Congestive heart failure, and Recurrent respiratory infections

Diseases related with Congestive heart failure and Recurrent respiratory infections

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


Top matches:

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

Low match POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1


Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Low match WHIM SYNDROME


WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WHIM SYNDROME

Mendelian

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

Learn more

Other less relevant matches:

Low match SYSTEMIC PRIMARY CARNITINE DEFICIENCY


Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Low match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Low 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

Low match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Low match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD


The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

Low match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Low match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Recurrent respiratory infections

Symptoms // Phenotype % cases
Respiratory tract infection Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Respiratory distress Respiratory failure Dilated cardiomyopathy Growth delay Ventricular hypertrophy Immunodeficiency Pain Elevated hepatic transaminase Hypertrophic cardiomyopathy Hepatomegaly Seizures Recurrent infections Skeletal myopathy Elevated serum creatine phosphokinase Hypoglycemia Anemia Feeding difficulties Hyporeflexia Proximal muscle weakness Sinusitis Fatigue Edema Otitis media Myalgia Muscular hypotonia Cardiomegaly Progressive muscle weakness Abnormality of the liver

Rare Symptoms - Less than 30% cases


Recurrent upper respiratory tract infections Combined immunodeficiency Decreased antibody level in blood Lymphoma Neutropenia Arthritis Verrucae Bronchiectasis Hepatic steatosis Vomiting Limb muscle weakness Clubbing Recurrent sinusitis Decreased liver function Hepatic failure Thin vermilion border Respiratory insufficiency Generalized muscle weakness Diaphragmatic paralysis Decreased nerve conduction velocity Respiratory insufficiency due to muscle weakness Hemolytic anemia Areflexia Feeding difficulties in infancy Splenomegaly Skeletal muscle atrophy Hyperreflexia Peripheral neuropathy Motor delay Global developmental delay Hypoketotic hypoglycemia Easy fatigability Hyperammonemia Coma Lethargy Carcinoma Arrhythmia Pneumonia Lymphadenopathy Dyspnea Cough Cirrhosis Hypotension Cyanosis Epistaxis Abnormal lung morphology Fever Right ventricular hypertrophy Right ventricular failure Scoliosis Hepatosplenomegaly Paralysis Hearing impairment Neoplasm Leukocytosis Peripheral axonal neuropathy Lactic acidosis Distal sensory impairment Metabolic acidosis Small for gestational age Thrombocytopenia Gastritis Sensory impairment Pigmentary retinopathy Late-onset distal muscle weakness Hydrops fetalis Cardiac arrest Tachypnea Muscle cramps Pancytopenia IgM deficiency Recurrent myoglobinuria Hypothyroidism Respiratory failure requiring assisted ventilation Acute hepatic steatosis Exercise-induced rhabdomyolysis Prenatal maternal abnormality Immune dysregulation Diabetes mellitus Distal muscle weakness Abnormality of the amniotic fluid Progressive peripheral neuropathy Hypoparathyroidism Myoglobinuria Rhabdomyolysis Tricuspid regurgitation Retinopathy Acidosis Difficulty walking Pulmonary artery atresia Dolichocephaly Pulmonic stenosis Tetralogy of Fallot Hemiparesis Increased body weight Heart murmur Preauricular pit Polycythemia Underdeveloped supraorbital ridges Poor appetite Hyperventilation Double outlet right ventricle Truncus arteriosus Breathing dysregulation Flexion contracture Interrupted aortic arch Follicular hyperplasia Abnormal nasal morphology Endocarditis Overriding aorta Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Diarrhea Generalized lymphadenopathy Absence of the pulmonary valve Ventriculomegaly Interstitial pneumonitis Renal insufficiency Dilatation Cor pulmonale High palate Inflammatory abnormality of the skin Myotonia Interstitial pulmonary abnormality Infantile muscular hypotonia Inflammation of the large