Edema, and Epistaxis

Diseases related with Edema and Epistaxis

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

Top matches:

Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.

Related symptoms:

  • Abnormal bleeding
  • Epistaxis
  • Spontaneous abortion
  • Cerebral hemorrhage
  • Joint swelling


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL AFIBRINOGENEMIA

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.

BODY SKIN HYPERLAXITY DUE TO VITAMIN K-DEPENDENT COAGULATION FACTOR DEFICIENCY Is also known as pseudoxanthoma elasticum-like syndrome|pxe-like syndrome|pxe-like disorder with multiple coagulation factor deficiency

Related symptoms:

  • Dilatation
  • Papule
  • Abnormal bleeding
  • Epistaxis
  • Atherosclerosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BODY SKIN HYPERLAXITY DUE TO VITAMIN K-DEPENDENT COAGULATION FACTOR DEFICIENCY

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

Other less relevant matches:

Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME Is also known as arc syndrome|arcs

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Top 5 symptoms//phenotypes associated to Edema and Epistaxis

Symptoms // Phenotype % cases
Fatigue Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Abnormal bleeding Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Epistaxis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Gingival bleeding Hearing impairment Splenomegaly Hematuria Dyspnea Fever Peripheral neuropathy Anemia Seizures Proteinuria Global developmental delay Renal insufficiency Generalized hypotonia Failure to thrive Diabetes insipidus Meningitis Strabismus Pulmonary infiltrates Headache Arrhythmia Periorbital edema Cranial nerve paralysis Visual impairment Vasculitis Anorexia Gastrointestinal hemorrhage Abdominal pain Thrombocytopenia Lymphadenopathy Arthritis Stroke Paresthesia Weight loss Visual loss Skin ulcer Elevated erythrocyte sedimentation rate Edema of the lower limbs Cough Hypertension Congestive heart failure Pain Vertigo Pancytopenia Bruising susceptibility Respiratory distress Hypersplenism Hepatosplenomegaly Abnormality of the eye Pulmonary arterial hypertension

