Ataxia, and Anorexia

Diseases related with Ataxia and Anorexia

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


Top matches:

Medium match BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY


Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.

BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Is also known as mat deficiency|mat i/iii deficiency|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

Medium match LYMPHOMA, HODGKIN, CLASSIC; CHL


Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease

Related symptoms:

  • Ataxia
  • Neoplasm
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHOMA, HODGKIN, CLASSIC; CHL

Medium match HOLOCARBOXYLASE SYNTHETASE DEFICIENCY


Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

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Other less relevant matches:

Medium match ARGININEMIA


Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

ARGININEMIA Is also known as arg1 deficiency|arginase deficiency|hyperargininemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ARGININEMIA

Medium 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

Medium match METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

Medium match LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO


Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).

Related symptoms:

  • Ataxia
  • Neoplasm
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

Medium match HEREDITARY FOLATE MALABSORPTION


Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

Medium match ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ


Related symptoms:

  • Short stature
  • Ataxia
  • Failure to thrive
  • Visual impairment
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Anorexia

Symptoms // Phenotype % cases
Lethargy Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Nausea and vomiting Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Anorexia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Intellectual disability Diarrhea Fatigue Behavioral abnormality Hepatomegaly Growth delay Fever Muscular hypotonia Pallor Irritability Headache Thrombocytopenia Hypertonia Respiratory distress Weight loss Aciduria Anemia Megaloblastic anemia Migraine Microcephaly Nausea Failure to thrive Splenomegaly Nystagmus Hyperreflexia Peripheral neuropathy Tremor

Rare Symptoms - Less than 30% cases


Cognitive impairment Cerebral cortical atrophy Gait disturbance Feeding difficulties Chronic diarrhea Pancytopenia Hyperammonemia Tachypnea Short stature Neutropenia Coma Macrocytic anemia Photophobia Hypotrichosis Abdominal pain Abnormality of the nervous system Dystonia Cheilitis Cardiomyopathy Motor delay Aminoaciduria Pain Muscle weakness Athetosis Hearing impairment Reduced consciousness/confusion Glossitis Hyperhidrosis Inflammatory abnormality of the skin Hepatitis Homocystinuria Hemoptysis Malabsorption Sepsis Bone marrow hypocellularity Neoplasm Chest pain Lymphadenopathy Pneumonia Poor appetite Cough Acidosis Respiratory insufficiency Feeding difficulties in infancy Skin rash Alopecia Gastroesophageal reflux Arrhythmia Oral ulcer Folate deficiency Myocarditis Normocytic anemia Chronic lung disease Pulmonary infiltrates Recurrent pharyngitis Abnormality of the pleura Proximal amyotrophy Pericarditis Eosinophilia Drowsiness Aspiration Abnormality of movement Dyskinesia Decreased antibody level in blood Respiratory tract infection Focal-onset seizure Cerebral calcification Recurrent urinary tract infections Recurrent respiratory infections Increased body weight Chills Recurrent infections Immunodeficiency Leukopenia Skeletal muscle atrophy Endocarditis Recurrent upper respiratory tract infections Abnormality of the immune system Basal ganglia calcification Folate-responsive megaloblastic anemia Emotional lability Visual impairment Bilateral sensorineural hearing impairment Visual loss Abnormal heart morphology Diabetes mellitus Hypoglycemia Abnormal cardiac septum morphology Stroke Paresthesia Retinal degeneration Retinal dystrophy Polyneuropathy Abnormality of the skin Amenorrhea Situs inversus totalis Atrial septal defect Cardiac arrest Hoarse voice Cone/cone-rod dystrophy Polycystic ovaries Myelodysplasia Hyperglycemia Secondary amenorrhea Abdominal situs inversus Abnormality of the basal ganglia Sideroblastic anemia Progressive peripheral neuropathy Paroxysmal atrial tachycardia Congestive heart failure Ventricular septal defect Hypogonadism Blepharitis Erythema Nail dystrophy Dry skin Decreased testicular size Abnormal blistering of the skin Skin ulcer Conjunctivitis Psoriasiform dermatitis Restrictive ventilatory defect Steatorrhea Pustule Alopecia of scalp Abnormal eyebrow morphology Optic atrophy Corneal erosion Furrowed tongue Ridged nail Impaired T cell function Decreased testosterone in males Ridged fingernail Paronychia Decreased taste sensation Recurrent candida infections Low alkaline phosphatase Increased serum zinc Sensorineural hearing impairment Cryptorchidism Cellulitis Decreased methionine synthase activity Hyponatremia EEG abnormality Desquamation of skin soon after birth Congenital lactic acidosis Perioral eczema Abnormality of the liver Spasticity Edema Intellectual disability, severe Abnormality of the eye Encephalopathy Hyperactivity Developmental regression Organic aciduria Postnatal growth retardation Neurological speech impairment Spastic paraplegia Limb muscle weakness Paraplegia Lower limb muscle weakness Talipes Tetraplegia Spastic tetraplegia Muscle stiffness Keratoconjunctivitis Hyperventilation Spastic paraparesis Polyclonal elevation of IgM Leukemia Pruritus Lymphoma Bone pain Osteolysis Hodgkin lymphoma Cellular immunodeficiency Lung adenocarcinoma Monoclonal immunoglobulin M proteinemia Impaired lymphocyte transformation with phytohemagglutinin Halitosis Eczema Hypermethioninemia Hypertyrosinemia CNS demyelination Gout Dysdiadochokinesis Aortic regurgitation Peripheral demyelination Lactic acidosis Metabolic acidosis Abnormality of eye movement Paraparesis Cerebral palsy Encephalitis Arthralgia Enterocolitis Methylmalonic acidemia Hyperhomocystinemia Decreased methylcobalamin Megaloblastic bone marrow Decreased adenosylcobalamin Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Renal insufficiency Respiratory failure Jaundice Methylmalonic aciduria Myalgia Proteinuria Confusion Hematuria Hypotension Abnormal lung morphology Hallucinations Lymphopenia Pancreatitis Shock Spastic ataxia Increased mean corpuscular volume Hemiplegia/hemiparesis Respiratory alkalosis Spastic diplegia Loss of consciousness Alkalosis Breathing dysregulation Cerebral edema Loss of ability to walk Cystinuria Progressive spastic quadriplegia Hyperlysinuria Oroticaciduria Diaminoaciduria Intracranial hemorrhage Strabismus Myopathy Autism Attention deficit hyperactivity disorder Vertigo Abnormal autonomic nervous system physiology Exercise intolerance Abnormality of mitochondrial metabolism Gastrointestinal dysmotility Cerebellar atrophy Dehydration Thiamine-responsive megaloblastic anemia



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