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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.
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AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the nervous system
| Trait | Cât de frecvent apare |
|---|---|
| Global developmental delay | Întotdeauna |
| Arrhinencephaly | Foarte des (80–99%) |
| Cavity within brain | Foarte des (80–99%) |
| IQ less than 20 | Foarte des (80–99%) |
| Leukodystrophy | Foarte des (80–99%) |
| Multifocal cerebral white matter abnormalities | Foarte des (80–99%) |
| Abnormal gait | Des (30–79%) |
| Abnormality of extrapyramidal motor function | Des (30–79%) |
| Brain degeneration | Des (30–79%) |
| Chronic CSF lymphocytosis | Des (30–79%) |
| CSF lymphocytic pleiocytosis | Des (30–79%) |
| Dystonia | Des (30–79%) |
| Epilepsy | Des (30–79%) |
| Irritability | Des (30–79%) |
| Loss of developmental milestones | Des (30–79%) |
| Loss of speech | Des (30–79%) |
| Paralysis or weakness of one side of body | Des (30–79%) |
| Underdevelopment of part of brain called corpus callosum | Des (30–79%) |
| Ventriculomegaly | Des (30–79%) |
| Abnormal pyramidal sign | Uneori (5–29%) |
| Demyelinating peripheral neuropathy | Uneori (5–29%) |
| Headache | Uneori (5–29%) |
| Tremor | Uneori (5–29%) |
| Degeneration of the striatum | Rar (1–4%) |
| Deep white matter hypodensities | Neînregistrat |
| Leukoencephalopathy | Neînregistrat |
Abnormality of the musculoskeletal system
| Trait | Cât de frecvent apare |
|---|---|
| Involuntary muscle stiffness, contraction, or spasm | Foarte des (80–99%) |
| Spasticity and rigidity of muscles | Foarte des (80–99%) |
| Abnormal deposits of calcium in the brain | Des (30–79%) |
| Basal ganglia calcification | Des (30–79%) |
| Extrapyramidal muscular rigidity | Des (30–79%) |
| Intracerebral periventricular calcifications | Des (30–79%) |
| Low muscle tone in trunk | Des (30–79%) |
| Arthritis | Uneori (5–29%) |
| Multiple joint contractures | Uneori (5–29%) |
| Muscle stiffness | Uneori (5–29%) |
| Scoliosis | Uneori (5–29%) |
| Spastic paraparesis | Uneori (5–29%) |
| Spastic tetraplegia | Uneori (5–29%) |
| Enchondroma | Rar (1–4%) |
| Loss of fat tissue in localized area | Rar (1–4%) |
| Disease of the joints | Neînregistrat |
| Flexed joint that cannot be straightened | Neînregistrat |
Abnormality of the cardiovascular system
| Trait | Cât de frecvent apare |
|---|---|
| Enlarged liver and spleen | Des (30–79%) |
| Cutis marmorata | Uneori (5–29%) |
| Enlarged heart | Uneori (5–29%) |
| Raynaud phenomenon | Uneori (5–29%) |
| Bulge in wall of large artery that carries blood away from heart | Rar (1–4%) |
| Calcification of the aorta | Rar (1–4%) |
| Enlarged and thickened heart muscle | Rar (1–4%) |
| Moyamoya phenomenon | Rar (1–4%) |
Abnormality of the eye
| Trait | Cât de frecvent apare |
|---|---|
| Abnormality of eye movement | Uneori (5–29%) |
| Developmental glaucoma | Uneori (5–29%) |
| Drooping upper eyelid | Uneori (5–29%) |
| Glaucoma | Uneori (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Uneori (5–29%) |
Abnormality of the immune system
| Trait | Cât de frecvent apare |
|---|---|
| Chilblains | Întotdeauna |
| Increased circulating interferon-gamma concentration | Întotdeauna |
| Autoimmunity | Des (30–79%) |
| Inflammation of fat tissue | Uneori (5–29%) |
| Muscle inflammation | Rar (1–4%) |
Abnormality of the integument
| Trait | Cât de frecvent apare |
|---|---|
| Papillary dermal edema | Întotdeauna |
| Dry skin | Des (30–79%) |
| Photosensitive skin | Des (30–79%) |
| Persistent blue color of hands or feet | Uneori (5–29%) |
| Scaling skin | Neînregistrat |
Abnormality of head or neck
| Trait | Cât de frecvent apare |
|---|---|
| Abnormally small head | Des (30–79%) |
| Beaked nose | Des (30–79%) |
| Cleft eyelid | Des (30–79%) |
| Asymmetry of the posterior head | Uneori (5–29%) |
Laboratory abnormality
| Trait | Cât de frecvent apare |
|---|---|
| High liver enzymes | Des (30–79%) |
| Increased CSF interferon alpha | Des (30–79%) |
| Unexplained fevers | Des (30–79%) |
| Diabetes mellitus | Uneori (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | Cât de frecvent apare |
|---|---|
| Neonatal alloimmune thrombocytopenia | Uneori (5–29%) |
| Chronic lymphatic leukemia | Rar (1–4%) |
| Low platelet count | Neînregistrat |
Abnormality of the digestive system
| Trait | Cât de frecvent apare |
|---|---|
| Prolonged yellowing of skin in newborn | Uneori (5–29%) |
| Feeding difficulties in infancy | Neînregistrat |
Abnormality of the ear
| Trait | Cât de frecvent apare |
|---|---|
| Low-set ears | Uneori (5–29%) |
Abnormality of the endocrine system
| Trait | Cât de frecvent apare |
|---|---|
| Underactive thyroid | Uneori (5–29%) |
Abnormality of the genitourinary system
| Trait | Cât de frecvent apare |
|---|---|
| Short penis | Uneori (5–29%) |
Abnormality of the voice
| Trait | Cât de frecvent apare |
|---|---|
| Hoarse voice | Uneori (5–29%) |
Growth abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Short stature | Des (30–79%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- 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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