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BCS2
MCID: BRT029
MIFTS: 54

Brittle Cornea Syndrome 2 (BCS2)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Brittle Cornea Syndrome 2

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MalaCards integrated aliases for Brittle Cornea Syndrome 2:

Name: Brittle Cornea Syndrome 2 58 12 76 30 13 6 74
Brittle Cornea Syndrome 12 54 60 38 13 15
Ehlers-Danlos Syndrome Type 6 45 74
Kyphoscoliosis 30 6
Bcs2 58 76
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 54
Fragilitas Oculi with Joint Hyperextensibility 54
Dysgenesis Mesodermalis Corneae Et Sclerae 54
Cornea, Brittle, Syndrome Type 2 41
Type Vib Ehlers-Danlos Syndrome 12
Cornea, Brittle, Syndrome 41
Ehlers-Danlos Syndrome 6b 74
Kyphoscoliosis Type 12

Characteristics:

Orphanet epidemiological data:

60
brittle cornea syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
brittle cornea syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare eye diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Brittle Cornea Syndrome 2

About this section
NIH Rare Diseases : 54 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 ehlers-danlos syndrome and kyphoscoliosis 1, and has symptoms including unspecified visual loss An important gene associated with Brittle Cornea Syndrome 2 is PRDM5 (PR/SET Domain 5), and among its related pathways/superpathways are Phospholipase-C Pathway and Collagen chain trimerization. The drugs Riboflavin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are corneal dystrophy and hyperextensible skin

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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.

Sources

Related Diseases for Brittle Cornea Syndrome 2

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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 165)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.0 CHST14 COL5A1 PLOD1
2 kyphoscoliosis 1 12.3
3 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome 12.3
4 cervical hypertrichosis with underlying kyphoscoliosis 12.2
5 ehlers-danlos syndrome, kyphoscoliotic type, 2 12.1
6 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome 12.1
7 facial abnormalities, kyphoscoliosis, and mental retardation 12.0
8 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 12.0
9 arthrogryposis, distal, type 9 11.9
10 brittle cornea syndrome 1 11.8
11 viljoen kallis voges syndrome 11.8
12 mcdonough syndrome 11.6
13 ehlers-danlos syndrome, kyphoscoliotic type, 1 11.4
14 metatropic dysplasia 11.4
15 kyphoscoliotic ehlers-danlos syndrome 11.2
16 arthrogryposis and ectodermal dysplasia 11.2
17 myopathy, congenital, bailey-bloch 11.1
18 coffin-lowry syndrome 11.1
19 brachyolmia type 3 11.0
20 spondyloepiphyseal dysplasia with congenital joint dislocations 11.0
21 parastremmatic dwarfism 11.0
22 marden-walker syndrome 11.0
23 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 11.0
24 crisponi/cold-induced sweating syndrome 1 11.0
25 mental retardation, x-linked, syndromic, snyder-robinson type 11.0
26 ehlers-danlos syndrome, musculocontractural type, 1 11.0
27 crisponi/cold-induced sweating syndrome 2 11.0
28 brachyolmia type 4 with mild epiphyseal and metaphyseal changes 11.0
29 jaberi-elahi syndrome 11.0
30 syndromic x-linked intellectual disability snyder type 11.0
31 macrocephaly, dysmorphic facies, and psychomotor retardation 11.0
32 daish hardman lamont syndrome 11.0
33 cyprus facial neuromusculoskeletal syndrome 10.9
34 desbuquois dysplasia 1 10.9
35 ullrich congenital muscular dystrophy 1 10.9
36 schwartz-jampel syndrome, type 1 10.9
37 brachyolmia type 1, hobaek type 10.9
38 subaortic stenosis--short stature syndrome 10.9
39 restrictive dermopathy, lethal 10.9
40 spondylocostal dysostosis 1, autosomal recessive 10.9
41 spondylometaphyseal dysplasia, x-linked 10.9
42 charcot-marie-tooth disease, axonal, type 2k 10.9
43 spondylocostal dysostosis 2, autosomal recessive 10.9
44 czech dysplasia 10.9
45 spondylocostal dysostosis 3, autosomal recessive 10.9
46 alopecia, neurologic defects, and endocrinopathy syndrome 10.9
47 joubert syndrome 18 10.9
48 smith-mccort dysplasia 2 10.9
49 mental retardation, autosomal recessive 39 10.9
50 ruijs-aalfs syndrome 10.9

