Abnormality of the skeletal system, and Respiratory distress

Diseases related with Abnormality of the skeletal system and Respiratory distress

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Respiratory distress that can help you solving undiagnosed cases.


Top matches:

Low match IMMUNODEFICIENCY 39; IMD39


Related symptoms:

  • Respiratory distress
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 39; IMD39

Low match HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME


Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.

Related symptoms:

  • Muscular hypotonia
  • Respiratory distress
  • Limitation of joint mobility
  • EMG abnormality
  • Reduced tendon reflexes


SOURCES: ORPHANET MENDELIAN

More info about HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME

Low match HEREDITARY ELLIPTOCYTOSIS


Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

HEREDITARY ELLIPTOCYTOSIS Is also known as he

Related symptoms:

  • Anemia
  • Fatigue
  • Respiratory distress
  • Jaundice
  • Cholelithiasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY ELLIPTOCYTOSIS

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Other less relevant matches:

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0


Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Low match SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5


Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis (PAP). PAP is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by Greenhill and Kotton, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (OMIM ).

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5 Is also known as pap due to csf2rb deficiency|csf2rb deficiency|pulmonary alveolar proteinosis 5

Related symptoms:

  • Respiratory insufficiency
  • Respiratory distress
  • Pneumonia
  • Respiratory failure
  • Dyspnea


SOURCES: OMIM MENDELIAN

More info about SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5

Low match INFANT ACUTE RESPIRATORY DISTRESS SYNDROME


Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.

INFANT ACUTE RESPIRATORY DISTRESS SYNDROME Is also known as infant ards|rds of prematurity|hyaline membrane disease|neonatal respiratory distress syndrome|hyaline membrane disease, formerly|infant respiratory distress syndrome

Related symptoms:

  • Respiratory distress
  • Edema
  • Premature birth
  • Tachypnea
  • Neonatal respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANT ACUTE RESPIRATORY DISTRESS SYNDROME

Low match CARDIOMYOPATHY, DILATED, 1M; CMD1M


Related symptoms:

  • Respiratory distress
  • Cardiomyopathy
  • Congestive heart failure
  • Dyspnea
  • Hypertrophic cardiomyopathy


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1M; CMD1M

Low match ASTHMA, SUSCEPTIBILITY TO


Bronchial asthma is the most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment.Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006). See {147050} for information on the asthma-associated phenotype atopy.

ASTHMA, SUSCEPTIBILITY TO Is also known as asthma, bronchial|asthma-related traits, susceptibility to

Related symptoms:

