From HPO
Chest pain- MedGen UID:
- 2992
- •Concept ID:
- C0008031
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Pheochromocytoma- MedGen UID:
- 18419
- •Concept ID:
- C0031511
- •
- Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Medullary thyroid carcinoma- MedGen UID:
- 66772
- •Concept ID:
- C0238462
- •
- Neoplastic Process
The presence of a medullary carcinoma of the thyroid gland.
Parathyroid gland adenoma- MedGen UID:
- 75502
- •Concept ID:
- C0262587
- •
- Neoplastic Process
A benign tumor of the parathyroid gland that can cause hyperparathyroidism.
Elevated urinary epinephrine level- MedGen UID:
- 358197
- •Concept ID:
- C1868393
- •
- Finding
The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal.
Elevated urinary vanillylmandelic acid- MedGen UID:
- 866485
- •Concept ID:
- C4020735
- •
- Finding
An increased concentration of vanillylmandelic acid in the urine.
Elevated urinary dopamine level- MedGen UID:
- 868696
- •Concept ID:
- C4023099
- •
- Finding
The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal.
Elevated urinary norepinephrine level- MedGen UID:
- 1841548
- •Concept ID:
- C5826344
- •
- Finding
The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Palpitations- MedGen UID:
- 14579
- •Concept ID:
- C0030252
- •
- Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Headache- MedGen UID:
- 9149
- •Concept ID:
- C0018681
- •
- Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Aganglionic megacolon- MedGen UID:
- 5559
- •Concept ID:
- C0019569
- •
- Disease or Syndrome
The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur.
Genetic Heterogeneity of Hirschsprung Disease
Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the GDNF gene (600837) on 5p13; HSCR4 (613712) is associated with variation in the EDN3 gene (131242) on 20q13; HSCR5 (600156) maps to 9q31; HSCR6 (606874) maps to 3p21; HSCR7 (606875) maps to 19q12; HSCR8 (608462) maps to 16q23; and HSCR9 (611644) maps to 4q31-q32.
HSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome (277580), Mowat-Wilson syndrome (235730), Goldberg-Shprintzen syndrome (609460), and congenital central hypoventilation syndrome (CCHS; 209880).
Whereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by Amiel et al., 2008).
Elevated circulating calcitonin concentration- MedGen UID:
- 401432
- •Concept ID:
- C1868394
- •
- Finding
Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal.
Cutaneous lichen amyloidosis- MedGen UID:
- 812175
- •Concept ID:
- C3805845
- •
- Disease or Syndrome
Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.
Abnormality of the integument- MedGen UID:
- 871273
- •Concept ID:
- C4025761
- •
- Anatomical Abnormality
An abnormality of the integument, which consists of the skin and the superficial fascia.
Hyperparathyroidism- MedGen UID:
- 6967
- •Concept ID:
- C0020502
- •
- Disease or Syndrome
Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
Thyroid C cell hyperplasia- MedGen UID:
- 90975
- •Concept ID:
- C0342190
- •
- Disease or Syndrome
An abnormal growth of parafollicular (C-cells) cells.
Increased circulating cortisol level- MedGen UID:
- 871175
- •Concept ID:
- C4025651
- •
- Finding
Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the nervous system
- Constitutional symptom
- Neoplasm