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



Diseases related to Brittle Cornea Syndrome 2
Sources

Symptoms & Phenotypes for Brittle Cornea Syndrome 2

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Human phenotypes related to Brittle Cornea Syndrome 2:

60 33 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001131
2 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
3 keratoglobus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001119
4 soft skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000977
5 high myopia 33 hallmark (90%) HP:0011003
6 gait disturbance 60 33 occasional (7.5%) Frequent (79-30%) HP:0001288
7 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
8 osteoporosis 60 33 frequent (33%) Frequent (79-30%) HP:0000939
9 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
10 myalgia 60 33 occasional (7.5%) Frequent (79-30%) HP:0003326
11 visual loss 60 33 frequent (33%) Frequent (79-30%) HP:0000572
12 conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000405
13 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%) HP:0000978
14 blue sclerae 60 33 frequent (33%) Frequent (79-30%) HP:0000592
15 corneal scarring 60 33 frequent (33%) Frequent (79-30%) HP:0000559
16 abnormality of hair pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0009887
17 abnormality of epiphysis morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0005930
18 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
19 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
20 abnormality of the dentition 60 33 occasional (7.5%) Occasional (29-5%) HP:0000164
21 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
22 neonatal hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001319
23 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
24 hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100790
25 corneal erosion 60 33 occasional (7.5%) Occasional (29-5%) HP:0200020
26 mitral valve prolapse 60 33 occasional (7.5%) Occasional (29-5%) HP:0001634
27 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
28 retinal detachment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000541
29 arachnodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001166
30 pulmonic stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001642
31 hallux valgus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001822
32 increased susceptibility to fractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002659
33 camptodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0012385
34 inguinal hernia 33 occasional (7.5%) HP:0000023
35 umbilical hernia 33 occasional (7.5%) HP:0001537
36 megalocornea 33 occasional (7.5%) HP:0000485
37 flat cornea 33 occasional (7.5%) HP:0007720
38 recurrent fractures 33 occasional (7.5%) HP:0002757
39 sclerocornea 33 occasional (7.5%) HP:0000647
40 hearing impairment 33 HP:0000365
41 myopia 33 HP:0000545
42 joint hypermobility 33 HP:0001382
43 keratoconus 33 HP:0000563
44 severe myopia 60 Very frequent (99-80%)
45 decreased corneal thickness 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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
Sources

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 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 83-88-5 493570
2
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
3 Nutrients Not Applicable
4 Vitamin B Complex Not Applicable
5 Vitamin B2 Not Applicable
6 Trace Elements Not Applicable
7 Vitamins Not Applicable
8 Micronutrients Not Applicable
9 Vitamin B9 Not Applicable
10 Folate Not Applicable
11 Dermatologic Agents Not Applicable
12 Photosensitizing Agents Not Applicable
13 Liver Extracts
14 Hormone Antagonists Not Applicable
15 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
16 Estrogens Not Applicable
17 Steroid Synthesis Inhibitors Not Applicable
18 Estrogen Antagonists Not Applicable
19 Hormones Not Applicable
20 Aromatase Inhibitors Not Applicable
21 Estrogen Receptor Antagonists Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 How Breast Conservative Surgery (BCS) Affects Women's Daily Activities On Post-Operation 2 Days? Unknown status NCT00265213
2 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Not Applicable Riboflavin
3 Current Practice Pattern and Effect of Training in Upper Endoscopic Biopsy Completed NCT02044536
4 The Association With Peptic Ulcer Disease and Hepatic Vein Pressure Gradient Completed NCT01944878
5 Exercise to Prevent Aromatase Inhibitor Side Effects in Breast Cancer Patients Terminated NCT01954706 Not Applicable

Search NIH Clinical Center for Brittle Cornea Syndrome 2

Cochrane evidence based reviews: ehlers-danlos syndrome type 6

Sources

Genetic Tests for Brittle Cornea Syndrome 2

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Genetic tests related to Brittle Cornea Syndrome 2:

# Genetic test Affiliating Genes
1 Brittle Cornea Syndrome 2 30 PRDM5
2 Kyphoscoliosis 30
Sources

Anatomical Context for Brittle Cornea Syndrome 2

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MalaCards organs/tissues related to Brittle Cornea Syndrome 2:

