MCID: BRT029
MIFTS: 42

Brittle Cornea Syndrome 2 malady

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

Aliases & Classifications for Brittle Cornea Syndrome 2

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Aliases & Descriptions for Brittle Cornea Syndrome 2:

Name: Brittle Cornea Syndrome 2 52 11 24 70 27 12 68
Brittle Cornea Syndrome 11 48 54 12
Ehlers-Danlos Syndrome Type 6 39 68
Kyphoscoliosis Type 11 27
Bcs2 24 70
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 48
 
Fragilitas Oculi with Joint Hyperextensibility 48
Dysgenesis Mesodermalis Corneae Et Sclerae 48
Type Vib Ehlers-Danlos Syndrome 11
Type Vi Ehlers-Danlos Syndrome 13
Ehlers-Danlos Syndrome 6b 68

Characteristics:

Orphanet epidemiological data:

54
brittle cornea syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
brittle cornea syndrome 2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614170
Disease Ontology11 DOID:14775
SNOMED-CT62 25606004
Orphanet54 ORPHA90354
ICD10 via Orphanet31 Q79.6
MedGen37 C3280011

Summaries for Brittle Cornea Syndrome 2

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NIH Rare Diseases:48 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 2, also known as brittle cornea syndrome, is related to brittle cornea syndrome 1 and ehlers-danlos syndrome, kyphoscoliosis type, and has symptoms including myopia, corneal dystrophy and decreased corneal thickness. An important gene associated with Brittle Cornea Syndrome 2 is PRDM5 (PR/SET Domain 5), and among its related pathways are Protein digestion and absorption and Degradation of the extracellular matrix. Affiliated tissues include skin, bone and breast.

UniProtKB/Swiss-Prot:70 Brittle cornea syndrome 2: A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints.

Description from OMIM:52 614170

Related Diseases for Brittle Cornea Syndrome 2

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Graphical network of diseases related to Brittle Cornea Syndrome 2:



Diseases related to brittle cornea syndrome 2

Symptoms & Phenotypes for Brittle Cornea Syndrome 2

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Symptoms by clinical synopsis from OMIM:

614170

Clinical features from OMIM:

614170

Human phenotypes related to Brittle Cornea Syndrome 2:

 64 54 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopia64 hallmark (90%) HP:0000545
2 corneal dystrophy64 54 hallmark (90%) Very frequent (99-80%) HP:0001131
3 decreased corneal thickness64 54 hallmark (90%) Very frequent (99-80%) HP:0100689
4 conductive hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000405
5 sensorineural hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000407
6 visual impairment64 typical (50%) HP:0000505
7 blue sclerae64 54 typical (50%) Frequent (79-30%) HP:0000592
8 bruising susceptibility64 54 typical (50%) Frequent (79-30%) HP:0000978
9 atypical scarring of skin64 typical (50%) HP:0000987
10 gait disturbance64 54 typical (50%) Frequent (79-30%) HP:0001288
11 joint hypermobility64 typical (50%) HP:0001382
12 myalgia64 54 typical (50%) Frequent (79-30%) HP:0003326
13 reduced bone mineral density64 typical (50%) HP:0004349
14 abnormality of the teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0000164
15 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
16 glaucoma64 54 occasional (7.5%) Occasional (29-5%) HP:0000501
17 retinal detachment64 54 occasional (7.5%) Occasional (29-5%) HP:0000541
18 abnormality of the mitral valve64 occasional (7.5%) HP:0001633
19 abnormality of the pulmonary valve64 occasional (7.5%) HP:0001641
20 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
21 recurrent fractures64 occasional (7.5%) HP:0002757
22 abnormality of the hip bone64 occasional (7.5%) HP:0003272
23 abnormality of epiphysis morphology64 54 occasional (7.5%) Occasional (29-5%) HP:0005930
24 hernia64 54 occasional (7.5%) Occasional (29-5%) HP:0100790
25 corneal erosion64 54 occasional (7.5%) Occasional (29-5%) HP:0200020
26 inguinal hernia64 rare (5%) HP:0000023
27 megalocornea64 rare (5%) HP:0000485
28 sclerocornea64 rare (5%) HP:0000647
29 umbilical hernia64 rare (5%) HP:0001537
30 flat cornea64 rare (5%) HP:0007720
31 hearing impairment64 HP:0000365
32 keratoconus64 HP:0000563
33 keratoglobus64 54 Very frequent (99-80%) HP:0001119
34 corneal scarring54 Frequent (79-30%)
35 visual loss54 Frequent (79-30%)
36 osteoporosis54 Frequent (79-30%)
37 hyperextensible skin54 Very frequent (99-80%)
38 soft skin54 Very frequent (99-80%)
39 arachnodactyly54 Occasional (29-5%)
40 neonatal hypotonia54 Occasional (29-5%)
41 hip dysplasia54 Occasional (29-5%)
42 mitral valve prolapse54 Occasional (29-5%)
43 pulmonic stenosis54 Occasional (29-5%)
44 pes planus54 Occasional (29-5%)
45 hallux valgus54 Occasional (29-5%)
46 increased susceptibility to fractures54 Occasional (29-5%)
47 joint hyperflexibility54 Frequent (79-30%)
48 abnormality of hair pigmentation54 Frequent (79-30%)
49 severe myopia54 Very frequent (99-80%)
50 camptodactyly54 Occasional (29-5%)

