BCS2
MCID: BRT029
MIFTS: 54

Brittle Cornea Syndrome 2 (BCS2)

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

Aliases & Classifications for Brittle Cornea Syndrome 2

MalaCards integrated aliases for Brittle Cornea Syndrome 2:

Name: Brittle Cornea Syndrome 2 56 12 73 29 13 6 71
Brittle Cornea Syndrome 12 52 58 36 15
Ehlers-Danlos Syndrome Type 6 43 71
Kyphoscoliosis 29 6
Bcs2 56 73
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 52
Fragilitas Oculi with Joint Hyperextensibility 52
Dysgenesis Mesodermalis Corneae Et Sclerae 52
Cornea, Brittle, Syndrome Type 2 39
Type Vib Ehlers-Danlos Syndrome 12
Cornea, Brittle, Syndrome 39
Ehlers-Danlos Syndrome 6b 71
Kyphoscoliosis Type 12

Characteristics:

Orphanet epidemiological data:

58
brittle cornea syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea


HPO:

31
brittle cornea syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Brittle Cornea Syndrome 2

NIH Rare Diseases : 52 Brittle cornea syndrome (BCS ) is a genetic disease involving the connective tissue in the eyes, ears, joints, and skin. The symptoms of BCS typically involve thinning of the protective outer layer of the eye (cornea ), which may lead to tearing or rupture after minor damage to the cornea. Other eye symptoms may include nearsightedness (myopia ), a blueish tint in the white part of the eyes (blue sclera), and retinal detachment . Other symptoms may include hearing loss , abnormal positioning of the hip bones (hip dysplasia), and soft skin with abnormal scarring. There are 2 types of BCS. BCS type 1 is caused by changes (mutations ) in the ZNF469 gene and BCS type 2 is caused by changes in the PRDM5 gene. BCS is inherited in an autosomal recessive manner. The diagnosis of BCS is made based on symptoms and may be confirmed through genetic testing . Management of BCS may include monitoring for vision loss, hearing loss, and the development of muscle or skeletal problems. Measures to prevent corneal rupture, such as wearing special protective glasses, may help delay vision loss. Other treatments may include corrective lenses (glasses), hearing aids, correcting hip dysplasia, and repairing retinal detachment.

MalaCards based summary : Brittle Cornea Syndrome 2, also known as brittle cornea syndrome, is related to kyphoscoliotic ehlers-danlos syndrome and ehlers-danlos syndrome, and has symptoms including unspecified visual loss An important gene associated with Brittle Cornea Syndrome 2 is PRDM5 (PR/SET Domain 5). The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are corneal dystrophy and hyperextensible skin

OMIM : 56 Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). For a discussion of genetic heterogeneity of brittle cornea syndrome, see BCS1 (229200). (614170)

KEGG : 36 Brittle cornea syndrome (BCS) is a rare autosomal recessive generalized connective tissue disorder. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin, and hypermobility of the small joints are additional features of BCS. Mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a common pathway regulating extracellular matrix genes, particularly fibrillar collagens.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Brittle Cornea Syndrome 2

Diseases in the Brittle Cornea Syndrome 2 family:

Brittle Cornea Syndrome 1

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

(show top 50) (show all 336)
# Related Disease Score Top Affiliating Genes
1 kyphoscoliotic ehlers-danlos syndrome 33.5 PLOD1 FKBP14
2 ehlers-danlos syndrome 32.6 ZNF469 SLC39A13 PLOD1 FKBP14 COL5A1 CHST14
3 hypermobile ehlers-danlos syndrome 31.0 PLOD1 FKBP14
4 brittle bone disorder 30.4 ZNF469 VSX1 PLOD1 COL5A1
5 irregular astigmatism 30.4 ZNF469 VSX1 RAB3GAP1 FNDC3B COL8A2
6 scoliosis 30.4 ZNF469 PLOD1 FKBP14 COL5A1
7 orthostatic intolerance 30.3 VSX1 PLOD1 COL5A1
8 keratoconus 29.8 ZNF469 VSX1 RXRA RAB3GAP1 PRDM5 MPDZ
9 kyphoscoliosis 1 12.5
10 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome 12.4
11 cervical hypertrichosis with underlying kyphoscoliosis 12.4
12 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 12.4
13 facial abnormalities, kyphoscoliosis, and mental retardation 12.3
14 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome 12.2
15 ehlers-danlos syndrome, kyphoscoliotic type, 2 12.2
16 contractural arachnodactyly, congenital 12.0
17 brittle cornea syndrome 1 12.0
18 viljoen kallis voges syndrome 11.9
19 metatropic dysplasia 11.7
20 mcdonough syndrome 11.7
21 arthrogryposis and ectodermal dysplasia 11.6
22 syndromic x-linked intellectual disability snyder type 11.5
23 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 11.5
24 mental retardation, x-linked, syndromic, snyder-robinson type 11.5
25 roussy-levy hereditary areflexic dystasia 11.3
26 ullrich congenital muscular dystrophy 1 11.3
27 spondylocostal dysostosis 3, autosomal recessive 11.3
28 myopathy, congenital, bailey-bloch 11.3
29 coffin-lowry syndrome 11.3
30 spondyloepiphyseal dysplasia with congenital joint dislocations 11.2
31 marden-walker syndrome 11.2
32 macrocephaly, dysmorphic facies, and psychomotor retardation 11.2
33 obsolete: tricho-oculo-dermo-vertebral syndrome 11.2
34 brachyolmia type 3 11.1
35 parastremmatic dwarfism 11.1
36 crisponi/cold-induced sweating syndrome 1 11.1
37 ehlers-danlos syndrome, musculocontractural type, 1 11.1
38 anauxetic dysplasia 1 11.1
39 crisponi/cold-induced sweating syndrome 2 11.1
40 brachyolmia type 4 with mild epiphyseal and metaphyseal changes 11.1
41 jaberi-elahi syndrome 11.1
42 robinow syndrome 11.1
43 cold-induced sweating syndrome 11.1
44 cyprus facial neuromusculoskeletal syndrome 11.0
45 kniest dysplasia 11.0
46 spondyloepiphyseal dysplasia congenita 11.0
47 abetalipoproteinemia 11.0
48 carpenter syndrome 1 11.0
49 congenital disorder of glycosylation, type ia 11.0
50 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy 11.0

Graphical network of the top 20 diseases related to Brittle Cornea Syndrome 2:



Diseases related to Brittle Cornea Syndrome 2

Symptoms & Phenotypes for Brittle Cornea Syndrome 2

Human phenotypes related to Brittle Cornea Syndrome 2:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001131
2 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
3 keratoglobus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001119
4 high myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011003
5 soft skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000977
6 gait disturbance 58 31 occasional (7.5%) Frequent (79-30%) HP:0001288
7 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
8 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
9 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
10 myalgia 58 31 occasional (7.5%) Frequent (79-30%) HP:0003326
11 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
12 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
13 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
14 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
15 corneal scarring 58 31 frequent (33%) Frequent (79-30%) HP:0000559
16 abnormality of hair pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0009887
17 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
18 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
19 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
20 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
21 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
22 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
23 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001822
24 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
25 hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100790
26 corneal erosion 58 31 occasional (7.5%) Occasional (29-5%) HP:0200020
27 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
28 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
29 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
30 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
31 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
32 camptodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0012385
33 increased susceptibility to fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002659
34 inguinal hernia 31 occasional (7.5%) HP:0000023
35 umbilical hernia 31 occasional (7.5%) HP:0001537
36 megalocornea 31 occasional (7.5%) HP:0000485
37 flat cornea 31 occasional (7.5%) HP:0007720
38 recurrent fractures 31 occasional (7.5%) HP:0002757
39 sclerocornea 31 occasional (7.5%) HP:0000647
40 hearing impairment 31 HP:0000365
41 myopia 31 HP:0000545
42 joint hypermobility 31 HP:0001382
43 keratoconus 31 HP:0000563
44 decreased corneal thickness 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
myopia
blue sclerae
keratoconus
keratoglobus
sclerocornea (in some patients)
more
Abdomen External Features:
hernia, inguinal, umbilical, or epigastric (in some patients)

Skeletal Pelvis:
developmental dysplasia of the hip (in some patients)

Muscle Soft Tissue:
myalgia (in some patients)

Head And Neck Ears:
hearing loss, sensorineural and conductive
hypercompliant tympanic membranes

Skeletal:
small joint hypermobility
abnormal gait (in some patients)
increased fractures (in some patients)

Skin Nails Hair Skin:
soft with easy bruising (in some patients)
poor healing with abnormal scarring (in some patients)
hyperelasticity (in some patients)

Clinical features from OMIM:

614170

UMLS symptoms related to Brittle Cornea Syndrome 2:


unspecified visual loss

MGI Mouse Phenotypes related to Brittle Cornea Syndrome 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 COL5A1 COL8A2 ERCC6 LRRK1 MPDZ PRDM5

Drugs & Therapeutics for Brittle Cornea Syndrome 2

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved 51-43-4 5816
2
Racepinephrine Approved 329-65-7 838
3
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
4
Lidocaine Approved, Vet_approved 137-58-6 3676
5
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
6
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
7 Trace Elements
8 Vitamins
9 Micronutrients
10 Vitamin B Complex
11 Nutrients
12 Vitamin B9
13 Vitamin B2
14 Dermatologic Agents
15 Folate
16 Photosensitizing Agents
17 Neurotransmitter Agents
18 Anesthetics
19 Epinephryl borate
20 Adrenergic beta-Agonists
21 Adrenergic Agonists
22 Sympathomimetics
23 Respiratory System Agents
24 Anti-Asthmatic Agents
25 Central Nervous System Depressants
26 Anesthetics, Local
27 Autonomic Agents
28 Bronchodilator Agents
29 Adrenergic Agents
30 Mydriatics
31 Vasoconstrictor Agents

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Riboflavin
2 Evaluation of Pain Relief and Functional Improvement After the Surgical Treatment for Low Back Pain Due to Degenerative Kyphoscoliosis - Pilot Study Completed NCT01439906
3 De-Rotation Breathing Exercises for Idiopathic Kyphoscoliosis Among Adolescents. Completed NCT03779581
4 High Volume, Multilevel Local Anesthetic-Epinephrine Infiltration in Kyphoscoliosis Surgery: Blood Conservation and Analgesia Completed NCT03319563 Local anesthetic-epinephrine;Saline
5 Longitudinal Study of Bone and Endocrine Disease in Children With MPS I, II, and VI: A Multicenter Study of the Lysosomal Disease Network. Completed NCT01521429
6 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT01457456
7 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Recruiting NCT03872713
8 Impact of a Physical Rehabilitation Program on the Quality of Life of Patients With Acromegaly: a Non-randomized Clinical Trial. Recruiting NCT03710499
9 Posterior Vertebral Column Resection (PVCR) for Correction of Adolescent Thoracolumbar Congenital Kyphoscoliosis (CKS) Not yet recruiting NCT03524027
10 Cardiac Function After CPAP Therapy in Patients With Chronic Heart Failure and Sleep Apnea. A Multicenter Study Terminated NCT00404807
11 ADDRESS - Multicenter, Partially-randomized Controlled Trial of Adult Deformity Robotic vs. Freehand Surgery to Correct Adult Spine Deformity Withdrawn NCT02058238

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

Genetic tests related to Brittle Cornea Syndrome 2:

# Genetic test Affiliating Genes
1 Kyphoscoliosis 29
2 Brittle Cornea Syndrome 2 29 PRDM5

Anatomical Context for Brittle Cornea Syndrome 2

MalaCards organs/tissues related to Brittle Cornea Syndrome 2:

40
Skin, Bone, Eye, Testes, Heart

Publications for Brittle Cornea Syndrome 2

Articles related to Brittle Cornea Syndrome 2:

