Ataxia, and Pancytopenia

Diseases related with Ataxia and Pancytopenia

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

Top matches:

CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by Simon et al., 2016).For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (OMIM ).

Related symptoms:

  • Ataxia
  • Growth delay
  • Spasticity
  • Hypertension
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2

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

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Other less relevant matches:

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

Medium match REVESZ SYNDROME

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

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

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

cblF 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 megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ATAXIA-PANCYTOPENIA SYNDROME

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Top 5 symptoms//phenotypes associated to Ataxia and Pancytopenia

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Generalized hypotonia Methylmalonic aciduria Neutropenia Aciduria Feeding difficulties Vomiting Hepatomegaly Intrauterine growth retardation Microcephaly Lethargy Bone marrow hypocellularity Leukopenia Cerebellar hypoplasia Megaloblastic anemia Growth delay Hypertonia

Rare Symptoms - Less than 30% cases

Sparse hair Constipation Megaloblastic bone marrow Fine hair Low-set ears Nail dystrophy Muscle weakness Stomatitis Oral leukoplakia Cerebellar atrophy Dysarthria Jaundice Macrocytic anemia Decreased antibody level in blood Irritability Abnormality of the nervous system Aplasia/Hypoplasia of the cerebellum Proteinuria Nystagmus Retinopathy Unsteady gait Scoliosis Decreased adenosylcobalamin Coma Cerebral calcification Methylmalonic acidemia Homocystinuria Hypertension Splenomegaly Muscular hypotonia Incoordination Acidosis Feeding difficulties in infancy Telangiectasia Epicanthus Neurological speech impairment Leukemia High palate CSF pleocytosis Gliosis Hypofibrinogenemia Abnormality of the cerebral white matter Abnormal heart morphology Increased total bilirubin Dysmetria Hemophagocytosis Distal sensory impairment Postural instability Prolonged prothrombin time Gait ataxia Gait disturbance Thin upper lip vermilion Decreased methionine synthase activity Hyperhomocystinemia Juvenile rheumatoid arthritis Rheumatoid arthritis Decreased methylcobalamin Psychosis Abnormality of the skin Small for gestational age Cystathioninuria Recurrent respiratory infections Cystathioninemia Microtia Skin rash Hyperreflexia Developmental regression Glossitis Arthritis Babinski sign Progressive cerebellar ataxia Sensorineural hearing impairment Clonus External ophthalmoplegia Myalgia Hypertrophic cardiomyopathy Abnormality of the kidney Ophthalmoplegia Malabsorption Retinal degeneration Vertigo Pigmentary retinopathy Bilateral sensorineural hearing impairment Type II diabetes mellitus Ragged-red muscle fibers Arrhythmia Constriction of peripheral visual field Hyperglycemia Bundle branch block Vestibular dysfunction Macular dystrophy Abnormal retinal morphology Progressive sensorineural hearing impairment Glomerulopathy Retinal atrophy Abnormality of lipid metabolism Left bundle branch block Diabetes mellitus Renal insufficiency Decreased nerve conduction velocity Abnormal platelet function Myelodysplasia Ankle clonus Myeloid leukemia Acute myeloid leukemia Impaired vibration sensation in the lower limbs Hyperactive deep tendon reflexes Acute leukemia Gait imbalance Abnormality of neutrophils Vertical nystagmus Increased sensitivity to ionizing radiation Congestive heart failure Hypoplastic anemia Acute myelomonocytic leukemia Abnormal macrophage morphology Hearing impairment Generalized edema Cataract Ptosis Visual impairment Optic atrophy Cardiomyopathy Myopathy Immune dysregulation Granulocytopenia Hypoproteinemia Delayed myelination Alopecia Carious teeth Abnormality of skin pigmentation Intellectual disability, profound CNS hypomyelination Ventriculomegaly Cerebral atrophy Dilatation Pallor Neuronal loss in central nervous system Midface retrusion Generalized-onset seizure Cerebellar vermis hypoplasia Postnatal microcephaly Absence seizures Poor head control Central hypotonia Eyelid myoclonus Absence seizures with eyelid myoclonia Abnormality of metabolism/homeostasis Absent speech Short stature Broad-based gait Retinal telangiectasia Spasticity Dystonia Osteopenia Gastrointestinal hemorrhage Leukodystrophy Portal hypertension Premature graying of hair Abnormality of the vasculature Esophageal varix Respiratory distress Decreased methylmalonyl-CoA mutase activity Encephalopathy Metabolic acidosis Dehydration Hyperammonemia Abnormality of mitochondrial metabolism Ketosis Ketonuria Abnormality of the mitochondrion Hyperglycinemia Progressive neurologic deterioration Hyperpigmentation of the skin Papilledema Diplopia Agranulocytosis Fever Edema Headache Hepatosplenomegaly Elevated hepatic transaminase Lymphadenopathy Tetraplegia Hypertriglyceridemia Decreased liver function Congenital neutropenia Meningitis Increased intracranial pressure Encephalitis Hypoalbuminemia Hemiplegia Hyponatremia Abnormality of coagulation Increased CSF protein Increased serum ferritin Vitamin B12 deficiency Reticulocytopenia Purpura Diarrhea Megalocornea Aplastic anemia Nail pits Ridged fingernail Leukocoria Reticulated skin pigmentation Exudative retinopathy Fine, reticulate skin pigmentation Intellectual disability, severe Immunodeficiency Abnormality of chromosome stability Recurrent infections Respiratory tract infection Abnormal bleeding Lymphopenia IgA deficiency Acute kidney injury IgG deficiency Abnormality of the mouth Agammaglobulinemia IgM deficiency Abnormal chorioretinal morphology


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