MCID: BRT028
MIFTS: 20

Brittle Cornea Syndrome 1 malady

Categories: Genetic diseases (common), Skin diseases

Aliases & Classifications for Brittle Cornea Syndrome 1

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Aliases & Descriptions for Brittle Cornea Syndrome 1:

Name: Brittle Cornea Syndrome 1 49 22 67
Fragilitas Oculi with Joint Hyperextensibility 22 67
Dysgenesis Mesodermalis Corneae Et Sclerae 22 67
Bcs1 22 67
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 22
 
Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility 67
Ehlers-Danlos Syndrome Type Vib Formerly 67
Ehlers-Danlos Syndrome 6b 65
Eds6b Formerly 67

Characteristics:

HPO:

61
brittle cornea syndrome 1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 229200
MedGen34 C0268344
MeSH36 D004535
UMLS65 C0268344

Summaries for Brittle Cornea Syndrome 1

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OMIM:49 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 ehlers-danlos syndrome, type vi and ehlers-danlos syndrome, musculocontractural type 1, and has symptoms including decreased corneal thickness, palmoplantar cutis laxa and spondylolisthesis. An important gene associated with Brittle Cornea Syndrome 1 is ZNF469 (Zinc Finger Protein 469). Affiliated tissues include skin and liver.

UniProtKB/Swiss-Prot:67 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
1ehlers-danlos syndrome, type vi12.0
2ehlers-danlos syndrome, musculocontractural type 111.6
3keratopathy10.3
4bullous keratopathy10.3

Symptoms for Brittle Cornea Syndrome 1

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Symptoms by clinical synopsis from OMIM:

229200

Clinical features from OMIM:

229200

HPO human phenotypes related to Brittle Cornea Syndrome 1:

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

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, nutraceutical292459-30-36037
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
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, nutraceutical15083-88-5493570
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)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
Flavaxin
Flavin BB
Flaxain
Food Yellow 15
Hyre
Lactobene
 
Lactoflavin
Lactoflavine
Ribipca
Ribocrisina
Riboderm
Riboflavin
Riboflavin phosphate sodium dihydrate
Riboflavina
Riboflavine
Riboflavinum
Ribosyn
Ribotone
Ribovel
Russupteridine yellow III
San Yellow B
Vitaflavine
Vitamin B2
Vitamin G
Vitasan B2
e101
3Liver Extracts3572
4Trace Elements3900
5Vitamin B Complex2847
6Vitamins3857
7Photosensitizing Agents374
8Micronutrients3901
9Dermatologic Agents4555
10Vitamin B9Nutraceutical2924
11Vitamin B2Nutraceutical150
12FolateNutraceutical2924

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Association With Peptic Ulcer Disease and Hepatic Vein Pressure GradientCompletedNCT01944878
2Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VIEnrolling by invitationNCT01307527

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 122 ZNF469

Anatomical Context for Brittle Cornea Syndrome 1

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MalaCards organs/tissues related to Brittle Cornea Syndrome 1:

33
Skin, Liver

Animal Models for Brittle Cornea Syndrome 1 or affiliated genes

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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)single nucleotide variantPathogenicrs764139968GRCh37Chr 16, 88503146: 88503146
2ZNF469NM_001127464.2(ZNF469): c.10016G> A (p.Cys3339Tyr)single nucleotide variantPathogenicrs387907062GRCh37Chr 16, 88503978: 88503978
3ZNF469NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter)single nucleotide variantPathogenicrs387907063GRCh37Chr 16, 88498136: 88498136
4ZNF469ZNF469, 1-BP DEL, 5943AdeletionPathogenic
5ZNF469ZNF469, 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet