Congestive heart failure, and Proteinuria

Diseases related with Congestive heart failure and Proteinuria

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

Top matches:

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Related symptoms:

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

Other less relevant matches:

Low match CEDNIK SYNDROME

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Low match COG7-CDG

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

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

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hematuria Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Diarrhea Growth delay Fatigue Ataxia Anemia Tremor Pancytopenia Malabsorption Dementia Short stature Arrhythmia Hypertension Myopia Sensorineural hearing impairment Abnormality of eye movement Weight loss Depressivity Pallor Abnormality of skin pigmentation Hearing impairment Lymphadenopathy Glomerulosclerosis Pulmonary arterial hypertension Corneal opacity Osteopenia Scoliosis Interstitial pulmonary abnormality Abnormal myocardium morphology Kyphosis Fever Microcephaly Hepatosplenomegaly Renal insufficiency Arthritis Abdominal pain Retinopathy Muscular hypotonia Abnormal facial shape Hepatomegaly

Rare Symptoms - Less than 30% cases

Nephropathy Neutropenia Atherosclerosis Anorexia Cholestasis Jaundice Strabismus Cognitive impairment Motor delay Short neck Headache Hip dislocation Edema Difficulty walking Feeding difficulties Generalized hypotonia Hydrocephalus Nystagmus Recurrent infections Abnormal heart valve morphology Leukocytosis Hypoalbuminemia Meningitis Migraine Respiratory insufficiency Cirrhosis Splenomegaly Avascular necrosis of the capital femoral epiphysis Increased antibody level in blood Petechiae Pericardial effusion Exertional dyspnea Aseptic necrosis Protuberant abdomen Hepatocellular carcinoma Vertebral compression fractures Supranuclear gaze palsy Multiple myeloma Abnormality of the spleen Clubbing Generalized osteosclerosis Spontaneous hematomas Orthopnea Erlenmeyer flask deformity of the femurs Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Cardiac valve calcification Horizontal supranuclear gaze palsy Vomiting Lymphopenia Thoracic kyphosis Menorrhagia Abnormality of the thorax Delayed skeletal maturation Syncope Recurrent respiratory infections Myoclonus Osteoporosis Dyspnea Delayed puberty Polyneuropathy Ascites Abdominal distention Abnormal bleeding Generalized myoclonic seizures Cyanosis Portal hypertension Epistaxis Progressive neurologic deterioration Decreased body weight Bone pain Increased bone mineral density Osteolysis Oculomotor apraxia Leukopenia Reduced bone mineral density Increased susceptibility to fractures Cholelithiasis Nephrotic syndrome Mental deterioration Pulsatile tinnitus Elevated urinary norepinephrine Retinal degeneration Unsteady gait Elevated urinary epinephrine Ophthalmoplegia Abnormality of the kidney Paraganglioma of head and neck Hypertrophic cardiomyopathy Elevated urinary dopamine Positive regitine blocking test Abnormal retinal morphology Paroxysmal vertigo Cardiomyopathy Optic atrophy Visual impairment Ptosis Congenital cataract Cerebral hemorrhage Cataract Pigmentary retinopathy Glomerulopathy Depressed nasal bridge Cranial nerve compression Aniridia Episodic abdominal pain Vocal cord paralysis Dysphonia Flushing Palpitations Paraganglioma Sinus tachycardia Recurrent paroxysmal headache Conductive hearing impairment Adrenal pheochromocytoma Episodic paroxysmal anxiety Hypertensive retinopathy Panic attack Hypertension associated with pheochromocytoma Chest pain Episodic hyperhidrosis Extraadrenal pheochromocytoma Nausea Muscle weakness Hypercalcemia Areflexia Long face Abnormality of the dentition Macrotia Abnormality of the eye Stroke Intellectual disability, severe Vertigo Neurodegeneration Edema of the lower limbs Increased serum ferritin Bipolar affective disorder Progressive cerebellar ataxia Gingival bleeding Abnormal pyramidal sign Bilateral sensorineural hearing impairment Type II diabetes mellitus Pathologic fracture External ophthalmoplegia Ragged-red muscle fibers Generalized tonic-clonic seizures Abnormal T cell morphology Aggressive behavior Flank pain Vascular calcification Myopathy Constipation Abnormal platelet function Arthralgia of the hip Encephalopathy Abnormality of bone marrow cell morphology Constriction of peripheral visual field Diabetes mellitus Fractures of the long bones Rigidity Hypersplenism Esodeviation Periorbital edema Myalgia Abnormality of coagulation Aplasia/Hypoplasia of the cerebellum Osteomyelitis Protein-losing enteropathy Bulbar palsy Slow saccadic eye movements Apraxia Hypercoagulability Abnormality of the cardiovascular system Restrictive deficit on pulmonary function testing Astrocytosis Lower limb hyperreflexia Abnormal thrombosis Aortic valve calcification Abnormal saccadic eye movements Mitral valve calcification Abnormality of ion homeostasis Abnormality of the acoustic reflex Parkinsonism Abnormality of the sternum Restrictive ventilatory defect Biliary tract obstruction Abnormality of lipid metabolism Hyperglycemia Bundle branch block Vestibular dysfunction Macular dystrophy Progressive sensorineural hearing impairment Retinal atrophy Spastic paraparesis Opisthotonus Left bundle branch block Abnormal chorioretinal morphology Hepatic fibrosis Intention tremor Osteoarthritis Hydrops fetalis Pulmonary fibrosis Dystonia Puberty and gonadal disorders Encephalomalacia Emphysema Transient ischemic attack Abnormality of the vasculature Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Focal segmental glomerulosclerosis Ovoid vertebral bodies Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Encephalitis Chronic kidney disease Moyamoya phenomenon Disproportionate short-trunk short stature Azoospermia Right ventricular cardiomyopathy Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Cellular immunodeficiency B-cell lymphoma Abnormal immunoglobulin level Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder Coarse hair Hyperlipidemia Hypertonia Pneumonia Platyspondyly Autoimmunity Scarring Hyperlordosis Developmental regression Thin upper lip vermilion Hypothyroidism Nephrosclerosis Stage 5 chronic kidney disease Immunodeficiency Lateral displacement of the femoral head Cerebellar atrophy Intrauterine growth retardation Gait disturbance Dysarthria Dysphagia Astigmatism Bulbous nose Opacification of the corneal stroma Intellectual disability, profound Bone marrow hypocellularity Premature arteriosclerosis Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Fine hair Lumbar hyperlordosis Abnormal cerebellum morphology Microdontia Decreased testicular size Waddling gait Lymphoma Premature birth Anterior pituitary dysgenesis Gliosis Brain atrophy Polymicrogyria Renal cell carcinoma Skin rash Decreased liver function Mitral regurgitation Myocardial infarction Hepatitis Renal artery stenosis Episodic hypertension Nausea and vomiting Erythema Vasculitis Respiratory tract infection Irritability Hypertelorism Arthralgia Dilatation Peripheral neuropathy Wide nasal bridge Mild proteinuria Albuminuria Conjunctivitis Areflexia of lower limbs Pericarditis Inflammatory abnormality of the eye Recurrent pharyngitis Cafe-au-lait spot Allergy Myocarditis Tubulointerstitial nephritis Aortic root aneurysm Acute kidney injury Hemangioma Cranial nerve paralysis Elevated erythrocyte sedimentation rate Raynaud phenomenon Coronary artery atherosclerosis Neoplasm of the endocrine system Hyponatremia Scaling skin Pheochromocytoma Ischemic stroke Abnormal glycosylation Premature skin wrinkling Cheilitis Abnormality of peripheral nerve conduction Micrognathia Dolichocephaly Ichthyosis Optic disc hypoplasia Diffuse palmoplantar keratoderma Perisylvian polymicrogyria Abnormal corpus callosum morphology Cortical dysplasia Prominent nasal bridge Palmoplantar hyperkeratosis Abnormality of vision Poor head control Intellectual disability, progressive Short chin Progressive microcephaly Pachygyria Depressed nasal ridge Severe global developmental delay Abnormality of the skeletal system Distal arthrogryposis Flat face Inverted nipples Protruding tongue Abnormality of immune system physiology Adducted thumb Downslanted palpebral fissures Dehydration Delayed myelination Thick vermilion border Arthrogryposis multiplex congenita Hypogonadism Abnormality of the liver Abnormality of the pinna Elevated hepatic transaminase Hypoplasia of the corpus callosum Abnormal heart morphology Cerebral atrophy Behavioral abnormality Agenesis of corpus callosum Elevated C-reactive protein level Synovitis Bruising susceptibility Megaloblastic anemia Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Cor pulmonale Thromboembolism Methylmalonic acidemia Disproportionate tall stature Apathy Ectopia lentis Hemiplegia Slurred speech Retinal capillary hemangioma Abnormality of retinal pigmentation Recurrent urinary tract infections Atrophy of the spinal cord Chronic hemolytic anemia Psychosis Decreased methylmalonyl-CoA mutase activity Neurological speech impairment EEG abnormality Elevated calcitonin Palmoplantar keratoderma Spasticity Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Hypomethioninemia Abnormality of macular pigmentation Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Broad-based gait Abnormality of extrapyramidal motor function Ascending tubular aorta aneurysm Abnormality of nail color Tachycardia Abnormal gallbladder morphology Aseptic leukocyturia Strawberry tongue Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Abnormal emotion/affect behavior Pyuria Arthralgia/arthritis Coronary artery aneurysm Carcinoma Cervical lymphadenopathy CSF pleocytosis Conjunctival hyperemia Abnormal pericardium morphology Arteritis Glossitis Abnormal oral mucosa morphology Cholecystitis Low-set ears Hyperhidrosis Memory impairment Smooth philtrum Aciduria Urinary incontinence Metabolic acidosis Hepatic steatosis Hemolytic anemia Joint hypermobility Paresthesia Confusion Lower limb muscle weakness Cerebral cortical atrophy Lethargy Feeding difficulties in infancy Arachnoid hemangiomatosis Neoplasm High forehead Acidosis Reduced visual acuity Gait ataxia Sleep myoclonus


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