Cardiomyopathy, and Primary amenorrhea

Diseases related with Cardiomyopathy and Primary amenorrhea

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


Top matches:

Medium match PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Medium match PENOSCROTAL TRANSPOSITION


Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME


Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency|peo-myopathy-emaciation syndrome|mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

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Other less relevant matches:

Medium match AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Medium match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Medium match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Medium match LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP


Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Motor delay
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP

Medium match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Medium match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Medium match DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Primary amenorrhea

Symptoms // Phenotype % cases
Amenorrhea Very Common - Between 80% and 100% cases
Hypogonadism Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Primary amenorrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Arrhythmia Osteoporosis Diabetes mellitus Abdominal pain Secondary amenorrhea Splenomegaly Elevated hepatic transaminase Abnormality of the liver Ptosis Pain Cirrhosis Increased serum ferritin Cryptorchidism Ataxia Hyperpigmentation of the skin Neoplasm Fatigue Hypogonadotrophic hypogonadism Impotence Ragged-red muscle fibers Arthritis Increased serum iron Premature ovarian insufficiency Hypergonadotropic hypogonadism Hepatomegaly Azoospermia Muscle weakness Cerebellar atrophy

Rare Symptoms - Less than 30% cases


Elevated circulating follicle stimulating hormone level Elevated transferrin saturation Limb muscle weakness Elevated circulating luteinizing hormone level Arthropathy Recurrent infections Ophthalmoplegia Delayed puberty Skeletal muscle atrophy Facial palsy Dysphagia Proximal muscle weakness Elevated serum creatine phosphokinase Hyporeflexia Respiratory insufficiency Microcephaly Hypertension Exercise intolerance Edema Nystagmus Short stature Testicular atrophy Gonadal dysgenesis Left ventricular hypertrophy Atrial fibrillation Restrictive cardiomyopathy Lethargy Gastroesophageal reflux Gait ataxia Constipation Depressivity Gait disturbance External ophthalmoplegia Tremor Dysarthria Cognitive impairment Cataract Sensorineural hearing impairment Anemia Arthralgia Sparse pubic hair Seizures Progressive external ophthalmoplegia Dysphonia Easy fatigability Osteopenia Intellectual disability, mild Insulin resistance Myopathy Wide intermamillary distance Abnormality of the genital system Hypertrophic cardiomyopathy Myalgia Lipodystrophy Polycystic ovaries Epicanthus Micrognathia Hernia Infertility Cardiomegaly Hepatic steatosis Micropenis Telangiectasia Abnormality of the vertebral column Patent foramen ovale Radial deviation of finger Abnormality of the coagulation cascade Failure to thrive in infancy Cubitus valgus Abnormality of color vision Neurofibromas Myelodysplasia Cystic hygroma Male infertility Puberty and gonadal disorders Primary testicular failure Leukocytosis Malignant hyperthermia Neuroblastoma Synovitis Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Shield chest Abnormality of blood and blood-forming tissues Wide nasal base Testicular dysgenesis Atrial flutter Nonimmune hydrops fetalis Sclerodactyly Drusen Pterygium Arnold-Chiari type I malformation Elevated alkaline phosphatase Hepatic failure Poor suck Polyhydramnios Broad forehead Abnormal cardiac septum morphology Sparse hair Postnatal growth retardation Thyroid hemiagenesis Low-set, posteriorly rotated ears Kyphoscoliosis Proptosis Hypotrichosis Posteriorly rotated ears Rod-cone dystrophy Abnormal heart morphology Patent ductus arteriosus Clinodactyly Pectus excavatum Thrombocytopenia Leukemia Pulmonic stenosis Arnold-Chiari malformation Ventricular hypertrophy Bicuspid aortic valve Plagiocephaly Myofiber disarray Reduced factor XII activity Amblyopia Clumsiness Low posterior hairline Coarctation of aorta Facial asymmetry Webbed neck Dental malocclusion Abnormal bleeding Abdominal distention Triangular face High, narrow palate Bruising susceptibility Lymphedema Abnormality of the ovary Neurofibrosarcoma Abnormal glucose tolerance Increased reactive oxygen species production Acute hepatic failure Apraxia Neurodegeneration Abnormality of the cerebral white matter Neoplasm of the liver Alcoholism Mental deterioration Pericarditis Microvesicular hepatic steatosis Dementia Dystonia Cholangiocarcinoma Constrictive pericarditis Motor delay Abnormality of cardiovascular system morphology Hepatocellular carcinoma Osteomalacia Scoliosis Congenital hepatic fibrosis Ascites Hepatitis Alopecia Abnormality of endocrine pancreas physiology Hepatic fibrosis Abnormality of the anterior pituitary Abnormality of iron homeostasis Generalized hyperpigmentation Leukoencephalopathy Pleural effusion Portal hypertension Abnormal joint morphology Progressive leukoencephalopathy Periventricular leukomalacia Progressive gait ataxia Loss of speech Congenital nystagmus Aceruloplasminemia Flexion contracture Panuveitis Reduced factor XIII activity Tricuspid regurgitation Bilateral cryptorchidism Scleroderma Thoracic scoliosis Short clavicles Nasogastric tube feeding Down-sloping shoulders Poikiloderma Postductal coarctation of the aorta Gonadal neoplasm Pectus excavatum of inferior sternum Abnormality of the testis Loose anagen hair Carcinoma Juvenile myelomonocytic leukemia Poor wound healing Preductal coarctation of the aorta Bilateral ptosis Wide nasal bridge Lymphopenia Abnormality of the skeletal system Retrognathia Microtia Arachnodactyly Tachycardia Purpura Wide nose Full cheeks Precocious puberty Abnormality of the skin Neutropenia Convex nasal ridge Mitral regurgitation Increased bone mineral density Spontaneous abortion Short chin Ventricular tachycardia Spasticity Absent Achilles reflex Dilatation Shawl scrotum Perineal hypospadias Pseudohypoparathyroidism Aplasia of the uterus Menstrual irregularities Patellar aplasia Labial hypoplasia Sparse axillary hair Male pseudohermaphroditism Abnormality of the ureter Nephrogenic diabetes insipidus Prominent occiput Diabetes insipidus Bifid scrotum Growth abnormality Bilateral single transverse palmar creases Gynecomastia Renal dysplasia Ambiguous genitalia Dimple chin Abnormality of the urethra Pectus carinatum Renal insufficiency Chronic kidney disease Respiratory insufficiency due to muscle weakness Generalized muscle weakness Nausea Stage 5 chronic kidney disease Dyspnea Respiratory failure Cerebellar hypoplasia Kyphosis Penoscrotal hypospadias Diarrhea Scrotal hypospadias Incomplete male pseudohermaphroditism Penoscrotal transposition Blind vagina Absent facial hair Female external genitalia in individual with 46,XY karyotype Abnormal external genitalia Renal agenesis Cerebral cortical atrophy Generalized amyotrophy Pancreatitis Aplasia/Hypoplasia of the skin Lipoatrophy Reduced subcutaneous adipose tissue Coronary artery atherosclerosis Skeletal muscle hypertrophy Hyperglycemia Hyperinsulinemia Atherosclerosis Acanthosis nigricans Hyperuricemia Generalized hirsutism Abnormality of the face Thin skin Myocardial infarction Hypertriglyceridemia Epidermal acanthosis Hirsutism Hepatosplenomegaly Abnormality of the musculature Insulin-resistant diabetes mellitus Clinodactyly of the 5th finger Loss of facial adipose tissue Inguinal hernia Hypospadias Obesity Marked muscular hypertrophy Loss of gluteal subcutaneous adipose tissue Abnormality of skeletal muscle fiber size Prominent veins on trunk Eclampsia Dysmenorrhea Oligomenorrhea Loss of subcutaneous adipose tissue in limbs Calf muscle pseudohypertrophy Hyperlipoproteinemia Decreased HDL cholesterol concentration Xanthomatosis Prominent superficial veins Abnormality of the neck Preeclampsia Maternal diabetes Nasal speech Spinal rigidity Headache Parkinsonism with favorable response to dopaminergic medication Multiple mitochondrial DNA deletions Impaired distal proprioception Nocturia Impaired distal vibration sensation Cytochrome C oxidase-negative muscle fibers Muscle fiber necrosis Gastroparesis Cogwheel rigidity Abnormality of the mitochondrion Subsarcolemmal accumulations of abnormally shaped mitochondria Skeletal myopathy Reduced ejection fraction Shoulder girdle muscle weakness Hypomimic face Facial diplegia Ketosis Mitochondrial myopathy Bipolar affective disorder Acute rhabdomyolysis Progressive ophthalmoplegia Rhabdomyolysis Depressed nasal bridge Vomiting Atrial septal defect Short neck Ventricular septal defect Downslanted palpebral fissures Fever Myopia Brachydactyly Feeding difficulties Quadriceps muscle weakness High palate Low-set ears Abnormal facial shape Strabismus Hypertelorism Growth delay Global developmental delay Focal white matter lesions Hyperthyroidism Exertional dyspnea Proximal amyotrophy Acidosis Sensory neuropathy Lactic acidosis Peripheral axonal neuropathy Abnormality of eye movement Congenital cataract Retinopathy Anxiety Rigidity Hypothyroidism Muscle cramps Pes cavus Hypertonia Peripheral neuropathy Visual impairment Failure to thrive Hearing impairment Generalized hypotonia Spinal deformities Coma Parkinsonism Resting tremor Ventricular arrhythmia Hypokinesia Difficulty climbing stairs Glucose intolerance Sensory axonal neuropathy Increased variability in muscle fiber diameter Ophthalmoparesis Abnormality of mitochondrial metabolism Goiter EMG: myopathic abnormalities Migraine Sensorimotor neuropathy Cerebral visual impairment Progressive muscle weakness Frequent falls Palpitations Abnormality of extrapyramidal motor function Bradykinesia Pigmentary retinopathy Increased serum lactate Aplasia of the phalanges of the 3rd toe



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