Hvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Traits
Traits linked to APC
APC regulator of Wnt signaling pathway
The Human Phenotype Ontology links 158 traits to APC, by body system: features seen in people with one of the gene's rare conditions.
Hvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Hvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Abnormality of the digestive system
Abnormality of head or neck
| Trait | Hvor ofte den forekommer |
|---|---|
| Frontal bossing | Svært ofte (80–99 %) |
| Abnormal dentition | Ofte (30–79 %) |
| Abnormality of canine | Ofte (30–79 %) |
| Big lower jaw | Ofte (30–79 %) |
| Broad nasal tip | Ofte (30–79 %) |
| Downward slanting of the opening between the eyelids | Ofte (30–79 %) |
| Full upper lip | Ofte (30–79 %) |
| High forehead | Ofte (30–79 %) |
| High palate | Ofte (30–79 %) |
| Long face | Ofte (30–79 %) |
| Long philtrum | Ofte (30–79 %) |
| Narrow mouth | Ofte (30–79 %) |
| Relatively large head | Ofte (30–79 %) |
| Abnormal cementum morphology | Noen ganger (5–29 %) |
| Abnormal tooth enamel | Noen ganger (5–29 %) |
| Beaked nose | Noen ganger (5–29 %) |
| Dental cavities | Noen ganger (5–29 %) |
| Everted eyelid | Noen ganger (5–29 %) |
| Extra teeth | Noen ganger (5–29 %) |
| Failure of development of between one and six teeth | Noen ganger (5–29 %) |
| Failure of eruption of tooth | Noen ganger (5–29 %) |
| High, narrow palate | Noen ganger (5–29 %) |
| Little lower jaw | Noen ganger (5–29 %) |
| Low hairline at back of neck | Noen ganger (5–29 %) |
| Odontoma | Noen ganger (5–29 %) |
| Short neck | Noen ganger (5–29 %) |
| Short nose | Noen ganger (5–29 %) |
| Short philtrum | Noen ganger (5–29 %) |
| Zygomatic flattening | Noen ganger (5–29 %) |
Abnormality of limbs
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormal shape of long bones of hand | Svært ofte (80–99 %) |
| Finger syndactyly | Svært ofte (80–99 %) |
| Fusion of wrist bones | Svært ofte (80–99 %) |
| Oligodactyly | Svært ofte (80–99 %) |
| Fused forearm bones | Ofte (30–79 %) |
| Fused toes | Ofte (30–79 %) |
| Short thumb | Ofte (30–79 %) |
| Underdeveloped inner large forearm bone | Ofte (30–79 %) |
| Underdeveloped outer large forearm bone | Ofte (30–79 %) |
| Elbow dislocation | Noen ganger (5–29 %) |
| Hip dislocation | Noen ganger (5–29 %) |
| Missing toes | Noen ganger (5–29 %) |
| Single transverse palmar crease | Noen ganger (5–29 %) |
| Smaller or shorter than typical limbs | Noen ganger (5–29 %) |
Abnormality of the integument
| Trait | Hvor ofte den forekommer |
|---|---|
| Absent fingernail | Svært ofte (80–99 %) |
| Firm lump under the skin | Svært ofte (80–99 %) |
| Absent toenail | Ofte (30–79 %) |
| Early balding | Ofte (30–79 %) |
| Epidermoid cyst | Ofte (30–79 %) |
| Abnormal fingerprints | Noen ganger (5–29 %) |
| Papilloma | Noen ganger (5–29 %) |
| Skin cancer | Noen ganger (5–29 %) |
| Localized skin lesion | Sjelden (1–4%) |
| Pilomatrixoma | Sjelden (1–4%) |
| Keloids | Ikke registrert |
| Patchy darkened skin | Ikke registrert |
Abnormality of the musculoskeletal system
| Trait | Hvor ofte den forekommer |
|---|---|
| Fusion of joints | Svært ofte (80–99 %) |
| Muscular abnormality | Svært ofte (80–99 %) |
| Osteoma | Ofte (30–79 %) |
| Abnormal vertebral body morphology | Noen ganger (5–29 %) |
| Abnormality of the ribs | Noen ganger (5–29 %) |
| Breakdown of bone | Noen ganger (5–29 %) |
| Generalized decreased muscle tone | Noen ganger (5–29 %) |
| Limitation of joint mobility | Noen ganger (5–29 %) |
| Scoliosis | Noen ganger (5–29 %) |
| Spastic walk | Noen ganger (5–29 %) |
| Fatty lump | Sjelden (1–4%) |
| Multiple fatty lumps | Ikke registrert |
Abnormality of the endocrine system
| Trait | Hvor ofte den forekommer |
|---|---|
| Thyroid nodule | Ofte (30–79 %) |
| Abnormality of the thyroid gland | Noen ganger (5–29 %) |
| Adrenocortical adenoma | Noen ganger (5–29 %) |
| Neoplasm of the adrenal gland | Noen ganger (5–29 %) |
| Papillary thyroid carcinoma | Noen ganger (5–29 %) |
| Thyroid adenoma | Noen ganger (5–29 %) |
| Underactive thyroid | Noen ganger (5–29 %) |
| Adrenocortical carcinoma | Sjelden (1–4%) |
| Enlarged thyroid gland in neck | Sjelden (1–4%) |
| Noncancerous tumor in pituitary gland | Sjelden (1–4%) |
| Thyroid gland inflammation | Sjelden (1–4%) |
Abnormality of the genitourinary system
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormality of the upper urinary tract | Noen ganger (5–29 %) |
| Absent/small kidney | Noen ganger (5–29 %) |
| Crossed fused renal ectopia | Noen ganger (5–29 %) |
| Hydronephrosis | Noen ganger (5–29 %) |
| Multiple kidney cysts | Noen ganger (5–29 %) |
| Uterine leiomyoma | Noen ganger (5–29 %) |
| Abnormality of the kidney | Sjelden (1–4%) |
| Cancer starting in small tubes in kidneys | Ikke registrert |
| Transitional cell carcinoma of the bladder | Ikke registrert |
| Uterine leiomyosarcoma | Ikke registrert |
Abnormality of the eye
| Trait | Hvor ofte den forekommer |
|---|---|
| Congenital hypertrophy of retinal pigment epithelium | Svært ofte (80–99 %) |
| Abnormal retinal pigmentation | Ofte (30–79 %) |
| Wide-set eyes | Ofte (30–79 %) |
| Bulging eye | Noen ganger (5–29 %) |
| Clouding of the lens of the eye | Noen ganger (5–29 %) |
| Drooping upper eyelid | Noen ganger (5–29 %) |
| Involuntary, rapid, rhythmic eye movements | Noen ganger (5–29 %) |
| Optic disc hypoplasia | Noen ganger (5–29 %) |
| Posterior polar cataract | Noen ganger (5–29 %) |
Abnormality of the nervous system
| Trait | Hvor ofte den forekommer |
|---|---|
| Intellectual disability, mild | Ofte (30–79 %) |
| Reading disability | Ofte (30–79 %) |
| Astrocytoma | Noen ganger (5–29 %) |
| Brain neoplasm | Sjelden (1–4%) |
| Ependymoma | Sjelden (1–4%) |
| Medulloblastoma | Sjelden (1–4%) |
Abnormal tissue mass
| Trait | Hvor ofte den forekommer |
|---|---|
| Fibroma | Svært ofte (80–99 %) |
| Angiofibromas | Noen ganger (5–29 %) |
| Soft tissue neoplasm | Sjelden (1–4%) |
| Carcinoma | Ikke registrert |
Abnormality of blood and blood-forming tissues
| Trait | Hvor ofte den forekommer |
|---|---|
| Intestinal bleeding | Ofte (30–79 %) |
| Iron deficiency anemia | Ofte (30–79 %) |
| Black feces | Noen ganger (5–29 %) |
| Gastrointestinal bleeding | Noen ganger (5–29 %) |
Constitutional symptom
| Trait | Hvor ofte den forekommer |
|---|---|
| Muscle ache | Ofte (30–79 %) |
| Chest pain | Noen ganger (5–29 %) |
| Joint pain | Noen ganger (5–29 %) |
Abnormality of the breast
| Trait | Hvor ofte den forekommer |
|---|---|
| Breast cancer | Noen ganger (5–29 %) |
| Fibroadenoma of the breast | Noen ganger (5–29 %) |
Abnormality of the ear
| Trait | Hvor ofte den forekommer |
|---|---|
| Hearing impairment | Noen ganger (5–29 %) |
| Prominent ear | Noen ganger (5–29 %) |
Abnormality of the respiratory system
| Trait | Hvor ofte den forekommer |
|---|---|
| Obstructive lung disease | Noen ganger (5–29 %) |
| Softening of voice box tissue | Noen ganger (5–29 %) |
Abnormality of the immune system
| Trait | Hvor ofte den forekommer |
|---|---|
| Infection in blood stream | Noen ganger (5–29 %) |
Laboratory abnormality
| Trait | Hvor ofte den forekommer |
|---|---|
| Increased level of L-fucose in urine | Ikke registrert |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Slik er informasjonen samlet
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to APC and how often each is seen. Find out more at hpo.jax.org.
Hvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker