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	나타나는 빈도
Global developmental delay	항상
Arrhinencephaly	매우 자주 (80–99%)
Cavity within brain	매우 자주 (80–99%)
IQ less than 20	매우 자주 (80–99%)
Leukodystrophy	매우 자주 (80–99%)
Multifocal cerebral white matter abnormalities	매우 자주 (80–99%)
Abnormal gait	자주 (30–79%)
Abnormality of extrapyramidal motor function	자주 (30–79%)
Brain degeneration	자주 (30–79%)
Chronic CSF lymphocytosis	자주 (30–79%)
CSF lymphocytic pleiocytosis	자주 (30–79%)
Dystonia	자주 (30–79%)
Epilepsy	자주 (30–79%)
Irritability	자주 (30–79%)
Loss of developmental milestones	자주 (30–79%)
Loss of speech	자주 (30–79%)
Paralysis or weakness of one side of body	자주 (30–79%)
Underdevelopment of part of brain called corpus callosum	자주 (30–79%)
Ventriculomegaly	자주 (30–79%)
Abnormal pyramidal sign	가끔 (5–29%)
Demyelinating peripheral neuropathy	가끔 (5–29%)
Headache	가끔 (5–29%)
Tremor	가끔 (5–29%)
Degeneration of the striatum	드물게 (1–4%)
Deep white matter hypodensities	기록되지 않음
Leukoencephalopathy	기록되지 않음

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

Trait	나타나는 빈도
Enlarged liver and spleen	자주 (30–79%)
Cutis marmorata	가끔 (5–29%)
Enlarged heart	가끔 (5–29%)
Raynaud phenomenon	가끔 (5–29%)
Bulge in wall of large artery that carries blood away from heart	드물게 (1–4%)
Calcification of the aorta	드물게 (1–4%)
Enlarged and thickened heart muscle	드물게 (1–4%)
Moyamoya phenomenon	드물게 (1–4%)

Trait	나타나는 빈도
Abnormality of eye movement	가끔 (5–29%)
Developmental glaucoma	가끔 (5–29%)
Drooping upper eyelid	가끔 (5–29%)
Glaucoma	가끔 (5–29%)
Involuntary, rapid, rhythmic eye movements	가끔 (5–29%)

Trait	나타나는 빈도
Chilblains	항상
Increased circulating interferon-gamma concentration	항상
Autoimmunity	자주 (30–79%)
Inflammation of fat tissue	가끔 (5–29%)
Muscle inflammation	드물게 (1–4%)

Trait	나타나는 빈도
Papillary dermal edema	항상
Dry skin	자주 (30–79%)
Photosensitive skin	자주 (30–79%)
Persistent blue color of hands or feet	가끔 (5–29%)
Scaling skin	기록되지 않음

Trait	나타나는 빈도
Abnormally small head	자주 (30–79%)
Beaked nose	자주 (30–79%)
Cleft eyelid	자주 (30–79%)
Asymmetry of the posterior head	가끔 (5–29%)

Trait	나타나는 빈도
High liver enzymes	자주 (30–79%)
Increased CSF interferon alpha	자주 (30–79%)
Unexplained fevers	자주 (30–79%)
Diabetes mellitus	가끔 (5–29%)

Trait	나타나는 빈도
Neonatal alloimmune thrombocytopenia	가끔 (5–29%)
Chronic lymphatic leukemia	드물게 (1–4%)
Low platelet count	기록되지 않음

Trait	나타나는 빈도
Prolonged yellowing of skin in newborn	가끔 (5–29%)
Feeding difficulties in infancy	기록되지 않음

Trait	나타나는 빈도
Low-set ears	가끔 (5–29%)

Trait	나타나는 빈도
Underactive thyroid	가끔 (5–29%)

Trait	나타나는 빈도
Short penis	가끔 (5–29%)

Trait	나타나는 빈도
Hoarse voice	가끔 (5–29%)

Trait	나타나는 빈도
Short stature	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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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