Brittle Cornea Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BRT029 MIFTS: 49	Brittle Cornea Syndrome 2 Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases
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Aliases & Classifications for Brittle Cornea Syndrome 2

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

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Congenital malformations of the musculoskeletal system, not elsewhere classified

Ehlers-Danlos syndrome

Orphanet: ⁵⁹

Rare eye diseases

Rare systemic and rhumatological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 614170

Disease Ontology ¹² DOID:14775

MeSH ⁴⁴ C536198 D004535

SNOMED-CT ⁶⁸ 25606004

Orphanet ⁵⁹ ORPHA90354

ICD10 via Orphanet ³⁴ Q79.6

UMLS via Orphanet ⁷⁴ C0268344

MedGen ⁴² C3280011

KEGG ³⁷ H01902

SNOMED-CT via HPO ⁶⁹ 258211005 396232000 422775003 more

UMLS ⁷³ C0268342 C3280011 C0268344

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Summaries for Brittle Cornea Syndrome 2

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 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 Aromatase Inhibitors and Estrogen Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and breast, 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

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 all 21)

#	Related Disease	Score	Top Affiliating Genes
1	ehlers-danlos syndrome	28.7	CHST14 COL5A1 PLOD1
2	kyphoscoliosis 1	12.1
3	cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome	12.1
4	cervical hypertrichosis with underlying kyphoscoliosis	12.0
5	ehlers-danlos syndrome, kyphoscoliotic type, 2	12.0
6	kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	11.9
7	facial abnormalities, kyphoscoliosis, and mental retardation	11.9
8	hydrocephalus, tall stature, joint laxity, and kyphoscoliosis	11.9
9	arthrogryposis, distal, type 9	11.7
10	brittle cornea syndrome 1	11.6
11	viljoen kallis voges syndrome	11.6
12	ehlers-danlos syndrome, kyphoscoliotic type, 1	11.2
13	plod1-related kyphoscoliotic ehlers-danlos syndrome	11.2
14	kyphoscoliotic ehlers-danlos syndrome	10.8
15	hypomelanosis of ito	10.2	COL5A1 PLOD1
16	collagen disease	10.0	COL5A1 PLOD1
17	scoliosis	9.7
18	aneurysm	9.7
19	corneal disease	9.6	COL8A2 ZNF469
20	congenital contractures	9.6	CHST14 PLOD1
21	keratoconus	9.4	COL5A1 COL8A2 PRDM5 ZNF469

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

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Symptoms & Phenotypes for Brittle Cornea Syndrome 2

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 44)

#	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	flat cornea ³²	occasional (7.5%)		HP:0007720
39	recurrent fractures ³²	occasional (7.5%)		HP:0002757
40	sclerocornea ³²	occasional (7.5%)		HP:0000647
41	keratoconus ³²			HP:0000563
42	severe myopia ⁵⁹		Very frequent (99-80%)
43	decreased corneal thickness ⁵⁹		Very frequent (99-80%)
44	high myopia ³²	hallmark (90%)		HP:0011003

UMLS symptoms related to Brittle Cornea Syndrome 2:

unspecified visual loss

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Drugs & Therapeutics for Brittle Cornea Syndrome 2

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

(show all 7)

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Aromatase Inhibitors		Not Applicable
2	Estrogen Antagonists		Not Applicable
3	Estrogens		Not Applicable
4	Hormone Antagonists		Not Applicable
5	Hormones		Not Applicable
6	Hormones, Hormone Substitutes, and Hormone Antagonists		Not Applicable
7	Steroid Synthesis Inhibitors		Not Applicable

Interventional clinical trials:

#	Name	Status	NCT ID	Phase
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

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Genetic Tests for Brittle Cornea Syndrome 2

Genetic tests related to Brittle Cornea Syndrome 2:

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

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Anatomical Context for Brittle Cornea Syndrome 2

MalaCards organs/tissues related to Brittle Cornea Syndrome 2:

⁴¹

Skin, Eye, Breast, Bone

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Publications for Brittle Cornea Syndrome 2

Articles related to Brittle Cornea Syndrome 2:

(show all 22)

#	Title	Authors	Year
1	Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome. ( 27032025 )	Micheal S....den Hollander A.I.	2016
2	Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus. ( 25564447 )	Davidson A.E....Hardcastle A.J.	2015
3	Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature. ( 26221552 )	Avgitidou G....Cursiefen C.	2015
4	Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. ( 26560304 )	Porter L.F....Black G.C.	2015
5	A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome. ( 26395458 )	Porter L.F....Manson F.D.	2015
6	Corneal Cross-Linking for Brittle Cornea Syndrome. ( 26266434 )	Kaufmann C....Thiel M.A.	2015
7	Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. ( 25727605 )	Khan A.O.	2015
8	Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. ( 25266838 )	Ramappa M....Trivedi R.H.	2014
9	ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. ( 23680354 )	Rohrbach M....Giunta C.	2013
10	Brittle cornea syndrome: recognition, molecular diagnosis and management. ( 23642083 )	Burkitt Wright E.M....Black G.C.	2013
11	A novel mutation in PRDM5 in brittle cornea syndrome. ( 22122778 )	Aldahmesh M.A....Alkuraya F.S.	2012
12	Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. ( 21664999 )	Burkitt Wright E.M....Black G.C.	2011
13	Peripartum anesthetic management of a patient with brittle cornea syndrome. ( 21258811 )	Ioscovich A....Shapiro Y.	2011
14	Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. ( 20485516 )	Lu Y....Mackey D.A.	2010
15	Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. ( 19661234 )	Christensen A.E....Boman H.	2010
16	Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). ( 20938016 )	Khan A.O....Alkuraya F.S.	2010
17	Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. ( 18452888 )	Abu A....Pras E.	2008
18	A novel technique to treat traumatic corneal perforation in a case of presumed brittle cornea syndrome. ( 17322473 )	Hussin H.M....Tole D.	2007
19	Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24. ( 17122114 )	Abu A....Pras E.	2006
20	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 )	Al-Hussain H....Steinmann B.	2004
21	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 )	Royce P.M....Kohlschuetter A.	1990
22	Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). ( 7387950 )	Ticho U....Merin S.	1980

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Genes for Brittle Cornea Syndrome 2

Genes related to Brittle Cornea Syndrome 2 (4 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PRDM5	PR/SET Domain 5	Protein Coding	1687.11	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21664999 26395458 8458232 (more) 22122778
2	ZNF469	Zinc Finger Protein 469	Protein Coding	794.41	Pathogenic ⁶ Causative germline mutation ⁵⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	PLOD1	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1	Protein Coding	415.28	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	KYPSC1	Kyphoscoliosis 1	Genetic Locus	50	MalaCards inferred ⁵⁷
5	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	16.74	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	SEC24D	SEC24 Homolog D, COPII Coat Complex Component	Protein Coding	16.15	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	COL13A1	Collagen Type XIII Alpha 1 Chain	Protein Coding	15.9	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	COL8A2	Collagen Type VIII Alpha 2 Chain	Protein Coding	15.84	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	COL15A1	Collagen Type XV Alpha 1 Chain	Protein Coding	15.76	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	CHST14	Carbohydrate Sulfotransferase 14	Protein Coding	15.7	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	SULT1C2	Sulfotransferase Family 1C Member 2	Protein Coding	15.61	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Brittle Cornea Syndrome 2

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 600)

