MCID: BRT028
MIFTS: 10

Brittle Cornea Syndrome 1 malady

Genetic diseases (common) category
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Summaries for Brittle Cornea Syndrome 1

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MalaCards based summary: Brittle Cornea Syndrome 1, is also known as ehlers-danlos syndrome 6b and has symptoms including An important gene associated with Brittle Cornea Syndrome 1 is ZNF469 (zinc finger protein 469). Affiliated tissues include skin.

Description from OMIM:46 229200

Aliases & Classifications for Brittle Cornea Syndrome 1

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Brittle Cornea Syndrome 1, Aliases & Descriptions:

Name: Brittle Cornea Syndrome 1 20 46
 
Ehlers-Danlos Syndrome 6b 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Brittle Cornea Syndrome 1

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Diseases in the Brittle Cornea Syndrome 2 family:

brittle cornea syndrome 1

Symptoms for Brittle Cornea Syndrome 1

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Symptoms by clinical synopsis from OMIM:

229200

Clinical features from OMIM:

229200

HPO human phenotypes related to Brittle Cornea Syndrome 1:

(show all 21)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 macrocephaly HP:0000256
3 epicanthus HP:0000286
4 hearing impairment HP:0000365
5 myopia HP:0000545
6 keratoconus HP:0000563
7 visual loss HP:0000572
8 blue sclerae HP:0000592
9 dentinogenesis imperfecta HP:0000703
10 atypical scarring of skin HP:0000987
11 molluscoid pseudotumors HP:0000993
12 keratoglobus HP:0001119
13 congenital hip dislocation HP:0001374
14 joint laxity HP:0001388
15 disproportionate tall stature HP:0001519
16 mitral valve prolapse HP:0001634
17 red hair HP:0002297
18 scoliosis HP:0002650
19 spondylolisthesis HP:0003302
20 palmoplantar cutis laxa HP:0007517
21 decreased corneal thickness HP:0100689

Drugs & Therapeutics for Brittle Cornea Syndrome 1

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Drug clinical trials:

Search ClinicalTrials for Brittle Cornea Syndrome 1

Search NIH Clinical Center for Brittle Cornea Syndrome 1

Genetic Tests for Brittle Cornea Syndrome 1

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Genetic tests related to Brittle Cornea Syndrome 1:

id Genetic test Affiliating Genes
1 Brittle Cornea Syndrome 120 ZNF469

Anatomical Context for Brittle Cornea Syndrome 1

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MalaCards organs/tissues related to Brittle Cornea Syndrome 1:

32
Skin

Animal Models for Brittle Cornea Syndrome 1 or affiliated genes

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Publications for Brittle Cornea Syndrome 1

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Variations for Brittle Cornea Syndrome 1

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Clinvar genetic disease variations for Brittle Cornea Syndrome 1:

6
id Gene Name Type Significance SNP ID Assembly Location
1ZNF469NM_001127464.1(ZNF469): c.10016G> A (p.Cys3339Tyr)single nucleotide variantPathogenicrs387907062GRCh37Chr 16, 88503978: 88503978
2ZNF469NM_001127464.1(ZNF469): c.4174G> T (p.Glu1392Ter)single nucleotide variantPathogenicrs387907063GRCh37Chr 16, 88498136: 88498136
3ZNF469ZNF469, 1-BP DEL, 5943AdeletionPathogenic
4ZNF469ZNF469, 1-BP DEL, 9527GdeletionPathogenic

Expression for genes affiliated with Brittle Cornea Syndrome 1

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Search GEO for disease gene expression data for Brittle Cornea Syndrome 1.

Pathways for genes affiliated with Brittle Cornea Syndrome 1

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Compounds for genes affiliated with Brittle Cornea Syndrome 1

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GO Terms for genes affiliated with Brittle Cornea Syndrome 1

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Products for genes affiliated with Brittle Cornea Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Brittle Cornea Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet