Arthritis, and Pheochromocytoma

Diseases related with Arthritis and Pheochromocytoma

In the following list you will find some of the most common rare diseases related to Arthritis and Pheochromocytoma that can help you solving undiagnosed cases.


Top matches:

Low match ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Low match SYNOVIAL SARCOMA


Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).

SYNOVIAL SARCOMA Is also known as synovialosarcoma

Related symptoms:

  • Neoplasm
  • Pain
  • Arthritis
  • Sarcoma
  • Schwannoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNOVIAL SARCOMA

Low match PARAGANGLIOMAS 5; PGL5


Related symptoms:

  • Neoplasm
  • Hypertension
  • Hyperhidrosis
  • Vertigo
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 5; PGL5

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Other less relevant matches:

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match PARAGANGLIOMAS 3; PGL3


PARAGANGLIOMAS 3; PGL3 Is also known as glomus tumors, familial, 3

Related symptoms:

  • Hyperhidrosis
  • Tachycardia
  • Palpitations
  • Hoarse voice
  • Cranial nerve paralysis


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 3; PGL3

Low match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A


Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas. MEN2B (OMIM ), characterized by MTC with or without pheochromocytoma and with characteristic clinical abnormalities such as ganglioneuromas of the lips, tongue and colon, but without hyperparathyroidism, is also caused by mutation in the RET gene (summary by Lore et al., 2001).For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A Is also known as pheochromocytoma and amyloid-producing medullary thyroid carcinoma|sipple syndrome|ptc syndrome

Related symptoms:

  • Neoplasm
  • Hypertension
  • Carcinoma
  • Aganglionic megacolon
  • Hyperparathyroidism


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A

Low match CARNEY TRIAD


Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.

CARNEY TRIAD Is also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma

Related symptoms:

  • Anemia
  • Hypertension
  • Fatigue
  • Diarrhea
  • Headache


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CARNEY TRIAD

Low match PARAGANGLIOMAS 4; PGL4


PARAGANGLIOMAS 4; PGL4 Is also known as paraganglioma, familial malignant|pheochromocytoma, extraadrenal, and cervical paraganglioma|carotid body tumors and multiple extraadrenal pheochromocytomas|pheochromocytoma, familial extraadrenal|paragangliomas, hereditary extraadrenal

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 4; PGL4

Low match TESTICULAR TERATOMA


Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000). Genetic Heterogeneity of Testicular Germ Cell TumorsA locus for testicular germ cell tumors (TGCT1 ) has been identified on chromosome Xq27.

TESTICULAR TERATOMA Is also known as male germ cell tumor|mgct|teratoma of the testis

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus
  • Abnormality of metabolism/homeostasis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about TESTICULAR TERATOMA

Low match PARAGANGLIOMAS 1; PGL1


Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004).The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (OMIM ). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (OMIM ).Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma. Genetic Heterogeneity of ParagangliomasSee also PGL4 (OMIM ), caused by mutation in the SDHB gene (OMIM ) on chromosome 1p36; PGL3 (OMIM ), caused by mutation in the SDHC gene (OMIM ) on chromosome 1q21; PGL2 (OMIM ), caused by mutation in the SDHAF2 gene (OMIM ) on chromosome 11q13; and PGL5 (OMIM ), caused by mutation in the SDHA gene (OMIM ) on chromosome 5p15.

PARAGANGLIOMAS 1; PGL1 Is also known as paraganglioma, carotid body|glomus tumors, familial, 1|cbt1|glomus jugulare tumors|paragangliomas, familial, 1|chemodectomas|paragangliomas, familial nonchromaffin, 1|carotid body tumors|pgl|paragangliomata

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Hyperhidrosis
  • Dyspnea


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 1; PGL1

Top 5 symptoms//phenotypes associated to Arthritis and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Paraganglioma Common - Between 50% and 80% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Tachycardia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Pheochromocytoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Carcinoma Pain Palpitations Cranial nerve paralysis Recurrent paroxysmal headache Adrenal pheochromocytoma Hoarse voice Episodic paroxysmal anxiety Hypertension associated with pheochromocytoma Extraadrenal pheochromocytoma Glomus jugular tumor Pulsatile tinnitus Chemodectoma

Rare Symptoms - Less than 30% cases


Renal cell carcinoma Fatigue Macrotia Gastrointestinal stroma tumor Leiomyosarcoma Infertility Neoplasm of the endocrine system Vocal cord paralysis Acanthosis nigricans Kyphosis Abnormality of the dentition Carcinoid tumor Conductive hearing impairment Loss of voice Dyspnea Osteoarthritis Congestive heart failure Hypertrophic cardiomyopathy Headache Elevated circulating catecholamine level Anxiety Testicular teratoma Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Absence of subcutaneous fat Hip pain Aplastic clavicle Narrow nasal ridge Sinus tachycardia Widely patent fontanelles and sutures Corneal arcus Intermittent claudication Parietal bossing Mitral valve calcification Bird-like facies Pulmonary chondroma Prominent scalp veins Hypoplastic facial bones Reticulated skin pigmentation Old-aged sensorineural hearing impairment Arteriosclerosis Thin bony cortex Prolonged prothrombin time Absent eyelashes Multiple joint contractures High pitched voice Premature graying of hair Prolonged QT interval Exertional dyspnea Lipoatrophy Scleroderma Thin ribs Keratoconjunctivitis sicca Hypoplastic nipples Short clavicles Alopecia of scalp Thrombocytosis Abnormal EKG Transient ischemic attack Decreased serum estradiol Fragile nails Down-sloping shoulders Hyperphosphatemia Ovoid vertebral bodies Osteolytic defects of the phalanges of the hand Prominent superficial veins Angina pectoris Lack of skin elasticity Generalized osteoporosis Small face Aplasia/Hypoplasia of the earlobes Precocious atherosclerosis Enlarged joints Bilateral coxa valga Craniofacial disproportion Arteriosclerosis of small cerebral arteries Narrow nasal tip Hydrocephalus Dysphonia Ascites Gastrointestinal hemorrhage Anorexia Pulmonary infiltrates Adrenocortical adenoma Mediastinal lymphadenopathy Adrenal overactivity Neuroblastoma Paraganglioma of head and neck Elevated urinary catecholamines Cryptorchidism Abnormality of metabolism/homeostasis Emphysema Azoospermia Colon cancer Male infertility Gonadal dysgenesis Retinoblastoma Postural instability Teratoma Testicular neoplasm Testicular dysgenesis Dysgerminoma Vestibular Schwannoma Neuroma Choriocarcinoma Lymphadenopathy Nausea and vomiting Carotid artery stenosis Aganglionic megacolon Absence of pubertal development Insulin-resistant diabetes mellitus at puberty Abnormal trabecular bone morphology Regional abnormality of skin Testicular microlithiasis Tapering pointed ends of distal finger phalanges Glomus tympanicum paraganglioma Vagal paraganglioma Hypoplastic right heart Chronic obstructive pulmonary disease Abnormality of the thorax Neoplasm of the lung Hyperparathyroidism Abdominal pain Increased circulating cortisol level Upper limb undergrowth Parathyroid adenoma Thyroid carcinoma Parathyroid hyperplasia Medullary thyroid carcinoma Neurofibromas Elevated calcitonin Elevated urinary epinephrine Abnormality of the integument Anemia Diarrhea Arrhythmia Heart murmur Atherosclerosis Metaphyseal widening Cortical diaphyseal thickening of the upper limbs Abnormal toenail morphology Abnormality of the endocrine system Dysuria Deep palmar crease Anterior hypopituitarism Long penis Hypersomnia Galactorrhea Deep plantar creases Pituitary prolactin cell adenoma Dysmenorrhea Macrodactyly Broad jaw Abnormality of reproductive system physiology Growth hormone excess Sarcoma Schwannoma Synovitis Soft tissue sarcoma Fibrosarcoma Synovial sarcoma Bursitis Vertigo Intellectual disability Short stature Hearing impairment Scoliosis Growth delay Failure to thrive Broad foot Joint swelling Sensorineural hearing impairment Migraine Frontal bossing Depressivity Diabetes mellitus Mandibular prognathia Arthralgia Coarse facial features Broad forehead Synophrys Paresthesia Long face Wide nose Tapered finger Macroglossia Full cheeks Thick lower lip vermilion Palpebral edema Mitral regurgitation Tall stature Thickened skin Generalized hirsutism Abnormality of the fingernails Widely spaced teeth Cerebral palsy Sleep apnea Growth abnormality Acne Large hands Impotence Generalized hyperpigmentation Spinal canal stenosis Micrognathia Abnormal facial shape Premature ovarian insufficiency Aortic valve stenosis Convex nasal ridge Cyanosis Abnormality of the cardiovascular system Cardiomegaly Myocardial infarction Hypertriglyceridemia Thin skin Broad-based gait Decreased body weight Left ventricular hypertrophy Dental crowding Hypohidrosis Insulin resistance Sparse and thin eyebrow Aspiration Growth hormone deficiency Increased bone mineral density Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Coxa valga Aminoaciduria Osteolysis Hyperlipidemia Hypercholesterolemia Relative macrocephaly Dermal atrophy Nasal speech Intracranial hemorrhage Lipodystrophy Hyperinsulinemia Nail dysplasia Limitation of joint mobility Cataract Proptosis Flexion contracture Skeletal muscle atrophy Macrocephaly Abnormality of the skeletal system Cardiomyopathy Short nose Malar flattening Midface retrusion Alopecia Dementia Prominent forehead Osteoporosis Hypogonadism Narrow mouth Osteopenia Chest pain Carious teeth Hypodontia Delayed eruption of teeth Hepatic steatosis Thin vermilion border Delayed puberty Narrow chest Hypotrichosis Joint stiffness Hypermetropia Dilated cardiomyopathy Hip dislocation Microtia Stroke Sparse hair Gastric leiomyosarcoma



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