O que significa “Limpar”?
O animal não carrega a mutação. Não desenvolverá a doença e não vai passar adiante.
Gato Porfiria Eritropoiética Congênita Variante 1 (CEP1)
Discover the significance of DNA testing for Congenital Erythropoietic Porphyria Variant 1 (CEP1) in cats. This genetic condition affects your feline's ability to produce heme, leading to severe skin sensitivity and potential health issues. Early detection through a simple DNA test can help in managing symptoms and ensuring a better quality of life for your cat. Understanding CEP1 allows pet owners to make informed breeding decisions and prevent the spread of this hereditary disorder. Protect your furry friend by considering a DNA test for CEP1 today. Stay proactive about your cat's health and well-being. Explore more about CEP1 testing and its benefits for responsible cat ownership!
Abreviatura: CEP1
Mutação analisada: UROS c.[140C>T;331G>A]
Herança: Autossômico Recessivo
Acrônimo
CEP1
Frequência observada
Gravidade clínica
Classificação clínica
Doenças Toxicológicas
Mutação analisada
UROS c.[140C>T;331G>A]
p.[(S47F);(G111S)]
p.[(S47F);(G111S)]
Modo de herança
Autossômico Recessivo
Resumo do teste:
Congenital Erythropoietic Porphyria Variant 1 (CEP1) is a genetic condition in cats that affects their ability to produce heme, leading to a buildup of porphyrins in the body. This disorder can cause severe skin sensitivity, resulting in lesions and increased risk of infection. DNA testing for CEP1 allows breeders to identify carriers and affected cats, helping to prevent the transmission of this hereditary condition. Early detection can improve management strategies and enhance the quality of life for affected felines. Responsible breeding practices can significantly reduce the prevalence of CEP1 in cat populations.
Disponível no pacote: Basic
Este teste de DNA está incluído a partir do nosso pacote Basic - e também faz parte dos packs Basic, Standard, Advanced, Complete.
Ver pacotes de teste de DNA →Escolha o pack que melhor se adapta à sua estratégia de criação ou saúde dos seus animais.
Introduction to Congenital Erythropoietic Porphyria Variant 1 (CEP1)
Congenital Erythropoietic Porphyria Variant 1 (CEP1) is a rare genetic disorder that primarily affects cats, characterized by an abnormal accumulation of porphyrins in the body. This condition arises due to a deficiency in the enzyme uroporphyrinogen III synthase, which plays a crucial role in the heme synthesis pathway. The resulting buildup of porphyrins can lead to a range of clinical symptoms and health complications.
Clinical Manifestations
Clinical signs of CEP1 can vary significantly among affected cats, but they often include photosensitivity, anemia, and skin lesions. Affected cats may exhibit extreme sensitivity to sunlight, leading to severe skin damage when exposed to UV rays. Symptoms can also manifest as a reddish discoloration of the urine, which is indicative of porphyrin accumulation. Other potential issues include dental problems due to enamel hypoplasia and an increased risk of infections due to compromised skin integrity.
Diagnosis of CEP1
Diagnosis of Congenital Erythropoietic Porphyria Variant 1 typically involves a combination of clinical evaluations and laboratory tests. Veterinarians may conduct blood tests and urinalysis to check for elevated porphyrin levels, as well as assess the overall health of the affected cat. Genetic testing can confirm the presence of the specific mutation associated with CEP1, providing a definitive diagnosis.
Gestão e Tratamento
Currently, there is no cure for CEP1, and management focuses on alleviating symptoms and preventing complications. Affected cats should be kept indoors to avoid sunlight exposure and minimize skin damage. Supportive care may include nutritional support, management of anemia, and treatment of any secondary infections. Regular veterinary check-ups are essential to monitor the health of affected cats and adjust care as necessary.
Genetic Counseling and Testing
Genetic counseling is recommended for cat owners with affected pets or those considering breeding. DNA testing for CEP1 can help identify carriers of the mutation, allowing owners to make informed decisions regarding breeding practices. Understanding the genetic basis of this condition is crucial for mitigating its prevalence in the feline population.
