TaoMedAI/RareMedData huggingface dataset:
Thymic carcinoma (ORPHA:99868)
Thymic carcinoma (TC) is a type of thymic epithelial neoplasm (see this term) characterized by a high malignant potential.
Epidemiology
The exact prevalence or incidence is unknown. It represents 1% of the anterior mediastinal tumors and occurs in all ages but more frequently between the ages of 30 and 60 years. The male to female ratio is 1.5:1.
Clinical description
Patients can be asymptomatic but more often present with chest-related symptoms (cough, chest pain), phrenic nerve palsy, or superior vena cava syndrome. Contrary to patients with thymoma (see this term), myasthenia gravis or paraneoplastic syndromes are rarely observed.
Etiology
Etiology is unknown.
Diagnostic methods
Diagnosis is based on clinical findings and on radiological studies. Chest X-rays reveals a mediastinal mass. Computed tomography, magnetic resonance imaging (MRI), magnetic resonance angiography (angio-MRI) and/or positron emission tomography (PET) further evaluate the lesion. Tissue biopsy, usually performed by CT- or ultrasound-guided percutaneous needle-biopsy, is used to confirm a diagnosis of malignancy. Complete excision is required for definitive histologic typing. TC is composed of atypical cells of an invasive nature and lacks immature (or cortical) T cells. Several histologic subtypes are observed: the most common are squamous cell carcinoma, mucoepidermoid carcinoma and lymphoepithelioma-like carcinoma while rarer variants include clear cell carcinoma, basaloid carcinoma, spindle cell carcinoma, and anaplastic carcinoma. Extremely rare variants include papillary carcinoma, adenocarcinoma, and rhabdoid carcinoma. The diagnosis of thymic carcinoma is one of exclusion, as there are no morphologic, immunohistochemical, ultrastructural or cytogenetic/molecular features that are pathognomonic for this tumor. Histologically, the tumors may resemble carcinomas commonly arising in other organs. For this reason, the diagnosis can only be established by exclusion through careful demonstration on clinical history, clinical examination, and radiographic and endoscopic examination of the absence of a primary tumor elsewhere.
Differential diagnosis
Differential diagnoses include lymphoma, germ-cell tumors (see these terms), and other primary thymic malignancies and metastatic cancers.
Management and treatment
Treatment consists in total thymectomy and complete tumor excision usually accompanied by neoadjuvant or adjuvant therapy consisting of radiotherapy, chemotherapy, or both. In case of metastatic TC, platinum-based chemotherapy is the first-line treatment.
Prognosis
Prognosis is poor due to the high frequency of recurrences and metastases in the pleura, lung, lymph nodes, bone, brain, and liver. The survival rate at 5 years is 35%.

                            Last update: 
                            March 2011


                            - Expert reviewer(s): 
                            Dr Saul SUSTER
Thymic epithelial neoplasm (ORPHA:3398)
Thymic epithelial neoplasms (TEN) are rare malignancies arising from the epithelium of the thymic gland. They comprise three sub-types: thymoma, thymic carcinoma, and thymic neuroendocrine carcinoma (see these terms).
Epidemiology
TENs have an annual incidence of approximately 1/588,000. Thymoma is the most frequent subtype, while thymic carcinoma and thymic neuroendocrine carcinoma represent 1% and 2-4% of the anterior mediastinal tumors, respectively. The two latter have a higher malignant potential than thymoma. TENs usually occur in adults from 30 to 80 years of age, with a median age of 60 years, but they can also occur during childhood.
Clinical description
Most adult patients are asymptomatic, while in children nearly two thirds present with symptoms that include cough, chest pain, weight loss, fatigue and dyspnea. Many autoimmune syndromes are associated with TENs. Myasthenia gravis (see this term) is observed in 30-50% of thymoma cases. Phrenic nerve palsy and superior vena cava syndrome are usually observed in cases of thymic carcinoma.
Etiology
Etiology is unknown.

                            Last update: 
                            March 2011


                            - Expert reviewer(s): 
                            Dr Saul SUSTER
Thymic neuroendocrine carcinoma (ORPHA:99869)
Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm (see this term) displaying evidence of neuroendocrine differentiation.
Epidemiology
The exact prevalence or incidence is unknown. Thymic neuroendocrine carcinomas represent 2-4% of the anterior mediastinal tumors. More than 300 cases have been reported to date. Men are predominantly affected.
Clinical description
Many of the patients are asymptomatic but some present with chest-related symptoms such as cough, chest pain, weight loss, fatigue and dyspnea. Cushing's syndrome, multiple endocrine neoplasia, and, rarely, carcinoid syndrome (see these terms) are associated with this type of tumor.
Etiology
Etiology is unknown.
Diagnostic methods
Diagnosis is based on clinical findings, radiological studies (chest X-rays, computed tomography, magnetic resonance imaging (MRI), angiography (angio-MRI) and/or positron emission tomography (PET)), and on tissue biopsy, usually performed by CT- or ultrasound-guided percutaneous needle-biopsy. Three histological subtypes are observed: well-differentiated neuroendocrine carcinoma (formerly known as ''thymic carcinoid''), moderately-differentiated neuroendocrine carcinoma (formerly known as ''atypical carcinoid''), and poorly-differentiated neuroendocrine carcinoma (also known as small cell carcinoma of the thymus).
Differential diagnosis
Differential diagnosis includes lymphoma, germ-cell tumors (see these terms), and other primary thymic malignancies and metastatic cancers.
Management and treatment
Treatment consists of total thymectomy and complete tumor excision usually accompanied by post-operative radiotherapy and chemotherapy.
Prognosis
Thymic neuroendocrine carcinomas are aggressive tumors with a poor prognosis. Prognosis is dependent on the histological subtype with well-differentiated neuroendocrine carcinoma being the least aggressive subtype and poorly-differentiated neuroendocrine carcinoma being the most aggressive subtype with a median survival of 18 months. Recurrences and metastases are frequently observed. The 10-year survival is between 10% and 28% and depends on the treatment.

                            Last update: 
                            March 2011


                            - Expert reviewer(s): 
                            Dr Saul SUSTER
Thymic neuroendocrine tumor (ORPHA:97289)
A rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively.
Thymic-renal-anal-lung dysplasia (ORPHA:3326)
This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.
Epidemiology
It has been described in three girls born to a nonconsanguineous couple.
Genetic counseling
The mode of transmission is unknown but autosomal recessive inheritance was suggested.

                            Last update: 
                            September 2007
Thyrocerebrorenal syndrome (ORPHA:3327)
A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.
Thyroid ectopia (ORPHA:95712)
Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Epidemiology
Prevalence is estimated at about 1/7,000. Thyroid ectopia causes around two-thirds of thyroid dysgenesis and is twice as common in females as in males.
Clinical description
Clinical manifestations of thyroid ectopia are often subtle or not present at birth, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goiter is always absent. More specific symptoms and signs do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Slow linear growth and developmental delay are usually apparent by 4-6 months of age.
Etiology
Thyroid ectopia refers to an ectopic location of the thyroid gland. This occurs when a thyroid remnant is found along the normal pathway of the thyroglossal duct, which is the path of the developing thyroid as it descends from the base of the tongue to its final location in the neck. Ectopic thyroid tissue has been found inferior and superior to the hyoid bone and above the thyroid cartilage. No specific mutations have been identified in humans, although mutations in FOXE1 (TTF-2; 9q22) are associated with ectopic thyroid glands in mice.
Diagnostic methods
Imaging studies are required to confirm the diagnosis of ectopia.
Genetic counseling
Thyroid ectopia is generally thought to be sporadic. However, recent evidence points to the possibility of a genetic component. Around 2% of cases have been shown to be familial.
Prognosis
Without treatment thyroid ectopia results in severe intellectual deficit and short stature.

                            Last update: 
                            August 2010


                            - Expert reviewer(s): 
                            Dr Stephen LAFRANCHI  - Dr Maynika RASTOGI
Thyroid hemiagenesis (ORPHA:95719)
Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Epidemiology
Thyroid hemiagenesis is estimated to occur in 1/500-1/2,000 individuals.
Clinical description
In symptomatic cases, clinical features and signs may include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Slow linear growth and developmental delay may also occur.
Etiology
Thyroid hemiagenesis has been reported in mice with compound heterozygous FOXE1/NKX2-1 and PAX8 gene (14q13 and 2q12-q14) mutations.
Genetic counseling
Some familial cases have been reported, suggesting genetic factors but to date none have been identified in humans.

                            Last update: 
                            August 2010


                            - Expert reviewer(s): 
                            Dr Stephen LAFRANCHI  - Dr Maynika RASTOGI
Thyroid hypoplasia (ORPHA:95720)
Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Epidemiology
Prevalence is estimated at around 1/28,000. Thyroid hypoplasia and athyreosis (see this term) combined account for one-third of cases of thyroid dysgenesis.
Clinical description
Clinical manifestations of thyroid hypoplasia are often subtle or not present at birth, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment thyroid hypoplasia results in severe intellectual deficit and short stature.
Etiology
Familial cases of thyroid hypoplasia are caused by mutations in the FOXE1,  NKX2-1, NKX2-5 or PAX8 genes (9q22, 14q13, 5q34 and 2q12-q14). Mutations that result in partial inactivation of the TSHR gene (14q31) can present with thyroid hypoplasia.
Diagnostic methods
Imaging studies are required to confirm the diagnosis.
Genetic counseling
Thyroid hypoplasia is generally thought to be sporadic. However, recent evidence points to the possibility of a genetic component. Around 2% of cases have been shown to be familial.

                            Last update: 
                            August 2010


                            - Expert reviewer(s): 
                            Dr Stephen LAFRANCHI  - Dr Maynika RASTOGI
Thyroid lymphoma (ORPHA:97285)
A rare primary organ-specific lymphoma characterized by primary origin in the thyroid gland, sometimes involving cervical lymph nodes, and infrequently more distant sites. Diffuse large B-cell lymphoma is most common, followed by MALT lymphoma, and follicular lymphoma. More rare types include T-cell lymphomas, Burkitt lymphoma, or classic Hodgkin lymphoma. The condition is usually associated with Hashimoto thyroiditis. Patients typically present with a mass in the thyroid, with or without cervical lymphadenopathy. Hoarseness and dyspnea may occur, while constitutional symptoms are rare. Prognosis is favorable for patients with localized tumors.
Tibial aplasia-ectrodactyly syndrome (ORPHA:3329)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.
Epidemiology
The incidence is estimated to be approximately 1 in 1,000,000 live births.
Clinical description
The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears.
Etiology
Two susceptibility loci at 1q42.2-q43 and 6q14.1 have been identified, leading to the hypothesis that this syndrome fits the model of digenic inheritance.
Differential diagnosis
Overlap with the Gollop-Wolfgang syndrome (see this term) has been described.
Genetic counseling
The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. Autosomal recessive inheritance has also been proposed in some families.

                            Last update: 
                            May 2008
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (ORPHA:988)
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.
Tibial muscular dystrophy (ORPHA:609)
Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.
Epidemiology
TMD is highly prevalent in Finland (1/5,000) due to a founder mutation, making it the most common muscle disease in Finland. The disease has also rarely been identified in families in several other European countries.
Clinical description
TMD manifests after the age of 35 to 40 (rarely after the age of 60) as slowly progressive weakness and atrophy of the anterior tibial muscles with decreased dorsiflexion. Muscle involvement may remain asymmetrical for many years. After about 10 to 20 years, long toe extensors become involved causing foot drop, tripping and clumsiness while walking. Proximal limb muscles, mainly hamstring muscles, may be involved after the age of 60 to 70 and may necessitate the use of a cane and reduced walking distances. Extensor digitorum brevis muscles are spared and involvement of upper limbs is very rare. Neither cardiomyopathy nor respiratory failure has been encountered. TMD may present in a mild form (may remain unnoticed even in elderly individuals) or as aberrant phenotypic forms in about 9% of cases (proximal leg or posterior lower leg muscle involvement even at onset).
Etiology
TMD is linked to mutations in the TTN gene (2q31) encoding the protein Titin. The Finnish founder mutation (FINmaj) is located in the last exon 363(Mex6). Atypical presentations in Finnish patients have recently been explained by modifying second mutations in TTN. Seven other mutations of the TTN gene causing TMD have been identified in non-Finnish populations of which some C-terminal titin mutations can be recessive, manifesting the disease in homozygosity or in compound heterozygosity (usually with recessive truncating titin mutations). FINmaj mutation in homozygosity or in combination with truncating recessive titin mutations causes early onset autosomal recessive limb girdle muscular dystrophy (LGMD2J, see this term).
Genetic counseling
Mode of inheritance of typical TMD is autosomal dominant, with a 50% risk of transmission to offspring, while some forms of TMD may be autosomal recessive.

                            Last update: 
                            March 2014


                            - Expert reviewer(s): 
                            Dr Johanna PALMIO  - Pr Bjarne UDD
Tietz syndrome (ORPHA:42665)
Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.
Epidemiology
Tietz syndrome has been reported in 7 families to date.
Clinical description
Affected cases have a pale skin, blue eyes and light blond to white hair with white eyebrows and eyelashes. They gradually gain some pigmentation often as freckles on sun-exposed areas. Hearing loss is always bilateral, congenital, sensorineural and profound. Psychomotor development is normal.
Etiology
The syndrome is due to a missense mutation or in-frame deletion of one amino acid in the basic domain of the MITF (3p14-p13) gene, coding a basic helix-loop-helix (bHLH) leucine zipper transcription factor, regulating melanocyte development and the biosynthetic melanin pathway. However, these types of mutations give rise to variable phenotype, ranging from Tietz syndrome to Waardenburg syndrome type 2 (see this term), with possible interactions with modifier loci.
Genetic counseling
Tietz syndrome is an autosomal dominant syndrome. Genetic counseling is recommended.

                            Last update: 
                            November 2015


                            - Expert reviewer(s): 
                            Dr Véronique PINGAULT
Titin-related limb-girdle muscular dystrophy R10 (ORPHA:140922)
A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.
TMEM165-CDG (ORPHA:314667)
TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).
TMEM199-CDG (ORPHA:466703)
A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome (ORPHA:562569)
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.
TNP03-related limb-girdle muscular dystrophy D2 (ORPHA:55595)
A rare subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.
Tolosa-Hunt syndrome (ORPHA:64686)
Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.
Toluene embryopathy (ORPHA:1920)
A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.
TOR1AIP1-related limb-girdle muscular dystrophy (ORPHA:424261)
A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.