Phenotypes associated with the disease CACH syndrome (ORPHA:135):
- Dysmyelinating leukodystrophy (HP:0006978). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:135)
- Brain imaging abnormality (HP:0410263): An anomaly of metabolism or structure of the brain identified by imaging. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:135)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Limb ataxia (HP:0002070): A kind of ataxia that affects movements of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Truncal ataxia (HP:0002078): Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Progressive neurologic deterioration (HP:0002344). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Cerebellar vermis atrophy (HP:0006855): Wasting (atrophy) of the vermis of cerebellum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Atrophy/Degeneration affecting the brainstem (HP:0007366). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:135)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Gonadal dysgenesis (HP:0000133): Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Apathy (HP:0000741): Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Primary amenorrhea (HP:0000786). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Secondary amenorrhea (HP:0000869). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Spastic diplegia (HP:0001264): Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Encephalopathy (HP:0001298): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Dysmetria (HP:0001310): A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Lateral ventricle dilatation (HP:0006956). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Abnormal pons morphology (HP:0007361): A structural abnormality of the pons. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Nonketotic hyperglycinemia (HP:0008288). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Floppy infant (HP:0008947): Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Mild global developmental delay (HP:0011342): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- T2 hypointense thalamus (HP:0012690): A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Widened subarachnoid space (HP:0012704): An increase in size of the anatomic space between the arachnoid membrane and pia mater. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Dysgyria (HP:0032398): An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Globus pallidus hypointensity on susceptibility-weighted imaging (HP:0033049): Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Optic neuritis (HP:0100653): Inflammation of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:135)
- Progressive macrocephaly (HP:0004481): The progressive development of an abnormally large skull. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:135)