Congestive heart failure, and Amenorrhea

Diseases related with Congestive heart failure and Amenorrhea

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Amenorrhea that can help you solving undiagnosed cases.


Top matches:

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 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 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

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Other less relevant matches:

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

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

Medium match AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY


Related symptoms:

  • Micrognathia
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Medium match MCCUNE-ALBRIGHT SYNDROME; MAS


Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

Medium match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Top 5 symptoms//phenotypes associated to Congestive heart failure and Amenorrhea

Symptoms // Phenotype % cases
Diabetes mellitus Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Secondary amenorrhea Common - Between 50% and 80% cases
Polycystic ovaries Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Amenorrhea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Arrhythmia

Uncommon Symptoms - Between 30% and 50% cases


Cardiomyopathy Insulin resistance Hepatic steatosis Lipodystrophy Hypogonadism Dysmenorrhea Thin skin Myopathy Acanthosis nigricans Pancreatitis Atherosclerosis Myalgia Hypertriglyceridemia Loss of subcutaneous adipose tissue in limbs Reduced subcutaneous adipose tissue Infertility Skeletal muscle hypertrophy Hypertension Dilated cardiomyopathy Osteoporosis Hirsutism Lipoatrophy Aplasia/Hypoplasia of the skin Epidermal acanthosis Hyperinsulinemia Xanthomatosis Primary amenorrhea Prominent superficial veins Generalized hirsutism Coronary artery atherosclerosis Hyperglycemia Muscle weakness Hypertrophic cardiomyopathy Cirrhosis Short stature Abnormality of the skeletal system Elevated hepatic transaminase Abnormality of skeletal muscle fiber size Intellectual disability Osteopenia Decreased HDL cholesterol concentration Recurrent infections