intestine EMG: myopathic abnormalities Abnormal intestine morphology Purpura Conjunctivitis Congenital contracture Broad forehead Akinesia Type I diabetes mellitus Chronic diarrhea Recurrent otitis media Fetal distress Mask-like facies Knee flexion contracture Myopathic facies Mildly elevated creatine phosphokinase Bulbar palsy Spinal rigidity Thin ribs Hypoventilation EMG: neuropathic changes Facial diplegia Neck flexor weakness Fetal akinesia sequence Nemaline bodies Type 1 muscle fiber predominance Breech presentation Slender build Colitis Foot dorsiflexor weakness Brain neoplasm Neonatal hypotonia Dysphagia Abnormality of the skeletal system Hypertonia Villous atrophy Clubbing of fingers Chronic lung disease Autoimmunity Percussion myotonia Pectus excavatum Autoimmune thrombocytopenia Pes cavus Polyhydramnios Retrognathia Rigidity Facial palsy Narrow face Apnea Hyperlordosis Arthrogryposis multiplex congenita Fatigable weakness Genu valgum Asthma Falls Pulmonary hypoplasia Waddling gait Decreased fetal movement Frequent falls IgA deficiency Joint contracture of the hand Autoimmune hemolytic anemia Exocrine pancreatic insufficiency Nonspherocytic hemolytic anemia Abnormal cardiac septum morphology Hypersegmentation of neutrophil nuclei Meningitis Recurrent bacterial infections Osteomyelitis Cellulitis IgG deficiency Periodontitis B-cell lymphoma Atelectasis Abnormality of female internal genitalia Abnormality of female external genitalia Abnormality of bone marrow cell morphology Folliculitis Septic arthritis Tonsillitis Bone marrow hypercellularity Carious teeth Myelokathexis Encephalopathy Abdominal pain Irritability Confusion Clumsiness Left ventricular hypertrophy Bradycardia Delayed gross motor development Decreased muscle mass Neck muscle weakness Ketonuria Excessive daytime somnolence Recurrent hypoglycemia Recurrent urinary tract infections Pharyngitis Endocardial fibroelastosis Abnormal tricuspid valve morphology Vertigo Ascites Chest pain Sudden cardiac death Pulmonary arterial hypertension Palpitations Telangiectasia Hoarse voice Scleroderma Hemoptysis Acrocyanosis Capillary hemangioma Edema of the lower limbs Abnormal thrombosis Spontaneous, recurrent epistaxis Gastrointestinal inflammation Ptosis Pyelonephritis Recurrent pharyngitis Severe failure to thrive Progressive proximal muscle weakness Psoriasiform dermatitis Eczema Pulmonary artery vasoconstriction Increased pulmonary vascular resistance Pulmonary aterial intimal fibrosis Pulmonary arterial medial hypertrophy Arterial intimal fibrosis Elevated right atrial pressure Pulmonary capillary hemangiomatosis Hemangiomatosis Decreased plasma carnitine Fasting hypoglycemia Proptosis Hyperlipidemia Depressed nasal bridge Anteverted nares Intellectual disability, mild Malar flattening Midface retrusion Obesity Thin upper lip vermilion Deeply set eye Scarring Distal amyotrophy Broad nasal tip Full cheeks Hypertriglyceridemia Hepatic fibrosis Progressive hearing impairment Central nervous system degeneration Ketosis Recurrent corneal erosions Micronodular cirrhosis Periportal fibrosis Ketotic hypoglycemia Cryptorchidism Brachydactyly Intrauterine growth retardation Ventricular septal defect Abnormality of cardiovascular system morphology Clinodactyly Patent ductus arteriosus Abnormal heart morphology Clinodactyly of the 5th finger Short stature Congenital hemolytic anemia Generalized tonic-clonic seizures with focal onset Pallor Acute encephalopathy Reye syndrome-like episodes Impaired gluconeogenesis Reduced muscle carnitine level Irregular respiration Decreased carnitine level in liver Spasticity Tremor Gait disturbance Dystonia Kyphosis Cerebral atrophy Babinski sign Jaundice Abnormal pyramidal sign Chronic hemolytic anemia Macrocytic anemia Abnormal posturing Normochromic anemia Hypertension Cholecystitis Normocytic anemia Abnormality of immune system physiology Cholelithiasis Unsteady gait Involuntary movements Intention tremor Oligohydramnios Optic disc pallor Neuronal loss in central nervous system Dyskinesia Burkitt lymphoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Retinal detachment, related diseases and genetic alterations Intellectual disability, severe and Cirrhosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more