Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities, and genital malformations.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2H Syndromic genetic deafness
H00687 Fraser syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H00687 Fraser syndrome
McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ
Title
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ
Title
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.
Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM
DISEASE: Unilateral or bilateral isolated cryptophthalmos
Entry
H02852 Disease
Name
Unilateral or bilateral isolated cryptophthalmos
Description
Unilateral or bilateral isolated cryptophthalmos (CRYPTOP) is a rare congenital disorder characterized by ocular dysplasia with eyelid malformation. It has been reported that mutations in FREM2 cause isolated cryptophthalmos. FREM2 is a member of the Fras1/Frem protein family that directly interacts with constituents of connective tissue through their chondroitin sulfate proteoglycan motifs, contributing to epithelial-mesenchymal coupling.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
LA14 Structural developmental anomalies of eyelid, lacrimal apparatus or orbit
H02852 Unilateral or bilateral isolated cryptophthalmos
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H02852 Unilateral or bilateral isolated cryptophthalmos
