Pain, and Apnea

Diseases related with Pain and Apnea

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


Top matches:

Low match SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1


Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1 ) by an earlier age at onset.Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Neonatal SeizuresSee also BFNS2 (OMIM ), which is caused by mutation in the KCNQ3 gene (OMIM ) on chromosome 8q24, and BFNS3 (OMIM ), which has been associated with a pericentric inversion on chromosome 5. See {269720} for a possible autosomal recessive form.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Motor delay
  • Fever
  • Myoclonus


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

Low match MYOTONIA, POTASSIUM-AGGRAVATED


In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.

MYOTONIA, POTASSIUM-AGGRAVATED Is also known as myotonia congenita, acetazolamide-responsive|myotonia fluctuans|sodium channel muscle disease|myotonia congenita, atypical|myotonia permanens

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Fever
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOTONIA, POTASSIUM-AGGRAVATED

Low match NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY


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

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Other less relevant matches:

Low match PAROXYSMAL EXTREME PAIN DISORDER


Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.

PAROXYSMAL EXTREME PAIN DISORDER Is also known as rectal pain, familial|pexpd|pepd|pain, submandibular, ocular, and rectal, with flushing|familial rectal pain

Related symptoms:

  • Seizures
  • Pain
  • Motor delay
  • Peripheral neuropathy
  • Constipation


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PAROXYSMAL EXTREME PAIN DISORDER

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F


Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F Is also known as charcot-marie-tooth neuropathy, type 2f|charcot-marie-tooth disease, neuronal, type 2f|cmt2f

Related symptoms:

  • Hearing impairment
  • Pain
  • Peripheral neuropathy
  • Talipes equinovarus
  • Areflexia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F

Low match DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME


A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.

DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME Is also known as mtdna deletion syndrome with limb-girdle weakness|progressive external ophthalmoplegia, autosomal dominant 6|mtdna deletion syndrome with progressive myopathy|mitochondrial dna deletion syndrome with limb-girdle weakness|mitochondrial dna deletion syndrom

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy
  • Gait disturbance
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME

Low match AMYOTROPHIC LATERAL SCLEROSIS


Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als|amyotrophic lateral sclerosis 1, autosomal dominant|fals|lou gehrig disease|charcot disease|amyotrophic lateral sclerosis 1, familial

Related symptoms:

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6


Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

Low match ONDINE SYNDROME


Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

Low match EPISODIC ATAXIA, TYPE 2; EA2


Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

EPISODIC ATAXIA, TYPE 2; EA2 Is also known as cerebellopathy, hereditary paroxysmal|ataxia, familial paroxysmal|capa|acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|apca|cerebellar ataxia, paroxysmal, acetazolamide-responsive|ataxia, episodic, with nystagmus|episodic ataxia, nystagmu

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 2; EA2

Top 5 symptoms//phenotypes associated to Pain and Apnea

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Sleep apnea Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Cyanosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Apnea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Muscle cramps Myalgia Depressivity Global developmental delay Peripheral neuropathy Bradycardia Feeding difficulties Generalized hypotonia Hyperhidrosis Motor delay Skeletal muscle atrophy Dyspnea Respiratory insufficiency Areflexia

