Congestive heart failure, and Pneumonia

Diseases related with Congestive heart failure and Pneumonia

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


Top matches:

Medium match MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

Medium match CONGENITAL ATRANSFERRINEMIA


Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

Medium 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

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Other less relevant matches:

Medium match ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1


Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). Genetic Heterogeneity of Arterial CalcificationGeneralized arterial calcification of infancy-2 (GACI2 ) is caused by mutation in the ABCC6 gene (OMIM ) on chromosome 16p13.Homozygous or compound heterozygous mutation in the NT5E gene (OMIM ) can cause adult-onset of calcification of arteries and joints (OMIM ).

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 Is also known as iiac|idiopathic infantile arterial calcification|gaci|arteriopathy, occlusive infantile|arterial calcification, idiopathic infantile

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Hypertension
  • Respiratory distress


SOURCES: OMIM MENDELIAN

More info about ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1

Medium match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Medium match PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C

Medium 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

Medium match OSTEOGENESIS IMPERFECTA TYPE 2


Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

Medium match RIGID SPINE SYNDROME


Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Motor delay Cardiomyopathy Generalized hypotonia Respiratory failure Respiratory distress Fever Hypertension Short stature Global developmental delay

Rare Symptoms - Less than 30% cases


Flexion contracture Ventricular hypertrophy Cough Bronchiectasis Scoliosis Hyperalaninemia Pulmonary insufficiency Crackles Hearing impairment Increased variability in muscle fiber diameter Increased serum lactate Metabolic acidosis Carcinoma Lactic acidosis Small for gestational age Hypoglycemia Acidosis Arrhythmia Encephalopathy Platyspondyly Waddling gait Gowers sign Seizures Respiratory tract infection Cyanosis Muscular dystrophy Neoplasm Scarring Restrictive deficit on pulmonary function testing Arthritis Muscle fiber necrosis Skeletal muscle atrophy Right ventricular hypertrophy Cirrhosis Hyperlordosis Growth delay Proximal muscle weakness Facial palsy Atelectasis Difficulty running Combined immunodeficiency Neck flexor weakness Osteomyelitis Progressive proximal muscle weakness Cellulitis Achilles tendon contracture IgG deficiency Left ventricular failure Abnormality of female internal genitalia Upper limb muscle weakness Leukocytosis Skeletal muscle hypertrophy B-cell lymphoma Verrucae Periodontitis Muscle fiber atrophy Recurrent upper respiratory tract infections Carious teeth Increased endomysial connective tissue Left ventricular systolic dysfunction Calf muscle hypertrophy Abnormal macrophage morphology EMG: myotonic runs EMG: positive sharp waves EMG: myotonic discharges Absent muscle fiber gamma sarcoglycan Reduced muscle fiber alpha sarcoglycan Right ventricular dilatation Neutropenia Difficulty climbing stairs Lymphoma Decreased antibody level in blood Calf muscle pseudohypertrophy Tip-toe gait Otitis media Recurrent urinary tract infections Sinusitis Meningitis Recurrent bacterial infections Restrictive ventilatory defect Immunodeficiency Recurrent fractures Abnormality of female external genitalia Poor head control Hip contracture Spinal rigidity Generalized amyotrophy High pitched voice Congenital muscular dystrophy Nasal speech Elbow flexion contracture Hypoventilation Progressive muscle weakness Generalized muscle weakness Limb muscle weakness Arthrogryposis multiplex congenita Abnormality of the cerebral white matter Apnea Neck muscle weakness Malignant hyperthermia Rigidity Orthopnea Abnormality on pulmonary function testing Type 1 and type 2 muscle fiber minicore regions Abnormality of skeletal morphology Limited neck flexion Hamstring contractures Minicore myopathy Nocturnal hypoventilation Thoracolumbar scoliosis Peroneal muscle atrophy Reduced vital capacity Respiratory arrest Axial muscle weakness Abnormality of the rib cage Cor pulmonale Neonatal hypotonia Hyporeflexia Abnormality of bone marrow cell morphology Cataract Blue sclerae Coarctation of aorta Convex nasal ridge Premature birth EMG: myopathic abnormalities Abnormality of the dentition Microcephaly Bowing of the long bones Myelokathexis Bone marrow hypercellularity Hypersegmentation of neutrophil nuclei Tonsillitis Septic arthritis Folliculitis Thin skin Large fontanelles Myopathy Broad long bones Edema High palate Absent ossification of calvaria Crumpled long bones Beaded ribs Abnormality of calvarial morphology Multiple prenatal fractures Wormian bones Lens luxation Nonimmune hydrops fetalis Tibial bowing Metaphyseal widening Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Limb-girdle muscular dystrophy Increased serum pyruvate Scapular winging Hypocapnia Abnormal lung morphology Scaling skin Clubbing Pulmonary fibrosis Increased antibody level in blood Interstitial pulmonary abnormality Exertional dyspnea Polycythemia Pulmonary infiltrates Clubbing of fingers Right ventricular failure Alveolar cell carcinoma Reticular pattern on pulmonary HRCT Gastroesophageal reflux Honeycomb lung Ground-glass opacification on pulmonary HRCT Conductive hearing impairment Papule Genu valgum Myocardial infarction Left ventricular hypertrophy Growth abnormality Glomerulosclerosis Rickets Hypophosphatemia Pericardial effusion Ankylosis Pulmonary arterial hypertension Dyspnea Endocardial fibroelastosis Morphological abnormality of the central nervous system Pain Joint stiffness Joint hypermobility Hip dysplasia Osteoarthritis Pathologic fracture Arthropathy Irregular vertebral endplates Exostoses Beaking of vertebral bodies Hip osteoarthritis Hip pain Knee osteoarthritis Atransferrinemia Heberden's node Schmorl's node Anemia Fatigue Recurrent infections Hypothyroidism Pallor Abnormality of the liver Abnormality of the cardiovascular system Microcytic anemia Abnormality of the pancreas Hypochromic microcytic anemia Hypochromic anemia Hypophosphatemic rickets Arterial stenosis Frequent falls Cystinuria Vomiting Renal insufficiency Leukodystrophy Clonus Tachypnea Hyperammonemia CNS hypomyelination Athetosis Renal tubular acidosis Ketoacidosis Periventricular leukomalacia Dysgraphia Proximal renal tubular acidosis Macrocephaly Increased head circumference Necrotizing encephalopathy Periventricular cysts Chronic metabolic acidosis Congenital lactic acidosis Neuronal loss in the cerebral cortex Elevated serum creatine phosphokinase Unsteady gait Long face Inability to walk Macroglossia Lumbar hyperlordosis Broad-based gait Intellectual disability, severe Dysarthria Otosclerosis Optic atrophy Arteriosclerosis Angioid streaks of the fundus Coronary artery stenosis Vascular calcification Arterial calcification Generalized arterial calcification Coronary artery calcification Periarticular calcification Ataxia Spasticity Cognitive impairment Feeding difficulties Dystonia Decreased activity of mitochondrial respiratory chain Hypertrophic cardiomyopathy Poor speech Tachycardia Ascites Cardiomegaly Bradycardia Infantile muscular hypotonia Pleural effusion Aspiration pneumonia Ketonuria Wolff-Parkinson-White syndrome Sinus bradycardia Severe lactic acidosis Cardiac conduction abnormality



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