Congestive heart failure, and Gastroesophageal reflux

Diseases related with Congestive heart failure and Gastroesophageal reflux

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


Top matches:

High match IDIOPATHIC PULMONARY FIBROSIS


Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

IDIOPATHIC PULMONARY FIBROSIS Is also known as cfa|uip|usual interstitial pneumonia|interstitial pneumonitis, usual|idiopathic pulmonary fibrosis, familial|cryptogenic fibrosing alveolitis|fibrosing alveolitis, cryptogenic|fibrocystic pulmonary dysplasia

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC PULMONARY FIBROSIS

High 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

High match SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME


Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High 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

High match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

High match GLYCOGEN STORAGE DISEASE II; GSD2


Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

High match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

High match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

High match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

High match GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Top 5 symptoms//phenotypes associated to Congestive heart failure and Gastroesophageal reflux

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Dilatation Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dyspnea Microcephaly Scoliosis Arrhythmia Generalized hypotonia Pulmonary arterial hypertension Pain Respiratory failure Fever Hypertension Respiratory insufficiency Myopia Atrial septal defect Feeding difficulties Vomiting Diarrhea Abnormality of the skin Stroke Edema Hypoglycemia Thrombocytopenia Cognitive impairment Ptosis Cryptorchidism Hearing impairment Micrognathia Dysphagia Kyphosis Growth delay Cardiomyopathy Headache Splenomegaly Flexion contracture Cardiac arrest Respiratory distress Malar flattening Fatigue Muscular hypotonia Hypertelorism Hypertrophic cardiomyopathy Exertional dyspnea Muscle weakness Hernia Redundant skin

