Traits

Traits linked to SIM1

SIM bHLH transcription factor 1

The Human Phenotype Ontology links 98 traits to SIM1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Abnormal autonomic nervous system physiology	Labai dažnai (80–99%)
Cognitive impairment	Labai dažnai (80–99%)
Delayed speech and language development	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Increased appetite	Labai dažnai (80–99%)
Motor delay	Labai dažnai (80–99%)
Abnormal temper tantrums	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Brain imaging abnormality	Dažnai (30–79%)
Diminished deep tendon reflex	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Memory impairment	Dažnai (30–79%)
Neurodevelopmental delay	Dažnai (30–79%)
Skin-picking	Dažnai (30–79%)
Specific learning disability	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Abnormal rapid eye movement sleep	Kartais (5–29%)
Central sleep apnea	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Impaired temperature sensation	Kartais (5–29%)
Incoordination	Kartais (5–29%)
Lethargy	Kartais (5–29%)
Obstructive sleep apnea	Kartais (5–29%)
Psychosis	Kartais (5–29%)
Wide based walk	Kartais (5–29%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormal facial shape	Labai dažnai (80–99%)
Almond shaped eyes	Dažnai (30–79%)
Big calvaria	Dažnai (30–79%)
Full cheeks	Dažnai (30–79%)
Narrow forehead	Dažnai (30–79%)
Upward slanting of the opening between the eyelids	Dažnai (30–79%)
Broad forehead	Kartais (5–29%)
Bulbous nose	Kartais (5–29%)
Decreased salivary flow	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Downturned corners of mouth	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Narrow nasal bridge	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Receding chin	Kartais (5–29%)
Thick eyebrow	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Decreased activity of gonads	Labai dažnai (80–99%)
Absence of pubertal development	Dažnai (30–79%)
Hypogonadotropic hypogonadism	Dažnai (30–79%)
Hypothalamic luteinizing hormone-releasing hormone deficiency	Dažnai (30–79%)
Small pituitary gland	Dažnai (30–79%)
Central hypothyroidism	Kartais (5–29%)
Early onset of puberty	Kartais (5–29%)
Premature adrenarche	Kartais (5–29%)
Premature pubic hair growth	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Infertility	Labai dažnai (80–99%)
Undescended testes	Labai dažnai (80–99%)
Decreased testicular size	Dažnai (30–79%)
Primary amenorrhea	Dažnai (30–79%)
Small clitoris	Dažnai (30–79%)
Smaller than typical growth of scrotum	Dažnai (30–79%)
Underdeveloped inner lips	Dažnai (30–79%)
Underdevelopment of external reproductive organs	Dažnai (30–79%)
Short penis	Kartais (5–29%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Decreased muscle tone in infant	Labai dažnai (80–99%)
Low muscle tone, in neonatal onset	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Abnormality of the chest	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Osteoporosis	Kartais (5–29%)
Low muscle tone	Neužfiksuota

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Hyperinsulinemia	Labai dažnai (80–99%)
Vitamin B1 deficiency	Labai dažnai (80–99%)
Glucose intolerance	Kartais (5–29%)
Noninsulin-dependent diabetes	Kartais (5–29%)
Increased resting energy expenditure	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Short foot	Dažnai (30–79%)
Small hand	Dažnai (30–79%)
Long foot	Kartais (5–29%)
Tapered finger	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Obesity	Labai dažnai (80–99%)
Abdominal obesity	Dažnai (30–79%)
Faltering weight	Dažnai (30–79%)
Short stature	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Nasogastric tube feeding	Dažnai (30–79%)
Poor suck	Dažnai (30–79%)
Feeding difficulties	Neužfiksuota

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Abnormal ear morphology	Kartais (5–29%)
Low-set ears	Kartais (5–29%)
Small ears	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Cross-eyed	Dažnai (30–79%)
Abnormality of the eye	Kartais (5–29%)
Chorioretinal hypopigmentation	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Low blood pressure	Labai dažnai (80–99%)
Postural hypotension with compensatory tachycardia	Labai dažnai (80–99%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Loss of hair color	Kartais (5–29%)
Patchy lightened skin	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Recurrent respiratory infections	Kartais (5–29%)

Abnormality of the voice

Trait	Kaip dažnai pasireiškia
Weak cry	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SIM1 and how often each is seen. Find out more at hpo.jax.org.

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