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Tunnused
Geeniga SMS seotud tunnused
spermine synthase
Inimese fenotüübi ontoloogia seostab geeniga SMS 91 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Broad head shape | Alati |
| Bulbous nose | Alati |
| Dental crowding | Alati |
| Facial asymmetry | Alati |
| Full lower lip | Alati |
| High, narrow palate | Alati |
| Increased thickness of skull cap | Alati |
| Monobrow | Alati |
| Nasal tip, upturned | Alati |
| Prominent nasal bridge | Alati |
| Smooth philtrum | Alati |
| Sparse eyebrow | Alati |
| Webbed neck | Alati |
| Cleft palate | Sageli (30–79%) |
| Long face | Sageli (30–79%) |
| Narrow face | Sageli (30–79%) |
| Short neck | Sageli (30–79%) |
| Abnormal facial shape | Mõnikord (5–29%) |
| High palate | Mõnikord (5–29%) |
| Narrow mouth | Mõnikord (5–29%) |
| Upward slanting of the opening between the eyelids | Mõnikord (5–29%) |
| Big lower jaw | Harva (1–4%) |
| Drooping lower lip | Harva (1–4%) |
| Short philtrum | Harva (1–4%) |
| Bifid uvula | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Global developmental delay | Alati |
| Intellectual disability | Alati |
| Unsteady walk | Sageli (30–79%) |
| Absent speech development | Mõnikord (5–29%) |
| Delayed speech and language development | Mõnikord (5–29%) |
| EEG abnormality | Mõnikord (5–29%) |
| Focal motor seizure | Mõnikord (5–29%) |
| Generalized myoclonic seizure | Mõnikord (5–29%) |
| Inability to walk | Mõnikord (5–29%) |
| Intellectual disability, mild | Mõnikord (5–29%) |
| Involuntary movements | Mõnikord (5–29%) |
| Jerking | Mõnikord (5–29%) |
| Enlarged brain | Harva (1–4%) |
| IQ less than 20 | Harva (1–4%) |
| Difficulty articulating speech | Pole registreeritud |
| Epilepsy | Pole registreeritud |
| Wide based walk | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Funnel chest | Alati |
| Scoliosis | Alati |
| Thin bony cortex | Alati |
| Kyphoscoliosis | Väga sageli (80–99%) |
| Compression fracture of a vertebral body | Sageli (30–79%) |
| Decreased muscle mass | Sageli (30–79%) |
| Decreased muscle tone in infant | Sageli (30–79%) |
| Hunched back | Sageli (30–79%) |
| Osteoporosis | Sageli (30–79%) |
| Recurrent fractures | Sageli (30–79%) |
| Difficulty in standing | Mõnikord (5–29%) |
| Permanent flexion of the finger or toe | Harva (1–4%) |
| Pigeon chest | Harva (1–4%) |
| Generalized decreased muscle tone | Pole registreeritud |
| Low muscle tone | Pole registreeritud |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Long big toe | Alati |
| Long slender fingers | Sageli (30–79%) |
| Long toe | Sageli (30–79%) |
| Single transverse palmar crease | Sageli (30–79%) |
| Slender toe | Sageli (30–79%) |
| Club feet | Pole registreeritud |
| Finger joint hyperextensibility | Pole registreeritud |
| Long fingers | Pole registreeritud |
| Long palm | Pole registreeritud |
| Narrow palm | Pole registreeritud |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Asymmetric ears | Mõnikord (5–29%) |
| Low-set ears | Mõnikord (5–29%) |
| Cupped ear | Harva (1–4%) |
| Small earlobe | Harva (1–4%) |
| Thickened helices | Harva (1–4%) |
| Abnormally shaped ears | Pole registreeritud |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Drooping upper eyelid | Alati |
| Dropping of one upper eyelid | Mõnikord (5–29%) |
| Wide-set eyes | Mõnikord (5–29%) |
| Bulging eye | Harva (1–4%) |
| Severe near sightedness | Harva (1–4%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hypospadias | Mõnikord (5–29%) |
| Testicular degeneration | Mõnikord (5–29%) |
| Undescended testes | Mõnikord (5–29%) |
| Abnormal kidney location | Harva (1–4%) |
| Abnormality of the Leydig cells | Harva (1–4%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Disproportionate tall stature | Sageli (30–79%) |
| Short stature | Harva (1–4%) |
| Tall stature | Pole registreeritud |
Abnormality of the voice
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hoarse voice | Alati |
| Nasal speech | Sageli (30–79%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide-spaced nipples | Alati |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Patchy hypo- and hyperpigmentation | Mõnikord (5–29%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Brain swelling | Harva (1–4%) |
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 SMS seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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