome 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet