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	Hvor ofte den forekommer
Global developmental delay	Alltid
Arrhinencephaly	Svært ofte (80–99 %)
Cavity within brain	Svært ofte (80–99 %)
IQ less than 20	Svært ofte (80–99 %)
Leukodystrophy	Svært ofte (80–99 %)
Multifocal cerebral white matter abnormalities	Svært ofte (80–99 %)
Abnormal gait	Ofte (30–79 %)
Abnormality of extrapyramidal motor function	Ofte (30–79 %)
Brain degeneration	Ofte (30–79 %)
Chronic CSF lymphocytosis	Ofte (30–79 %)
CSF lymphocytic pleiocytosis	Ofte (30–79 %)
Dystonia	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Irritability	Ofte (30–79 %)
Loss of developmental milestones	Ofte (30–79 %)
Loss of speech	Ofte (30–79 %)
Paralysis or weakness of one side of body	Ofte (30–79 %)
Underdevelopment of part of brain called corpus callosum	Ofte (30–79 %)
Ventriculomegaly	Ofte (30–79 %)
Abnormal pyramidal sign	Noen ganger (5–29 %)
Demyelinating peripheral neuropathy	Noen ganger (5–29 %)
Headache	Noen ganger (5–29 %)
Tremor	Noen ganger (5–29 %)
Degeneration of the striatum	Sjelden (1–4%)
Deep white matter hypodensities	Ikke registrert
Leukoencephalopathy	Ikke registrert

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Involuntary muscle stiffness, contraction, or spasm	Svært ofte (80–99 %)
Spasticity and rigidity of muscles	Svært ofte (80–99 %)
Abnormal deposits of calcium in the brain	Ofte (30–79 %)
Basal ganglia calcification	Ofte (30–79 %)
Extrapyramidal muscular rigidity	Ofte (30–79 %)
Intracerebral periventricular calcifications	Ofte (30–79 %)
Low muscle tone in trunk	Ofte (30–79 %)
Arthritis	Noen ganger (5–29 %)
Multiple joint contractures	Noen ganger (5–29 %)
Muscle stiffness	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Spastic paraparesis	Noen ganger (5–29 %)
Spastic tetraplegia	Noen ganger (5–29 %)
Enchondroma	Sjelden (1–4%)
Loss of fat tissue in localized area	Sjelden (1–4%)
Disease of the joints	Ikke registrert
Flexed joint that cannot be straightened	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Enlarged liver and spleen	Ofte (30–79 %)
Cutis marmorata	Noen ganger (5–29 %)
Enlarged heart	Noen ganger (5–29 %)
Raynaud phenomenon	Noen ganger (5–29 %)
Bulge in wall of large artery that carries blood away from heart	Sjelden (1–4%)
Calcification of the aorta	Sjelden (1–4%)
Enlarged and thickened heart muscle	Sjelden (1–4%)
Moyamoya phenomenon	Sjelden (1–4%)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormality of eye movement	Noen ganger (5–29 %)
Developmental glaucoma	Noen ganger (5–29 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Glaucoma	Noen ganger (5–29 %)
Involuntary, rapid, rhythmic eye movements	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Chilblains	Alltid
Increased circulating interferon-gamma concentration	Alltid
Autoimmunity	Ofte (30–79 %)
Inflammation of fat tissue	Noen ganger (5–29 %)
Muscle inflammation	Sjelden (1–4%)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Papillary dermal edema	Alltid
Dry skin	Ofte (30–79 %)
Photosensitive skin	Ofte (30–79 %)
Persistent blue color of hands or feet	Noen ganger (5–29 %)
Scaling skin	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormally small head	Ofte (30–79 %)
Beaked nose	Ofte (30–79 %)
Cleft eyelid	Ofte (30–79 %)
Asymmetry of the posterior head	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
High liver enzymes	Ofte (30–79 %)
Increased CSF interferon alpha	Ofte (30–79 %)
Unexplained fevers	Ofte (30–79 %)
Diabetes mellitus	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Neonatal alloimmune thrombocytopenia	Noen ganger (5–29 %)
Chronic lymphatic leukemia	Sjelden (1–4%)
Low platelet count	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Prolonged yellowing of skin in newborn	Noen ganger (5–29 %)
Feeding difficulties in infancy	Ikke registrert

Abnormality of the ear

Trait	Hvor ofte den forekommer
Low-set ears	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Underactive thyroid	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Short penis	Noen ganger (5–29 %)

Abnormality of the voice

Trait	Hvor ofte den forekommer
Hoarse voice	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Short stature	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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