Rare Symptoms - Less than 30% cases


Obstructive sleep apnea Hypoxemia Constipation Paresthesia Tachycardia Abnormal autonomic nervous system physiology Difficulty walking Facial palsy Respiratory failure Myopathy Postural instability Talipes equinovarus Impaired pain sensation Abnormal lung morphology Fasciculations Elevated serum creatine phosphokinase Myotonia Low-set ears Generalized muscle weakness Muscle stiffness Laryngospasm Paralysis Nausea and vomiting Anxiety Myoclonus Aganglionic megacolon Low-set, posteriorly rotated ears Degeneration of the lateral corticospinal tracts Fatigable weakness of bulbar muscles Respiratory tract infection Fatigable weakness of respiratory muscles Abnormality of the cardiovascular system Abnormality of the mouth Pseudobulbar paralysis Motor neuron atrophy Hypothermia Increased body weight Cardiorespiratory arrest Functional respiratory abnormality Neuroblastoma Polycythemia Hypoventilation Polyphagia Scarring Fatigable weakness of swallowing muscles Blotching pigmentation of the skin Sensory neuropathy Open mouth Short chin Hand clenching Chronic constipation Corneal scarring Alacrima Limited hip extension High palate Neonatal hypotonia Strabismus Muscular hypotonia Cognitive impairment Downslanted palpebral fissures Diarrhea Short nose Obesity Posteriorly rotated ears Flexion contracture Growth delay Hypercapnia Abnormality of the endocrine system CNS hypomyelination Nausea Abnormal cerebellum morphology Progressive cerebellar ataxia Migraine Focal-onset seizure Epileptic encephalopathy Intention tremor Diplopia Horizontal nystagmus Tinnitus Incoordination Proximal muscle weakness Hemiplegia Focal impaired awareness seizure Ophthalmoparesis Loss of consciousness Vestibular dysfunction Gaze-evoked nystagmus Cerebellar vermis atrophy Rhabdomyolysis Malignant hyperthermia Episodic ataxia Saccadic smooth pursuit Vertigo Rigidity Chronic lung disease Scoliosis Abnormal pupil morphology Central hypoventilation Neoplasm of the central nervous system Abnormality of temperature regulation Triangular mouth Snoring Ganglioneuroma Ganglioneuroblastoma Abnormality of the autonomic nervous system Abnormal lower motor neuron morphology Intellectual disability Ataxia EEG abnormality Nystagmus Dysarthria Optic atrophy Tremor Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar atrophy Vomiting Dystonia Headache Encephalopathy Degeneration of anterior horn cells Spasticity Frontotemporal dementia Desquamative interstitial pneumonitis Interstitial pulmonary abnormality Hemoptysis Hyperventilation Right ventricular hypertrophy Foam cells Interstitial pneumonitis Productive cough Alveolar proteinosis Nonproductive cough Flushing Clubbing Lacrimation abnormality Ocular pain Rhinorrhea Exaggerated startle response Mandibular pain Anal pain Hearing impairment Hyporeflexia Pes cavus Distal muscle weakness Neonatal respiratory distress Tachypnea Talipes Periodic paralysis Abnormality of the nervous system Generalized tonic-clonic seizures Febrile seizures Involuntary movements Exercise-induced myalgia Myokymia Focal clonic seizures Stridor Skeletal muscle hypertrophy Respiratory arrest Ventricular hypertrophy Apneic episodes in infancy Failure to thrive Hypertension Respiratory distress Abnormality of metabolism/homeostasis Weight loss Autoimmunity Cough Chest pain Pulmonary arterial hypertension Lower limb muscle weakness Peripheral axonal neuropathy Xerostomia Neurodegeneration Hypomimic face Slender build Tip-toe gait Microcephaly Cataract Hyperreflexia Dysphagia Dementia Skeletal dysplasia Tetraplegia Progressive external ophthalmoplegia Parkinsonism Gliosis Neuronal loss in central nervous system Peripheral demyelination Slurred speech Emotional lability Amyotrophic lateral sclerosis Agitation Bulbar palsy Muscle fibrillation Limb-girdle muscle weakness Exertional dyspnea Distal amyotrophy Impaired temperature sensation Distal sensory impairment Split hand Foot dorsiflexor weakness Reduced tendon reflexes Steppage gait Decreased motor nerve conduction velocity EMG: neuropathic changes Distal lower limb amyotrophy Restless legs EMG: chronic denervation signs Chronic axonal neuropathy Generalized amyotrophy Upper limb amyotrophy Ulnar claw Limb fasciculations Ptosis Gait disturbance Hyperlordosis Ophthalmoplegia Exercise intolerance External ophthalmoplegia Gowers sign Downbeat nystagmus



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