MCID: BRT047
MIFTS: 42

Brittle Cornea Syndrome

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

Aliases & Classifications for Brittle Cornea Syndrome

MalaCards integrated aliases for Brittle Cornea Syndrome:

Name: Brittle Cornea Syndrome 20 58 36 29
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 20
Fragilitas Oculi with Joint Hyperextensibility 20
Dysgenesis Mesodermalis Corneae Et Sclerae 20
Cornea, Brittle, Syndrome 39

Characteristics:

Orphanet epidemiological data:

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

Classifications:

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


Summaries for Brittle Cornea Syndrome

GARD : 20 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, also known as corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility, is related to brittle cornea syndrome 1 and ehlers-danlos syndrome. An important gene associated with Brittle Cornea Syndrome is ZNF469 (Zinc Finger Protein 469). The drugs Folic acid and Riboflavin have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are corneal dystrophy and hyperextensible skin

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.

Related Diseases for Brittle Cornea Syndrome

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



Diseases related to Brittle Cornea Syndrome

Symptoms & Phenotypes for Brittle Cornea Syndrome

Human phenotypes related to Brittle Cornea Syndrome:

58 31 (show all 34)
# 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 high myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011003
4 soft skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000977
5 keratoglobus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001119
6 gait disturbance 58 31 frequent (33%) 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 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
10 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
11 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
12 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
13 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
14 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
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 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
18 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
19 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
20 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
21 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
22 hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100790
23 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
24 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
25 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
26 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
27 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
28 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
29 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
30 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001822
31 corneal erosion 58 31 occasional (7.5%) Occasional (29-5%) HP:0200020
32 increased susceptibility to fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002659
33 camptodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0012385
34 decreased corneal thickness 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Brittle Cornea Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 COG6 FOXO1 PLOD1 PRDM5

Drugs & Therapeutics for Brittle Cornea Syndrome

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
2
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
3 Vitamin B9
4 Nutrients
5 Micronutrients
6 Trace Elements
7 Photosensitizing Agents
8 Vitamin B Complex
9 Vitamins
10 Folate
11 Vitamin B2
12 Dermatologic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Riboflavin

Search NIH Clinical Center for Brittle Cornea Syndrome

Genetic Tests for Brittle Cornea Syndrome

Genetic tests related to Brittle Cornea Syndrome:

# Genetic test Affiliating Genes
1 Brittle Cornea Syndrome 29

Anatomical Context for Brittle Cornea Syndrome

MalaCards organs/tissues related to Brittle Cornea Syndrome:

40
Eye

Publications for Brittle Cornea Syndrome

Articles related to Brittle Cornea Syndrome:

(show top 50) (show all 55)
# Title Authors PMID Year
1
More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. 6 61
33739556 2021
2
A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome. 61 6
26395458 2015
3
A novel mutation in PRDM5 in brittle cornea syndrome. 6 61
22122778 2012
4
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. 6 61
21664999 2011
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. 6 61
19661234 2010
7
Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. 6 61
18452888 2008
8
Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). 6 61
7387950 1980
9
Corneal abnormalities in Ehlers-Danlos syndrome type VI. 6
8458232 1993
10
Dysgenesis mesodermalis corneae et sclerae. Rupture of both corneae in a patient with blue sclerae. 6
5755738 1968
11
Corneal rupture management with amniotic membrane graft in a patient with Brittle cornea syndrome. 61
33485690 2021
12
Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons. 61
33437956 2021
13
Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation. 61
33120686 2020
14
Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome. 61
32671420 2020
15
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years. 61
31025659 2020
16
Case Series of Brittle Cornea Syndrome. 61
32257481 2020
17
Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations. 61
31107761 2019
18
[Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene]. 61
30338343 2019
19
Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome. 61
30865045 2019
20
Brittle cornea syndrome: current perspectives. 61
31496642 2019
21
Brittle cornea syndrome: current perspectives [Response to Letter]. 61
31576105 2019
22
Brittle cornea syndrome: current perspectives [Letter]. 61
31564821 2019
23
Systematic review of differential methylation in rare ophthalmic diseases. 61
31799411 2019
24
Brittle cornea syndrome: a case report and review of the literature. 61
30227830 2018
25
Use of an onlay corneal lamellar graft for brittle cornea syndrome. 61
30115710 2018
26
Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent. 61
29228253 2017
27
Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye. 61
28453375 2017
28
Unusual case of globe perforation: the brittle cornea without systemic manifestations. 61
27758814 2016
29
Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome. 61
27032025 2016
30
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome. 61
26489929 2016
31
Genetics in Keratoconus: where are we? 61
27350955 2016
32
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. 61
26560304 2015
33
Corneal Cross-Linking for Brittle Cornea Syndrome. 61
26266434 2015
34
Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. 61
25727605 2015
35
Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus. 61
25564447 2015
36
Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature. 61
26221552 2015
37
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. 61
24895405 2014
38
Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. 61
25266838 2014
39
Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus. 61
25097247 2014
40
Ocular genetic disease in the Middle East. 61
23846189 2013
41
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
42
Brittle cornea syndrome: recognition, molecular diagnosis and management. 61
23642083 2013
43
Keratoconus in Costello syndrome. 61
23494969 2013
44
Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype. 61
23010198 2012
45
Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness. 61
22814818 2012
46
Peripartum anesthetic management of a patient with brittle cornea syndrome. 61
21258811 2011
47
Collagen-related genes influence the glaucoma risk factor, central corneal thickness. 61
21098505 2011
48
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. 61
20485516 2010
49
A novel technique to treat traumatic corneal perforation in a case of presumed brittle cornea syndrome. 61
17322473 2007
50
Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24. 61
17122114 2006