UMLS symptoms related to Brittle Cornea Syndrome 2:


joint laxity, scleral discoloration, unspecified visual loss

Drugs & Therapeutics for Brittle Cornea Syndrome 2

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Drugs for Brittle Cornea Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
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
2
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
3Trace Elements5802
4Dermatologic Agents5674
5Vitamins5095
6Vitamin B Complex4229
7Micronutrients5802
8Photosensitizing Agents476
9Liver Extracts3868
10Estrogens2470
11Hormone Antagonists12778
12Estrogen Antagonists1315
13Steroid Synthesis Inhibitors1718
14Hormones13979
15Hormones, Hormone Substitutes, and Hormone Antagonists12767
16Aromatase Inhibitors807
17Vitamin B9Nutraceutical4279
18FolateNutraceutical4279
19Vitamin B2Nutraceutical165

Interventional clinical trials:

idNameStatusNCT IDPhase
1Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VIUnknown statusNCT01307527
2How Breast Conservative Surgery (BCS) Affects Women's Daily Activities On Post-Operation 2 Days?Unknown statusNCT00265213
3The Association With Peptic Ulcer Disease and Hepatic Vein Pressure GradientCompletedNCT01944878
4Current Practice Pattern and Effect of Training in Upper Endoscopic BiopsyCompletedNCT02044536
5Exercise to Prevent Aromatase Inhibitor Side Effects in Breast Cancer PatientsTerminatedNCT01954706

Search NIH Clinical Center for Brittle Cornea Syndrome 2


Cochrane evidence based reviews: ehlers-danlos syndrome type 6

Genetic Tests for Brittle Cornea Syndrome 2

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Genetic tests related to Brittle Cornea Syndrome 2:

id Genetic test Affiliating Genes
1 Brittle Cornea Syndrome 227 24 PRDM5
2 Kyphoscoliosis27

Anatomical Context for Brittle Cornea Syndrome 2

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MalaCards organs/tissues related to Brittle Cornea Syndrome 2:

36
Skin, Bone, Breast, Liver, Eye

Publications for Brittle Cornea Syndrome 2

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Variations for Brittle Cornea Syndrome 2

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UniProtKB/Swiss-Prot genetic disease variations for Brittle Cornea Syndrome 2:

70
id Symbol AA change Variation ID SNP ID
1PRDM5p.Tyr107CysVAR_066393rs387907111

Clinvar genetic disease variations for Brittle Cornea Syndrome 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PRDM5NM_018699.3(PRDM5): c.946_1623deldeletionPathogenicChr na, -1: -1
2PRDM5NM_018699.3(PRDM5): c.1768C> T (p.Arg590Ter)SNVPathogenicrs387907110GRCh37Chr 4, 121616391: 121616391
3PRDM5PRDM5, IVS1DS, G-A, +1SNVPathogenicChr na, -1: -1
4PRDM5NM_018699.3(PRDM5): c.320A> G (p.Tyr107Cys)SNVPathogenicrs387907111GRCh37Chr 4, 121742481: 121742481
5PRDM5PRDM5, 1-BP DEL, 947GdeletionPathogenicChr na, -1: -1
6PRDM5PRDM5, IVS1DS, T-C, +2SNVPathogenicChr na, -1: -1

Expression for genes affiliated with Brittle Cornea Syndrome 2

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Search GEO for disease gene expression data for Brittle Cornea Syndrome 2.

Pathways for genes affiliated with Brittle Cornea Syndrome 2

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GO Terms for genes affiliated with Brittle Cornea Syndrome 2

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Cellular components related to Brittle Cornea Syndrome 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.8COL15A1, COL5A1
2endoplasmic reticulum lumenGO:00057888.6COL13A1, COL15A1, COL5A1

Biological processes related to Brittle Cornea Syndrome 2 according to GeneCards Suite gene sharing:

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

Molecular functions related to Brittle Cornea Syndrome 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.2COL15A1, COL5A1

Sources for Brittle Cornea Syndrome 2

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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