  • Fever
  • Respiratory distress
  • Dyspnea
  • Cough
  • Asthma


SOURCES: OMIM MENDELIAN

More info about ASTHMA, SUSCEPTIBILITY TO

Low match BRUGADA SYNDROME 1; BRGDA1


Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005). Genetic Heterogeneity of Brugada SyndromeBrugada syndrome-2 (OMIM ) is caused by mutation in the GPD1L gene (OMIM ) on chromosome 3p22. Brugada syndrome-3 (OMIM ) and Brugada syndrome-4 (OMIM ), the phenotypes of which include a shortened QT interval on ECG, are caused by mutation in the CACNA1C gene (OMIM ) on chromosome 12p13 and CACNB2 gene (OMIM ) on chromosome 10p12, respectively. Brugada syndrome-5 (OMIM ) is caused by mutation in the SCN1B gene (OMIM ) on chromosome 19q13. Brugada syndrome-6 (OMIM ) is caused by mutation in the KCNE3 gene (OMIM ) on chromosome 11q13. Brugada syndrome-7 (OMIM ) is caused by mutation in the SCN3B gene (OMIM ) on chromosome 11q24. Brugada syndrome-8 (OMIM ) is caused by mutation in the HCN4 gene (OMIM ) on chromosome 15q24. Brugada syndrome-9 (OMIM ) is caused by mutation in the KCND3 gene (OMIM ) on chromosome 1p13.Antzelevitch et al. (2007) screened 82 consecutive probands with a clinical diagnosis of Brugada syndrome for mutations in 16 ion channel genes. Seven probands were found to have mutations in the CACNA1C (OMIM ) or CACNB2 (OMIM ) genes, including 3 Brugada probands with shortened QTc intervals (see {611875} and {611876}). Fifteen percent of probands harbored a pathogenic mutation in the SCN5A gene.Delpon et al. (2008) screened 14 ion channel genes in 105 probands with Brugada syndrome and detected SCN5A mutations in 14.3%, CACNA1C mutations in 6.7%, and CACNB2 mutations in 4.8% of the probands.Hu et al. (2009) analyzed 9 'Brugada susceptibility' genes, including SCN5A, GPD1L (OMIM ), CACNB2, CACNA1C, SCN1B (OMIM ), KCNE2 (OMIM ), KCNE3 (OMIM ), KCNE4 (OMIM ), and IRX5 (OMIM ), as well as the sodium channel beta subunit SCN3B (OMIM ), in 179 probands with Brugada syndrome; they noted that 129 (72.07%) of the probands were negative for mutation in all of the genes tested.Crotti et al. (2012) analyzed 12 Brugada syndrome susceptibility genes in 129 unrelated patients with possible or probable Brugada syndrome and identified SCN5A mutations in 21 (16.3%) of the patients; only 6 (4.6%) of the patients carried a mutation in 1 of the other 11 genes.In a cohort of 91 SCN5A-negative Brugada syndrome patients and 91 European controls from the 1000 Genomes Project database, Di Resta et al. (2015) analyzed 158 arrhythmia- and cardiac defect-associated genes. A significant enrichment in Brugada syndrome samples was found only for the DSG2 gene (OMIM ), with 6 (6%) of 91 patients having a rare functional variant compared to none of the 91 controls (p = 0.029). In addition, borderline significance was detected for the MYH7 gene (OMIM ) (5 patients versus 0 controls; p = 0.059). Analysis of phenotype correlations yielded statistical significance only between the presence of a DSG2 variant and syncope, documented ventricular tachycardia/fibrillation, and/or cardiac arrest (p = 0.034). Di Resta et al. (2015) noted the possible genetic overlap between different cardiac disorders, suggesting common pathogenetic pathways.

BRUGADA SYNDROME 1; BRGDA1 Is also known as right bundle branch block, st segment elevation, and sudden death syndrome|sudden unexplained nocturnal death syndrome|sunds

Related symptoms:

  • Fever
  • Respiratory distress
  • Arrhythmia
  • Abnormal heart morphology
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about BRUGADA SYNDROME 1; BRGDA1

Low match INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY


Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.

INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY Is also known as pulmonary alveolar proteinosis, congenital, 3|interstitial lung disease due to abca3 deficiency|interstitial lung disease due to atp-binding cassette subfamily a member 3 deficiency

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Respiratory distress
  • Patent ductus arteriosus
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Respiratory distress

Symptoms // Phenotype % cases
Dyspnea Uncommon - Between 30% and 50% cases
Neonatal respiratory distress Rare - less than 30% cases
Respiratory failure Rare - less than 30% cases
Abnormal lung morphology Rare - less than 30% cases
Alveolar proteinosis Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Respiratory distress. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Tachypnea Fever Muscular hypotonia Anemia Severely reduced ejection fraction Impaired myocardial contractility Chest tightness Cough Abnormal left ventricle morphology Endocardial fibroelastosis Myocardial fibrosis Asthma Eczema Inflammatory abnormality of the skin Wheezing Atopic dermatitis Allergic rhinitis Abnormal heart morphology Arrhythmia T-wave inversion Interstitial pneumonitis Hypoxemia Chronic lung disease Apnea Patent ductus arteriosus Hypertension Failure to thrive ST segment elevation Bundle branch block Ventricular hypertrophy Right bundle branch block Loss of consciousness Ventricular fibrillation Ventricular arrhythmia Ventricular tachycardia Cardiac arrest Syncope Sudden cardiac death Tachycardia Left ventricular hypertrophy Cardiomyopathy Cardiomegaly Global developmental delay Lethargy Thrombocytopenia Renal insufficiency Dystonia Optic atrophy Hepatomegaly Growth delay Intellectual disability Neutropenia Elliptocytosis Cholelithiasis Jaundice Fatigue Reduced tendon reflexes EMG abnormality Limitation of joint mobility Nausea and vomiting Coma Dilated cardiomyopathy Edema Hypertrophic cardiomyopathy Congestive heart failure Immunodeficiency Disseminated intravascular coagulation Pulmonary edema Atelectasis Premature birth Pneumonia Sepsis Respiratory insufficiency Renal tubular dysfunction Hemiplegia/hemiparesis Hyperammonemia Pancreatitis Choreoathetosis Chorea Desquamative interstitial pneumonitis



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