Cardiomyopathy, and Epistaxis

Diseases related with Cardiomyopathy and Epistaxis

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


Top matches:

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Medium match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Medium match GRANULOMATOSIS WITH POLYANGIITIS


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

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Medium match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match GAUCHER DISEASE, TYPE I


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

Low match GAUCHER DISEASE TYPE 1


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

Low match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Low match VON WILLEBRAND DISEASE TYPE 1


Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).

VON WILLEBRAND DISEASE TYPE 1 Is also known as von willebrand disease, type i|vwd, type 1

Related symptoms:

  • Autoimmunity
  • Bruising susceptibility
  • Gastrointestinal hemorrhage
  • Mitral valve prolapse
  • Epistaxis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about VON WILLEBRAND DISEASE TYPE 1

Low match FAMILIAL HYPERALDOSTERONISM TYPE III


Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.

FAMILIAL HYPERALDOSTERONISM TYPE III Is also known as fh3|fh iii|familial hyperaldosteronism type 3|fh-iii

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Headache
  • Nausea
  • Hirsutism


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL HYPERALDOSTERONISM TYPE III

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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Epistaxis

Symptoms // Phenotype % cases
Dyspnea Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Recurrent respiratory infections Strabismus Failure to thrive Bruising susceptibility Abnormal bleeding Respiratory distress Pulmonary arterial hypertension Proteinuria Hematuria Edema Splenomegaly Thrombocytopenia Cirrhosis Hepatosplenomegaly Abdominal pain Short stature Pain Cyanosis Congestive heart failure Ascites Growth delay Gastrointestinal hemorrhage Abnormal lung morphology Pulmonary fibrosis Restrictive ventilatory defect Global developmental delay Hydrops fetalis Ataxia Arrhythmia Anemia Cholelithiasis Abnormality of the thorax Petechiae Menorrhagia Gait disturbance Erlenmeyer flask deformity of the femurs Interstitial pulmonary abnormality Bone pain Increased bone mineral density Osteolysis Generalized myoclonic seizures Increased susceptibility to fractures Increased antibody level in blood Delayed puberty Pancytopenia Aseptic necrosis Osteoporosis Vertebral compression fractures Dementia Multiple myeloma Abnormal myocardium morphology Delayed skeletal maturation Pericardial effusion Abnormality of the spleen Generalized hypotonia Myopia

Rare Symptoms - Less than 30% cases


Orthopnea Supranuclear gaze palsy Avascular necrosis of the capital femoral epiphysis Aortic valve calcification Generalized osteosclerosis Stridor Hypersplenism Pleural effusion Spontaneous hematomas Ventricular hypertrophy Cardiomegaly Otitis media Cardiac valve calcification Vasculitis Mitral valve calcification Meningitis Hoarse voice Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Chest pain Horizontal supranuclear gaze palsy Sinusitis Cough Pathologic fracture Autoimmunity Corneal opacity Edema of the lower limbs Pulmonary infiltrates Hemoptysis Oculomotor apraxia Lymphadenopathy Arteritis Abdominal distention Osteopenia Syncope Myoclonus Depressivity Progressive neurologic deterioration Kyphosis Decreased body weight Diarrhea Periorbital edema Myalgia Leukopenia Scoliosis Portal hypertension Clubbing Cognitive impairment Hepatic fibrosis Feeding difficulties Exertional dyspnea Renal insufficiency Hepatocellular carcinoma Motor delay Arthritis Abnormality of eye movement Encephalopathy Muscle weakness Neurological speech impairment Impaired platelet aggregation Mental deterioration Abnormality of the eye Immunodeficiency Aortic valve stenosis Gingival bleeding Spasticity Myopathy Depressed nasal bridge Hyperpigmentation of the skin Anteverted nares Abnormal thrombosis Prolonged bleeding time Anorexia Ophthalmoplegia Hearing impairment Astigmatism Headache Weight loss Visual impairment Malabsorption Dysphagia Nystagmus Recurrent corneal erosions Hypochromic microcytic anemia EEG abnormality Chylothorax Reduced factor XII activity Reduced factor IX activity Abnormality of the subarachnoid space Prominent fingertip pads Pulmonary lymphangiectasia Juvenile myelomonocytic leukemia Abnormality of the mediastinum Dexamethasone-suppresible primary hyperaldosteronism Hypoplasia of olfactory tract Reduced factor X activity Monocytosis Reduced prothrombin activity Broad toe Right ventricular hypertrophy Pulmonary aterial intimal fibrosis Hypotension Hyperkinesis Right ventricular failure Capillary hemangioma Oral-pharyngeal dysphagia Aspiration Abnormal tricuspid valve morphology Scleroderma Telangiectasia Spontaneous, recurrent epistaxis Increased pulmonary vascular resistance Macular atrophy Palpitations Hemangiomatosis Abnormality of the skeletal system Aspiration pneumonia Pulmonary capillary hemangiomatosis Elevated right atrial pressure Sudden cardiac death Vertigo Primary hyperaldosteronism Chronic fatigue Arterial intimal fibrosis Pulmonary arterial medial hypertrophy Pneumonia Shock Vertical supranuclear gaze palsy Acrocyanosis Hypokalemia Abnormal circulating renin Thoracic kyphosis Abnormal saccadic eye movements Hyperaldosteronism Astrocytosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Hypercoagulability Slow saccadic eye movements Abnormal heart valve morphology Abnormality of ion homeostasis Bulbar palsy Abnormality of the sternum Lower limb hyperreflexia Abnormal retinal morphology Opisthotonus Hypoalbuminemia Lymphopenia Prolonged QT interval Abnormality of the acoustic reflex Progressive cerebellar ataxia Polydipsia Hypercalciuria Tinnitus Left ventricular hypertrophy Intracranial hemorrhage Metabolic acidosis Hirsutism Nausea Prolonged whole-blood clotting time Sleep myoclonus Polyuria Gastrointestinal angiodysplasia Prolonged bleeding after surgery Reduced factor VIII activity Joint hemorrhage Systemic lupus erythematosus Abnormality of the genitourinary system Mitral valve prolapse Intention tremor Neurodegeneration Abnormality of skin pigmentation Abnormality of coagulation Flank pain Abnormality of bone marrow cell morphology Fractures of the long bones Esodeviation Glucocortocoid-insensitive primary hyperaldosteronism Increased serum ferritin Bipolar affective disorder Osteomyelitis Abnormal platelet function Leukocytosis Reduced bone mineral density Spastic paraparesis Osteoarthritis Apraxia Abnormality of the cardiovascular system Parkinsonism Arthralgia of the hip Vascular calcification Generalized tonic-clonic seizures Decreased circulating renin level Adrenal hyperplasia Abnormal pyramidal sign Alkalosis Metabolic alkalosis Pallor Aggressive behavior Rigidity Difficulty walking Biliary tract obstruction Dystonia Hypertonia Vomiting Hydrocephalus Tremor Intellectual disability B-cell lymphoma Puberty and gonadal disorders Protuberant abdomen Leukemia Short attention span Abnormality of the optic nerve Fever Peripheral neuropathy Sensorineural hearing impairment Freckles in sun-exposed areas Menometrorrhagia Partial albinism Squamous cell carcinoma of the skin Abnormal thrombocyte morphology Ulcerative colitis Hematochezia Visual loss Ocular albinism Abnormality of visual evoked potentials Severe vision loss Iris hypopigmentation Hypopigmentation of hair Freckling Colitis Basal cell carcinoma Albinism Respiratory insufficiency Proptosis Melanocytic nevus Myocardial infarction Hemiplegia Venous thrombosis Cranial nerve paralysis Pancreatitis Purpura Conjunctivitis Skin ulcer Diplopia Subcutaneous nodule Sensory neuropathy Arthralgia Nephropathy Paresthesia Nausea and vomiting Papule Stroke Skin rash Retinopathy Paralysis Hydronephrosis Inflammation of the large intestine Melanoma Chronic otitis media Proximal muscle weakness Full cheeks Broad nasal tip Distal amyotrophy Hepatic failure Thin vermilion border Scarring Abnormality of the liver Hypertrophic cardiomyopathy Carcinoma Elevated hepatic transaminase Progressive muscle weakness Deeply set eye Hypoglycemia Thin upper lip vermilion Elevated serum creatine phosphokinase Obesity Midface retrusion Malar flattening Intellectual disability, mild Skeletal muscle atrophy Hypertriglyceridemia Decreased liver function Acanthosis nigricans Photophobia Abnormality of dental enamel Abnormality of the hair Amblyopia Long eyelashes Thickened skin Epidermal acanthosis Nevus Hypopigmentation of the skin Neutropenia Hyperkeratosis Hyperlipidemia Recurrent infections Blindness Cataract Ketotic hypoglycemia Periportal fibrosis Micronodular cirrhosis Skeletal myopathy Ketosis Recurrent sinusitis Progressive hearing impairment Glomerulonephritis Intestinal obstruction Hydrocele testis Sparse hair Highly arched eyebrow Thick vermilion border Falls Joint hypermobility Abnormality of the foot Pulmonic stenosis Hypermetropia Broad forehead Pectus carinatum Postnatal growth retardation Lymphoma Feeding difficulties in infancy Low-set, posteriorly rotated ears Joint laxity Macrotia High forehead Gastroesophageal reflux Polyhydramnios Prominent forehead Posteriorly rotated ears Triangular face Webbed neck Pectus excavatum Poor suck Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Overfolded helix Cubitus valgus Bilateral ptosis Failure to thrive in infancy Deep philtrum Esotropia Bicuspid aortic valve Torticollis Bilateral single transverse palmar creases Lymphedema Cafe-au-lait spot Mitral regurgitation Fine hair Low posterior hairline Hip dysplasia Wide intermamillary distance Inguinal hernia Abnormality of cardiovascular system morphology Diabetes insipidus Cerebral ischemia Pleuritis Subglottic stenosis Ocular pain Rhinorrhea Elevated C-reactive protein level Inflammatory abnormality of the eye Nasal obstruction Abnormality of the hypothalamus-pituitary axis Abnormality of the nose Concave nasal ridge Neuritis Angina pectoris Chronic obstructive pulmonary disease Tracheal stenosis Myositis Gangrene Wheezing Pericarditis Glomerulopathy Elevated erythrocyte sedimentation rate Granulomatosis Endocarditis Long philtrum Ptosis Atrial septal defect Short neck Frontal bossing Downslanted palpebral fissures Optic atrophy Macrocephaly Epicanthus Delayed speech and language development Low-set ears Cryptorchidism Ureteral stenosis Muscular hypotonia Abnormal facial shape Hypertelorism Microcephaly Prostatitis Recurrent intrapulmonary hemorrhage Scleritis Increased inflammatory response Episcleritis Abnormal oral cavity morphology Pulmonary artery vasoconstriction



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