Abnormality of the skeletal system, and Lethargy

Diseases related with Abnormality of the skeletal system and Lethargy

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


Top matches:

Low match SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY


Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease|pap, reunion island type|pulmonary alveolar proteinosis, reunion island type|hereditary pulmonary alveolar proteinosis with hepatic involvement

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Vomiting
  • Encephalopathy
  • Jaundice


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

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 HEREDITARY CENTRAL DIABETES INSIPIDUS


Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.

HEREDITARY CENTRAL DIABETES INSIPIDUS Is also known as hereditary cdi|hereditary neurogenic diabetes insipidus

Related symptoms:

  • Growth delay
  • Fever
  • Vomiting
  • Diarrhea
  • Weight loss


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY CENTRAL DIABETES INSIPIDUS

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Other less relevant matches:

Low match LYSOSOMAL ACID PHOSPHATASE DEFICIENCY


Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Vomiting
  • Recurrent infections
  • Lethargy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LYSOSOMAL ACID PHOSPHATASE DEFICIENCY

Low match TRANSIENT FAMILIAL NEONATAL HYPERBILIRUBINEMIA


TRANSIENT FAMILIAL NEONATAL HYPERBILIRUBINEMIA Is also known as lucey-driscoll syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Jaundice
  • Lethargy
  • Hyperbilirubinemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TRANSIENT FAMILIAL NEONATAL HYPERBILIRUBINEMIA

Low match NON-SPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY


Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.

Related symptoms:

  • Anemia
  • Fatigue
  • Splenomegaly
  • Abnormality of metabolism/homeostasis
  • Jaundice


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NON-SPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY

Low match ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8


ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8 Is also known as herpes simplex encephalitis, susceptibility to, 6

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Edema
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD


cblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cbld|methylmalonic aciduria with homocystinuria, type cbld|cbld defect|cobalamin d defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD

Low match HYPERAMMONEMIC ENCEPHALOPATHY DUE TO CARBONIC ANHYDRASE VA DEFICIENCY


Carbonic anhydrase VA deficiency is an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation shows multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities include hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder shows a relatively benign course. Treatment with carglumic acid can result in neurologic improvement (summary by van Karnebeek et al., 2014).

HYPERAMMONEMIC ENCEPHALOPATHY DUE TO CARBONIC ANHYDRASE VA DEFICIENCY Is also known as ca-va deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Delayed speech and language development
  • Encephalopathy
  • Acidosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPERAMMONEMIC ENCEPHALOPATHY DUE TO CARBONIC ANHYDRASE VA DEFICIENCY

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

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hyperammonemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Vomiting Jaundice

Rare Symptoms - Less than 30% cases


Fever Anemia Fatigue Acidosis Lactic acidosis Cardiomyopathy Tachypnea Growth delay Encephalopathy Hypoglycemia Hyperbilirubinemia Chronic hemolytic anemia Obesity Immunodeficiency Edema Cholelithiasis Cognitive impairment Prolonged neonatal jaundice Normochromic anemia EEG abnormality Normocytic anemia Cholecystitis Pancytopenia Reticulocytosis Nonspherocytic hemolytic anemia Hemolytic anemia Herpes simplex encephalitis Mental deterioration Megaloblastic bone marrow Acute encephalopathy Hyperalaninemia Alkalosis Ketonuria Ketoacidosis Increased serum lactate Metabolic acidosis Muscular hypotonia of the trunk Delayed speech and language development Anorexia Confusion Abnormality of movement Pallor Behavioral abnormality Gait disturbance Failure to thrive Cerebral edema Encephalitis Meningitis Hemiparesis Abnormality of metabolism/homeostasis Hypothermia Splenomegaly Dystonia Chorea Sepsis Coma Neutropenia Nausea and vomiting Thrombocytopenia Renal insufficiency Respiratory distress Pancreatitis Optic atrophy Hepatomegaly Hepatic encephalopathy Abnormality of the gastrointestinal tract Acute hepatic failure Abnormality of the coagulation cascade Hepatic failure Elevated hepatic transaminase Choreoathetosis Hemiplegia/hemiparesis Neonatal unconjugated hyperbilirubinemia Hypertrophic cardiomyopathy Kernicterus Unconjugated hyperbilirubinemia Neonatal hyperbilirubinemia Cerebral palsy Severe lactic acidosis Left ventricular noncompaction Short chin Congestive heart failure Renal tubular dysfunction Opisthotonus Abnormal bleeding Recurrent infections Diabetes insipidus Polydipsia Irritability Weight loss Diarrhea Respiratory alkalosis



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