Tunnused

Geeniga RIPK4 seotud tunnused

receptor interacting serine/threonine kinase 4

Inimese fenotüübi ontoloogia seostab geeniga RIPK4 100 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

RIPK4

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Absent eyelids	Alati
Cleft of the face	Alati
Expressionless face	Alati
Little lower jaw	Alati
Oral synechia	Alati
Short nose	Alati
Sparse scalp hair	Alati
Underdeveloped tissue around nostril	Alati
Upward slanting of the opening between the eyelids	Alati
Abnormally small head	Väga sageli (80–99%)
Adhesion of eyelids	Väga sageli (80–99%)
Central cleft upper lip	Väga sageli (80–99%)
Cleft palate	Väga sageli (80–99%)
Sparse or absent eyebrows	Väga sageli (80–99%)
Sparse or absent eyelashes	Väga sageli (80–99%)
Abnormal oral frenulum morphology	Sageli (30–79%)
Absence of adult teeth	Sageli (30–79%)
Absence of upper front tooth	Sageli (30–79%)
Cleft eyelid	Sageli (30–79%)
Cleft lower eyelid	Sageli (30–79%)
Cleft tongue	Sageli (30–79%)
Cleft upper lip	Sageli (30–79%)
Depressed nasal bridge	Sageli (30–79%)
Everted eyelid	Sageli (30–79%)
Lip pits at corners of the mouth	Sageli (30–79%)
Narrow mouth	Sageli (30–79%)
Narrow opening between the eyelids	Sageli (30–79%)
Short neck	Sageli (30–79%)
Decreased size of maxilla	Mõnikord (5–29%)
Eyelids stay open due to scarring	Mõnikord (5–29%)
Absent eyebrow	Pole registreeritud
Absent eyelashes	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Absent palm lines	Alati
Absent thumb	Alati
Club feet	Alati
Limb undergrowth	Alati
Oligodactyly	Alati
Short thumb	Alati
Shortened long bone of hand	Alati
Webbed fingers or toes	Alati
Absent/small outermost bones of toe	Väga sageli (80–99%)
Finger syndactyly	Väga sageli (80–99%)
Fused toes	Väga sageli (80–99%)
Talipes	Väga sageli (80–99%)
Curving of inner forearm bone	Sageli (30–79%)
Missing outer large bone of forearm	Sageli (30–79%)
Short 5th long bone of foot	Mõnikord (5–29%)
Short finger bones	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Alopecia totalis	Alati
Hair loss	Alati
Popliteal pterygium	Alati
Pterygium	Alati
Skin tags	Alati
Small nail	Alati
Atypical nail growth	Väga sageli (80–99%)
Curly hair	Väga sageli (80–99%)
Underdeveloped toenails	Väga sageli (80–99%)
Axillary pterygium	Sageli (30–79%)
Decreased ability to sweat	Sageli (30–79%)
Dry skin	Sageli (30–79%)
Absent nails	Pole registreeritud
Skin erosion	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Absent external genitalia	Alati
Heart shaped uterus	Alati
Short penis	Alati
Small labia majora	Alati
Small male external genitalia	Alati
Ambiguous external genitalia	Väga sageli (80–99%)
Abnormal kidney location	Sageli (30–79%)
Hydroureter	Sageli (30–79%)
Imperforate hymen	Sageli (30–79%)
Absent/small kidney	Mõnikord (5–29%)
Bilateral cryptorchidism	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Absent anus	Alati
Inferiorly positioned umbilicus	Alati
Omphalocele	Alati
Inguinal hernia	Sageli (30–79%)
Narrowing of anal opening	Sageli (30–79%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Corneal ulceration	Alati
Opacification of the corneal stroma	Alati
Wide-set eyes	Alati
Corneal opacity	Sageli (30–79%)
Abnormally small eyeball	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Arthrogryposis multiplex congenita	Alati
Flexed joint that cannot be straightened	Alati
Fusion of joints	Väga sageli (80–99%)
Hypoplastic iliac wing	Sageli (30–79%)
Small shoulder blade	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Small ears	Alati
Low-set ears	Sageli (30–79%)
Cupped ear	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Ataxia	Sageli (30–79%)
Intellectual disability	Sageli (30–79%)
Motor delay	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Patent foramen ovale	Sageli (30–79%)
Abnormal cardiovascular system morphology	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Less than 10 fetal movements in 12 hours	Alati

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Wide-spaced nipples	Sageli (30–79%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Partial or complete collapse of part or entire lung	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Prenatal growth deficiency	Pole registreeritud

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 RIPK4 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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