Anemia, and Vomiting

Diseases related with Anemia and Vomiting

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


Top matches:

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 PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY


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

Low match INTERSTITIAL LUNG AND LIVER DISEASE; ILLD


Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).

INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as infantile liver failure syndrome 2, formerly|pulmonary alveolar proteinosis, reunion island|ilfs2, formerly

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

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Other less relevant matches:

Low match PLEURAL MESOTHELIOMA


Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEURAL MESOTHELIOMA

Low match COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY; CHAPLE


Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).

Related symptoms:

  • Growth delay
  • Pain
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: OMIM MESH MENDELIAN

More info about COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY; CHAPLE

Low match HYPERLYSINEMIA


Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.

HYPERLYSINEMIA Is also known as hyperlysinemia type i|lysine alpha-ketoglutarate reductase deficiency|lysine:alpha-ketoglutarate reductase deficiency|l-lysine:nad-oxido-reductase deficiency|alpha-aminoadipic semialdehyde synthase deficiency|lysine intolerance

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERLYSINEMIA

Low match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

Low match VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA Is also known as methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type|vitamin b12-responsive methylmalonic aciduria type cbla|methylmalonic acidemia, cbla type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA

Low match ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY


Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency|acad8 deficiency|acyl-coa dehydrogenase family, member 8, deficiency of|isobutyric aciduria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Low match PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME


Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME Is also known as nlrc4-related macrophage activation syndrome|nlrc4-related infantile enterocolitis-autoinflammatory syndrome|nlrc4-related autoinflammatory syndrome with macrophage activation syndrome|nlrc4-related mas|nlrc4-related autoinflammatory syndrome with mas

Related symptoms:

  • Seizures
  • Short stature
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Vomiting

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Vomiting. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Respiratory distress Global developmental delay Diarrhea Pain Acidosis Abdominal pain Respiratory insufficiency Intellectual disability Coma

Rare Symptoms - Less than 30% cases


Ascites Poor speech Growth delay Intestinal obstruction Cough Metabolic acidosis Pancytopenia Tachycardia Enterocolitis Delayed speech and language development Fever Behavioral abnormality Dyspnea Thrombocytopenia Hyperammonemia Abnormal lung morphology Decreased liver function Feeding difficulties Neutropenia Aciduria Dehydration Lethargy Clubbing Apnea Postnatal microcephaly Brain atrophy Generalized tonic-clonic seizures Abdominal distention Myoclonus Clonus Short attention span Hypertonia Ectopia lentis Intellectual disability, mild Hyperactivity Rigidity Abnormality of the nervous system Tetraparesis Spastic tetraparesis Abnormality of the genitourinary system Optic nerve hypoplasia Episodic vomiting Hypoplasia of the corpus callosum Normochromic anemia Cystinuria Hyperlysinuria Asthenia Oroticaciduria Hyperlysinemia Microcephaly Abnormal facial shape Ventriculomegaly Muscle fibrillation Homocystinuria Fetal distress Arthritis Neonatal hyperbilirubinemia Short stature Fatigue Splenomegaly Arthralgia Myalgia Skin rash Peripheral pulmonary artery stenosis Lymphopenia Abnormality of the coagulation cascade Loss of consciousness Colitis Increased serum ferritin Disseminated intravascular coagulation Secretory diarrhea Pyelonephritis Decreased plasma carnitine Prenatal movement abnormality Methylmalonic acidemia Tremor Feeding difficulties in infancy Ketosis Ketonuria Methylmalonic aciduria Hypoproteinemic edema Hyperglycinemia Decreased adenosylcobalamin Mild global developmental delay Decreased methylmalonyl-CoA mutase activity Cardiomyopathy Atrial septal defect Dilated cardiomyopathy Pulmonic stenosis Asthma Cardiomegaly Cognitive impairment Malabsorption Hepatic vein thrombosis Elevated hepatic transaminase Motor axonal neuropathy Respiratory paralysis Wrist drop Abdominal colic Elevated urinary delta-aminolevulinic acid Motor delay Hypothyroidism Abnormality of the liver Hemiparesis Lactic acidosis Cirrhosis Hepatic failure Hepatic steatosis Cholestasis Aminoaciduria Interstitial pulmonary abnormality Hyponatremia Psychosis Alveolar proteinosis Pancreatitis Optic atrophy Dystonia Renal insufficiency Nausea and vomiting Sepsis Chorea Choreoathetosis Hemiplegia/hemiparesis Polyneuropathy Renal tubular dysfunction Hypertension Peripheral neuropathy Constipation Paresthesia Hemolytic anemia Sensory neuropathy Severe failure to thrive Neoplasm Budd-Chiari syndrome Iron deficiency anemia Recurrent infections Recurrent respiratory infections Respiratory tract infection Decreased antibody level in blood Abnormal intestine morphology Hypoalbuminemia Malnutrition Thromboembolism Pericardial mesothelioma Pulmonary embolism Thrombocytosis Hypercoagulability Hypoproteinemia Generalized edema Protein-losing enteropathy Intestinal lymphangiectasia Edema Peritoneal mesothelioma Dysphagia Oral-pharyngeal dysphagia Weight loss Lymphadenopathy Nausea Chest pain Hypotension Pleural effusion Abnormality of the thorax Night sweats Pleural mesothelioma Abnormality of the pleura Abnormality of cardiovascular system physiology Functional respiratory abnormality Fourth cranial nerve palsy Constitutional symptom Malignant mesothelioma Obstruction of the superior vena cava Diffuse alveolar hemorrhage



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