MCID: BRT029
MIFTS: 23

Brittle Cornea Syndrome 2 malady

Categories: Genetic diseases, Skin diseases, Rare diseases, Eye diseases, Bone 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 50 23 68 25 12 66
 
Bcs2 23 68

Characteristics:

HPO:

62
brittle cornea syndrome 2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614170
MedGen35 C3280011
MeSH37 D004535

Summaries for Brittle Cornea Syndrome 2

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UniProtKB/Swiss-Prot:68 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.

MalaCards based summary: Brittle Cornea Syndrome 2, also known as bcs2, is related to brittle cornea syndrome and brittle cornea syndrome 1, and has symptoms including inguinal hernia, megalocornea and sclerocornea. An important gene associated with Brittle Cornea Syndrome 2 is PRDM5 (PR/SET Domain 5). Affiliated tissues include skin and breast.

Description from OMIM:50 614170

Related Diseases for Brittle Cornea Syndrome 2

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Diseases in the Brittle Cornea Syndrome family:

brittle cornea syndrome 2 Brittle Cornea Syndrome 1

Diseases related to Brittle Cornea Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brittle cornea syndrome11.2
2brittle cornea syndrome 110.0

Symptoms for Brittle Cornea Syndrome 2

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Symptoms by clinical synopsis from OMIM:

614170

Clinical features from OMIM:

614170

HPO human phenotypes related to Brittle Cornea Syndrome 2:

(show all 13)
id Description Frequency HPO Source Accession
1 inguinal hernia rare (5%) HP:0000023
2 megalocornea rare (5%) HP:0000485
3 sclerocornea rare (5%) HP:0000647
4 gait disturbance rare (5%) HP:0001288
5 umbilical hernia rare (5%) HP:0001537
6 recurrent fractures rare (5%) HP:0002757
7 myalgia rare (5%) HP:0003326
8 flat cornea rare (5%) HP:0007720
9 hearing impairment HP:0000365
10 myopia HP:0000545
11 keratoconus HP:0000563
12 blue sclerae HP:0000592
13 keratoglobus HP:0001119

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):

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
1Current Practice Pattern and Effect of Training in Upper Endoscopic BiopsyCompletedNCT02044536
2How Breast Conservative Surgery (BCS) Affects Women's Daily Activities On Post-Operation 2 Days?RecruitingNCT00265213
3Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VIEnrolling by invitationNCT01307527
4Exercise to Prevent Aromatase Inhibitor Side Effects in Breast Cancer PatientsTerminatedNCT01954706

Search NIH Clinical Center for Brittle Cornea Syndrome 2

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 225 23 PRDM5

Anatomical Context for Brittle Cornea Syndrome 2

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MalaCards organs/tissues related to Brittle Cornea Syndrome 2:

34
Skin, Breast

Animal Models for Brittle Cornea Syndrome 2 or affiliated genes

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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:

68
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_1623deldeletionPathogenic
2PRDM5NM_018699.3(PRDM5): c.1768C> T (p.Arg590Ter)single nucleotide variantPathogenicrs387907110GRCh37Chr 4, 121616391: 121616391
3PRDM5PRDM5, IVS1DS, G-A, +1single nucleotide variantPathogenic
4PRDM5NM_018699.3(PRDM5): c.320A> G (p.Tyr107Cys)single nucleotide variantPathogenicrs387907111GRCh37Chr 4, 121742481: 121742481
5PRDM5PRDM5, 1-BP DEL, 947GdeletionPathogenic
6PRDM5PRDM5, IVS1DS, T-C, +2single nucleotide variantPathogenic

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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Sources for Brittle Cornea Syndrome 2

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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