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BCS2
MCID: BRT029
MIFTS: 50

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 57 12 75 29 13 6 73
Brittle Cornea Syndrome 12 53 59 37 13 15
Ehlers-Danlos Syndrome Type 6 44 73
Kyphoscoliosis 29 6
Bcs2 57 75
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 53
Fragilitas Oculi with Joint Hyperextensibility 53
Dysgenesis Mesodermalis Corneae Et Sclerae 53
Cornea, Brittle, Syndrome Type 2 40
Type Vib Ehlers-Danlos Syndrome 12
Cornea, Brittle, Syndrome 40
Ehlers-Danlos Syndrome 6b 73
Kyphoscoliosis Type 12

Characteristics:

Orphanet epidemiological data:

59
brittle cornea syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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: 34
Orphanet: 59  
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 : 53 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.

MalaCards based summary : Brittle Cornea Syndrome 2, also known as brittle cornea syndrome, is related to ehlers-danlos syndrome and keratoconus, 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 Hormones, Hormone Substitutes, and Hormone Antagonists and Estrogen Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are abnormality of epiphysis morphology and gait disturbance

OMIM : 57 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 : 75 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.

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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 146)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.3 CHST14 COL5A1 PLOD1
2 keratoconus 29.9 COL5A1 COL8A2 PRDM5 ZNF469
3 kyphoscoliosis 1 12.3
4 cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome 12.3
5 cervical hypertrichosis with underlying kyphoscoliosis 12.2
6 ehlers-danlos syndrome, kyphoscoliotic type, 2 12.1
7 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome 12.1
8 facial abnormalities, kyphoscoliosis, and mental retardation 12.0
9 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis 12.0
10 arthrogryposis, distal, type 9 11.8
11 brittle cornea syndrome 1 11.8
12 viljoen kallis voges syndrome 11.7
13 mcdonough syndrome 11.5
14 ehlers-danlos syndrome, kyphoscoliotic type, 1 11.4
15 metatropic dysplasia 11.3
16 arthrogryposis and ectodermal dysplasia 11.1
17 myopathy, congenital, bailey-bloch 11.1
18 crisponi/cold-induced sweating syndrome 1 11.1
19 coffin-lowry syndrome 11.1
20 brachyolmia type 3 11.0
21 spondyloepiphyseal dysplasia with congenital joint dislocations 11.0
22 parastremmatic dwarfism 11.0
23 marden-walker syndrome 11.0
24 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 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 kyphoscoliotic ehlers-danlos syndrome 11.0
32 macrocephaly, dysmorphic facies, and psychomotor retardation 11.0
33 daish hardman lamont syndrome 11.0
34 cyprus facial neuromusculoskeletal syndrome 10.9
35 desbuquois dysplasia 1 10.9
36 ullrich congenital muscular dystrophy 1 10.9
37 schwartz-jampel syndrome, type 1 10.9
38 brachyolmia type 1, hobaek type 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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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Brittle Cornea Syndrome 2:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
2 gait disturbance 59 32 occasional (7.5%) Frequent (79-30%) HP:0001288
3 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
4 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
5 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
6 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
7 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
8 neonatal hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001319
9 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
10 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
11 hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100790
12 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
13 corneal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001131
14 corneal erosion 59 32 occasional (7.5%) Occasional (29-5%) HP:0200020
15 myalgia 59 32 occasional (7.5%) Frequent (79-30%) HP:0003326
16 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
17 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
18 visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000572
19 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
20 mitral valve prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0001634
21 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
22 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
23 pulmonic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001642
24 hallux valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001822
25 blue sclerae 59 32 frequent (33%) Frequent (79-30%) HP:0000592
26 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
27 keratoglobus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001119
28 increased susceptibility to fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002659
29 camptodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0012385
30 soft skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000977
31 corneal scarring 59 32 frequent (33%) Frequent (79-30%) HP:0000559
32 abnormality of hair pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0009887
33 inguinal hernia 32 occasional (7.5%) HP:0000023
34 hearing impairment 32 HP:0000365
35 umbilical hernia 32 occasional (7.5%) HP:0001537
36 megalocornea 32 occasional (7.5%) HP:0000485
37 myopia 32 HP:0000545
38 joint hypermobility 32 HP:0001382
39 flat cornea 32 occasional (7.5%) HP:0007720
40 recurrent fractures 32 occasional (7.5%) HP:0002757
41 sclerocornea 32 occasional (7.5%) HP:0000647
42 keratoconus 32 HP:0000563
43 severe myopia 59 Very frequent (99-80%)
44 decreased corneal thickness 59 Very frequent (99-80%)
45 high myopia 32 hallmark (90%) HP:0011003

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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
2 Estrogen Antagonists Not Applicable
3 Hormones Not Applicable
4 Estrogens Not Applicable
5 Steroid Synthesis Inhibitors Not Applicable
6 Hormone Antagonists Not Applicable
7 Estrogen Receptor Antagonists Not Applicable
8 Aromatase Inhibitors 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 Current Practice Pattern and Effect of Training in Upper Endoscopic Biopsy Completed NCT02044536
3 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 29 PRDM5
2 Kyphoscoliosis 29
Sources

Anatomical Context for Brittle Cornea Syndrome 2

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MalaCards organs/tissues related to Brittle Cornea Syndrome 2:

41
Skin, Eye, Bone, Lung, Heart, Tongue, Spinal Cord
Sources

Publications for Brittle Cornea Syndrome 2

About this section

Articles related to Brittle Cornea Syndrome 2:

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

75
# 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 607)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF469 ZNF469, 1-BP DEL, 5943A deletion Pathogenic
2 ZNF469 ZNF469, 1-BP DEL, 9527G deletion Pathogenic
3 ZNF469 NM_001127464.2(ZNF469): c.10016G> A (p.Cys3339Tyr) single nucleotide variant Pathogenic rs387907062 GRCh37 Chromosome 16, 88503978: 88503978
4 ZNF469 NM_001127464.2(ZNF469): c.10016G> A (p.Cys3339Tyr) single nucleotide variant Pathogenic rs387907062 GRCh38 Chromosome 16, 88437570: 88437570
5 ZNF469 NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter) single nucleotide variant Pathogenic rs387907063 GRCh37 Chromosome 16, 88498136: 88498136
6 ZNF469 NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter) single nucleotide variant Pathogenic rs387907063 GRCh38 Chromosome 16, 88431728: 88431728
7 PRDM5 NM_018699.3(PRDM5): c.946_1623del deletion Pathogenic
8 PRDM5 NM_018699.3(PRDM5): c.1768C> T (p.Arg590Ter) single nucleotide variant Pathogenic rs387907110 GRCh37 Chromosome 4, 121616391: 121616391
9 PRDM5 NM_018699.3(PRDM5): c.1768C> T (p.Arg590Ter) single nucleotide variant Pathogenic rs387907110 GRCh38 Chromosome 4, 120695236: 120695236
10 PRDM5 PRDM5, IVS1DS, G-A, +1 single nucleotide variant Pathogenic
11 PRDM5 NM_018699.3(PRDM5): c.320A> G (p.Tyr107Cys) single nucleotide variant Pathogenic rs387907111 GRCh37 Chromosome 4, 121742481: 121742481
12 PRDM5 NM_018699.3(PRDM5): c.320A> G (p.Tyr107Cys) single nucleotide variant Pathogenic rs387907111 GRCh38 Chromosome 4, 120821326: 120821326
13 PRDM5 PRDM5, 1-BP DEL, 947G deletion Pathogenic
14 PRDM5 PRDM5, IVS1DS, T-C, +2 single nucleotide variant Pathogenic
15 ZNF469 NM_001127464.2(ZNF469): c.1020C> T (p.Gly340=) single nucleotide variant Conflicting interpretations of pathogenicity rs273585633 GRCh38 Chromosome 16, 88428490: 88428490
16 ZNF469 NM_001127464.2(ZNF469): c.1020C> T (p.Gly340=) single nucleotide variant Conflicting interpretations of pathogenicity rs273585633 GRCh37 Chromosome 16, 88494898: 88494898
17 ZNF469 NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs273585618 GRCh38 Chromosome 16, 88430169: 88430169
18 ZNF469 NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs273585618 GRCh37 Chromosome 16, 88496577: 88496577
19 ZNF469 NM_001127464.2(ZNF469): c.9471C> G (p.Ala3157=) single nucleotide variant Likely benign rs273585636 GRCh38 Chromosome 16, 88437025: 88437025
20 ZNF469 NM_001127464.2(ZNF469): c.9471C> G (p.Ala3157=) single nucleotide variant Likely benign rs273585636 GRCh37 Chromosome 16, 88503433: 88503433
21 ZNF469 NM_001127464.2(ZNF469): c.1143C> A (p.Pro381=) single nucleotide variant Benign/Likely benign rs74032864 GRCh37 Chromosome 16, 88495021: 88495021
22 ZNF469 NM_001127464.2(ZNF469): c.1143C> A (p.Pro381=) single nucleotide variant Benign/Likely benign rs74032864 GRCh38 Chromosome 16, 88428613: 88428613
23 ZNF469 NM_001127464.2(ZNF469): c.1827G> A (p.Ser609=) single nucleotide variant Conflicting interpretations of pathogenicity rs148616993 GRCh37 Chromosome 16, 88495705: 88495705
24 ZNF469 NM_001127464.2(ZNF469): c.1827G> A (p.Ser609=) single nucleotide variant Conflicting interpretations of pathogenicity rs148616993 GRCh38 Chromosome 16, 88429297: 88429297
25 ZNF469 NM_001127464.2(ZNF469): c.2717C> T (p.Pro906Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs77951481 GRCh37 Chromosome 16, 88496595: 88496595
26 ZNF469 NM_001127464.2(ZNF469): c.2717C> T (p.Pro906Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs77951481 GRCh38 Chromosome 16, 88430187: 88430187
27 ZNF469 NM_001127464.2(ZNF469): c.3153T> C (p.Ile1051=) single nucleotide variant Benign rs9924504 GRCh37 Chromosome 16, 88497031: 88497031
28 ZNF469 NM_001127464.2(ZNF469): c.3153T> C (p.Ile1051=) single nucleotide variant Benign rs9924504 GRCh38 Chromosome 16, 88430623: 88430623
29 ZNF469 NM_001127464.2(ZNF469): c.457C> G (p.Pro153Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs532620482 GRCh37 Chromosome 16, 88494335: 88494335
30 ZNF469 NM_001127464.2(ZNF469): c.457C> G (p.Pro153Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs532620482 GRCh38 Chromosome 16, 88427927: 88427927
31 ZNF469 NM_001127464.2(ZNF469): c.1069T> C (p.Ser357Pro) single nucleotide variant Benign rs11648572 GRCh37 Chromosome 16, 88494947: 88494947
32 ZNF469 NM_001127464.2(ZNF469): c.1069T> C (p.Ser357Pro) single nucleotide variant Benign rs11648572 GRCh38 Chromosome 16, 88428539: 88428539
33 ZNF469 NM_001127464.2(ZNF469): c.1098A> C (p.Arg366Ser) single nucleotide variant Benign rs11640794 GRCh37 Chromosome 16, 88494976: 88494976
34 ZNF469 NM_001127464.2(ZNF469): c.1098A> C (p.Arg366Ser) single nucleotide variant Benign rs11640794 GRCh38 Chromosome 16, 88428568: 88428568
35 ZNF469 NM_001127464.2(ZNF469): c.10891G> A (p.Gly3631Arg) single nucleotide variant Benign/Likely benign rs3812951 GRCh37 Chromosome 16, 88504853: 88504853
36 ZNF469 NM_001127464.2(ZNF469): c.10891G> A (p.Gly3631Arg) single nucleotide variant Benign/Likely benign rs3812951 GRCh38 Chromosome 16, 88438445: 88438445
37 ZNF469 NM_001127464.2(ZNF469): c.10906G= (p.Ala3636=) single nucleotide variant Benign rs904783 GRCh37 Chromosome 16, 88504868: 88504868
38 ZNF469 NM_001127464.2(ZNF469): c.10906G= (p.Ala3636=) single nucleotide variant Benign rs904783 GRCh38 Chromosome 16, 88438460: 88438460
39 ZNF469 NM_001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter) single nucleotide variant Pathogenic rs764139968 GRCh37 Chromosome 16, 88503146: 88503146
40 ZNF469 NM_001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter) single nucleotide variant Pathogenic rs764139968 GRCh38 Chromosome 16, 88436738: 88436738
41 ZNF469 NM_001127464.2(ZNF469): c.10242G> C (p.Arg3414Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56236932 GRCh37 Chromosome 16, 88504204: 88504204
42 ZNF469 NM_001127464.2(ZNF469): c.10242G> C (p.Arg3414Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56236932 GRCh38 Chromosome 16, 88437796: 88437796
43 ZNF469 NM_001127464.2(ZNF469): c.8543A> G (p.His2848Arg) single nucleotide variant Benign rs1983014 GRCh37 Chromosome 16, 88502505: 88502505
44 ZNF469 NM_001127464.2(ZNF469): c.8543A> G (p.His2848Arg) single nucleotide variant Benign rs1983014 GRCh38 Chromosome 16, 88436097: 88436097
45 ZNF469 NM_001127464.2(ZNF469): c.4337C> T (p.Ala1446Val) single nucleotide variant Benign/Likely benign rs199897247 GRCh37 Chromosome 16, 88498299: 88498299
46 ZNF469 NM_001127464.2(ZNF469): c.4337C> T (p.Ala1446Val) single nucleotide variant Benign/Likely benign rs199897247 GRCh38 Chromosome 16, 88431891: 88431891
47 ZNF469 NM_001127464.2(ZNF469): c.3566C> T (p.Pro1189Leu) single nucleotide variant Benign/Likely benign rs115183769 GRCh37 Chromosome 16, 88497528: 88497528
48 ZNF469 NM_001127464.2(ZNF469): c.3566C> T (p.Pro1189Leu) single nucleotide variant Benign/Likely benign rs115183769 GRCh38 Chromosome 16, 88431120: 88431120
49 ZNF469 NM_001127464.2(ZNF469): c.7554delC (p.Ser2519Alafs) deletion Pathogenic/Likely pathogenic rs886039575 GRCh37 Chromosome 16, 88501516: 88501516
50 ZNF469 NM_001127464.2(ZNF469): c.7554delC (p.Ser2519Alafs) deletion Pathogenic/Likely pathogenic rs886039575 GRCh38 Chromosome 16, 88435108: 88435108
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 64
Show member pathways
 12.51 COL13A1 COL15A1 COL5A1 COL8A2
2
Collagen chain trimerization 66
Show member pathways
 12.08 COL13A1 COL15A1 COL5A1 COL8A2 PLOD1
3
Degradation of the extracellular matrix 66
Show member pathways
 11.68 COL13A1 COL15A1 COL5A1 COL8A2 PLOD1
4
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 11.66 COL13A1 COL15A1 COL5A1 COL8A2
5
G-protein signaling_Rap2B regulation pathway 22
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 sulfotransferase activity GO:0008146 9.16 CHST14 SULT1C2
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL13A1 COL15A1 COL5A1 COL8A2
Sources

Sources for Brittle Cornea Syndrome 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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