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.
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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
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
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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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
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
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
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
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
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
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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