Conclusão
Congenital Erythropoietic Porphyria Variant 1 represents a significant health risk for affected cats, requiring careful management and supportive care. Awareness of the condition, along with genetic testing and counseling, plays a vital role in addressing this genetic disorder and ensuring the well-being of feline companions.
Raça reconhecida para o teste: Porfiria Eritropoiética Congênita Variante 1 (CEP1)
- Abyssinian
- Aegean
- Alpine Lynx
- Altai
- American Bobtail
- American Bobtail Longhair
- American Bobtail Shorthair
- American Burmese
- American Curl
- American Curl Longhair
- American Curl Shorthair
- American Fold Longhair
- American Fold Shorthair
- American Keuda
- American Longhair
- American Lynx
- American Miniature Cat
- American Polydactyl
- American Ringtail
- American Shorthair
- American Straight Long Hair
- American Straight Shorthair
- American Wirehair
- Anatoli
- Aphrodite
- Aphrodite Giant
- Aphrodite's Giant Longhair
- Aphrodite's Giant Shorthair
- Arabian Mau
- Asian
- Asian Leopard Cat
- Asian Longhair
- Asian Semi-longhair
- Asian Shorthair
- Australian Bombay
- Australian Mist
- Aztec
- Balinese
- Bambino
- Bambino Curl
- BamBob
- Bengal
- Bengal Longhair
- Birman
- Bobcat
- Bohemian Rex
- Bombay
- Bramble
- Brazilian Shorthair
- Bristol
- British Ice Longhair
- British Ice Shorthair
- British Longhair
- British Shorthair
- Burmese
- Burmese European
- Burmese Longhair
- Burmilla
- Burmilla Longhair
- Burmilla Shorthair
- California Spangled
- California Toyger
- Californian Rex
- Canadian Feral Cat
- Canadian Sphynx
- Caracal
- Celtic
- Celtic Shorthair
- Ceylon
- Chantilly-Tiffany
- Chartreux
- Chausie
- Chinchilla Longhair
- Chinese Harlequin
- Chinese Li Hua
- Chinese Tank Cat
- Classicat
- Colorpoint Shorthair
- Companion Cat
- Copper
- Cornish Rex
- Cornish Rex Longhair
- Curly Tail Cat
- Cymric
- Cyprus
- Desert Lynx
- Deutsch Langhaar
- Devon Rex
- Domestic Longhair
- Domestic medium-haired
- Domestic Shorthair
- Don Sphynx
- Donskoy
- Dossow
- Dragon Li
- Dwelf
- Egyptian Mau
- Elf
- European
- European Burmese
- European Shorthair
- Exotic
- Exotic Shorthair
- Experimental
- Fishing Cat
- Foldex
- Foreign White
- Foreign White Longhair
- Foreign White Shorthair
- Gao Taem
- Genetta
- Geoffroy's Cat
- German Longhair
- German Rex
- Havana
- Havana Brown
- Hemingway Curl
- Hibernian Lynx
- Highland Fold
- Highland Lynx
- Highland Straight
- Highlander
- Highlander Longhair
- Highlander Shorthair
- Himalayan
- House Cat Longhair
- House Cat Shorthair
- Household Pet
- Household Pet Kitten
- Household Pet Longhair
- Household Pet Shorthair
- Isle of Man Longhair
- Isle of Man Shorthair
- Jaguarette
- Jaguarundi Curl
- Japanese Bobtail
- Japanese Bobtail Longhair
- Japanese Bobtail Shorthair
- Japanese domestic
- Javanese
- Jungala
- Jungle Cat
- Jungle Curl
- Jungle Lynx
- Junglebob
- Kanaani
- Karelian Bobtail
- Karelian Bobtail Longhair
- Khao Manee
- Khaomanee
- Kinkalow
- Korat
- Korean Bobtail
- Korn Ja
- Kurilian Bobtail
- Kurilian Bobtail Longhair
- Kurilian Bobtail Shorthair
- Lambkin
- LaPerm
- LaPerm Longhair
- LaPerm Shorthair
- Lykoi
- Maine Coon
- Maine Coon Polydactyl
- Manx
- Manx Longhair
- Manx Shorthair
- Me-kong Bobtail
- Meerkat
- Mekong Bobtail
- Minskin
- Minuet
- Minuet Longhair
- Mixed Breed
- Mohave Bob
- Mojave Spotted
- Mokave Jag Cat
- Mountain Bob
- Munchkin
- Munchkin Longhair
- Napoleon
- Nebelung
- Neva Masquerade
- Niebelung
- Non Recognized Hairless
- Non Recognized Longhair
- Non Recognized Shorthair
- Norwegian Forest Cat
- Ocicat
- Ojos Azules
- Oregon Rex (extinct)
- Oriental
- Oriental Bicolor
- Oriental Longhair
- Oriental Shorthair
- Original Longhair
- Owyhee Bob
- Pantherette
- Persian
- Peterbald
- Pharaoh
- Pixiebob
- Pixiebob Longhair
- Puppykat
- Raas
- Ragamuffin
- Ragdoll
- Ruffle
- Russian
- Russian Black
- Russian Blue
- Russian Tabby
- Russian White
- Rusty Spotted Cat
- Sacred Birman
- Safari
- Sam Sawet
- Sashkin Rex
- Savannah
- Scottish Fold
- Scottish Fold Longhair
- Scottish Longhair
- Scottish Shorthair
- Scottish Straight
- Scottish Straight Longhair
- Selkirk Rex
- Selkirk Rex Longhair
- Selkirk Rex Shorthair
- Selkirk Straight
- Serengeti
- Serrade Petit
- Serval
- Siamese
- Siamese Longhair
- Siberian
- Singapura
- Skookum
- Snowbob
- Snowshoe
- Sokoke
- Somali
- Sphynx
- Suffolk
- Suphalak
- Tennessee Bobtail
- Tennessee Rex
- Thai
- Thai Blue Point
- Thai Lilac
- Thai Lilac Point
- Tiffanie
- Tigrette
- Tonkinese
- Tonkinese Longhair
- Tonkinese Shorthair
- Toybob
- Toyger
- Traditional Siamese
- Transylvanian
- Tundra
- Turkish Angora
- Turkish Van
- Turkish Vankedisi
- Ukrainian Levkoy
- Unknown
- Ural Rex
- Ural Rex Longhair
- Vienna Woods
- Viverral
- York Chocolate
🧬 Interpretation of genotypes CEP1
Genótipo
Status
🟡 N/N
Não portador - sem risco
🟡 N/CEP1
Transportadora - Sem Risco
❌ CEP1/CEP1
Afetados - Em risco
FAQ: entendendo a interpretação
Um “transportador” é sério?
Não. O animal é geralmente saudável, mas pode transmitir a mutação ao seu descendência.
E se um animal for “afetado”?
Ele carrega duas cópias mutadas. Os sinais clínicos são esperados dependendo a doença. Não deveria ser criado.
Por que existem diferenças entre homem/mulher?
Algumas doenças estão ligadas ao sexo, pelo que a sua expressão varia dependendo do sexo do animal.
Prever descendência
N/N (nao-portador)
N/CEP1 (Operadora)
CEP1/CEP1 (Afetado)
Perguntas frequentes sobre testes de DNA
O que este teste de DNA detecta?
This DNA test detects the mutation associated with Congenital Erythropoietic Porphyria Variant 1 (CEP1) in order to identify clear, carrier, or at-risk animals.
Por que testar um animal reprodutor?
Os testes de DNA ajudam os criadores a planejar acasalamentos mais seguros e a reduzir o risco de transmissão da mutação aos descendentes.
Qual é o modo de herança deste teste?
O modo de herança relatado para este teste é Autossômico Recessivo.
Qual mutação é analisada neste teste?
This test analyses the mutation UROS c.[140C>T;331G>A].
Um animal portador é necessariamente afetado?
Não necessariamente. A interpretação depende do padrão de herança e do genótipo resultante.
Referências
Clavero Sonia, Bishop David F, Giger Urs, Haskins Mark E, Desnick Robert J. Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Mol Med. 2010 Sep-Oct;16(9-10):381-8. doi: 10.2119/molmed.2010.00038. Epub 2010 May 12.