Congestive heart failure, and Telangiectasia

Diseases related with Congestive heart failure and Telangiectasia

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


Top matches:

Low match PARKES WEBER SYNDROME


Related symptoms:

  • Congestive heart failure
  • Headache
  • Glaucoma
  • Abnormal bleeding
  • Hemiparesis


SOURCES: ORPHANET MENDELIAN

More info about PARKES WEBER SYNDROME

Low match CEREBRAL CAVERNOUS MALFORMATIONS; CCM


Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Cerebral cavernous angiomas are to be distinguished from cerebral arteriovenous malformations ({106070}, {108010}). CCMs are venous and not demonstrable by arteriography; hence they are referred to as angiographically silent.Capillary hemangiomas (OMIM ) are classified as distinct from vascular malformations in that hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. Hemangiomas develop shortly after birth. In contrast, vascular malformations are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Mulliken and Young, 1988). Genetic Heterogeneity of CCMCCM2 (OMIM ) is caused by mutation in the CCM2/malcavernin gene (OMIM ), and CCM3 (OMIM ) is caused by mutation in the PDCD10 gene (OMIM ).Evidence suggests that a 2-hit mechanism involving biallelic germline and somatic mutations is responsible for CCM1 pathogenesis, see PATHOGENESIS and MOLECULAR GENETICS sections.

CEREBRAL CAVERNOUS MALFORMATIONS; CCM Is also known as cam|cerebral capillary malformations|cavernous angiomatous malformations|cavernous angioma, familial

Related symptoms:

  • Seizures
  • Muscle weakness
  • Hepatomegaly
  • Congestive heart failure
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBRAL CAVERNOUS MALFORMATIONS; CCM

Low match PULMONARY HYPERTENSION, PRIMARY, 1; PPH1


Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013).Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary HypertensionPPH2 (OMIM ) is caused by mutation in the SMAD9 gene (OMIM ) on chromosome 13q13; PPH3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ) on chromosome 7q31; and PPH4 (OMIM ) is caused by mutation in the KCNK3 gene (OMIM ) on chromosome 2p23.See {265400} for a possible autosomal recessive form of PPH.Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1 ), caused by mutation in the ENG gene (OMIM ), and HHT2 (OMIM ), caused by mutation in the ACVRL1 (ALK1) gene (OMIM ).

PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 Is also known as pulmonary arterial hypertension|pht|pah

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

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Other less relevant matches:

Low match HEREDITARY HEMORRHAGIC TELANGIECTASIA


Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

HEREDITARY HEMORRHAGIC TELANGIECTASIA Is also known as hht|rendu-osler disease|rendu-osler-weber disease

Related symptoms:

  • Seizures
  • Congestive heart failure
  • Cirrhosis
  • Hepatic failure
  • Hematuria


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HEMORRHAGIC TELANGIECTASIA

Low match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Low match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Low match SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2


Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 Is also known as ataxia-oculomotor apraxia 2|scan 2|scar1|ataxia-ocular apraxia 2|aoa2|ataxia-oculomotor apraxia type 2

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

Low 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

Low match TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1


Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic TelangiectasiaSee also HHT2 (OMIM ), caused by mutation in the ALK1 gene (ACVRL1 ) on chromosome 12q13; HHT3 (OMIM ), mapped to chromosome 5q31; HHT4 (OMIM ), mapped to chromosome 7p14; and HHT5 (OMIM ), caused by mutation in the GDF2 gene (OMIM ) on chromosome 10q11.See also juvenile polyposis/HHT syndrome (OMIM ), caused by mutation in the SMAD4 gene (OMIM ).

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 Is also known as telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber|orw disease|hht|osler-rendu-weber disease

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Low 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 Congestive heart failure and Telangiectasia

Symptoms // Phenotype % cases
Cirrhosis Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases
Epistaxis Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scleroderma Seizures Hemoptysis Headache Cyanosis Cardiomegaly Pulmonary arterial hypertension Abnormality of the skin Cerebral hemorrhage Fatigue Ascites Migraine Anemia Stroke Telangiectasia of the skin Portal hypertension Hepatomegaly Muscle weakness Conjunctival telangiectasia Gastrointestinal hemorrhage

Rare Symptoms - Less than 30% cases


Arthralgia Subarachnoid hemorrhage Ataxia Esophageal varix Arthritis Intestinal polyposis Hematochezia Polycythemia Melena Hematuria Neoplasm Diarrhea Spontaneous, recurrent epistaxis Hepatic failure Dysphagia Amenorrhea Flexion contracture Hematemesis Hemangiomatosis Vertigo Transient ischemic attack Cavernous hemangioma Cryptorchidism Abdominal pain Peripheral arteriovenous fistula Premature ovarian insufficiency Carcinoma Cardiomyopathy Diplopia Arrhythmia Chest pain Osteoporosis Capillary hemangioma Hypoalbuminemia Hypogonadism Dilated cardiomyopathy Scoliosis Venous malformation Clubbing Osteopenia Cough Hepatic vascular malformations Respiratory distress Abnormality of the liver Thrombocytosis Microvesicular hepatic steatosis Pericardial effusion Elevated alkaline phosphatase Increased serum iron Cholangiocarcinoma Ischemic stroke Dilatation Constrictive pericarditis Nausea Aceruloplasminemia Atherosclerosis Elevated transferrin saturation Encephalopathy Visual loss Azoospermia Abnormal glucose tolerance Impaired distal tactile sensation Hepatic steatosis Elevated hepatic transaminase Diabetes mellitus Alopecia Recurrent infections Splenomegaly Chronic axonal neuropathy Hyperpigmentation of the skin Diffuse cerebellar atrophy Impaired distal vibration sensation Elevated alpha-fetoprotein Pontocerebellar atrophy Saccadic smooth pursuit Decreased number of large peripheral myelinated nerve fibers Hepatitis Hepatic fibrosis Alcoholism Hepatocellular carcinoma Testicular atrophy Restrictive cardiomyopathy Neoplasm of the liver Acute hepatic failure Increased reactive oxygen species production Increased serum ferritin Pericarditis Insulin resistance Osteomalacia Arthropathy Abnormal joint morphology Impotence Pleural effusion Hypogonadotrophic hypogonadism Abnormality of the vasculature Visual auras Hypoxemia Short chin Tricuspid regurgitation Bilateral ptosis Precocious puberty Lipodystrophy Polycystic ovaries Ventricular tachycardia Spontaneous abortion Secondary amenorrhea Hypergonadotropic hypogonadism Increased bone mineral density Abnormality of the genital system Mitral regurgitation Atrial fibrillation Convex nasal ridge Full cheeks Bilateral cryptorchidism Thoracic scoliosis Tachycardia Wide nasal base Thyroid hemiagenesis Myofiber disarray Puberty and gonadal disorders Primary testicular failure Sclerodactyly Testicular dysgenesis Poor wound healing Short clavicles Elevated circulating luteinizing hormone level Abnormality of the ovary Elevated circulating follicle stimulating hormone level Sparse pubic hair Abnormality of the testis Poikiloderma Down-sloping shoulders Wide nose Arachnodactyly Migraine with aura Right-to-left shunt Palate telangiectasia Arteriovenous fistulas of celiac and mesenteric vessels Hepatic arteriovenous malformation Spinal arteriovenous malformation Pulmonary arteriovenous malformation Brain abscess Coronary artery aneurysm High-output congestive heart failure Cerebral arteriovenous malformation Lip telangiectasia Gastrointestinal angiodysplasia Pulmonary hemorrhage Polycystic liver disease Focal sensory seizure Arteriovenous fistula Tongue telangiectasia Nasal mucosa telangiectasia Delayed puberty Short stature Microtia Retrognathia Micropenis Intellectual disability, mild Abnormality of the skeletal system Wide nasal bridge Ptosis Intellectual disability Impaired proprioception Gastrointestinal arteriovenous malformation Dilatation of celiac artery Gastrointestinal telangiectasia Dilatation of mesenteric artery Venous varicosities of celiac and mesenteric vessels Nail bed telangiectasia Fingerpad telangiectases Gait imbalance Abnormal pyramidal sign Head tremor Cholecystitis Elevated right atrial pressure Arterial intimal fibrosis Pulmonary arterial medial hypertrophy Pulmonary aterial intimal fibrosis Pulmonary artery vasoconstriction Nephrolithiasis Amblyopia Venous thrombosis Cholelithiasis Microcytic anemia Pulmonary embolism Arteriovenous malformation Abnormality of the cerebral vasculature Visceral angiomatosis Spontaneous hematomas Increased pulmonary vascular resistance Abnormality of cardiovascular system physiology Mucosal telangiectasiae Retinal telangiectasia Vomiting Renal insufficiency Constipation Weight loss Gastroesophageal reflux Autoimmunity Carious teeth Malabsorption Nausea and vomiting Skin ulcer Osteolysis Pulmonary capillary hemangiomatosis Abnormal tricuspid valve morphology Xerostomia Abnormality of the musculature Glaucoma Abnormal bleeding Hemiparesis Nevus flammeus Varicose veins Vascular skin abnormality Hypertrophy of the lower limb Hypertrophy of the upper limb Paralysis Lower limb muscle weakness Focal-onset seizure Cerebral calcification Hemangioma Intracranial hemorrhage Neuritis Right ventricular failure Palpitations Abnormal thrombosis Edema of the lower limbs Right ventricular hypertrophy Acrocyanosis Hoarse voice Abnormal lung morphology Ventricular hypertrophy Varicocele Hypotension Sudden cardiac death Recurrent respiratory infections Edema Retinal vascular malformation Retrobulbar optic neuritis Pulmonary fibrosis Pulmonary infiltrates Impaired smooth pursuit Abnormality of extrapyramidal motor function Pes cavus Gait ataxia Distal muscle weakness Abnormality of the foot Peripheral axonal neuropathy Distal amyotrophy Distal sensory impairment Sensory neuropathy Neurodegeneration Polyneuropathy Progressive cerebellar ataxia Chorea Sensory impairment Peripheral demyelination Apraxia Elevated serum creatine phosphokinase Decreased motor nerve conduction velocity Progressive gait ataxia Urinary bladder sphincter dysfunction Cerebellar vermis atrophy Gaze-evoked nystagmus Increased antibody level in blood Sensory axonal neuropathy Postural tremor Choreoathetosis Slurred speech Hypercholesterolemia Oculomotor apraxia Truncal ataxia Sensorimotor neuropathy Limb ataxia Babinski sign Hyporeflexia Osteolytic defects of the phalanges of the hand Clubbing of fingers Oliguria Dyspareunia Decreased urine output Hypertensive crisis Narrow foramen obturatorium Abnormal bowel sounds Failure to thrive Macrocephaly Hernia Umbilical hernia Jaundice Hypokalemia Colon cancer Hamartoma Rectal prolapse Areflexia Cognitive impairment Dystonia Cerebellar atrophy Tremor Skeletal muscle atrophy Dysarthria Peripheral neuropathy Strabismus Stomach cancer Nystagmus Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Intussusception Hamartomatous polyposis Aplasia of the phalanges of the 3rd toe



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