#	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.1143C> A (p.Pro381=)	single nucleotide variant	Benign/Likely benign	rs74032864	GRCh37	Chromosome 16, 88495021: 88495021
16	ZNF469	NM_001127464.2(ZNF469): c.1143C> A (p.Pro381=)	single nucleotide variant	Benign/Likely benign	rs74032864	GRCh38	Chromosome 16, 88428613: 88428613
17	ZNF469	NM_001127464.2(ZNF469): c.1827G> A (p.Ser609=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148616993	GRCh37	Chromosome 16, 88495705: 88495705
18	ZNF469	NM_001127464.2(ZNF469): c.1827G> A (p.Ser609=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148616993	GRCh38	Chromosome 16, 88429297: 88429297
19	ZNF469	NM_001127464.2(ZNF469): c.2717C> T (p.Pro906Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs77951481	GRCh37	Chromosome 16, 88496595: 88496595
20	ZNF469	NM_001127464.2(ZNF469): c.2717C> T (p.Pro906Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs77951481	GRCh38	Chromosome 16, 88430187: 88430187
21	ZNF469	NM_001127464.2(ZNF469): c.3153T> C (p.Ile1051=)	single nucleotide variant	Benign	rs9924504	GRCh37	Chromosome 16, 88497031: 88497031
22	ZNF469	NM_001127464.2(ZNF469): c.3153T> C (p.Ile1051=)	single nucleotide variant	Benign	rs9924504	GRCh38	Chromosome 16, 88430623: 88430623
23	ZNF469	NM_001127464.2(ZNF469): c.457C> G (p.Pro153Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs532620482	GRCh37	Chromosome 16, 88494335: 88494335
24	ZNF469	NM_001127464.2(ZNF469): c.457C> G (p.Pro153Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs532620482	GRCh38	Chromosome 16, 88427927: 88427927
25	ZNF469	NM_001127464.2(ZNF469): c.1069T> C (p.Ser357Pro)	single nucleotide variant	Benign	rs11648572	GRCh37	Chromosome 16, 88494947: 88494947
26	ZNF469	NM_001127464.2(ZNF469): c.1069T> C (p.Ser357Pro)	single nucleotide variant	Benign	rs11648572	GRCh38	Chromosome 16, 88428539: 88428539
27	ZNF469	NM_001127464.2(ZNF469): c.1098A> C (p.Arg366Ser)	single nucleotide variant	Benign	rs11640794	GRCh37	Chromosome 16, 88494976: 88494976
28	ZNF469	NM_001127464.2(ZNF469): c.1098A> C (p.Arg366Ser)	single nucleotide variant	Benign	rs11640794	GRCh38	Chromosome 16, 88428568: 88428568
29	ZNF469	NM_001127464.2(ZNF469): c.10891G> A (p.Gly3631Arg)	single nucleotide variant	Benign/Likely benign	rs3812951	GRCh37	Chromosome 16, 88504853: 88504853
30	ZNF469	NM_001127464.2(ZNF469): c.10891G> A (p.Gly3631Arg)	single nucleotide variant	Benign/Likely benign	rs3812951	GRCh38	Chromosome 16, 88438445: 88438445
31	ZNF469	NM_001127464.2(ZNF469): c.10906G= (p.Ala3636=)	single nucleotide variant	Benign	rs904783	GRCh37	Chromosome 16, 88504868: 88504868
32	ZNF469	NM_001127464.2(ZNF469): c.10906G= (p.Ala3636=)	single nucleotide variant	Benign	rs904783	GRCh38	Chromosome 16, 88438460: 88438460
33	ZNF469	NM_001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter)	single nucleotide variant	Pathogenic	rs764139968	GRCh37	Chromosome 16, 88503146: 88503146
34	ZNF469	NM_001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter)	single nucleotide variant	Pathogenic	rs764139968	GRCh38	Chromosome 16, 88436738: 88436738
35	ZNF469	NM_001127464.2(ZNF469): c.10242G> C (p.Arg3414Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56236932	GRCh37	Chromosome 16, 88504204: 88504204
36	ZNF469	NM_001127464.2(ZNF469): c.10242G> C (p.Arg3414Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56236932	GRCh38	Chromosome 16, 88437796: 88437796
37	ZNF469	NM_001127464.2(ZNF469): c.8543A> G (p.His2848Arg)	single nucleotide variant	Benign	rs1983014	GRCh37	Chromosome 16, 88502505: 88502505
38	ZNF469	NM_001127464.2(ZNF469): c.8543A> G (p.His2848Arg)	single nucleotide variant	Benign	rs1983014	GRCh38	Chromosome 16, 88436097: 88436097
39	ZNF469	NM_001127464.2(ZNF469): c.4337C> T (p.Ala1446Val)	single nucleotide variant	Benign/Likely benign	rs199897247	GRCh37	Chromosome 16, 88498299: 88498299
40	ZNF469	NM_001127464.2(ZNF469): c.4337C> T (p.Ala1446Val)	single nucleotide variant	Benign/Likely benign	rs199897247	GRCh38	Chromosome 16, 88431891: 88431891
41	ZNF469	NM_001127464.2(ZNF469): c.3566C> T (p.Pro1189Leu)	single nucleotide variant	Benign/Likely benign	rs115183769	GRCh37	Chromosome 16, 88497528: 88497528
42	ZNF469	NM_001127464.2(ZNF469): c.3566C> T (p.Pro1189Leu)	single nucleotide variant	Benign/Likely benign	rs115183769	GRCh38	Chromosome 16, 88431120: 88431120
43	ZNF469	NM_001127464.2(ZNF469): c.7554delC (p.Ser2519Alafs)	deletion	Pathogenic/Likely pathogenic	rs886039575	GRCh37	Chromosome 16, 88501516: 88501516
44	ZNF469	NM_001127464.2(ZNF469): c.7554delC (p.Ser2519Alafs)	deletion	Pathogenic/Likely pathogenic	rs886039575	GRCh38	Chromosome 16, 88435108: 88435108
45		46;XY;t(1;10;4)(p32.2;q21.1;q23)dn	Translocation	Uncertain significance
46	ZNF469	NM_001127464.2(ZNF469): c.4259C> T (p.Pro1420Leu)	single nucleotide variant	Benign	rs4782300	GRCh37	Chromosome 16, 88498221: 88498221
47	ZNF469	NM_001127464.2(ZNF469): c.4259C> T (p.Pro1420Leu)	single nucleotide variant	Benign	rs4782300	GRCh38	Chromosome 16, 88431813: 88431813
48	ZNF469	NM_001127464.2(ZNF469): c.7183C> A (p.Pro2395Thr)	single nucleotide variant	Uncertain significance	rs199727372	GRCh37	Chromosome 16, 88501145: 88501145
49	ZNF469	NM_001127464.2(ZNF469): c.7183C> A (p.Pro2395Thr)	single nucleotide variant	Uncertain significance	rs199727372	GRCh38	Chromosome 16, 88434737: 88434737
50	ZNF469	NM_001127464.2(ZNF469): c.4388C> T (p.Thr1463Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs375045076	GRCh37	Chromosome 16, 88498350: 88498350

