Edema, and Bronchiectasis

Diseases related with Edema and Bronchiectasis

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

Top matches:

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

Isolated hyperchlorhidrosis is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011).

Related symptoms:

  • Failure to thrive
  • Feeding difficulties
  • Dilatation
  • Abnormality of metabolism/homeostasis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about HYPERCHLORHIDROSIS, ISOLATED; HYCHL

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Other less relevant matches:

Medium match RIN2 SYNDROME

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Medium match CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Medium match SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Low match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3 Is also known as cystic fibrosis-like syndrome

Related symptoms:

  • Bronchiectasis
  • Chronic bronchitis


SOURCES: MESH OMIM MENDELIAN

More info about BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3

Top 5 symptoms//phenotypes associated to Edema and Bronchiectasis

Symptoms // Phenotype % cases
Dehydration Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Recurrent pneumonia Uncommon - Between 30% and 50% cases
Cough Uncommon - Between 30% and 50% cases
Scarring Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Alopecia Hepatomegaly Respiratory distress Malabsorption Fever Abnormal lung morphology Diarrhea Elevated sweat chloride Sinusitis Dilatation

Rare Symptoms - Less than 30% cases

Increased antibody level in blood Diabetes mellitus Vomiting Epidermal acanthosis Enlarged kidney Hypertension Pain Growth delay Hypergonadotropic hypogonadism Upper eyelid edema Nephrocalcinosis Gingival overgrowth Overgrowth Ichthyosis Pes planus Hypogonadism Hernia Delayed puberty Generalized lymphadenopathy Azoospermia Anemia Osteolysis Hyperpigmentation of the skin Lymphadenopathy Papule Dyspnea Splenomegaly Skin nodule Pneumothorax Elevated erythrocyte sedimentation rate Short stature Exocrine pancreatic insufficiency Hemoptysis Pulmonary fibrosis Emphysema Portal hypertension Hypercalciuria Brachydactyly Hypothyroidism Recurrent respiratory infections Infertility Arthritis Recurrent infections Immunodeficiency Decreased antibody level in blood Fatigue Epicanthus High palate Pneumonia Chronic bronchitis Bronchitis Hypertelorism Hyperkeratosis Upper airway obstruction Global developmental delay Hyperreflexia Flexion contracture Ptosis Sensorineural hearing impairment Hearing impairment Generalized hypotonia Abnormal trabecular meshwork morphology Frontal bossing Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Maculopapular exanthema Abnormality of the nasal mucosa Increased T cell count Wide nasal bridge Ventricular septal defect Heart block Patent ductus arteriosus Posteriorly rotated ears Severe short stature Keratoconjunctivitis sicca Delayed skeletal maturation Optic neuropathy Abnormal heart morphology Clinodactyly Joint swelling Intellectual disability, mild Atrial septal defect Hydrocephalus Anteverted nares Ventriculomegaly Uveitis Abnormal cardiac ventricular function Parotitis Macular edema Vitreous hemorrhage Skin plaque Bronchomalacia Erythema nodosum Abnormality of the cerebrospinal fluid Cystoid macular edema Chylothorax Abnormality of the gastrointestinal tract Abnormality of the adrenal glands Abnormality of the pleura Anterior synechiae of the anterior chamber Night sweats Feeding difficulties Bone cyst Immune dysregulation Abnormality of the lymph nodes Chorioretinitis Abnormal liver parenchyma morphology Abnormality of skin morphology Non-caseating epithelioid cell granulomatosis Increased CSF protein Abnormality of T cell physiology Enlargement of parotid gland Hypothermia Posterior vitreous detachment Abnormal reproductive system morphology Dacryocystitis Vitritis Vitreous floaters Abnormal conjunctiva morphology Iridocyclitis Abnormal salivary gland morphology Anterior uveitis Tubulointerstitial nephritis Recurrent enteroviral infections Proptosis Micropenis Aspiration pneumonia Reticulocytopenia Histiocytosis Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Abnormal eyebrow morphology Abnormality of cardiovascular system