42
Skin, Eye, Bone, Testes, Breast, Liver
Sources

Publications for Brittle Cornea Syndrome 2

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Articles related to Brittle Cornea Syndrome 2:

(show all 26)
# Title Authors Year
1
Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome. ( 30865045 )
2019
2
Use of an onlay corneal lamellar graft for brittle cornea syndrome. ( 30115710 )
2018
3
Brittle cornea syndrome: a case report and review of the literature. ( 30227830 )
2018
4
Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome. ( 27032025 )
2016
5
Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus. ( 25564447 )
2015
6
Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature. ( 26221552 )
2015
7
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. ( 26560304 )
2015
8
A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome. ( 26395458 )
2015
9
Corneal Cross-Linking for Brittle Cornea Syndrome. ( 26266434 )
2015
10
Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. ( 25727605 )
2015
11
Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. ( 25266838 )
2014
12
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
13
Brittle cornea syndrome: recognition, molecular diagnosis and management. ( 23642083 )
2013
14
A novel mutation in PRDM5 in brittle cornea syndrome. ( 22122778 )
2012
15
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. ( 21664999 )
2011
16
Peripartum anesthetic management of a patient with brittle cornea syndrome. ( 21258811 )
2011
17
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. ( 20485516 )
2010
18
Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. ( 19661234 )
2010
19
Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). ( 20938016 )
2010
20
Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. ( 18452888 )
2008
21
A novel technique to treat traumatic corneal perforation in a case of presumed brittle cornea syndrome. ( 17322473 )
2007
22
Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24. ( 17122114 )
2006
23
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
24
Bilateral spontaneous corneal rupture in brittle cornea syndrome: a case report. ( 10487441 )
1999
25
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
26
Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). ( 7387950 )
1980
Sources

Variations for Brittle Cornea Syndrome 2

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

76
# Symbol AA change Variation ID SNP ID
1 PRDM5 p.Tyr107Cys VAR_066393 rs387907111

ClinVar genetic disease variations for Brittle Cornea Syndrome 2:

6 (show top 50) (show all 602)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF469 NM_001127464.2(ZNF469): c.1143C> A (p.Pro381=) single nucleotide variant Benign/Likely benign rs74032864 GRCh37 Chromosome 16, 88495021: 88495021
2 ZNF469 NM_001127464.2(ZNF469): c.1143C> A (p.Pro381=) single nucleotide variant Benign/Likely benign rs74032864 GRCh38 Chromosome 16, 88428613: 88428613
3 ZNF469 NM_001127464.2(ZNF469): c.1827G> A (p.Ser609=) single nucleotide variant Conflicting interpretations of pathogenicity rs148616993 GRCh37 Chromosome 16, 88495705: 88495705
4 ZNF469 NM_001127464.2(ZNF469): c.1827G> A (p.Ser609=) single nucleotide variant Conflicting interpretations of pathogenicity rs148616993 GRCh38 Chromosome 16, 88429297: 88429297
5 ZNF469 NM_001127464.2(ZNF469): c.2717C> T (p.Pro906Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs77951481 GRCh37 Chromosome 16, 88496595: 88496595
6 ZNF469 NM_001127464.2(ZNF469): c.2717C> T (p.Pro906Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs77951481 GRCh38 Chromosome 16, 88430187: 88430187
7 ZNF469 NM_001127464.2(ZNF469): c.3153T> C (p.Ile1051=) single nucleotide variant Benign rs9924504 GRCh37 Chromosome 16, 88497031: 88497031
8 ZNF469 NM_001127464.2(ZNF469): c.3153T> C (p.Ile1051=) single nucleotide variant Benign rs9924504 GRCh38 Chromosome 16, 88430623: 88430623
9 ZNF469 NM_001127464.2(ZNF469): c.457C> G (p.Pro153Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs532620482 GRCh37 Chromosome 16, 88494335: 88494335
10 ZNF469 NM_001127464.2(ZNF469): c.457C> G (p.Pro153Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs532620482 GRCh38 Chromosome 16, 88427927: 88427927
11 ZNF469 NM_001127464.2(ZNF469): c.1069T> C (p.Ser357Pro) single nucleotide variant Benign rs11648572 GRCh37 Chromosome 16, 88494947: 88494947
12 ZNF469 NM_001127464.2(ZNF469): c.1069T> C (p.Ser357Pro) single nucleotide variant Benign rs11648572 GRCh38 Chromosome 16, 88428539: 88428539
13 ZNF469 NM_001127464.2(ZNF469): c.1098A> C (p.Arg366Ser) single nucleotide variant Benign rs11640794 GRCh37 Chromosome 16, 88494976: 88494976
14 ZNF469 NM_001127464.2(ZNF469): c.1098A> C (p.Arg366Ser) single nucleotide variant Benign rs11640794 GRCh38 Chromosome 16, 88428568: 88428568
15 ZNF469 NM_001127464.2(ZNF469): c.10891G> A (p.Gly3631Arg) single nucleotide variant Benign/Likely benign rs3812951 GRCh37 Chromosome 16, 88504853: 88504853
16 ZNF469 NM_001127464.2(ZNF469): c.10891G> A (p.Gly3631Arg) single nucleotide variant Benign/Likely benign rs3812951 GRCh38 Chromosome 16, 88438445: 88438445
17 ZNF469 NM_001127464.2(ZNF469): c.10906G= (p.Ala3636=) single nucleotide variant Benign rs904783 GRCh37 Chromosome 16, 88504868: 88504868
18 ZNF469 NM_001127464.2(ZNF469): c.10906G= (p.Ala3636=) single nucleotide variant Benign rs904783 GRCh38 Chromosome 16, 88438460: 88438460
19 ZNF469 NM_001127464.2(ZNF469): c.10242G> C (p.Arg3414Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56236932 GRCh37 Chromosome 16, 88504204: 88504204
20 ZNF469 NM_001127464.2(ZNF469): c.10242G> C (p.Arg3414Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56236932 GRCh38 Chromosome 16, 88437796: 88437796
21 ZNF469 NM_001127464.2(ZNF469): c.8543A> G (p.His2848Arg) single nucleotide variant Benign rs1983014 GRCh37 Chromosome 16, 88502505: 88502505
22 ZNF469 NM_001127464.2(ZNF469): c.8543A> G (p.His2848Arg) single nucleotide variant Benign rs1983014 GRCh38 Chromosome 16, 88436097: 88436097
23 ZNF469 NM_001127464.2(ZNF469): c.4337C> T (p.Ala1446Val) single nucleotide variant Benign/Likely benign rs199897247 GRCh37 Chromosome 16, 88498299: 88498299
24 ZNF469 NM_001127464.2(ZNF469): c.4337C> T (p.Ala1446Val) single nucleotide variant Benign/Likely benign rs199897247 GRCh38 Chromosome 16, 88431891: 88431891
25 ZNF469 ZNF469, 1-BP DEL, 5943A deletion Pathogenic
26 ZNF469 ZNF469, 1-BP DEL, 9527G deletion Pathogenic
27 ZNF469 NM_001127464.2(ZNF469): c.10016G> A (p.Cys3339Tyr) single nucleotide variant Pathogenic rs387907062 GRCh37 Chromosome 16, 88503978: 88503978
28 ZNF469 NM_001127464.2(ZNF469): c.10016G> A (p.Cys3339Tyr) single nucleotide variant Pathogenic rs387907062 GRCh38 Chromosome 16, 88437570: 88437570
29 ZNF469 NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter) single nucleotide variant Pathogenic rs387907063 GRCh37 Chromosome 16, 88498136: 88498136
30 ZNF469 NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter) single nucleotide variant Pathogenic rs387907063 GRCh38 Chromosome 16, 88431728: 88431728
31 PRDM5 NM_018699.3(PRDM5): c.946_1623del deletion Pathogenic
32 PRDM5 NM_018699.3(PRDM5): c.1768C> T (p.Arg590Ter) single nucleotide variant Pathogenic rs387907110 GRCh37 Chromosome 4, 121616391: 121616391
33 PRDM5 NM_018699.3(PRDM5): c.1768C> T (p.Arg590Ter) single nucleotide variant Pathogenic rs387907110 GRCh38 Chromosome 4, 120695236: 120695236
34 PRDM5 PRDM5, IVS1DS, G-A, +1 single nucleotide variant Pathogenic
35 PRDM5 NM_018699.3(PRDM5): c.320A> G (p.Tyr107Cys) single nucleotide variant Pathogenic rs387907111 GRCh37 Chromosome 4, 121742481: 121742481
36 PRDM5 NM_018699.3(PRDM5): c.320A> G (p.Tyr107Cys) single nucleotide variant Pathogenic rs387907111 GRCh38 Chromosome 4, 120821326: 120821326
37 PRDM5 PRDM5, 1-BP DEL, 947G deletion Pathogenic
38 PRDM5 PRDM5, IVS1DS, T-C, +2 single nucleotide variant Pathogenic
39 ZNF469 NM_001127464.2(ZNF469): c.1020C> T (p.Gly340=) single nucleotide variant Conflicting interpretations of pathogenicity rs273585633 GRCh38 Chromosome 16, 88428490: 88428490
40 ZNF469 NM_001127464.2(ZNF469): c.1020C> T (p.Gly340=) single nucleotide variant Conflicting interpretations of pathogenicity rs273585633 GRCh37 Chromosome 16, 88494898: 88494898
41 ZNF469 NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs273585618 GRCh38 Chromosome 16, 88430169: 88430169
42 ZNF469 NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs273585618 GRCh37 Chromosome 16, 88496577: 88496577
43 ZNF469 NM_001127464.2(ZNF469): c.9471C> G (p.Ala3157=) single nucleotide variant Likely benign rs273585636 GRCh38 Chromosome 16, 88437025: 88437025
44 ZNF469 NM_001127464.2(ZNF469): c.9471C> G (p.Ala3157=) single nucleotide variant Likely benign rs273585636 GRCh37 Chromosome 16, 88503433: 88503433
45 ZNF469 NM_001127464.2(ZNF469): c.3566C> T (p.Pro1189Leu) single nucleotide variant Benign/Likely benign rs115183769 GRCh37 Chromosome 16, 88497528: 88497528
46 ZNF469 NM_001127464.2(ZNF469): c.3566C> T (p.Pro1189Leu) single nucleotide variant Benign/Likely benign rs115183769 GRCh38 Chromosome 16, 88431120: 88431120
47 46;XY;t(1;10;4)(p32.2;q21.1;q23)dn Translocation Uncertain significance
48 ZNF469 NM_001127464.2(ZNF469): c.4259C> T (p.Pro1420Leu) single nucleotide variant Benign rs4782300 GRCh37 Chromosome 16, 88498221: 88498221
49 ZNF469 NM_001127464.2(ZNF469): c.4259C> T (p.Pro1420Leu) single nucleotide variant Benign rs4782300 GRCh38 Chromosome 16, 88431813: 88431813
50 ZNF469 NM_001127464.2(ZNF469): c.7183C> A (p.Pro2395Thr) single nucleotide variant Uncertain significance rs199727372 GRCh37 Chromosome 16, 88501145: 88501145
Sources

