Collagen Disorders

CYTO

Alport syndrome (disorder) Mutations in any of three genes (COL4A3, COL4A4, COL4A5) affect type IV collagen, which disrupts tissue boundaries. (Mutations GENOTYPE)  Deafness and inflamed kidneys (SIGNS and SYMPTOMS PHENOTYPE)

What is the disorder?
Mutations in any of three genes (COL4A3, COL4A4, COL4A5) affect type IV collagen, which disrupts tissue boundaries. (Mutations GENOTYPE)

Alport syndrome

What is the Mutations (genotype) for Alport syndrome?

Mutations in any of three genes (COL4A3, COL4A4, COL4A5) affect type IV collagen, which disrupts tissue boundaries.

What is the signs and symptoms (phenotype) for Alport syndrome?

Deafness and Inflamed kidneys

Chondrodysplasia (disorder) Deletion, insertion, or missense mutation replaces Gly with bulky amino acids in COL2A1 type I| collagen gene. ( mutation genotype) Stunted growth, deformed joints (signs and symptoms phenotype)

What is the disorder for this mutation?
Deletion, insertion, or missense mutation replaces Gly with bulky amino acids in COL2A1 type I| collagen gene.

Chondrodysplasia 

What is the Mutation (genotype) for this disorder, Chondrodysplasia?

Deletion, insertion, or missense mutation replaces Gly with bulky amino acids in COL2A1 type I| collagen gene.

What is the signs and symptoms (phenotype) for Chondrodysplasia?

Stunted growth and deformed joints

Dystropic epidermolysis bullosa (disorder) Mutation in COL7A1 gene that encodes type VIl collagen breaks down fibrils that attach epidermis to dermis.(mutations genotype) Skin blisters upon any touch (signs and symptoms phenotype)

What is the disorder for this mutation?
Mutation in COL7A1 gene that encodes type VIl collagen breaks down fibrils that attach epidermis to dermis

Dystropic epidermolysis bullosa

What is the Mutation for Dystropic epidermolysis bullosa?

Mutation in COL7A1 gene that encodes type VIl collagen breaks down fibrils that attach epidermis to dermis.

What is the signs and symptoms (phenotype) for Dystropic epidermolysis bullosa?

Skin blisters upon any touch

Ehlers-Danlos syndrome (disorder) Diverse mutations in at least a dozen genes affect collagen type 3 or the molecules to which they bind. (mutation genotype) Stretchy, easily scarred skin, lax joints
(signs and symptoms phenotype)

What is the disorder for this mutation?
Diverse mutations in at least a dozen genes affect collagen type 3 or the molecules to which they bind.

Ehlers-Danlos syndrome

What is the mutation for Ehlers-Danlos syndrome?

Diverse mutations in at least a dozen genes affect collagen type 3 or the molecules to which they bind.

What is the signs and symptoms (phenotype) for Ehlers-Danlos syndrome?

Stretchy, easily scarred skin, lax joints

Osteoarthritis (disorder) Missense mutation in a1 collagen gene (COL1A1) substitutes Cys for Arg. (mutation genotype) Painful joints (signs and symptoms phenotype)

What is the disorder for this mutation?
Missense mutation in a1 collagen gene (COL1A1) substitutes Cys for Arg.

Osteoarthritis

What is the mutation for Osteoarthritis disorder?

Missense mutation in a1 collagen gene (COL1A1) substitutes Cys for Arg.

What is the signs and symptoms (phenotype) for Osteoarthritis?

Painful joints 

Osteogenesis imperfecta type | ( disorder )Inactivation of a1 collagen gene (COL1A1 or COL1A2) reduces number of collagen triple helices by 50% (mutations genotype) Easily broken bones; blue eye whites; deafness (signs and symptoms phenotype)

What is the disorder for this mutation?
Inactivation of a1 collagen gene (COL1A1 or COL1A2) reduces number of collagen triple helices by 50%

Osteogenesis

What is the mutation for Osteogenesis?

Inactivation of a1 collagen gene (COL1A1 or COL1A2) reduces number of collagen triple helices by 50%

What is the signs and symptoms (phenotype) for Osteogenesis?

Easily broken bones; blue eye whites; deafness

Stickler syndrome (disorder) Nonsense mutations in type II procollagen gene (COL2A1 or COL11A1) reduce number of collagen molecules. (Mutation genotype) Joint pain, degeneration of Vitreous gel and retina (signs and symptoms phenotype)

What is the disorder for this mutation?
Nonsense mutations in type II procollagen gene (COL2A1 or COL11A1) reduce number of collagen molecules.

Stickler syndrome

What is the mutation for Stickler syndrome?

Nonsense mutations in type II procollagen gene (COL2A1 or COL11A1) reduce number of collagen molecules

What is the signs and symptoms (phenotype) for Stickler syndrome?

Joint pain, degeneration of vitreous gel and retina.