Myopathy, and Pheochromocytoma

Diseases related with Myopathy and Pheochromocytoma

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


Top matches:

Medium match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B


Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Low match CARCINOID SYNDROME


A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.

CARCINOID SYNDROME Is also known as malignant carcinoid syndrome

Related symptoms:

  • Neoplasm
  • Myopathy
  • Elevated hepatic transaminase
  • Nausea and vomiting
  • Asthma


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARCINOID SYNDROME

Low match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

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Other less relevant matches:

Low match DISTAL MYOPATHY, WELANDER TYPE


Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm

Related symptoms:

  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, WELANDER TYPE

Low match VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Low match HIRSCHSPRUNG DISEASE


Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Low match PARAGANGLIOMAS 5; PGL5


Related symptoms:

  • Neoplasm
  • Hypertension
  • Hyperhidrosis
  • Vertigo
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 5; PGL5

Low match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Top 5 symptoms//phenotypes associated to Myopathy and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Neoplasm of the endocrine system Vomiting Cardiomyopathy Paraganglioma Visual impairment Muscle weakness Micrognathia Aganglionic megacolon Lethargy Microcephaly Skeletal muscle atrophy Seizures Acne Short stature Scoliosis Round face Pain Constipation Visual loss Ptosis

Rare Symptoms - Less than 30% cases


Onychomycosis Telangiectasia of the skin Generalized hyperpigmentation External ophthalmoplegia Aseptic necrosis Bipolar affective disorder Adrenal hyperplasia Pituitary adenoma Increased body weight Metrorrhagia Intellectual disability Ophthalmoplegia Menorrhagia Intestinal polyposis Dysphagia Intestinal obstruction Ataxia Malnutrition Truncal obesity Weight loss Premature ovarian insufficiency Bruising susceptibility Depressivity Osteoporosis Diabetes mellitus Anteverted nares Immunodeficiency Fever Anxiety Fatigue Infertility Cataract Sleep disturbance Headache Prominent nasal bridge Recurrent fractures Psychosis Thin skin Nephrolithiasis Abdominal distention Generalized hirsutism Venous thrombosis Recurrent skin infections Hypokalemia Lipodystrophy Spasticity Nausea and vomiting Failure to thrive in infancy Episodic abdominal pain Kyphosis Pectus excavatum Achalasia Muscular hypotonia Thyroid carcinoma Disproportionate tall stature Subcutaneous nodule Neuroma Generalized hypotonia Thick eyebrow Hamartoma Irregular hyperpigmentation Hashimoto thyroiditis Lipoma Multiple lipomas Multiple cafe-au-lait spots Macronodular adrenal hyperplasia Cutis marmorata Capillary hemangioma Intracranial hemorrhage Cachexia Delayed gross motor development Narrow palate Lymphedema Telangiectasia Tall stature Broad thumb Lymphoma Aortic aneurysm Abnormality of the optic nerve Meningioma Urethral obstruction Peritonitis Abnormal large intestine morphology Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Intestinal pseudo-obstruction Urinary retention Pollakisuria Microcolon Prune belly Megacystis Uterine neoplasm Arteriovenous malformation Barrett esophagus Gastrointestinal obstruction Hypoperistalsis Abdominal wall muscle weakness Megaduodenum Subcutaneous hemorrhage Hamartomatous polyposis Neoplasm of the breast Visceral angiomatosis Angina pectoris Nevus Joint hyperflexibility Wide nose Primary hypercortisolism Intestinal perforation Total intestinal aganglionosis Macrocephaly Abnormality of enteric ganglion morphology Edema Chronic constipation Tachycardia Vertigo Obesity Osteopenia Hyperhidrosis Mental deterioration Frontal bossing Hirsutism Hypotension Memory impairment Agitation Orthostatic hypotension Striae distensae Subarachnoid hemorrhage Increased circulating cortisol level Abdominal obesity Decreased circulating ACTH level Mood changes Moon facies Functional abnormality of the gastrointestinal tract Short nose Dorsocervical fat pad Long eyelashes Dolichocephaly Neurological speech impairment Hypoglycemia Hearing impairment Sensorineural hearing impairment Feeding difficulties Hypogonadism Macrotia Sepsis Dental malocclusion Sloping forehead Low anterior hairline Neoplasm of the thyroid gland Delayed skeletal maturation Abnormal autonomic nervous system physiology Adducted thumb Flat occiput Long nose Hypoventilation Heterochromia iridis Long philtrum Enterocolitis Central hypoventilation Anteverted ears Total colonic aganglionosis Volvulus Polyhydramnios Hyperparathyroidism Protracted diarrhea Ganglioneuromatosis Multiple mucosal neuromas Elevated hepatic transaminase Asthma Palpitations Heart murmur Epiphora Tricuspid regurgitation Night sweats Carcinoid tumor Rhinorrhea Right ventricular failure Chronic noninfectious lymphadenopathy Increased serum serotonin Facial telangiectasia Inguinal freckling Abnormal B-type natriuretic peptide level Hyperreflexia Motor delay Flexion contracture Cognitive impairment Nystagmus Growth delay Small intestine carcinoid Bronchospasm Erythematous plaque Intestinal carcinoid Pulmonary carcinoid tumor Atypical pulmonary carcinoid tumor Hepatic necrosis Lack of bowel sounds Prominent corneal nerve fibers Elevated urinary epinephrine Blindness Thick lower lip vermilion Abnormal facial shape High palate Abnormality of the skeletal system Pes cavus Proptosis Coarse facial features Photophobia Carcinoma Joint laxity Hyperlordosis Thick vermilion border High, narrow palate Polyneuropathy Abnormality of the skin Hemiparesis Subcutaneous neurofibromas Colonic diverticula Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Nodular goiter Elevated calcitonin Schizencephaly Ganglioneuroma Medullary thyroid carcinoma Cafe-au-lait spot Lisch nodules Parathyroid hyperplasia Flushing Freckling Neurofibromas Goiter Optic atrophy Hypertonia Hydroureter Hydronephrosis Hemolytic-uremic syndrome Increased intramyocellular lipid droplets Progressive leukoencephalopathy Decreased activity of mitochondrial complex II Abnormal mitochondria in muscle tissue Left ventricular systolic dysfunction Stress/infection-induced lactic acidosis Cleft palate Cryptorchidism Peripheral neuropathy Dilatation Abnormality of cardiovascular system morphology Pneumonia Umbilical hernia Low-set, posteriorly rotated ears Ketonuria Interphalangeal joint contracture of finger Anonychia Portal hypertension Hypoalbuminemia Pancreatitis Horseshoe kidney Recurrent urinary tract infections Overgrowth Joint stiffness Intestinal malrotation Vesicoureteral reflux Arachnodactyly Narrow chest Broad forehead Abnormality of the liver Left ventricular noncompaction Preeclampsia Congestive heart failure Dilated cardiomyopathy Dystonia Absent speech Arrhythmia Babinski sign Dementia Myoclonus Respiratory failure Acidosis Neonatal hypotonia Proximal muscle weakness Hypertrophic cardiomyopathy Developmental regression Respiratory tract infection Retinopathy Lactic acidosis Ketosis Congenital hip dislocation Rhabdomyolysis Oral-pharyngeal dysphagia Easy fatigability Ragged-red muscle fibers Leukoencephalopathy Exercise intolerance Leukodystrophy Tetraplegia Mitral regurgitation Spastic tetraplegia Pigmentary retinopathy Increased serum lactate Generalized myoclonic seizures Generalized muscle weakness Neoplasm of the adrenal cortex



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