Abnormality of the skeletal system, and Respiratory failure

Diseases related with Abnormality of the skeletal system and Respiratory failure

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


Top matches:

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 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

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Other less relevant matches:

Low match PULMONARY ALVEOLAR MICROLITHIASIS


Pulmonary alveolar microlithiasis is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades, and, generally, the diagnosis is incidental to clinical investigations unrelated to the specific disorder. Cases with early onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age, and the disease follows a long-term progressive course, resulting in a slow deterioration of lung functions. About one-third of the reported cases are said to be familial (summary by Corut et al., 2006).

Related symptoms:

  • Pain
  • Respiratory distress
  • Respiratory failure
  • Dyspnea
  • Cough


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PULMONARY ALVEOLAR MICROLITHIASIS

Low match KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY


KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY Is also known as saposin a deficiency

Related symptoms:

  • Respiratory insufficiency
  • Hypertonia
  • Hyporeflexia
  • Respiratory failure
  • Apnea


SOURCES: OMIM MESH MENDELIAN

More info about KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY

Low match SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4


Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (OMIM ) expression. Acquired PAP (OMIM ), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (OMIM ) (Martinez-Moczygemba et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (OMIM ).

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 Is also known as pulmonary alveolar proteinosis, congenital, 4|csf2ra deficiency|pap due to csf2ra deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Respiratory insufficiency
  • Respiratory distress
  • Pneumonia


SOURCES: MESH OMIM MENDELIAN

More info about SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4

Low match FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY


Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.

FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY Is also known as mfm, fatal infantile hypertonic, alpha-b crystallin-related

Related symptoms:

  • Seizures
  • Flexion contracture
  • Respiratory insufficiency
  • Myopathy
  • Hypertonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY

Low match SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2


Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 (OMIM ).

Related symptoms:

  • Short neck
  • Pneumonia
  • Recurrent respiratory infections
  • Respiratory failure
  • Vertebral segmentation defect


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2

Low match AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12


Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Dysphagia
  • Respiratory failure
  • Fasciculations


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12

Low match AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS14


Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic TDP43 (TARDBP ) aggregates. Patients with ALS14 may develop frontotemporal dementia (FTD) (summary by Johnson et al., 2010).See inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD ), which is also caused by mutation in the VCP gene and shows some overlapping features. In some families with a VCP mutation, some family members may have ALS14, and other members may have IBMPFD.For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy
  • Myopathy
  • Dementia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS14

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

Symptoms // Phenotype % cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Abnormal lung morphology Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases
Alveolar proteinosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Amyotrophic lateral sclerosis Fasciculations Apnea

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Frontotemporal dementia Hypertonia Pallor Dementia Hyporeflexia Myopathy Restrictive deficit on pulmonary function testing Muscle weakness Dysarthria Hypoxemia Tachypnea Failure to thrive Dyspnea Muscular dystrophy Seizures Crackles Foam cells Restrictive ventilatory defect Elevated serum creatine phosphokinase Rigidity Flexion contracture Disproportionate short-trunk short stature Muscle stiffness Weak cry Myofibrillar myopathy Short neck Recurrent respiratory infections Vertebral segmentation defect Growth delay Rib fusion Dysphagia Tongue fasciculations Paralysis Limb muscle weakness Neurodegeneration Tachycardia Intraalveolar nodular calcifications Rapid neurologic deterioration Cough Hypertension Patent ductus arteriosus Neonatal respiratory distress Chronic lung disease Interstitial pneumonitis Desquamative interstitial pneumonitis Cognitive impairment Gait disturbance Neuronal loss in central nervous system Proximal amyotrophy Pain Chest pain Cerebral dysmyelination Interstitial pulmonary abnormality Exostoses Cor pulmonale Multiple exostoses Progressive pulmonary function impairment Brain atrophy Progressive neurologic deterioration Global brain atrophy Increased CSF protein Central apnea Vegetative state Parkinsonism



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