MCID: BRT047
MIFTS: 41

Brittle Cornea Syndrome malady

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

Aliases & Classifications for Brittle Cornea Syndrome

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Aliases & Descriptions for Brittle Cornea Syndrome:

Name: Brittle Cornea Syndrome 11 46 52 12
Kyphoscoliosis Type 11 25
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 46
Fragilitas Oculi with Joint Hyperextensibility 46
Dysgenesis Mesodermalis Corneae Et Sclerae 46
Type Vib Ehlers-Danlos Syndrome 11
 
Ehlers-Danlos Syndrome Type 6b 46
Type Vi Ehlers-Danlos Syndrome 13
Ehlers-Danlos Syndrome Type 6 37
Brittle Cornea Syndrome 2 11
Eds Vib 46

Characteristics:

Orphanet epidemiological data:

52
brittle cornea syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:14775
MeSH37 C536198
SNOMED-CT60 25606004
Orphanet52 ORPHA90354
ICD10 via Orphanet29 Q79.6

Summaries for Brittle Cornea Syndrome

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NIH Rare Diseases:46 Brittle cornea syndrome (bcs) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white part of the eyes (blue sclerae); hypermobile joints; hyperelastic skin; hearing defects; and dental abnormalities. there are 2 types of bcs which are distinguished by the mutated gene that causes the condition. bcs type 1 is caused by mutations in the znf469 gene and bcs type 2 is caused by mutations in the prdm5 gene. bcs is inherited in an autosomal recessive manner. last updated: 2/17/2012

MalaCards based summary: Brittle Cornea Syndrome, also known as kyphoscoliosis type, is related to brittle cornea syndrome 2 and brittle cornea syndrome 1, and has symptoms including myopia, corneal dystrophy and decreased corneal thickness. An important gene associated with Brittle Cornea Syndrome is ZNF469 (Zinc Finger Protein 469), and among its related pathways are Protein digestion and absorption and Degradation of the extracellular matrix. Affiliated tissues include skin, eye and bone.

Related Diseases for Brittle Cornea Syndrome

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Graphical network of diseases related to Brittle Cornea Syndrome:



Diseases related to brittle cornea syndrome

Symptoms for Brittle Cornea Syndrome

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Symptoms:

 52 (show all 34)
  • abnormality of the teeth
  • cleft palate
  • conductive hearing impairment
  • sensorineural hearing impairment
  • glaucoma
  • retinal detachment
  • corneal scarring
  • visual loss
  • blue sclerae
  • osteoporosis
  • hyperextensible skin
  • soft skin
  • bruising susceptibility
  • keratoglobus
  • corneal dystrophy
  • arachnodactyly
  • gait disturbance
  • neonatal hypotonia
  • hip dysplasia
  • mitral valve prolapse
  • pulmonic stenosis
  • pes planus
  • hallux valgus
  • scoliosis
  • increased susceptibility to fractures
  • myalgia
  • joint hyperflexibility
  • abnormality of epiphysis morphology
  • abnormality of hair pigmentation
  • severe myopia
  • camptodactyly
  • decreased corneal thickness
  • hernia
  • corneal erosion

HPO human phenotypes related to Brittle Cornea Syndrome:

(show all 25)
id Description Frequency HPO Source Accession
1 myopia hallmark (90%) HP:0000545
2 corneal dystrophy hallmark (90%) HP:0001131
3 decreased corneal thickness hallmark (90%) HP:0100689
4 conductive hearing impairment typical (50%) HP:0000405
5 sensorineural hearing impairment typical (50%) HP:0000407
6 visual impairment typical (50%) HP:0000505
7 blue sclerae typical (50%) HP:0000592
8 bruising susceptibility typical (50%) HP:0000978
9 atypical scarring of skin typical (50%) HP:0000987
10 gait disturbance typical (50%) HP:0001288
11 joint hypermobility typical (50%) HP:0001382
12 myalgia typical (50%) HP:0003326
13 reduced bone mineral density typical (50%) HP:0004349
14 abnormality of the teeth occasional (7.5%) HP:0000164
15 cleft palate occasional (7.5%) HP:0000175
16 glaucoma occasional (7.5%) HP:0000501
17 retinal detachment occasional (7.5%) HP:0000541
18 abnormality of the mitral valve occasional (7.5%) HP:0001633
19 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
20 scoliosis occasional (7.5%) HP:0002650
21 recurrent fractures occasional (7.5%) HP:0002757
22 abnormality of the hip bone occasional (7.5%) HP:0003272
23 abnormality of epiphysis morphology occasional (7.5%) HP:0005930
24 hernia occasional (7.5%) HP:0100790
25 corneal erosion occasional (7.5%) HP:0200020

Drugs & Therapeutics for Brittle Cornea Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RiboflavinNutraceutical15883-88-5493570
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
2
Folic AcidNutraceutical414359-30-36037
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
3FolateNutraceutical4143

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


Cochrane evidence based reviews: ehlers-danlos syndrome type 6

Genetic Tests for Brittle Cornea Syndrome

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Genetic tests related to Brittle Cornea Syndrome:

id Genetic test Affiliating Genes
1 Kyphoscoliosis25

Anatomical Context for Brittle Cornea Syndrome

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MalaCards organs/tissues related to Brittle Cornea Syndrome:

34
Skin, Eye, Bone

Animal Models for Brittle Cornea Syndrome or affiliated genes

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Publications for Brittle Cornea Syndrome

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Articles related to Brittle Cornea Syndrome:

(show all 13)
idTitleAuthorsYear
1
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. (26560304)
2015
2
Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus. (25564447)
2015
3
Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. (25727605)
2015
4
A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome. (26395458)
2015
5
Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. (25266838)
2014
6
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. (23680354)
2013
7
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. (21664999)
2011
8
Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. (19661234)
2010
9
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. (20485516)
2010
10
Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). (20938016)
2010
11
Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. (18452888)
2008
12
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. (14679583)
2004
13
Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation. (2112090)
1990

Variations for Brittle Cornea Syndrome

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Expression for genes affiliated with Brittle Cornea Syndrome

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

Pathways for genes affiliated with Brittle Cornea Syndrome

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GO Terms for genes affiliated with Brittle Cornea Syndrome

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Cellular components related to Brittle Cornea Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.5COL15A1, COL5A1
2endoplasmic reticulum lumenGO:00057888.6COL13A1, COL15A1, COL5A1

Biological processes related to Brittle Cornea Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305748.6COL13A1, COL15A1, COL5A1

Molecular functions related to Brittle Cornea Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.4COL15A1, COL5A1

Sources for Brittle Cornea Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet