Failure to thrive, and Pain

Diseases related with Failure to thrive and Pain

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

Top matches:

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. [HPO:probinson]

CREATINE PHOSPHOKINASE, ELEVATED SERUM Is also known as cpk, elevated serum|hyperckemia, idiopathic

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Fever
  • Fatigue
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about CREATINE PHOSPHOKINASE, ELEVATED SERUM

Related symptoms:

  • Short stature
  • Failure to thrive
  • Vomiting
  • Delayed skeletal maturation
  • Abdominal pain


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY, PARTIAL; GHIP

characterized by the deficiency or absence of the enzymes sucrase and isomaltase existing at, and usually before birth; this enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (ie, sucrose) and certain products of starch digestion (dextrins); only evident soon after birth when sucrose or starches, such as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant, breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet.

SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID Is also known as sucrose-isomaltose malabsorption, congenital|disaccharide intolerance i|sucrose intolerance, congenital|si deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID

Other less relevant matches:

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Motor delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).

INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME Is also known as otulipenia|oras|otulin deficiency|otulin-related autoinflammatory syndrome

Related symptoms:

  • Failure to thrive
  • Fever
  • Diarrhea
  • Immunodeficiency
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME

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

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Related symptoms:

  • Failure to thrive
  • Pain
  • Hepatomegaly
  • Fatigue
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE ID

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

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

Symptoms // Phenotype % cases
Abdominal pain Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Constipation Respiratory insufficiency Fatigue

Rare Symptoms - Less than 30% cases

Muscular hypotonia Dyspnea Peripheral neuropathy Chronic constipation Respiratory distress Respiratory failure Cough Seizures Chest pain Abdominal colic Abnormal lung morphology Tachypnea Clubbing Interstitial pulmonary abnormality Interstitial pneumonitis Alveolar proteinosis Desquamative interstitial pneumonitis Hypertension Motor delay Cyanosis Hypoglycemia Abnormality of metabolism/homeostasis Short stature Myalgia Ketosis Irritability Hypertrophic cardiomyopathy Poor appetite Hyperammonemia Recurrent urinary tract infections Heterotopia Pachygyria Febrile seizures Metabolic acidosis Lactic acidosis Feeding difficulties Acidosis Cardiomyopathy Hepatomegaly Elevated serum creatine phosphokinase Global developmental delay Nonproductive cough Productive cough Foam cells Hypoxemia Right ventricular hypertrophy Hyperventilation Hemoptysis Episodic vomiting Hepatosplenomegaly Splenomegaly Behavioral abnormality Wrist drop Respiratory paralysis Motor axonal neuropathy Hyponatremia Hemiparesis Psychosis Polyneuropathy Sensory neuropathy Hemolytic anemia Tachycardia Paresthesia Anemia Ventricular hypertrophy Increased circulating chylomicron concentration Lipemia retinalis Eruptive xanthomas Acute pancreatitis Hyperlipoproteinemia Colitis Hyperlipidemia Pancreatitis Hypertriglyceridemia Abnormality of the cardiovascular system Gastrointestinal hemorrhage Neonatal respiratory distress Apnea Pulmonary arterial hypertension Abnormal autonomic nervous system physiology Vasculitis Lymphadenopathy Skin rash Scarring Arthralgia Immunodeficiency Pain insensitivity Decreased body weight Axonal loss Joint dislocation Pruritus Leukocytosis Hyperhidrosis Dystonia Decreased serum insulin-like growth factor 1 Small pituitary gland Muscle weakness Growth delay Malnutrition Failure to thrive in infancy Nephrolithiasis Dehydration Abdominal distention Lipodystrophy Joint swelling Autoimmunity Rhabdomyolysis Malabsorption Weight loss Muscular dystrophy Muscle cramps EMG: myopathic abnormalities Delayed gross motor development Tubulointerstitial fibrosis Recurrent bronchitis Pulmonary infiltrates Bronchitis Pulmonary fibrosis Neutrophilia Malignant hyperthermia Mitochondrial myopathy Increased muscle fatiguability Abnormality of muscle fibers Exercise-induced muscle cramps Inflammatory myopathy Delayed skeletal maturation Recurrent respiratory infections Recurrent infections Delayed puberty Panniculitis Elevated urinary delta-aminolevulinic acid


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Ulcerative colitis, related diseases and genetic alterations Hepatomegaly and Nephritis, related diseases and genetic alterations Myopathy and Hip dislocation, related diseases and genetic alterations Spasticity and Myelodysplasia, related diseases and genetic alterations