physiology Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Hallux valgus Chronic rhinitis Pancreatic hypoplasia Hyperglycemia Bilateral camptodactyly Bronchiolitis Pustule Long eyelashes Coarctation of aorta Postural instability Seborrheic keratosis Retroperitoneal fibrosis Cervical lymphadenopathy Broad finger Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Corneal arcus Hyperplasia of the maxilla Leukocytosis Stridor Hyperthyroidism Pectus carinatum Full cheeks Recurrent fractures Polyneuropathy Flat face Cleft upper lip Abnormality of the foot Hypotrichosis Retinopathy Wide intermamillary distance Abnormal cardiac septum morphology Apnea Abnormality of the kidney Camptodactyly Low-set, posteriorly rotated ears Conductive hearing impairment Hepatosplenomegaly Growth hormone deficiency Decreased testicular size Psoriasiform dermatitis Telangiectasia Lipodystrophy Sleep apnea Plagiocephaly Type I diabetes mellitus Elbow flexion contracture Aspiration Gynecomastia Primary amenorrhea Amenorrhea Hypertrichosis Hypertriglyceridemia Blue sclerae Epistaxis Immotile cilia Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Hyperuricemia Epiphora Abnormality of the musculature Urethral stenosis Neoplasm Recurrent skin infections Infra-orbital fold Encephalitis Abnormal lip morphology Irregular dentition Eclabion Recurrent bacterial infections Generalized osteoporosis Abnormality of the vasculature Palpebral edema Abnormality of the sternum Prolonged bleeding time High pitched voice Premature ovarian insufficiency Conjunctivitis Meningitis Increased susceptibility to fractures Abnormality of the liver Sepsis Insulin resistance Asthma Abdominal distention Dyskinesia Cirrhosis Nausea Respiratory tract infection Chronic diarrhea Carcinoma Elevated hepatic transaminase Gastroesophageal reflux Respiratory failure Abdominal pain Hepatitis Recurrent otitis media Aortic aneurysm Redundant skin Neutropenia Long philtrum Coarse facial features Retrognathia External ear malformation Osteoporosis Agammaglobulinemia Verrucae Downslanted palpebral fissures Recurrent sinusitis Macrocephaly B lymphocytopenia Cognitive impairment Cryptorchidism Muscular hypotonia Scoliosis Crohn's disease Umbilical hernia Joint laxity Hyperextensible skin High myopia Cutis laxa Chronic otitis media Sparse and thin eyebrow Osteomyelitis Decreased body weight Sparse scalp hair Thick lower lip vermilion Narrow forehead Sparse hair Cellulitis Single transverse palmar crease Everted lower lip vermilion Thick vermilion border Hirsutism Bruising susceptibility Joint hypermobility Pancreatitis Tachypnea Interstitial pulmonary abnormality Erythema Chest pain Hypopigmentation of the skin Hemolytic anemia Hepatic failure Hyperkalemia Hyperaldosteronism Facial palsy Syncope Proximal muscle weakness Photophobia Renal salt wasting Pseudohypoaldosteronism Weight loss Glaucoma Arrhythmia Sudden cardiac death Pancytopenia Headache Hypercalcemia Abnormality of metabolism/homeostasis Chorioretinal atrophy Blurred vision Diabetes insipidus Intellectual disability Inflammation of the large intestine Pleural effusion Eosinophilia Palpitations Ventricular tachycardia Leukopenia Decreased liver function Hyponatremia Anorexia Nephrolithiasis Subcutaneous nodule Thrombocytopenia Renal insufficiency Skin rash Chronic obstructive pulmonary disease Nasal polyposis Rectal prolapse Ileus Biliary cirrhosis Allergy Abnormality of the pancreas Cor pulmonale Chronic lung disease Chronic pancreatitis Neoplasm of the pancreas Wheezing Male infertility Steatorrhea Malnutrition Intestinal obstruction Clubbing Chronic infection Secretory diarrhea Congestive heart failure Echogenic fetal bowel Blindness Skeletal muscle atrophy Peripheral neuropathy Visual impairment Cataract Seizures Microscopic nephrocalcinosis Cellular metachromasia Obstructive lung disease Biliary tract obstruction Absent vas deferens Obstructive azoospermia Recurrent bronchopulmonary infections Meconium ileus Pancreatic adenocarcinoma Productive cough Recurrent bronchiolitis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Congenital cataract, related diseases and genetic alterations Motor delay and Insulin resistance, related diseases and genetic alterations Neuroblastoma and Polymicrogyria, related diseases and genetic alterations