Variations for Brittle Cornea Syndrome

ClinVar genetic disease variations for Brittle Cornea Syndrome:

6 (show top 50) (show all 346)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZNF469 NM_001367624.2(ZNF469):c.6027del (p.Gly2011fs) Deletion Pathogenic 730 rs1597210953 GRCh37: 16:88499905-88499905
GRCh38: 16:88433497-88433497
2 ZNF469 ZNF469, 1-BP DEL, 9527G Deletion Pathogenic 731 GRCh37:
GRCh38:
3 ZNF469 NM_001367624.1(ZNF469):c.4258G>T (p.Glu1420Ter) SNV Pathogenic 30943 rs387907063 GRCh37: 16:88498136-88498136
GRCh38: 16:88431728-88431728
4 PRDM5 NM_018699.3(PRDM5):c.946_1623del Deletion Pathogenic 31110 GRCh37:
GRCh38:
5 PRDM5 NM_018699.3(PRDM5):c.93+1G>A SNV Pathogenic 31112 rs1267369024 GRCh37: 4:121843670-121843670
GRCh38: 4:120922515-120922515
6 PRDM5 NM_018699.3(PRDM5):c.320A>G (p.Tyr107Cys) SNV Pathogenic 31113 rs387907111 GRCh37: 4:121742481-121742481
GRCh38: 4:120821326-120821326
7 PRDM5 NM_018699.3(PRDM5):c.93+2T>C SNV Pathogenic 31115 rs1579259095 GRCh37: 4:121843669-121843669
GRCh38: 4:120922514-120922514
8 ZNF469 NM_001367624.1(ZNF469):c.10100G>A (p.Cys3367Tyr) SNV Pathogenic 30942 rs387907062 GRCh37: 16:88503978-88503978
GRCh38: 16:88437570-88437570
9 PRDM5 NM_018699.4(PRDM5):c.974delG Deletion Pathogenic 31114 rs766853150 GRCh37: 4:121720872-121720872
GRCh38: 4:120799717-120799717
10 ZNF469 NM_001367624.2(ZNF469):c.1444del (p.Leu482fs) Deletion Pathogenic 981037 GRCh37: 16:88495317-88495317
GRCh38: 16:88428909-88428909
11 ZNF469 NM_001367624.2(ZNF469):c.3307C>T (p.Gln1103Ter) SNV Pathogenic 981041 GRCh37: 16:88497185-88497185
GRCh38: 16:88430777-88430777
12 PRDM5 NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys) SNV Pathogenic 981044 GRCh37: 4:121774626-121774626
GRCh38: 4:120853471-120853471
13 PRDM5 NM_001300824.1(PRDM5):c.*83C>T SNV Pathogenic 31111 rs387907110 GRCh37: 4:121616391-121616391
GRCh38: 4:120695236-120695236
14 ZNF469 NM_001367624.2(ZNF469):c.5661_5668del (p.His1888fs) Deletion Pathogenic 1031850 GRCh37: 16:88499539-88499546
GRCh38: 16:88433131-88433138
15 PRDM5 NM_018699.4(PRDM5):c.106G>A SNV Likely pathogenic 195343 rs374583073 GRCh37: 4:121828700-121828700
GRCh38: 4:120907545-120907545
16 PRDM5 NM_018699.4(PRDM5):c.17T>G (p.Val6Gly) SNV Likely pathogenic 981042 GRCh37: 4:121843747-121843747
GRCh38: 4:120922592-120922592
17 PRDM5 NM_018699.4(PRDM5):c.1858del (p.His620fs) Deletion Likely pathogenic 981043 GRCh37: 4:121616301-121616301
GRCh38: 4:120695146-120695146
18 ZNF469 NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs) Duplication Likely pathogenic 981038 GRCh37: 16:88503753-88503754
GRCh38: 16:88437345-88437346
19 ZNF469 NM_001367624.2(ZNF469):c.1081del (p.Ala361fs) Deletion Likely pathogenic 981039 GRCh37: 16:88494959-88494959