Rare Symptoms - Less than 30% cases


Cryptorchidism Osteomalacia Scoliosis Microcephaly Dysphagia Ptosis Skeletal muscle atrophy Diarrhea Elevated serum creatine phosphokinase Proximal muscle weakness Generalized muscle weakness Hypergonadotropic hypogonadism Exercise intolerance Spinal rigidity Flexion contracture Spontaneous abortion Tachycardia Increased intraabdominal fat Adipose tissue loss Congenital generalized lipodystrophy Generalized lipodystrophy Hyperlipidemia Dilatation Hypothyroidism Vomiting Hearing impairment Global developmental delay Increased facial adipose tissue Increased adipose tissue around the neck Abnormality of the skin Advanced eruption of teeth Osteolytic defects of the phalanges of the hand Ventricular arrhythmia Abnormality of the nail Pain Micrognathia Short clavicles Precocious puberty Ventricular tachycardia Cardiomegaly Atrial fibrillation Telangiectasia Round face Hepatosplenomegaly Maternal diabetes Ataxia Azoospermia Impotence Arthropathy Increased serum ferritin Hyperlipoproteinemia Increased serum iron Elevated transferrin saturation Anemia Insulin-resistant diabetes mellitus Abdominal pain Hyperuricemia Arthritis Abnormality of the liver Myocardial infarction Delayed puberty Neoplasm Eclampsia Lethargy Hyperpigmentation of the skin Hypogonadotrophic hypogonadism Depressed nasal bridge Intestinal polyposis Autoimmunity Craniofacial hyperostosis Hyperactivity Ovarian cyst Pseudohypoparathyroidism Hamartomatous polyposis Multinodular goiter Myelofibrosis Axillary freckling Blindness Thyroid nodule Osteosarcoma Abnormal facial shape Thiamine-responsive megaloblastic anemia Polyostotic fibrous dysplasia Paroxysmal atrial tachycardia Precocious puberty in females Large cafe-au-lait macules with irregular margins Monostotic fibrous dysplasia Cataract Progressive peripheral neuropathy Sideroblastic anemia Obesity Pectus excavatum High forehead Papule Pituitary hypothyroidism Decreased liver function Gynecomastia Hyperostosis Aspiration Cafe-au-lait spot Tall stature Nephrocalcinosis Neoplasm of the skin Nephrolithiasis Goiter Hypercalciuria Elevated alkaline phosphatase Hypercalcemia Rickets Acne Nevus Adrenal insufficiency Synophrys Hypophosphatemia Neurofibromas Abdominal distention Pathologic fracture Facial asymmetry Narrow chest Abnormality of the thyroid gland Freckling Hyperparathyroidism Hyperthyroidism Growth hormone excess Syringomyelia Increased circulating cortisol level Prolactin excess Pituitary adenoma Hepatitis Thin vermilion border Reduced bone mineral density Increased variability in muscle fiber diameter Cutis marmorata Ventricular fibrillation Failure to thrive in infancy Prominent supraorbital ridges Pyloric stenosis Delayed gross motor development Prolonged QT interval Accelerated skeletal maturation Recurrent bacterial infections Pointed chin Muscle stiffness Bradycardia Sparse and thin eyebrow Mildly elevated creatine phosphokinase IgA deficiency Palpitations Abnormal levels of creatine kinase in blood Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Atlantoaxial instability Polymorphic ventricular tachycardia Fasting hyperinsulinemia Protuberant abdomen Atlantoaxial dislocation Prolonged QTc interval Ileus Exercise-induced myalgia Supraventricular tachycardia Progressive proximal muscle weakness Long eyelashes Ventricular hypertrophy Cranial nerve paralysis Abnormality of the menstrual cycle Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Sunken cheeks Abnormality of complement system Osteopoikilosis Absence of subcutaneous fat Acute pancreatitis Labial pseudohypertrophy Angina pectoris Peripheral arterial stenosis Abdominal situs inversus Abnormality of lipid metabolism Glomerulopathy Cellulitis Myelin tomacula Increased intramuscular fat Growth hormone deficiency Postnatal growth retardation Sudden cardiac death Spastic paraplegia Muscular dystrophy Distal muscle weakness Joint stiffness Protruding ear Hyperlordosis Generalized hypotonia Neonatal hypotonia Rigidity Constipation Delayed skeletal maturation Talipes equinovarus Feeding difficulties Failure to thrive Abnormality of the basal ganglia Anorexia Megaloblastic anemia Abnormality of the neck Prominent veins on trunk Loss of facial adipose tissue External ophthalmoplegia Respiratory insufficiency due to muscle weakness Ragged-red muscle fibers Easy fatigability Dysphonia Chronic kidney disease Nasal speech Generalized amyotrophy Calf muscle pseudohypertrophy Progressive external ophthalmoplegia Proximal amyotrophy Spinal deformities Preeclampsia Stage 5 chronic kidney disease Full cheeks Abnormality of the face Increased bone mineral density Abnormality of the genital system Mitral regurgitation Abnormality of the musculature Convex nasal ridge Wide nose Wide nasal bridge Arachnodactyly Microtia Retrognathia Micropenis Intellectual disability, mild Oligomenorrhea Nausea Limb muscle weakness Bilateral ptosis Increased reactive oxygen species production Abnormal glucose tolerance Alcoholism Testicular atrophy Restrictive cardiomyopathy Neoplasm of the liver Acute hepatic failure Hepatocellular carcinoma Cholangiocarcinoma Pericarditis Carcinoma Abnormal joint morphology Pleural effusion Hepatic fibrosis Hepatic failure Microvesicular hepatic steatosis Constrictive pericarditis Ophthalmoplegia Hyporeflexia Facial palsy Loss of gluteal subcutaneous adipose tissue Dyspnea Respiratory failure Cerebellar hypoplasia Marked muscular hypertrophy Renal insufficiency Aceruloplasminemia Kyphosis Cerebellar atrophy Respiratory insufficiency Fatigue Alopecia Arthralgia Short chin Premature ovarian insufficiency Macrocytic anemia Atrial septal defect Hypoglycemia Gastroesophageal reflux Abnormal heart morphology Visual loss Thrombocytopenia Headache Ventricular septal defect Abnormal cardiac septum morphology Optic atrophy Sensorineural hearing impairment Nystagmus Portal hypertension Seizures Proximal upper limb muscle hypertrophy Pallor Stroke Decreased adiponectin level Ascites Myelodysplasia Cone/cone-rod dystrophy Aminoaciduria Hoarse voice Cardiac arrest Situs inversus totalis Pancytopenia Paresthesia Bilateral sensorineural hearing impairment Aciduria Neutropenia Polyneuropathy Retinal dystrophy Retinal degeneration Muscle hypertrophy of the lower extremities Acroosteolysis of distal phalanges (feet) Tricuspid regurgitation Sparse pubic hair Testicular dysgenesis Wide nasal base Poor wound healing Elevated circulating luteinizing hormone level Abnormality of the ovary Elevated circulating follicle stimulating hormone level Abnormality of the testis Primary testicular failure Poikiloderma Down-sloping shoulders Abnormality of endocrine pancreas physiology Thoracic scoliosis Scleroderma Bilateral cryptorchidism Sclerodactyly Puberty and gonadal disorders Minimal subcutaneous fat Precocious atherosclerosis Generalized hyperpigmentation Accelerated atherosclerosis Decreased serum leptin Narrow nasal ridge Abnormal atrioventricular conduction Supraventricular arrhythmia Congenital hepatic fibrosis Myofiber disarray Progeroid facial appearance Premature graying of hair Abnormality of iron homeostasis Abnormality of the anterior pituitary Aplasia of the phalanges of the 3rd toe Thyroid hemiagenesis Muscle mounding



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