Gene: KANK1
Cytoband position: 9p24.3
OMIM: 607704
RVIS score: -0.92
RVIS percentage: 9.78
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Cerebral atrophy | HP:0002059 | HP:0006890 | Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Abnormal cerebral ventricle morphology | HP:0002118 | None | Any structural abnormality of the cerebral ventricles. |
| Ventriculomegaly | HP:0002119 | HP:0007071 | An increase in size of the ventricular system of the brain. |
| Abnormality of forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Upper motor neuron dysfunction | HP:0002493 | None | A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. |
| Spastic tetraplegia | HP:0002510 | HP:0001280 | Spastic paralysis affecting all four limbs. |
| Aplasia/Hypoplasia involving the central nervous system | HP:0002977 | HP:0001323 | Absence or underdevelopment of tissue in the central nervous system. |
| Abnormality of the musculature | HP:0003011 | HP:0040290 | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Congenital onset | HP:0003577 | HP:0003666 | A phenotypic abnormality that is present at birth. |
| Onset | HP:0003674 | HP:0011007 | The age group in which disease manifestations appear. |
| Atrophy/Degeneration affecting the central nervous system | HP:0007367 | None | None |
| Atrophy/Degeneration affecting the cerebrum | HP:0007369 | None | The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Abnormality of higher mental function | HP:0011446 | None | Cognitive, psychiatric or memory anomaly. |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Autosomal dominant inheritance with maternal imprinting | HP:0012275 | None | A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Neurodevelopmental abnormality | HP:0012759 | None | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| Clinical course | HP:0031797 | None | The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. |
| Abnormality of brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Brain atrophy | HP:0012444 | None | Partial or complete wasting (loss) of brain tissue that was once present. |
| Abnormal involuntary eye movements | HP:0012547 | None | Anomalous movements of the eyes that occur without the subject wanting them to happen. |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Abnormal nervous system morphology | HP:0012639 | None | A structural anomaly of the nervous system. |
| Autosomal dominant inheritance | HP:0000006 | HP:0001463 | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| Abnormality of the musculoskeletal system | HP:0033127 | None | An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Abnormality of eye movement | HP:0000496 | HP:0006860 | An abnormality in voluntary or involuntary eye movements or their control. |
| Nystagmus | HP:0000639 | None | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| Abnormality of the nervous system | HP:0000707 | HP:0006987 | An abnormality of the nervous system. |
| Intellectual disability | HP:0001249 | HP:0007180 | Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. |
| Spasticity | HP:0001257 | None | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. |
| Hypertonia | HP:0001276 | HP:0002388 | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| Cerebral palsy | HP:0100021 | None | Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. |
| Abnormality of movement | HP:0100022 | HP:0001294 | An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. |
| Morphological central nervous system abnormality | HP:0002011 | HP:0007319 | A structural abnormality of the central nervous system. |
| Abnormal muscle tone | HP:0003808 | None | None |
| Hypotonia | HP:0001252 | HP:0011398 | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |