Ataxia, and Thrombocytopenia

Diseases related with Ataxia and Thrombocytopenia

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


Top matches:

Low match ACTION MYOCLONUS-RENAL FAILURE SYNDROME


Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.

ACTION MYOCLONUS-RENAL FAILURE SYNDROME Is also known as myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epm4|amrf|action myoclonus-renal failure syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Anemia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTION MYOCLONUS-RENAL FAILURE SYNDROME

Low match LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC


Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC Is also known as labrune syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC

Low match VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB


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 cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; 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 ), and cblF (OMIM ).

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

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Other less relevant matches:

Low match ABETALIPOPROTEINEMIA


Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

Low match CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE


Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Is also known as dihydrofolate reductase deficiency|dhfr deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

Low 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

Low match TRANSCOBALAMIN DEFICIENCY


Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

TRANSCOBALAMIN DEFICIENCY Is also known as transcobalamin ii deficiency|inherited deficiency of transcobalamin|tc ii deficiency|tcn2 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSCOBALAMIN DEFICIENCY

Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2


Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2|hlh2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS


NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Top 5 symptoms//phenotypes associated to Ataxia and Thrombocytopenia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Pancytopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Vomiting Aciduria Tremor Failure to thrive Muscular hypotonia Irritability Methylmalonic aciduria Lethargy Dysarthria Acidosis Generalized-onset seizure Hypertonia Cerebellar atrophy Coma Hepatomegaly Feeding difficulties

Rare Symptoms - Less than 30% cases


Encephalopathy Feeding difficulties in infancy Metabolic acidosis Respiratory distress Visual impairment Neutropenia Hepatosplenomegaly Tetraplegia Leukoencephalopathy Fever Diarrhea Rod-cone dystrophy Leukopenia Ventriculomegaly Cerebral atrophy Jaundice Muscle weakness Delayed myelination Megaloblastic anemia Growth delay Hemiplegia Hyperammonemia Lactic acidosis Abnormality of movement Proteinuria Myoclonus Spasticity Gait disturbance Osteopenia Abnormal pyramidal sign Dystonia Peripheral neuropathy Hypoalbuminemia Stomatitis Macrocytic anemia Athetosis Abnormal bleeding Decreased antibody level in blood Lymphopenia Exotropia IgA deficiency Agammaglobulinemia Acute kidney injury IgG deficiency Granulocytopenia Reticulocytopenia Abnormality of the nervous system Abnormality of chromosome stability Abnormality of the mouth IgM deficiency Respiratory tract infection Intellectual disability, severe Recurrent infections Hyperventilation Eczema Inflammatory abnormality of the skin Multifocal seizures Diffuse cerebral atrophy Anorexia Tachypnea Epileptic spasms Organic aciduria Brisk reflexes Keratoconjunctivitis Desquamation of skin soon after birth Congenital lactic acidosis Perioral eczema Limb hypertonia Amblyopia Immunodeficiency Generalized amyotrophy Congenital neutropenia Hypofibrinogenemia Spastic tetraplegia Optic atrophy Hypoproteinemia Nausea and vomiting Aggressive behavior Generalized edema Rigidity Hypoglycemia Absent speech Cardiomyopathy Skeletal muscle atrophy Increased serum ferritin Intrauterine growth retardation Hyperreflexia Delayed speech and language development Immune dysregulation Prolonged prothrombin time Nystagmus CSF pleocytosis Hemophagocytosis Papilledema Muscular hypotonia of the trunk Increased serum lactate Dysmetria Increased total bilirubin Vitamin B12 deficiency Agranulocytosis Edema Splenomegaly Headache Elevated hepatic transaminase Lymphadenopathy Hypertriglyceridemia Increased CSF protein Neurological speech impairment Diplopia Decreased liver function Meningitis Increased intracranial pressure Encephalitis Hyponatremia Abnormality of coagulation Megaloblastic bone marrow Abetalipoproteinemia Hypotrichosis Abnormality of the vasculature Inability to walk Gliosis Gastrointestinal hemorrhage Cerebral calcification Abnormality of extrapyramidal motor function Hemiparesis Leukodystrophy Loss of speech Dehydration Mental deterioration Abnormality of mitochondrial metabolism Ketosis Ketonuria Abnormality of the mitochondrion Homocystinuria Hyperglycinemia Methylmalonic acidemia Decreased adenosylcobalamin Abnormality of the cerebral white matter Mild proteinuria Fatigue Nephrotic syndrome Dysphagia Renal insufficiency Dementia Gait ataxia Unsteady gait Stage 5 chronic kidney disease Falls Nephropathy Intention tremor Abnormal glycosylation Decreased nerve conduction velocity Glomerulosclerosis Postural tremor Focal segmental glomerulosclerosis Glomerulopathy Action tremor Demyelinating peripheral neuropathy Normochromic anemia Decreased methylmalonyl-CoA mutase activity Intellectual disability, mild Skin rash Neuronal loss in central nervous system Hypocholesterolemia Decreased LDL cholesterol concentration Increased HDL cholesterol concentration Steatocystoma multiplex Microcephaly Dilatation Cerebellar hypoplasia Pallor Cerebellar vermis hypoplasia Acanthocytosis Postnatal microcephaly Absence seizures Poor head control Central hypotonia Eyelid myoclonus Absence seizures with eyelid myoclonia Alopecia Weight loss Fat malabsorption Renal cell carcinoma Ophthalmoplegia Increased cerebral lipofuscin Abnormal cerebellum morphology Bone pain Spastic tetraparesis Cachexia Loss of consciousness Hypersplenism Erlenmeyer flask deformity of the femurs Elevated serum acid phosphatase Carcinoma Abnormality of the coagulation cascade Abnormality of the liver Malabsorption Retinal degeneration Hepatic failure Hepatic steatosis Peripheral demyelination Chronic diarrhea Abnormality of retinal pigmentation Reduced tendon reflexes Mitochondrial encephalopathy



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