Edema, and Pneumonia

Diseases related with Edema and Pneumonia

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

Top matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Feeding difficulties
  • Edema
  • Blindness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3

Hemoglobin H disease is a subtype of alpha-thalassemia (see {604131}) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003).Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011).While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see {236750}.

HEMOGLOBIN H DISEASE; HBH Is also known as alpha-thalassemia, hemoglobin h type|hemoglobin h disease, deletional

Related symptoms:

  • Cognitive impairment
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOGLOBIN H DISEASE; HBH

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1 Is also known as cystic fibrosis-like syndrome

Related symptoms:

  • Dehydration
  • Abnormal lung morphology
  • Bronchiectasis
  • Sinusitis
  • Recurrent pneumonia


SOURCES: OMIM MESH MENDELIAN

More info about BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1

Other less relevant matches:

Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Abnormality of the skeletal system
  • Edema
  • Blindness


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 71; RP71

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm

Related symptoms:

  • Muscle weakness
  • Ventricular septal defect
  • Ventriculomegaly
  • Cardiomyopathy
  • Edema


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Respiratory distress
  • Edema
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Low match KAPOSI SARCOMA

Kaposi sarcoma (KS) is a rare human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops is various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.

KAPOSI SARCOMA Is also known as multiple idiopathic pigmented hemangiosarcoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about KAPOSI SARCOMA

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency|dcml|dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia|monoc

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Top 5 symptoms//phenotypes associated to Edema and Pneumonia

Symptoms // Phenotype % cases
Diarrhea Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Recurrent pneumonia Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Pneumonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Fever Immunodeficiency Lymphopenia

Rare Symptoms - Less than 30% cases

Recurrent infections Lymphadenopathy Ascites Lymphoma Decreased antibody level in blood Seizures Pancytopenia Dehydration Lymphoproliferative disorder Generalized lymphadenopathy Lymphedema Pulmonary arterial hypertension Encephalopathy Generalized hypotonia Abnormal lung morphology Papule Hepatomegaly Splenomegaly Hepatosplenomegaly Nephrotic syndrome Myelodysplasia Hemolytic anemia Blindness Myeloid leukemia Foot dorsiflexor weakness Tetraplegia Gliosis Spastic tetraplegia Hallucinations Severe vision loss Encephalitis Polyneuropathy Increased CSF protein Cerebral edema Abnormal posturing Abducens palsy Acute encephalopathy Abnormal muscle tone Necrotizing encephalopathy Polyneuritis Coma Monocytopenia Cough Bronchiolitis Recurrent mycobacterium avium complex infections Postural instability Coarctation of aorta Epidermal acanthosis Long eyelashes Pustule Enlarged kidney Recurrent bronchiolitis Pallor Intellectual disability Ataxia Spasticity Visual impairment Gait disturbance Hypertonia Neoplasm Rigidity Acute necrotizing encephalopathy Skin rash Fatigue Hypothyroidism B lymphocytopenia Verrucae Neoplasm by anatomical site Hearing impairment Recurrent viral infections Aplastic anemia Sensorineural hearing impairment Leukemia Susceptibility to herpesvirus Neutropenia Otitis media Recurrent otitis media Severe sensorineural hearing impairment Acute myeloid leukemia Bone marrow hypocellularity Spontaneous abortion Leukopenia Recurrent fungal infections Skin plaque Weight loss Sarcoma Abnormality of the liver Venous thrombosis Gastrointestinal hemorrhage Chronic myelomonocytic leukemia Severe viral infections Neoplasm of the skin Hemangioma Hypermelanotic macule Venous insufficiency Abnormal retinal morphology Macule Abnormality of the gastrointestinal tract Alveolar proteinosis Panniculitis Abnormality of the spleen Cellular immunodeficiency Skin nodule Abnormality of the lower limb Myofibrillar myopathy Respiratory distress Autoimmune hemolytic anemia Bronchomalacia Elevated sweat chloride Thrombocytopenia Autoimmunity Pleural effusion Elevated erythrocyte sedimentation rate Pericardial effusion Hodgkin lymphoma Chronic bronchitis IgG deficiency Pulmonary infiltrates Immune dysregulation Stomatitis Recurrent aphthous stomatitis Histiocytosis Hemophagocytosis Granulomatosis Immotile cilia Sinusitis Scoliosis Jaundice Feeding difficulties Neonatal hypotonia Proteinuria Increased serum lactate Status epilepticus Cerebral visual impairment Episodic vomiting Cognitive impairment Hydrops fetalis Bronchiectasis Cholelithiasis Microcytic anemia Abnormality of immune system physiology Decreased mean corpuscular volume Abnormal hemoglobin Hypersplenism Reduced alpha/beta synthesis ratio Hemoglobin H Dysgammaglobulinemia Delayed speech and language development Failure to thrive Endocardial fibroelastosis Cardiomegaly Eosinophilia Atrioventricular block Heart murmur Myocardial fibrosis Restrictive cardiomyopathy Abnormal myocardium morphology Pulmonary edema Skeletal myopathy Inability to walk Abnormality of the mitochondrion Abnormal left ventricle morphology Abnormality of cardiovascular system physiology Histiocytoid cardiomyopathy Abnormal ventricular filling Abnormal cardiac atrium morphology Abnormality of the pulmonary veins Abnormal mitochondrial number Syncope Dyspnea Abnormality of the skeletal system Attenuation of retinal blood vessels Obesity Rod-cone dystrophy Polydactyly Elevated hepatic transaminase Nyctalopia Optic disc pallor Pancreatitis Hypercholesterolemia Drusen Abnormality of metabolism/homeostasis Epiretinal membrane Macular hole Muscle weakness Ventricular septal defect Ventriculomegaly Cardiomyopathy Myopathy Dilatation Abnormal natural killer cell morphology


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Colon cancer, related diseases and genetic alterations Congestive heart failure and Abnormality of the kidney, related diseases and genetic alterations Tremor and Hodgkin lymphoma, related diseases and genetic alterations