Rare Symptoms - Less than 30% cases

Multiple myeloma Increased susceptibility to fractures Nystagmus Bone pain Diplopia Increased bone mineral density Osteolysis Stridor Vertebral compression fractures Myalgia Increased antibody level in blood Abnormal myocardium morphology Interstitial pulmonary abnormality Pericardial effusion Pathologic fracture Depressivity Aseptic necrosis Arthralgia Dementia Parkinsonism Sensorineural hearing impairment Osteoporosis Gait disturbance Erlenmeyer flask deformity of the femurs Nephropathy Mental deterioration Jaundice Osteopenia Atrial septal defect Neurological speech impairment Leukopenia Delayed puberty Arteritis Cerebral ischemia Gangrene Generalized myoclonic seizures Petechiae Pericarditis Hyperpigmentation of the skin Delayed skeletal maturation Sensory neuropathy Spasticity Chest pain Recurrent infections Sudden cardiac death Hemoptysis Leukemia Autoimmunity Hoarse voice Proptosis Diarrhea Right ventricular hypertrophy Respiratory insufficiency Neoplasm Abnormal lung morphology Ventricular hypertrophy Cyanosis Cirrhosis Ascites Lymphoma Abnormality of coagulation Papule Purpura Cerebral hemorrhage Pleural effusion Intestinal obstruction Glomerulonephritis Giant melanosomes in melanocytes Chronic otitis media Recurrent cutaneous abscess formation Pulmonary fibrosis Abnormal leukocyte morphology Hemiplegia Hypofibrinogenemia Oculogyric crisis Restrictive ventilatory defect Spontaneous abortion Abnormality of multiple cell lineages in the bone marrow Pancreatitis Venous thrombosis Nausea and vomiting Conjunctivitis Recurrent systemic pyogenic infections Generalized hypopigmentation of hair Sinusitis Cardiomyopathy Subcutaneous nodule Hydronephrosis Myocardial infarction Otitis media Paralysis Retinopathy Skin rash Cutis marmorata Hemophagocytosis Recurrent bacterial skin infections Peripheral demyelination Foot dorsiflexor weakness Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Abnormality of extrapyramidal motor function Bradykinesia Brain atrophy Decreased nerve conduction velocity Joint swelling Hypopigmentation of the skin Neutropenia Neurodegeneration Menometrorrhagia Falls Abnormality of vision Melanocytic nevus Macular hypoplasia Fair hair Partial albinism Progressive peripheral neuropathy Wheezing Spinocerebellar tract degeneration White hair Generalized hypopigmentation Periodontitis Albinism Gingivitis Iris hypopigmentation Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Glomerulopathy Abnormality of the nose Myositis Abnormality of the thorax Hepatocellular carcinoma Protuberant abdomen Exertional dyspnea Osteomyelitis Menorrhagia Leukocytosis Clubbing Portal hypertension Increased serum ferritin Cholelithiasis Reduced bone mineral density Oculomotor apraxia Spastic paraparesis Hepatic fibrosis Decreased body weight Osteoarthritis Bipolar affective disorder Supranuclear gaze palsy Apraxia Abnormal platelet function Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Orthopnea Arthralgia of the hip Avascular necrosis of the capital femoral epiphysis Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Esodeviation Generalized osteosclerosis Abnormality of the spleen Progressive neurologic deterioration Abnormality of the cardiovascular system Tracheal stenosis Elevated C-reactive protein level Endocarditis Neuritis Granulomatosis Pleuritis Subglottic stenosis Ocular pain Rhinorrhea Inflammatory abnormality of the eye Abnormal oral cavity morphology Nasal obstruction Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Paraplegia Concave nasal ridge Angina pectoris Chronic obstructive pulmonary disease Ureteral stenosis Episcleritis Syncope Myopia Abdominal distention Abnormality of skin pigmentation Abnormality of eye movement Corneal opacity EEG abnormality Myoclonus Kyphosis Motor delay Increased inflammatory response Cognitive impairment Growth delay Scoliosis Short stature Prostatitis Recurrent intrapulmonary hemorrhage Scleritis Peripheral axonal neuropathy Tremor Abnormality of movement Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Pulmonary capillary hemangiomatosis Microcephaly Elevated right atrial pressure Arterial intimal fibrosis Jaw claudication Retinal arteritis Pulmonary arterial medial hypertrophy Hemangiomatosis Glossitis Gastrointestinal infarctions Impaired mastication Abdominal aortic aneurysm Amaurosis fugax Mediastinal lymphadenopathy Micrognathia Muscular hypotonia Recurrent pharyngitis Abnormal tricuspid valve morphology Arthrogryposis multiplex congenita Pruritus Hip dislocation Abnormality of the liver Right ventricular failure Elevated hepatic transaminase Spontaneous, recurrent epistaxis Low-set ears Acidosis Hyperkeratosis Increased pulmonary vascular resistance Hypoplasia of the corpus callosum Talipes equinovarus Ventricular septal defect High palate Abnormality of the pleura Abnormal thrombocyte morphology Ichthyosis Multifocal epileptiform discharges Muscle weakness Urticaria Polyclonal elevation of IgM Cryoglobulinemia Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Retinal hemorrhage Optic atrophy Abnormality of neutrophils Normocytic anemia Reduced consciousness/confusion Abnormality of the retinal vasculature Lymphoproliferative disorder Hypercoagulability Ptosis Blindness Arterial thrombosis Pallor Pulmonary aterial intimal fibrosis Aortic dissection Pulmonary artery vasoconstriction Visual field defect Ophthalmoparesis Optic disc pallor Hepatic failure Memory impairment Joint stiffness Malabsorption Conductive hearing impairment Polyneuropathy Hyperhidrosis Alopecia Migraine Talipes Abnormal thrombosis Spastic paraplegia Angioid streaks of the fundus Redundant skin Aspiration pneumonia Macular atrophy Dilatation of the cerebral artery Hematemesis Intermittent claudication Oral-pharyngeal dysphagia Cutis laxa Reduced factor IX activity Reduced factor VII activity Hyperkinesis Shock Reduced factor X activity Reduced prothrombin activity Chronic fatigue Atherosclerosis Peau d'orange Areflexia Developmental regression Rigidity Photophobia Difficulty walking Reduced visual acuity Hyporeflexia Immunodeficiency Vertical supranuclear gaze palsy Cerebellar atrophy Raynaud phenomenon Skeletal muscle atrophy Intellectual disability Dilatation Mitral valve calcification Aortic valve calcification Aspiration Hydrops fetalis Metabolic acidosis Hyperbilirubinemia Barrel-shaped chest Renal tubular dysfunction Severe failure to thrive Renal tubular acidosis Lissencephaly Aminoaciduria Nephrocalcinosis Cholestatic liver disease Congenital hip dislocation Cholestasis Sloping forehead Dehydration Hip dysplasia Single transverse palmar crease Conjugated hyperbilirubinemia Lichenification Hypotension Scleroderma Ophthalmoplegia Cardiomegaly Palpitations Telangiectasia Pneumonia Encephalopathy Abnormality of the skeletal system Generalized aminoaciduria Dysphagia Feeding difficulties Acrocyanosis Capillary hemangioma Talipes calcaneovalgus Giant cell hepatitis Nephrogenic diabetes insipidus Horizontal supranuclear gaze palsy


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