(show all 50)
# Title Authors PMID Year
1
A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome. 6 56 61
26395458 2015
2
A novel mutation in PRDM5 in brittle cornea syndrome. 61 6 56
22122778 2012
3
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. 56 6 61
21664999 2011
4
Corneal abnormalities in Ehlers-Danlos syndrome type VI. 56 6
8458232 1993
5
Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). 6 61
20938016 2010
6
Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. 61 6
19661234 2010
7
Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. 61 6
18452888 2008
8
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. 61 56
14679583 2004
9
Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). 61 6
7387950 1980
10
The 2017 international classification of the Ehlers-Danlos syndromes. 56
28306229 2017
11
Dysgenesis mesodermalis corneae et sclerae. Rupture of both corneae in a patient with blue sclerae. 6
5755738 1968
12
[Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene]. 61
30338343 2019
13
Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations. 61
31107761 2019
14
Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome. 61
30865045 2019
15
Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years. 61
31025659 2019
16
Brittle cornea syndrome: current perspectives [Response to Letter]. 61
31576105 2019
17
Brittle cornea syndrome: current perspectives. 61
31496642 2019
18
Brittle cornea syndrome: current perspectives [Letter]. 61
31564821 2019
19
Systematic review of differential methylation in rare ophthalmic diseases. 61
31799411 2019
20
Brittle cornea syndrome: a case report and review of the literature. 61
30227830 2018
21
Use of an onlay corneal lamellar graft for brittle cornea syndrome. 61
30115710 2018
22
Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye. 61
28453375 2017
23
Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent. 61
29228253 2017
24
Unusual case of globe perforation: the brittle cornea without systemic manifestations. 61
27758814 2016
25
Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome. 61
27032025 2016
26
Genetics in Keratoconus: where are we? 61
27350955 2016
27
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome. 61
26489929 2016
28
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. 61
26560304 2015
29
Corneal Cross-Linking for Brittle Cornea Syndrome. 61
26266434 2015
30
Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. 61
25727605 2015
31
Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature. 61
26221552 2015
32
Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus. 61
25564447 2015
33
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. 61
24895405 2014
34
Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. 61
25266838 2014
35
Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus. 61
25097247 2014
36
Ocular genetic disease in the Middle East. 61
23846189 2013
37
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. 61
23680354 2013
38
Brittle cornea syndrome: recognition, molecular diagnosis and management. 61
23642083 2013
39
Keratoconus in Costello syndrome. 61
23494969 2013
40
Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype. 61
23010198 2012
41
Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness. 61
22814818 2012
42
Peripartum anesthetic management of a patient with brittle cornea syndrome. 61
21258811 2011
43
Collagen-related genes influence the glaucoma risk factor, central corneal thickness. 61
21098505 2011
44
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. 61
20485516 2010
45
A novel technique to treat traumatic corneal perforation in a case of presumed brittle cornea syndrome. 61
17322473 2007
46
Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24. 61
17122114 2006
47
Bilateral spontaneous corneal rupture in brittle cornea syndrome: a case report. 61
10487441 1999
48
Syndrome of brittle cornea, blue sclera, and joint hyperextensibility. 61
2363420 1990
49
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. 61
2112090 1990
50
[Brittle cornea syndrome: a hereditary disease of connective tissue with spontaneous corneal perforation]. 61
3220381 1988

Variations for Brittle Cornea Syndrome 2

ClinVar genetic disease variations for Brittle Cornea Syndrome 2:

6 (show top 50) (show all 320) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF469 NG_012236.2:g.11027deldeletion Pathogenic 730 16:88499905-88499905 16:88433497-88433497
2 ZNF469 ZNF469, 1-BP DEL, 9527Gdeletion Pathogenic 731
3 ZNF469 NM_001367624.1(ZNF469):c.10100G>A (p.Cys3367Tyr)SNV Pathogenic 30942 rs387907062 16:88503978-88503978 16:88437570-88437570
4 ZNF469 NM_001367624.1(ZNF469):c.4258G>T (p.Glu1420Ter)SNV Pathogenic 30943 rs387907063 16:88498136-88498136 16:88431728-88431728
5 PRDM5 NM_018699.3(PRDM5):c.946_1623deldeletion Pathogenic 31110
6 PRDM5 NM_018699.3(PRDM5):c.1768C>T (p.Arg590Ter)SNV Pathogenic 31111 rs387907110 4:121616391-121616391 4:120695236-120695236
7 PRDM5 NM_018699.3(PRDM5):c.93+1G>ASNV Pathogenic 31112 4:121843670-121843670 4:120922515-120922515
8 PRDM5 NM_018699.3(PRDM5):c.320A>G (p.Tyr107Cys)SNV Pathogenic 31113 rs387907111 4:121742481-121742481 4:120821326-120821326
9 PRDM5 NM_018699.3(PRDM5):c.974del (p.Cys325fs)deletion Pathogenic 31114 4:121720872-121720872 4:120799717-120799717
10 PRDM5 NM_018699.3(PRDM5):c.93+2T>CSNV Pathogenic 31115 4:121843669-121843669 4:120922514-120922514
11 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523237 1:12019879-12028775
12 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523240 1:12019879-12028775
13 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523241 1:12019879-12028775
14 ZNF469 NM_001367624.1(ZNF469):c.1020C>T (p.Gly340=)SNV Conflicting interpretations of pathogenicity 126915 rs273585633 16:88494898-88494898 16:88428490-88428490
15 ZNF469 NM_001367624.1(ZNF469):c.2699C>T (p.Pro900Leu)SNV Conflicting interpretations of pathogenicity 126922 rs273585618 16:88496577-88496577 16:88430169-88430169
16 ZNF469 NM_001367624.1(ZNF469):c.1827G>A (p.Ser609=)SNV Conflicting interpretations of pathogenicity 193171 rs148616993 16:88495705-88495705 16:88429297-88429297
17 ZNF469 NM_001367624.1(ZNF469):c.2717C>T (p.Pro906Leu)SNV Conflicting interpretations of pathogenicity 193172 rs77951481 16:88496595-88496595 16:88430187-88430187
18 ZNF469 NM_001367624.1(ZNF469):c.457C>G (p.Pro153Ala)SNV Conflicting interpretations of pathogenicity 193174 rs532620482 16:88494335-88494335 16:88427927-88427927
19 ZNF469 NM_001367624.1(ZNF469):c.10326G>C (p.Arg3442Ser)SNV Conflicting interpretations of pathogenicity 195118 rs56236932 16:88504204-88504204 16:88437796-88437796
20 ZNF469 NM_001367624.1(ZNF469):c.4472C>T (p.Thr1491Met)SNV Conflicting interpretations of pathogenicity 281900 rs375045076 16:88498350-88498350 16:88431942-88431942
21 ZNF469 NM_001367624.1(ZNF469):c.5340C>G (p.Pro1780=)SNV Conflicting interpretations of pathogenicity 282945 rs184374078 16:88499218-88499218 16:88432810-88432810
22 ZNF469 NM_001367624.1(ZNF469):c.10700G>A (p.Gly3567Glu)SNV Conflicting interpretations of pathogenicity 291241 rs199610834 16:88504578-88504578 16:88438170-88438170
23 PRDM5 NM_018699.3(PRDM5):c.1283-5C>TSNV Conflicting interpretations of pathogenicity 347436 rs185134294 4:121702463-121702463 4:120781308-120781308
24 PRDM5 NM_018699.3(PRDM5):c.342A>C (p.Glu114Asp)SNV Conflicting interpretations of pathogenicity 347451 rs146228268 4:121742459-121742459 4:120821304-120821304
25 PRDM5 NM_018699.3(PRDM5):c.1633T>C (p.Tyr545His)SNV Conflicting interpretations of pathogenicity 347432 rs142515463 4:121631559-121631559 4:120710404-120710404
26 PRDM5 NM_018699.3(PRDM5):c.1722G>A (p.Gln574=)SNV Conflicting interpretations of pathogenicity 347431 rs147796327 4:121631470-121631470 4:120710315-120710315
27 ZNF469 NM_001367624.1(ZNF469):c.627G>T (p.Gly209=)SNV Conflicting interpretations of pathogenicity 320855 rs113227277 16:88494505-88494505 16:88428097-88428097
28 ZNF469 NM_001367624.1(ZNF469):c.1994C>T (p.Pro665Leu)SNV Conflicting interpretations of pathogenicity 320878 rs184583062 16:88495872-88495872 16:88429464-88429464
29 ZNF469 NM_001367624.1(ZNF469):c.3950A>G (p.Lys1317Arg)SNV Conflicting interpretations of pathogenicity 320915 rs772817384 16:88497828-88497828 16:88431420-88431420
30 ZNF469 NM_001367624.1(ZNF469):c.4227G>A (p.Pro1409=)SNV Conflicting interpretations of pathogenicity 320919 rs371897217 16:88498105-88498105 16:88431697-88431697