GRCh38: 16:88428551-88428551
20 ZNF469 NM_001367624.2(ZNF469):c.1586del (p.Gly529fs) Deletion Likely pathogenic 981040 GRCh37: 16:88495462-88495462
GRCh38: 16:88429054-88429054
21 ZNF469 NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu) SNV Uncertain significance 1029102 GRCh37: 16:88504689-88504689
GRCh38: 16:88438281-88438281
22 ZNF469 NM_001367624.2(ZNF469):c.3482C>A (p.Ser1161Tyr) SNV Uncertain significance 1029103 GRCh37: 16:88497360-88497360
GRCh38: 16:88430952-88430952
23 ZNF469 NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys) SNV Uncertain significance 1029104 GRCh37: 16:88498136-88498136
GRCh38: 16:88431728-88431728
24 ZNF469 NM_001367624.2(ZNF469):c.5297G>A (p.Arg1766Gln) SNV Uncertain significance 1029105 GRCh37: 16:88499175-88499175
GRCh38: 16:88432767-88432767
25 ZNF469 NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del) Microsatellite Uncertain significance 1029106 GRCh37: 16:88500856-88500858
GRCh38: 16:88434448-88434450
26 ZNF469 NM_001367624.2(ZNF469):c.8438C>A (p.Thr2813Asn) SNV Uncertain significance 1029107 GRCh37: 16:88502316-88502316
GRCh38: 16:88435908-88435908
27 ZNF469 NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp) SNV Uncertain significance 1031848 GRCh37: 16:88504298-88504298
GRCh38: 16:88437890-88437890
28 ZNF469 NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr) SNV Uncertain significance 1031849 GRCh37: 16:88505042-88505042
GRCh38: 16:88438634-88438634
29 ZNF469 NM_001367624.1(ZNF469):c.7817A>C (p.Gln2606Pro) SNV Uncertain significance 320978 rs529250336 GRCh37: 16:88501695-88501695
GRCh38: 16:88435287-88435287
30 ZNF469 NM_001367624.1(ZNF469):c.4472C>T (p.Thr1491Met) SNV Uncertain significance 281900 rs375045076 GRCh37: 16:88498350-88498350
GRCh38: 16:88431942-88431942
31 ZNF469 NM_001367624.1(ZNF469):c.11425G>A (p.Glu3809Lys) SNV Uncertain significance 321026 rs201834513 GRCh37: 16:88505303-88505303
GRCh38: 16:88438895-88438895
32 ZNF469 NM_001367624.1(ZNF469):c.5548C>A (p.Pro1850Thr) SNV Uncertain significance 320941 rs199932922 GRCh37: 16:88499426-88499426
GRCh38: 16:88433018-88433018
33 ZNF469 NM_001367624.1(ZNF469):c.1483C>T (p.Pro495Ser) SNV Uncertain significance 429651 rs202205643 GRCh37: 16:88495361-88495361
GRCh38: 16:88428953-88428953
34 ZNF469 NM_001367624.1(ZNF469):c.8705C>T (p.Thr2902Met) SNV Uncertain significance 429662 rs536725615 GRCh37: 16:88502583-88502583
GRCh38: 16:88436175-88436175
35 ZNF469 NM_001367624.1(ZNF469):c.5114C>T (p.Thr1705Ile) SNV Uncertain significance 626208 rs768667107 GRCh37: 16:88498992-88498992
GRCh38: 16:88432584-88432584
36 ZNF469 NM_001367624.1(ZNF469):c.5340C>G (p.Pro1780=) SNV Uncertain significance 282945 rs184374078 GRCh37: 16:88499218-88499218