Rare Symptoms - Less than 30% cases


Deeply set eye Nystagmus Macrocephaly Ventricular septal defect Long face Short nose Anemia Pancytopenia Sensorineural hearing impairment Ataxia Sleep apnea Short stature Anorexia Pyloric stenosis Aortic aneurysm Rocker bottom foot Abnormal bleeding Aortic root aneurysm Amenorrhea Short neck Lethargy Visual loss Arachnodactyly Abnormal cardiac septum morphology Pallor Motor delay Amblyopia Abnormal heart morphology Intrauterine growth retardation Myelodysplasia Macrotia Posteriorly rotated ears Abdominal pain Broad forehead Low-set ears Polyneuropathy Polyhydramnios Abnormal facial shape Intellectual disability, mild Blepharophimosis Neoplasm Aortic regurgitation Heart murmur Osteolysis Abnormality of cardiovascular system morphology Pectus excavatum Myopathy Kyphoscoliosis Constipation Nonimmune hydrops fetalis Apnea Recurrent respiratory infections Aspiration Osteopenia EEG abnormality High, narrow palate Pulmonary infiltrates Poor suck Ventricular hypertrophy Interstitial pulmonary abnormality Dental malocclusion Pulmonary fibrosis Clubbing Cardiomegaly Abnormal lung morphology Cyanosis Cirrhosis Cough Abnormality of the cardiovascular system Decreased body weight Elbow flexion contracture Telangiectasia of the skin Clinodactyly Downslanted palpebral fissures Midface retrusion Exotropia Bilateral ptosis Aortic dissection Dilatation of the cerebral artery Avascular necrosis of the capital femoral epiphysis Brain atrophy Inguinal hernia Hepatomegaly Craniosynostosis Arnold-Chiari type I malformation Emphysema High palate Cataract Failure to thrive Depressed nasal bridge Azoospermia Low posterior hairline Radial deviation of finger Coarctation of aorta Wide intermamillary distance Webbed neck Primary amenorrhea Clumsiness Leukemia Cubitus valgus Abdominal distention Facial asymmetry Failure to thrive in infancy Triangular face Bruising susceptibility Pterygium Lymphedema Pulmonic stenosis Patent foramen ovale Hypotrichosis Arnold-Chiari malformation Elevated alkaline phosphatase Plagiocephaly Bicuspid aortic valve Left ventricular hypertrophy Incisional hernia Sparse hair Slender finger Low back pain Pulmonary edema Spondylolisthesis Genu recurvatum Thoracic kyphosis Obstructive sleep apnea Meningocele Arachnoid cyst Hypoplasia of the iris Subarachnoid hemorrhage Megalocornea Striae distensae Abnormality of the sternum Pneumothorax Reduced subcutaneous adipose tissue Restrictive ventilatory defect Disproportionate tall stature Decreased muscle mass Open bite Large for gestational age Epiphora Hammertoe Congenital contracture Ectopia lentis Back pain Narrow palate Spontaneous abortion Homocystinuria Hypoplasia of the musculature Postnatal growth retardation Anisometropia Low-set, posteriorly rotated ears Proptosis Hypogonadism Rod-cone dystrophy Patent ductus arteriosus Brachydactyly Epicanthus Inferior oblique muscle overaction Medial rotation of the medial malleolus Mitral annular calcification Pulmonary artery dilatation Leukocytosis Increased axial length of the globe Overjet Ascending tubular aorta aneurysm Spontaneous pneumothorax Cystic medial necrosis Microspherophakia Hypertropia Flat cornea Hypopnea Premature osteoarthritis Protrusio acetabuli Dural ectasia Tricuspid valve prolapse Endocarditis Thoracic aortic aneurysm Overbite Abnormality of the coagulation cascade Postductal coarctation of the aorta Abnormality of color vision Opisthotonus Aspiration pneumonia Increased serum ferritin Hepatocellular carcinoma Epileptic spasms Limb hypertonia Protuberant abdomen Atrophy/Degeneration affecting the brainstem Poor eye contact Congenital ichthyosiform erythroderma Bulbar palsy Hypokinesia Petechiae Abnormality of coagulation Menorrhagia Hypomagnesemia Athetosis Akinesia Hyponatremia Ectropion Abnormality of the thorax Portal hypertension Intracranial hemorrhage Cholelithiasis Hyperammonemia Leukopenia Oculomotor apraxia Purpura Hyperbilirubinemia Fetal akinesia sequence Bulbar signs Hypocalcemia Abducens palsy Slowed horizontal saccades Cardiac valve calcification Abnormal platelet aggregation Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs CSF pleocytosis Orthopnea Laryngeal stridor Giant cell hepatitis Intestinal bleeding Spontaneous hematomas Subcutaneous hemorrhage Axial dystonia Trismus Hemophagocytosis Eclabion Abnormal pattern of respiration Histiocytosis Generalized osteosclerosis Restrictive deficit on pulmonary function testing Abnormality of the spleen Hypoxemia Abnormality of the larynx Multiple myeloma Congenital nonbullous ichthyosiform erythroderma Supranuclear gaze palsy Slow saccadic eye movements Knee flexion contracture Bone pain Neurofibromas Asymmetry of the thorax Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Multiple lentigines Preductal coarctation of the aorta Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Drusen Malignant hyperthermia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Nasogastric tube feeding Spasticity Progressive microcephaly Abnormality of eye movement Hydrops fetalis Thickened skin Cholestasis Progressive neurologic deterioration Epistaxis Decreased fetal movement Syncope Generalized myoclonic seizures Ascites Pulmonary hypoplasia Hepatic failure Nausea Lymphadenopathy Ophthalmoplegia Hypertonia Corneal opacity Irritability Feeding difficulties in infancy Developmental regression Elevated hepatic transaminase Rigidity Hepatosplenomegaly Jaundice Umbilical hernia Myoclonus Dementia Delayed skeletal maturation Encephalopathy Dystonia Narrow face Flat face Tall stature Retinal dystrophy Macrocytic anemia Secondary amenorrhea Hyperglycemia Polycystic ovaries Cone/cone-rod dystrophy Aminoaciduria Hoarse voice Situs inversus totalis Bilateral sensorineural hearing impairment Aciduria Neutropenia Retinal degeneration Abdominal situs inversus Paresthesia Diabetes mellitus Optic atrophy Enlarged cerebellum Aplasia/Hypoplasia of the mandible Fibular bowing Metaphyseal chondrodysplasia Cloverleaf skull Central apnea Megalencephaly Abnormality of the clavicle Megaloblastic anemia Abnormality of the basal ganglia Femoral bowing Coxa valga Arterial stenosis Abnormal myocardium morphology Myocarditis Esophagitis Cardiorespiratory arrest Hiatus hernia Pulmonary artery stenosis Prematurely aged appearance Keratoconus Hyperextensible skin Coxa vara Thin skin Sideroblastic anemia Myocardial infarction Short palpebral fissure Specific learning disability Hip dysplasia Joint hyperflexibility Dilated cardiomyopathy Hip dislocation Clinodactyly of the 5th finger Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Tibial bowing Mesomelia Median cleft lip and palate Alveolar cell carcinoma Malabsorption Carious teeth Autoimmunity Arthritis Arthralgia Weight loss Renal insufficiency Ground-glass opacification on pulmonary HRCT Honeycomb lung Reticular pattern on pulmonary HRCT Hypocapnia Crackles Telangiectasia Pulmonary insufficiency Right ventricular failure Clubbing of fingers Polycythemia Increased antibody level in blood Scaling skin Bronchiectasis Scarring Respiratory tract infection Carcinoma Pneumonia Nausea and vomiting Skin ulcer Thoracic hypoplasia Skeletal dysplasia Acanthosis nigricans Wide anterior fontanel Rhizomelia Epidermal acanthosis Lumbar hyperlordosis High myopia Generalized-onset seizure Otitis media Micromelia Platyspondyly Severe global developmental delay Severe short stature Scleroderma Intellectual disability, severe Hydrocephalus Hypoplasia of the corpus callosum Frontal bossing Abnormal bowel sounds Narrow foramen obturatorium Hypertensive crisis Decreased urine output Dyspareunia Oliguria Osteolytic defects of the phalanges of the hand Xerostomia Femoral hernia Long palm Dental crowding Short toe Syringomyelia Long nose Combined immunodeficiency Unilateral renal agenesis Anophthalmia Language impairment Hand polydactyly Microretrognathia Narrow palpebral fissure Hemivertebrae Pointed chin Psychosis Severe intrauterine growth retardation Congenital diaphragmatic hernia Renal agenesis Underdeveloped nasal alae Renal cyst Tapered finger Small hand Smooth philtrum Talipes Attention deficit hyperactivity disorder Coloboma Wide mouth Severe combined immunodeficiency Multiple renal cysts Abnormality of the pinna Camptodactyly Mitral regurgitation Mitral valve prolapse Overgrowth Esotropia Chest pain Retinal detachment Joint hypermobility Peripheral axonal neuropathy Dolichocephaly Pectus carinatum Hyperlordosis Joint laxity Missing ribs Pes planus Retrognathia Glaucoma Pes cavus Abnormality of the skeletal system Peripheral neuropathy Absent nasal bridge Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Autistic behavior Autism Keratoglobus Paralysis Macular degeneration Scapular winging EMG abnormality Progressive muscle weakness Type II diabetes mellitus Peripheral demyelination Urinary incontinence Macroglossia Generalized muscle weakness Limb muscle weakness Muscular dystrophy Myalgia Respiratory insufficiency due to muscle weakness Proximal muscle weakness Conductive hearing impairment Difficulty walking Acidosis Elevated serum creatine phosphokinase Areflexia Abnormality of metabolism/homeostasis Gait disturbance Skeletal muscle atrophy Abnormality of the zygomatic bone Abnormal carotid artery morphology Atherosclerosis Delayed gross motor development Micropenis Cleft palate Polydactyly Hyperactivity Obesity Recurrent infections Microphthalmia Immunodeficiency Behavioral abnormality Anteverted nares Ventriculomegaly Wide nasal bridge Delayed speech and language development Firm muscles Atrioventricular block Abnormal CNS myelination Shortened PR interval Abdominal wall muscle weakness Increased muscle fatiguability Diaphragmatic paralysis Pelvic girdle muscle weakness Stroke-like episode Wolff-Parkinson-White syndrome Progressive proximal muscle weakness Difficulty running Dysphasia Nasal speech EEG with temporal sharp waves



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Hypertriglyceridemia, related diseases and genetic alterations Congestive heart failure and Neoplasm of the pancreas, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more