31 ZNF469 NM_001367624.1(ZNF469):c.1584G>A (p.Pro528=)SNV Conflicting interpretations of pathogenicity 320868 rs143852982 16:88495462-88495462 16:88429054-88429054
32 ZNF469 NM_001367624.1(ZNF469):c.8503G>C (p.Glu2835Gln)SNV Conflicting interpretations of pathogenicity 320989 rs200153921 16:88502381-88502381 16:88435973-88435973
33 ZNF469 NM_001367624.1(ZNF469):c.7553C>A (p.Pro2518His)SNV Conflicting interpretations of pathogenicity 320974 rs201943633 16:88501431-88501431 16:88435023-88435023
34 ZNF469 NM_001367624.1(ZNF469):c.9696G>A (p.Thr3232=)SNV Conflicting interpretations of pathogenicity 321007 rs573582117 16:88503574-88503574 16:88437166-88437166
35 ZNF469 NM_001367624.1(ZNF469):c.10325G>T (p.Arg3442Met)SNV Conflicting interpretations of pathogenicity 321012 rs199528724 16:88504203-88504203 16:88437795-88437795
36 ZNF469 NM_001367624.1(ZNF469):c.11658G>C (p.Gln3886His)SNV Conflicting interpretations of pathogenicity 321030 rs182269913 16:88505536-88505536 16:88439128-88439128
37 ZNF469 NM_001367624.1(ZNF469):c.952G>A (p.Val318Met)SNV Conflicting interpretations of pathogenicity 320861 rs139066376 16:88494830-88494830 16:88428422-88428422
38 ZNF469 NM_001367624.1(ZNF469):c.1896G>A (p.Ser632=)SNV Conflicting interpretations of pathogenicity 320875 rs554795578 16:88495774-88495774 16:88429366-88429366
39 ZNF469 NM_001367624.1(ZNF469):c.3472C>T (p.Pro1158Ser)SNV Conflicting interpretations of pathogenicity 320907 rs184894059 16:88497350-88497350 16:88430942-88430942
40 ZNF469 NM_001367624.1(ZNF469):c.5548C>A (p.Pro1850Thr)SNV Conflicting interpretations of pathogenicity 320941 rs199932922 16:88499426-88499426 16:88433018-88433018
41 ZNF469 NM_001367624.1(ZNF469):c.6259G>A (p.Ala2087Thr)SNV Conflicting interpretations of pathogenicity 320952 rs144986357 16:88500137-88500137 16:88433729-88433729
42 ZNF469 NM_001367624.1(ZNF469):c.6388C>G (p.Leu2130Val)SNV Conflicting interpretations of pathogenicity 320953 rs562559927 16:88500266-88500266 16:88433858-88433858
43 ZNF469 NM_001367624.1(ZNF469):c.7079C>T (p.Pro2360Leu)SNV Conflicting interpretations of pathogenicity 320964 rs76389306 16:88500957-88500957 16:88434549-88434549
44 ZNF469 NM_001367624.1(ZNF469):c.9321G>A (p.Pro3107=)SNV Conflicting interpretations of pathogenicity 321004 rs543846859 16:88503199-88503199 16:88436791-88436791
45 ZNF469 NM_001367624.1(ZNF469):c.8067G>A (p.Gly2689=)SNV Conflicting interpretations of pathogenicity 320980 rs116213189 16:88501945-88501945 16:88435537-88435537
46 ZNF469 NM_001367624.1(ZNF469):c.1615A>T (p.Ser539Cys)SNV Conflicting interpretations of pathogenicity 320869 rs189476639 16:88495493-88495493 16:88429085-88429085
47 ZNF469 NM_001367624.1(ZNF469):c.2085C>T (p.Pro695=)SNV Conflicting interpretations of pathogenicity 320881 rs74547407 16:88495963-88495963 16:88429555-88429555
48 ZNF469 NM_001127464.2(ZNF469):c.2914_2919delGGCGGC (p.Gly972_Gly973del)short repeat Conflicting interpretations of pathogenicity 320894 rs775423936 16:88496792-88496797 16:88430384-88430389
49 ZNF469 NM_001367624.1(ZNF469):c.3321G>A (p.Arg1107=)SNV Conflicting interpretations of pathogenicity 320905 rs763826959 16:88497199-88497199 16:88430791-88430791
50 ZNF469 NM_001367624.1(ZNF469):c.4778C>T (p.Ser1593Leu)SNV Conflicting interpretations of pathogenicity 320928 rs768864900 16:88498656-88498656 16:88432248-88432248

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

73
# Symbol AA change Variation ID SNP ID
1 PRDM5 p.Tyr107Cys VAR_066393 rs387907111

Expression for Brittle Cornea Syndrome 2

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

Pathways for Brittle Cornea Syndrome 2

GO Terms for Brittle Cornea Syndrome 2

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

# Name GO ID Score Top Affiliating Genes
1 supramolecular fiber organization GO:0097435 8.62 COL5A1 B4GALT7

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.32 ZNF496 ZNF469 RXRA PRDM5 PLOD1 LRRK1

Sources for Brittle Cornea Syndrome 2

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