Phenotypes associated with the disease brain-lung-thyroid syndrome (OMIM:610978):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: IEA. (OMIM:610978)
- Crackles (HP:0030830): Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position. Evidence: PCS. (PMID:28732825)
- Oxygen desaturation on exertion (HP:0030874): Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. Evidence: PCS. Frequency: 5/6. (PMID:28732825)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: TAS. (OMIM:610978)
- Hypotonia (HP:0001252): 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. Evidence: PCS. Frequency: 1/1. (PMID:9565498)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:610978)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: PCS. Frequency: 1/1. (PMID:9565498)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:610978)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:610978)
- Atelectasis (HP:0100750): Collapse of part of a lung associated with absence of inflation (air) of that part. Evidence: PCS. Frequency: 2/13. (PMID:28732825)
- Elevated bronchoalveolar lavage fluid lymphocyte proportion (HP:0032976): Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases. Evidence: PCS. Frequency: 1/6. (PMID:28732825)
- Elevated bronchoalveolar lavage fluid neutrophil proportion (HP:0032977): Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases. Evidence: PCS. Frequency: 3/6. (PMID:28732825)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. (PMID:24714694)
- Gonadotropin deficiency (HP:0008213): A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). Evidence: PCS. Frequency: 1/2. (PMID:30927038)
- Congenital hypothyroidism (HP:0000851): A type of hypothyroidism with congenital onset. Evidence: IEA. (OMIM:610978)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:9565498)
- Pulmonary infiltrates (HP:0002113). Evidence: PCS. Frequency: 7/13. (PMID:28732825)
- Broad-based gait (HP:0002136): An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. Evidence: PCS. Frequency: 2/2. (PMID:15289765)
- Choreoathetosis (HP:0001266): Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). Evidence: PCS. Frequency: 2/2. (PMID:15289765)
- Cystic pattern on pulmonary HRCT (HP:0025394): On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. Evidence: PCS. Frequency: 1/13. (PMID:28732825)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. (OMIM:610978)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Onset: Neonatal onset (HP:0003623). (OMIM:610978)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:610978)
- 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: PCS. Frequency: 2/2. (PMID:15289765)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 3/3. (PMID:9565498;PMID:15289765)
- Ground-glass opacification (HP:0025179): On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. Evidence: PCS. Frequency: 5/13. (PMID:28732825)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: PCS. (PMID:28732825)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: PCS. (PMID:28732825)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: PCS. Frequency: 6/7. (PMID:28732825)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: PCS. Frequency: 2/5. (PMID:28732825)
- Parenchymal consolidation (HP:0032177): Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia). Evidence: PCS. Frequency: 4/6. (PMID:30927038)
- Cholesteatoma (HP:0009797): Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. Evidence: PCS. Frequency: 2/16. (PMID:28732825)
- Compensated hypothyroidism (HP:0008223): Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4). Evidence: TAS. (OMIM:610978)
- Elevated circulating thyroid-stimulating hormone concentration (HP:0002925): Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. Evidence: PCS. Frequency: 3/3. (PMID:9565498;PMID:15289765)
- Decreased response to growth hormone stimulation test (HP:0000824): Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. Evidence: PCS. Frequency: 1/2. (PMID:30927038)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/1. (PMID:9565498)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. (PMID:24714694)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: PCS. Frequency: 1/16. (PMID:28732825)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: PCS. Frequency: 10/16. (PMID:28732825)
- Autosomal dominant inheritance (HP:0000006): 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. Evidence: PCS. (PMID:15289765)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 3/3. Onset: Neonatal onset (HP:0003623). (PMID:9565498;PMID:15289765)