Sources

Expression for Brittle Cornea Syndrome 2

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

Sources

Pathways for Brittle Cornea Syndrome 2

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 PTEN Pathway ⁶⁴	12.35	COL13A1 COL15A1 COL5A1 COL8A2
2	Collagen chain trimerization ⁶⁶ Show member pathways Anchoring fibril formation ⁶⁶ Assembly of collagen fibrils and other multimeric structures ⁶⁶ Blood Coagulation Cascade ⁶⁴ Collagen biosynthesis and modifying enzymes ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴ Protein digestion and absorption ³⁷	12.08	COL13A1 COL15A1 COL5A1 COL8A2 PLOD1
3	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	11.68	COL13A1 COL15A1 COL5A1 COL8A2 PLOD1

Sources

GO Terms for Brittle Cornea Syndrome 2

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	9.43	COL15A1 COL5A1 COL8A2
2	basement membrane	GO:0005604	9.33	COL15A1 COL5A1 COL8A2
3	endoplasmic reticulum lumen	GO:0005788	9.26	COL13A1 COL15A1 COL5A1 COL8A2
4	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	cell adhesion	GO:0007155	9.46	COL13A1 COL15A1 COL5A1 COL8A2
2	extracellular matrix organization	GO:0030198	9.13	COL13A1 COL5A1 COL8A2
3	collagen catabolic process	GO:0030574	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	8.96	COL5A1 COL8A2
2	sulfotransferase activity	GO:0008146	8.62	CHST14 SULT1C2

Sources

Sources for Brittle Cornea Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia