Ataxia, and Neutropenia

Diseases related with Ataxia and Neutropenia

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


Top matches:

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

Low match NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3


Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 3


3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

3-METHYLGLUTACONIC ACIDURIA TYPE 3 Is also known as optic atrophy, infantile, with chorea and spastic paraplegia|mga3|iraqi-jewish 'optic atrophy plus'|opa3, autosomal recessive|costeff syndrome|autosomal recessive optic atrophy type 3|optic atrophy 3, autosomal recessive|optic atrophy plus syndrome|autoso

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 3

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Other less relevant matches:

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

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 GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA


Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).

GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA Is also known as 5-oxoprolinuria|pyroglutamic aciduria

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


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

Low match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Low match ATAXIA-PANCYTOPENIA SYNDROME


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

Low match NEONATAL GLYCINE ENCEPHALOPATHY


Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Top 5 symptoms//phenotypes associated to Ataxia and Neutropenia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Aciduria Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Seizures Failure to thrive Muscular hypotonia Vomiting Abnormality of the nervous system Acidosis Spasticity Lethargy Pancytopenia Leukopenia Methylmalonic aciduria Dysarthria Babinski sign Gait disturbance Recurrent bacterial infections Feeding difficulties Gait ataxia Splenomegaly Motor delay Hyperreflexia

Rare Symptoms - Less than 30% cases


Homocystinuria Respiratory distress Decreased antibody level in blood Optic atrophy Macrocytic anemia Chorea Microcephaly Choreoathetosis Restlessness Spastic diplegia Irritability Recurrent infections Behavioral abnormality Incoordination Immunodeficiency Spastic tetraparesis Hyperglycinemia Tetraparesis Intellectual disability, severe Encephalopathy Decreased adenosylcobalamin Methylmalonic acidemia Lymphopenia Feeding difficulties in infancy Delayed speech and language development Megaloblastic bone marrow Stomatitis Muscle weakness Metabolic acidosis Coma Nystagmus Tremor Megaloblastic anemia Agranulocytosis Bone marrow hypocellularity Myeloid leukemia Cerebellar atrophy Acute myeloid leukemia Myelodysplasia Peripheral neuropathy Hyporeflexia Otitis media Granulocytopenia Congenital neutropenia Sepsis Falls Leukemia Distal sensory impairment Recurrent opportunistic infections Autoimmune neutropenia Abnormal T cell morphology Pure red cell aplasia Abnormality of B cell physiology Cerebral vasculitis Brain abscess Lymph node hypoplasia Cataract Scoliosis Recurrent respiratory infections Neurological speech impairment Abnormality of the cerebral white matter Dysmetria Unsteady gait Postural instability Progressive cerebellar ataxia Hypouricemia Recurrent lower respiratory tract infections Impaired T cell function Pneumonia Juvenile rheumatoid arthritis Glossitis Hyperhomocystinemia Decreased methylcobalamin Decreased methionine synthase activity Cystathioninuria Cystathioninemia Edema Abnormal pyramidal sign Recurrent viral infections Tetraplegia Lymphoma Spastic tetraplegia Recurrent urinary tract infections Sinusitis Recurrent upper respiratory tract infections Autoimmune hemolytic anemia Autoimmune thrombocytopenia Telangiectasia Gliosis Hyperactive deep tendon reflexes Clonus Impulsivity Intellectual disability, moderate Apnea Autistic behavior Attention deficit hyperactivity disorder Severe global developmental delay Intellectual disability, profound Hypsarrhythmia Limb ataxia Poor suck Infantile spasms Neonatal hypotonia Weak cry Ketoacidosis Vertical supranuclear gaze palsy Hyperglycinuria Posterior fossa cyst Delirium Nonketotic hyperglycinemia Episodic ketoacidosis Recurrent singultus Aggressive behavior Autism Decreased nerve conduction velocity Increased sensitivity to ionizing radiation Aplasia/Hypoplasia of the cerebellum Ankle clonus Impaired vibration sensation in the lower limbs Areflexia Acute leukemia Gait imbalance Abnormality of neutrophils Vertical nystagmus Abnormal platelet function Hypoplastic anemia Hyperactivity Acute myelomonocytic leukemia Abnormal macrophage morphology Hypertension Hypoplasia of the corpus callosum Hydrocephalus Intellectual disability, mild Visual loss Agenesis of corpus callosum Myoclonus Rheumatoid arthritis Thin upper lip vermilion Psychosis Ketonuria Segmental peripheral demyelination Peripheral axonal degeneration Segmental peripheral demyelination/remyelination Dehydration Sensory ataxia Hyperammonemia Abnormality of mitochondrial metabolism Ketosis Onion bulb formation Hepatosplenomegaly Abnormality of the mitochondrion Decreased number of peripheral myelinated nerve fibers Axonal degeneration Focal segmental glomerulosclerosis Steppage gait Decreased methylmalonyl-CoA mutase activity Glomerulosclerosis Diarrhea Frequent falls Hearing impairment Hepatomegaly Proteinuria Abnormality of movement Tonsillitis Cognitive impairment Visual impairment Monocytosis Cardiomyopathy Acute lymphoblastic leukemia Reduced visual acuity Spastic paraplegia Paraplegia Clumsiness Thrombocytosis Abnormality of extrapyramidal motor function Horizontal nystagmus Paraparesis Spastic paraparesis Increased antibody level in blood 3-Methylglutaconic aciduria Eosinophilia Meningitis Peripheral demyelination Sensory impairment Abnormality of the skin Increased level of L-pyroglutamic acid in urine Pes cavus Progressive neurologic deterioration Renal tubular acidosis Increased reactive oxygen species production Compensated hemolytic anemia Chronic metabolic acidosis Glutathione synthetase deficiency Psychotic mentation Low-set ears Pigmentary retinopathy High palate Epicanthus Abnormal heart morphology Short stature Arthritis Developmental regression Skin rash Microtia Small for gestational age Intention tremor Hemolytic anemia Respiratory tract infection Paresthesia Abnormal bleeding Sensory neuropathy Distal amyotrophy IgA deficiency Acute kidney injury IgG deficiency Abnormality of the mouth Agammaglobulinemia Peripheral axonal neuropathy IgM deficiency Nausea Abnormality of chromosome stability Reticulocytopenia Lower limb muscle weakness Vitamin B12 deficiency Abnormality of the foot Limb muscle weakness Fatigue Hypertonia Distal muscle weakness Pill-rolling tremor



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