Traits

Traits linked to SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

The Human Phenotype Ontology links 84 traits to SAMHD1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Global developmental delay	Visada
Arrhinencephaly	Labai dažnai (80–99%)
Cavity within brain	Labai dažnai (80–99%)
IQ less than 20	Labai dažnai (80–99%)
Leukodystrophy	Labai dažnai (80–99%)
Multifocal cerebral white matter abnormalities	Labai dažnai (80–99%)
Abnormal gait	Dažnai (30–79%)
Abnormality of extrapyramidal motor function	Dažnai (30–79%)
Brain degeneration	Dažnai (30–79%)
Chronic CSF lymphocytosis	Dažnai (30–79%)
CSF lymphocytic pleiocytosis	Dažnai (30–79%)
Dystonia	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Irritability	Dažnai (30–79%)
Loss of developmental milestones	Dažnai (30–79%)
Loss of speech	Dažnai (30–79%)
Paralysis or weakness of one side of body	Dažnai (30–79%)
Underdevelopment of part of brain called corpus callosum	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Abnormal pyramidal sign	Kartais (5–29%)
Demyelinating peripheral neuropathy	Kartais (5–29%)
Headache	Kartais (5–29%)
Tremor	Kartais (5–29%)
Degeneration of the striatum	Retai (1–4 %)
Deep white matter hypodensities	Neužfiksuota
Leukoencephalopathy	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Involuntary muscle stiffness, contraction, or spasm	Labai dažnai (80–99%)
Spasticity and rigidity of muscles	Labai dažnai (80–99%)
Abnormal deposits of calcium in the brain	Dažnai (30–79%)
Basal ganglia calcification	Dažnai (30–79%)
Extrapyramidal muscular rigidity	Dažnai (30–79%)
Intracerebral periventricular calcifications	Dažnai (30–79%)
Low muscle tone in trunk	Dažnai (30–79%)
Arthritis	Kartais (5–29%)
Multiple joint contractures	Kartais (5–29%)
Muscle stiffness	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Spastic paraparesis	Kartais (5–29%)
Spastic tetraplegia	Kartais (5–29%)
Enchondroma	Retai (1–4 %)
Loss of fat tissue in localized area	Retai (1–4 %)
Disease of the joints	Neužfiksuota
Flexed joint that cannot be straightened	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Enlarged liver and spleen	Dažnai (30–79%)
Cutis marmorata	Kartais (5–29%)
Enlarged heart	Kartais (5–29%)
Raynaud phenomenon	Kartais (5–29%)
Bulge in wall of large artery that carries blood away from heart	Retai (1–4 %)
Calcification of the aorta	Retai (1–4 %)
Enlarged and thickened heart muscle	Retai (1–4 %)
Moyamoya phenomenon	Retai (1–4 %)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Abnormality of eye movement	Kartais (5–29%)
Developmental glaucoma	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Glaucoma	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Chilblains	Visada
Increased circulating interferon-gamma concentration	Visada
Autoimmunity	Dažnai (30–79%)
Inflammation of fat tissue	Kartais (5–29%)
Muscle inflammation	Retai (1–4 %)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Papillary dermal edema	Visada
Dry skin	Dažnai (30–79%)
Photosensitive skin	Dažnai (30–79%)
Persistent blue color of hands or feet	Kartais (5–29%)
Scaling skin	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormally small head	Dažnai (30–79%)
Beaked nose	Dažnai (30–79%)
Cleft eyelid	Dažnai (30–79%)
Asymmetry of the posterior head	Kartais (5–29%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
High liver enzymes	Dažnai (30–79%)
Increased CSF interferon alpha	Dažnai (30–79%)
Unexplained fevers	Dažnai (30–79%)
Diabetes mellitus	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Neonatal alloimmune thrombocytopenia	Kartais (5–29%)
Chronic lymphatic leukemia	Retai (1–4 %)
Low platelet count	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Prolonged yellowing of skin in newborn	Kartais (5–29%)
Feeding difficulties in infancy	Neužfiksuota

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Low-set ears	Kartais (5–29%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Underactive thyroid	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Short penis	Kartais (5–29%)

Abnormality of the voice

Trait	Kaip dažnai pasireiškia
Hoarse voice	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	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 SAMHD1 and how often each is seen. Find out more at hpo.jax.org.

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