Failure to thrive, and Cough

Diseases related with Failure to thrive and Cough

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

Top matches:

Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (OMIM ).

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2 Is also known as interstitial lung disease due to surfactant protein c deficiency|desquamative interstitial pneumonitis due to surfactant protein c deficiency|pulmonary alveolar proteinosis, congenital, 2

Related symptoms:

  • Failure to thrive
  • Pain
  • Respiratory insufficiency
  • Respiratory distress
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2

Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005).A clinically similar disorder characterized by respiratory distress (OMIM ) can affect preterm infants, who show developmental deficiency of surfactant.Acquired PAP (OMIM ) is an autoimmune disorder characterized by the presence of autoantobodies to CSF2 (OMIM ). Genetic Heterogeneity of Pulmonary Surfactant Metabolism DysfunctionSee also SMDP2 (OMIM ), caused by mutation in the SPTPC gene (OMIM ) on 8p21; SMDP3 (OMIM ), caused by mutation in the ABCA3 gene (OMIM ) on 16p13; SMDP4 (OMIM ), caused by mutation in the CSF2RA gene (OMIM ) on Xp22; and SMDP5 (OMIM ), caused by mutation in the CSF2RB gene (OMIM ) on 22q12.

NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY Is also known as neonatal acute respiratory distress due to surfactant protein b deficiency|pulmonary alveolar proteinosis, congenital, 1|interstitial lung disease due to surfactant protein b deficiency|interstitial lung disease, nonspecific, due to surfactant protein b d

Related symptoms:

  • Failure to thrive
  • Pain
  • Hypertension
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY

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

Other less relevant matches:

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).

INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as infantile liver failure syndrome 2, formerly|pulmonary alveolar proteinosis, reunion island|ilfs2, formerly

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.

X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME Is also known as xq22.3 microdeletion syndrome|chromosome xq22.3 centromeric deletion syndrome|alport syndrome and diffuse leiomyomatosis|leiomyomatosis, esophageal and vulval, with nephropathy|ats-dl

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME

Medium match TUBERCULOSIS

Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.

Related symptoms:

  • Fever
  • Fatigue
  • Weight loss
  • Cough
  • Abnormal lung morphology


SOURCES: ORPHANET MENDELIAN

More info about TUBERCULOSIS

Medium match MAJEED SYNDROME

Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

MAJEED SYNDROME Is also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about MAJEED SYNDROME

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

Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Top 5 symptoms//phenotypes associated to Failure to thrive and Cough

Symptoms // Phenotype % cases
Dyspnea Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Clubbing Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Cough. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal lung morphology Pain Weight loss Hepatomegaly Alveolar proteinosis Interstitial pulmonary abnormality Diarrhea Cyanosis Respiratory insufficiency Chest pain

Rare Symptoms - Less than 30% cases

Anemia Tachypnea Splenomegaly Proteinuria Malabsorption Bronchiectasis Dehydration Skin rash Microscopic hematuria Vomiting Inflammatory abnormality of the skin Recurrent otitis media Hemoptysis Abnormality of metabolism/homeostasis Hypertension Bronchitis Pulmonary infiltrates Recurrent infections Recurrent respiratory infections Headache Respiratory failure Interstitial pneumonitis Desquamative interstitial pneumonitis Hepatitis Cellulitis Encephalitis Chronic diarrhea Recurrent skin infections Meningitis Recurrent pneumonia Osteomyelitis Recurrent bacterial infections Chronic otitis media Conjunctivitis Sinusitis Abnormality of bone marrow cell morphology Decreased antibody level in blood Synovitis Cachexia Increased susceptibility to fractures Metaphyseal irregularity Acne Leukocytosis Glomerulopathy Pustule Hypochromic microcytic anemia Congenital hypoplastic anemia Sepsis Chronic recurrent multifocal osteomyelitis Abnormal inflammatory response Hypertelorism High palate Epicanthus Immunodeficiency Pneumonia Arthritis Neutropenia Recurrent sinusitis Abdominal pain External ear malformation Rectal prolapse Portal hypertension Colon cancer Hamartoma Polycythemia Hematochezia Clubbing of fingers Intestinal polyposis Stomach cancer Hypokalemia Hamartomatous polyposis Hematemesis Melena Intussusception Multiple gastric polyps Duodenal adenocarcinoma Adenocarcinoma of the colon Hypoalbuminemia Diplopia Agammaglobulinemia Macrocephaly Verrucae B lymphocytopenia Crohn's disease Recurrent enteroviral infections Seizures Neoplasm Cryptorchidism Congestive heart failure Telangiectasia Hernia Umbilical hernia Jaundice Carcinoma Stroke Vertigo Gastrointestinal hemorrhage Epistaxis Increased bone mineral density Nephropathy Bone pain Gastroesophageal reflux Hyperkalemia Hyperaldosteronism Renal salt wasting Pseudohypoaldosteronism Elevated sweat chloride Growth delay Hepatosplenomegaly Infertility Lymphadenopathy Otitis media Eczema Pancytopenia Increased body weight Severe combined immunodeficiency Decrease in T cell count Hyponatremia Scarring Recurrent opportunistic infections Neonatal respiratory distress Pulmonary fibrosis Recurrent bronchitis Tubulointerstitial fibrosis Apnea Autoimmunity Pulmonary arterial hypertension Ventricular hypertrophy Hyperventilation Hyperkeratosis Right ventricular hypertrophy Hypoxemia Foam cells Productive cough Nonproductive cough Feeding difficulties Dilatation Oral ulcer Failure to thrive secondary to recurrent infections Papule High-frequency sensorineural hearing impairment Hematuria Asthma Skeletal muscle hypertrophy Wheezing Macroscopic hematuria Thickening of the glomerular basement membrane Lenticonus Diffuse glomerular basement membrane lamellation Congenital cataract Diffuse leiomyomatosis Anterior lenticonus Tracheobronchial leiomyomatosis Flexion contracture Edema Arthralgia Myalgia Stage 5 chronic kidney disease Constipation Generalized hypotonia Hepatic failure Motor delay Hypothyroidism Acidosis Elevated hepatic transaminase Abnormality of the liver Lactic acidosis Cirrhosis Hepatic steatosis Dysphagia Cholestasis Decreased liver function Aminoaciduria Severe failure to thrive Hearing impairment Sensorineural hearing impairment Cataract Hepatic vascular malformations


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