Tunnused

Geeniga CDH11 seotud tunnused

cadherin 11

Inimese fenotüübi ontoloogia seostab geeniga CDH11 114 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Absence of front tooth	Alati
Bad bite	Alati
Big lower jaw	Alati
Broad philtrum	Alati
Bulbous nose	Alati
Delayed eruption of teeth	Alati
High palate	Alati
Multiple impacted teeth	Alati
Nasal tip, upturned	Alati
Pointed chin	Alati
Premature glabellar skin wrinkling	Alati
Thick eyebrow	Alati
Thin red part of the upper lip	Alati
Wide nasal bridge	Alati
Wide nose	Alati
Abnormal dentin	Väga sageli (80–99%)
Abnormal dentition	Väga sageli (80–99%)
Abnormal sella turcica morphology	Väga sageli (80–99%)
Abnormality of the midface	Väga sageli (80–99%)
Abnormally small head	Väga sageli (80–99%)
Advanced pneumatization of the mastoid process	Väga sageli (80–99%)
Bifid uvula	Väga sageli (80–99%)
Blepharochalasis	Väga sageli (80–99%)
Broad head shape	Väga sageli (80–99%)
Broad nasal tip	Väga sageli (80–99%)
Chin with horizontal crease	Väga sageli (80–99%)
Corners of eye widely separated	Väga sageli (80–99%)
Decreased size of maxilla	Väga sageli (80–99%)
Dental cavities	Väga sageli (80–99%)
Depressed nasal bridge	Väga sageli (80–99%)
Downturned corners of mouth	Väga sageli (80–99%)
Flat face	Väga sageli (80–99%)
High forehead	Väga sageli (80–99%)
Highly arched eyebrow	Väga sageli (80–99%)
Increased thickness of skull cap	Väga sageli (80–99%)
Monobrow	Väga sageli (80–99%)
One sided cleft palate	Väga sageli (80–99%)
Rootless teeth	Väga sageli (80–99%)
Short neck	Väga sageli (80–99%)
Submucous cleft hard palate	Väga sageli (80–99%)
Wrinkles around the eyes	Väga sageli (80–99%)
Broad forehead	Sageli (30–79%)
Cleft nasal tip	Sageli (30–79%)
Decreased volume of lip	Sageli (30–79%)
Deformity of the skull	Sageli (30–79%)
Downward slanting of the opening between the eyelids	Sageli (30–79%)
Drooping lower lip	Sageli (30–79%)
Early tooth loss	Sageli (30–79%)
Extra teeth	Sageli (30–79%)
Impacted tooth	Sageli (30–79%)
Short nose	Sageli (30–79%)
Short philtrum	Sageli (30–79%)
Wider-than-typical soft spot of skull	Sageli (30–79%)
Zygomatic flattening	Sageli (30–79%)
Cleft eyelid	Mõnikord (5–29%)
Cleft palate	Mõnikord (5–29%)
Cleft upper eyelid	Mõnikord (5–29%)
Decreased size of tooth	Mõnikord (5–29%)
Facial asymmetry	Harva (1–4%)
Full lower lip	Pole registreeritud
Long philtrum	Pole registreeritud
Low hanging columella	Pole registreeritud
Midface retrusion	Pole registreeritud
Narrow forehead	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Bulging eye	Alati
Wide-set eyes	Alati
Cross-eyed	Väga sageli (80–99%)
Clouding of the lens of the eye	Sageli (30–79%)
Enlarged cornea	Sageli (30–79%)
Exodeviation	Sageli (30–79%)
Glaucoma	Sageli (30–79%)
Increased cup-to-disc ratio	Sageli (30–79%)
Phthisis bulbi	Sageli (30–79%)
Drooping upper eyelid	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Delayed fine motor development	Alati
Global developmental delay	Alati
Intellectual disability	Alati
Intellectual disability, mild	Alati
IQ between 34 and 49	Väga sageli (80–99%)
Attention deficit	Mõnikord (5–29%)
Autism spectrum disorder	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Bilateral cryptorchidism	Alati
Cleft of scrotum	Alati
Hypospadias	Alati
Penoscrotal hypospadias	Väga sageli (80–99%)
Short penis	Väga sageli (80–99%)
Narrowing of the ureter	Mõnikord (5–29%)
Absent external genitalia	Harva (1–4%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Shortening of all finger bones	Alati
Webbed fingers	Alati
Curvature of little finger	Mõnikord (5–29%)
Amelia involving the lower limbs	Harva (1–4%)
Short fingers or toes	Harva (1–4%)
Upper limb peromelia	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Attached earlobe	Väga sageli (80–99%)
Large earlobe	Väga sageli (80–99%)
Mixed hearing impairment	Sageli (30–79%)
Hearing impairment	Mõnikord (5–29%)
Ears rotated toward back of head	Pole registreeritud
Low-set ears	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the anus	Alati
Anteriorly placed anus	Harva (1–4%)
Bladder exstrophy	Harva (1–4%)
Narrowing of anal opening	Harva (1–4%)
Umbilical hernia	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the vertebral spinous processes	Väga sageli (80–99%)
Funnel chest	Väga sageli (80–99%)
Abnormal cervical spine	Sageli (30–79%)
Cervical C2/C3 vertebral fusion	Sageli (30–79%)
Thoracolumbar kyphoscoliosis	Sageli (30–79%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Wide-spaced nipples	Alati
Absent nipple	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Mole	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga CDH11 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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