Pain, and Lethargy

Diseases related with Pain and Lethargy

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


Top matches:

Low match NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD


The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. SIADH occurs in a setting of normal blood volume, without evidence of renal disease or deficiency of thyroxine or cortisol. Although usually transient, SIADH may be chronic; it is often associated with drug use or a lesion in the central nervous system or lung. When the cardinal features of SIADH were defined by Bartter and Schwartz (1967), levels of AVP could not be measured. Subsequently, radioimmunoassays revealed that SIADH is usually associated with measurably elevated serum levels of AVP. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP (Feldman et al., 2005).

Related symptoms:

  • Seizures
  • Pain
  • Hypertension
  • Edema
  • Hypoglycemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD

Low match FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY


FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY Is also known as apoc2 deficiency|hyperlipoproteinemia, type ib|familial apoc-ii deficiency|c-ii anapolipoproteinemia

Related symptoms:

  • Global developmental delay
  • Pain
  • Hepatomegaly
  • Macrocephaly
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY

Low match DENGUE FEVER


Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).

DENGUE FEVER Is also known as df|dengue virus infection

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Diarrhea
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about DENGUE FEVER

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Other less relevant matches:

Low match CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY


Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.

CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY Is also known as carbamoyl phosphate synthetase i deficiency|carbamoyl-phosphate synthetase deficiency|cps i deficiency|carbamoyl-phosphate synthetase i deficiency|cps1 deficiency|cps1d

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY

Low match MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX


X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

Low match VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as vlcadd|vlcad deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Low match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4


Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4 Is also known as progressive external ophthalmoplegia, autosomal dominant 4

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4

Low match LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.

LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lcad

Related symptoms:

  • Generalized hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Myopathy
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Low match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Top 5 symptoms//phenotypes associated to Pain and Lethargy

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Vomiting Generalized hypotonia Myopathy Myalgia Irritability Cardiomyopathy Encephalopathy Diarrhea Muscular hypotonia Respiratory insufficiency Hepatic steatosis Feeding difficulties Elevated hepatic transaminase Elevated serum creatine phosphokinase Hypertrophic cardiomyopathy Arrhythmia Progressive muscle weakness

Rare Symptoms - Less than 30% cases


Nausea and vomiting Ataxia Failure to thrive Dicarboxylic aciduria Bundle branch block Tachypnea Decreased plasma carnitine Hyperammonemia Generalized muscle weakness Cardiac arrest Sudden cardiac death Motor delay Hepatocellular necrosis Abnormality of the liver Neonatal hypotonia Limb muscle weakness Exercise-induced myoglobinuria Intellectual disability Exercise intolerance Splenomegaly Hypertension Confusion Coma Generalized-onset seizure Fever Headache Autism Pallor Hyperpigmentation of the skin Hypogonadotrophic hypogonadism Photophobia Azoospermia Prolonged neonatal jaundice Portal hypertension Impotence Cirrhosis Hyperhidrosis Arthropathy Behavioral abnormality Fatigue Generalized hyperpigmentation Cognitive impairment Amenorrhea Delayed puberty Attention deficit hyperactivity disorder Migraine Hepatic encephalopathy Abnormality of mitochondrial metabolism Abnormal autonomic nervous system physiology Neonatal sepsis Congestive heart failure Anorexia Osteoporosis Vertigo Hypogonadism Diabetes mellitus Arthritis Nausea Dilated cardiomyopathy Increased serum ferritin Infertility Strabismus Microcephaly Growth delay Glucose intolerance Exercise-induced rhabdomyolysis Nonketotic hypoglycemia Atrial flutter Hypothermia Fatigable weakness External ophthalmoplegia Easy fatigability Progressive external ophthalmoplegia Cerebral visual impairment Ketosis Left bundle branch block Gastroparesis Cytochrome C oxidase-negative muscle fibers Multiple mitochondrial DNA deletions Autistic behavior Muscle stiffness EMG: myopathic abnormalities Elevated creatine kinase after exercise Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Prolonged QT interval Ptosis Congenital hepatic fibrosis Increased serum iron Abnormality of iron homeostasis Hearing impairment Abnormality of the anterior pituitary Elevated transferrin saturation Abnormality of endocrine pancreas physiology Blindness Increased serum lactate Cerebellar atrophy Constipation Acidosis Gastroesophageal reflux Facial palsy Ophthalmoplegia Mild expressive language delay Lactic acidosis Skeletal myopathy Right bundle branch block Hypoketotic hypoglycemia Gastrointestinal hemorrhage Increased circulating chylomicron concentration Thrombocytopenia Arthralgia Skin rash Pruritus Bruising susceptibility Ascites Hypotension Eruptive xanthomas Epistaxis Leukopenia Shock Cerebral hemorrhage Petechiae Gingival bleeding Cardiorespiratory arrest Flushing Lipemia retinalis Epigastric pain Stroke Inappropriate antidiuretic hormone secretion Edema Hypoglycemia Hyponatremia Muscle fibrillation Decreased circulating renin level Hypernatriuria Elevated systolic blood pressure Decreased serum creatinine Macrocephaly Chronic pancreatitis Cerebral atrophy Hepatosplenomegaly Abnormality of the nervous system Hypertriglyceridemia Pancreatitis Hypercholesterolemia Episodic abdominal pain Hyperlipoproteinemia Hypoproteinemia Generalized tonic-clonic seizures Myoglobinuria Limb-girdle muscle weakness Left ventricular hypertrophy Gowers sign Myotonia Difficulty climbing stairs Difficulty running Hypoventilation Progressive proximal muscle weakness Proximal muscle weakness in lower limbs Lower limb muscle weakness Autophagic vacuoles Limited extraocular movements Hepatic failure Nephropathy Dehydration Cardiomegaly Infantile muscular hypotonia Rhabdomyolysis Ventricular hypertrophy Muscular dystrophy Focal-onset seizure Hypoargininemia Aminoaciduria Focal impaired awareness seizure Diabetes insipidus Alkalosis Cerebral edema Microvesicular hepatic steatosis Decerebrate rigidity Respiratory alkalosis Protein avoidance Distal muscle weakness Episodic ammonia intoxication Low plasma citrulline Scoliosis Flexion contracture High palate Skeletal muscle atrophy Kyphoscoliosis Proximal muscle weakness Gastrointestinal dysmotility



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