GRCh38: 16:88432810-88432810
37 ZNF469 NM_001367624.1(ZNF469):c.2270T>G (p.Leu757Arg) SNV Uncertain significance 282944 rs753664726 GRCh37: 16:88496148-88496148
GRCh38: 16:88429740-88429740
38 ZNF469 NM_001367624.1(ZNF469):c.8080C>T (p.Arg2694Cys) SNV Uncertain significance 320981 rs540443650 GRCh37: 16:88501958-88501958
GRCh38: 16:88435550-88435550
39 ZNF469 NM_001367624.1(ZNF469):c.4829G>A (p.Arg1610His) SNV Uncertain significance 284987 rs567038987 GRCh37: 16:88498707-88498707
GRCh38: 16:88432299-88432299
40 ZNF469 NM_001367624.1(ZNF469):c.5162G>T (p.Cys1721Phe) SNV Uncertain significance 320939 rs568197988 GRCh37: 16:88499040-88499040
GRCh38: 16:88432632-88432632
41 ZNF469 NM_001367624.2(ZNF469):c.2908_2910GGC[2] (p.Gly972_Gly973del) Microsatellite Uncertain significance 320894 rs775423936 GRCh37: 16:88496786-88496791
GRCh38: 16:88430378-88430383
42 ZNF469 NM_001367624.1(ZNF469):c.1020C>T (p.Gly340=) SNV Uncertain significance 126915 rs273585633 GRCh37: 16:88494898-88494898
GRCh38: 16:88428490-88428490
43 ZNF469 NM_001367624.1(ZNF469):c.98C>T (p.Pro33Leu) SNV Uncertain significance 320848 rs752770883 GRCh37: 16:88493976-88493976
GRCh38: 16:88427568-88427568
44 ZNF469 NM_001367624.1(ZNF469):c.3950A>G (p.Lys1317Arg) SNV Uncertain significance 320915 rs772817384 GRCh37: 16:88497828-88497828
GRCh38: 16:88431420-88431420
45 ZNF469 NM_001367624.1(ZNF469):c.4778C>T (p.Ser1593Leu) SNV Uncertain significance 320928 rs768864900 GRCh37: 16:88498656-88498656
GRCh38: 16:88432248-88432248
46 ZNF469 NM_001367624.1(ZNF469):c.11203A>G (p.Ser3735Gly) SNV Uncertain significance 321024 rs536054902 GRCh37: 16:88505081-88505081
GRCh38: 16:88438673-88438673
47 ZNF469 NM_001367624.1(ZNF469):c.2085C>T (p.Pro695=) SNV Uncertain significance 320881 rs74547407 GRCh37: 16:88495963-88495963
GRCh38: 16:88429555-88429555
48 ZNF469 NM_001367624.1(ZNF469):c.2931C>T (p.Gly977=) SNV Uncertain significance 320897 rs539527724 GRCh37: 16:88496809-88496809
GRCh38: 16:88430401-88430401
49 ZNF469 NM_001367624.1(ZNF469):c.8625G>A (p.Pro2875=) SNV Uncertain significance 320990 rs138771545 GRCh37: 16:88502503-88502503
GRCh38: 16:88436095-88436095
50 ZNF469 NM_001367624.1(ZNF469):c.8430G>A (p.Ala2810=) SNV Uncertain significance 320988 rs574024256 GRCh37: 16:88502308-88502308
GRCh38: 16:88435900-88435900

Expression for Brittle Cornea Syndrome

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

Pathways for Brittle Cornea Syndrome

GO Terms for Brittle Cornea Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 8.92 ZNF469 PRDM5 FOXO1 BANP

Sources for Brittle Cornea Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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