Expression for Brittle Cornea Syndrome 2

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

Pathways for Brittle Cornea Syndrome 2

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

# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 65
Show member pathways
 12.51 COL13A1 COL15A1 COL5A1 COL8A2
2
Collagen chain trimerization 67
Show member pathways
 12.08 COL13A1 COL15A1 COL5A1 COL8A2 PLOD1
3
Degradation of the extracellular matrix 67
Show member pathways
 11.67 COL13A1 COL15A1 COL5A1 COL8A2 PLOD1
4
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 23
Show member pathways
 11.66 COL13A1 COL15A1 COL5A1 COL8A2
5
G-protein signaling_Rap2B regulation pathway 23
10.36 COL13A1 COL15A1 COL5A1 COL8A2
Sources

GO Terms for Brittle Cornea Syndrome 2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.56 COL13A1 COL15A1 COL5A1 COL8A2
2 basement membrane GO:0005604 9.5 COL15A1 COL5A1 COL8A2
3 endoplasmic reticulum lumen GO:0005788 9.46 COL13A1 COL15A1 COL5A1 COL8A2
4 collagen-containing extracellular matrix GO:0062023 9.26 COL13A1 COL15A1 COL5A1 COL8A2
5 collagen trimer GO:0005581 8.92 COL13A1 COL15A1 COL5A1 COL8A2

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

# Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 9.26 COL5A1 PLOD1
2 cell adhesion GO:0007155 9.26 COL13A1 COL15A1 COL5A1 COL8A2
3 collagen catabolic process GO:0030574 9.16 COL13A1 COL15A1
4 extracellular matrix organization GO:0030198 8.92 COL13A1 COL15A1 COL5A1 COL8A2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.26 COL13A1 COL15A1 COL5A1 COL8A2
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL13A1 COL15A1 COL5A1 COL8A2
Sources

Sources for Brittle Cornea Syndrome 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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