Ataxia, and Lymphopenia

Diseases related with Ataxia and Lymphopenia

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


Top matches:

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 CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME


Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

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

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Other less relevant matches:

Low 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

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 FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

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

Low match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Ataxia and Lymphopenia

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

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Anemia Immunodeficiency Thrombocytopenia Abnormality of the nervous system Microcephaly Splenomegaly Neutropenia Vomiting Irritability Hearing impairment Pneumonia Tetraplegia Motor delay Lethargy Fever Diarrhea Pancytopenia Muscular hypotonia Decreased antibody level in blood Sensorineural hearing impairment Proteinuria

Rare Symptoms - Less than 30% cases


Hyperreflexia Neoplasm Hypoalbuminemia Delayed speech and language development Optic atrophy Behavioral abnormality Coma Babinski sign Nystagmus Lymphoma Spastic tetraplegia Hypertriglyceridemia Autistic behavior Recurrent bacterial infections Encephalopathy Spastic diplegia Autoimmune neutropenia Hypertonia Edema Autism Hyperactivity Peripheral neuropathy Growth delay Agenesis of corpus callosum Hyponatremia Muscle weakness Intellectual disability, severe Recurrent infections Respiratory tract infection Aciduria Lymphadenopathy Bone marrow hypocellularity Scoliosis Encephalitis Jaundice Dysarthria Stomatitis Recurrent respiratory infections Myoclonus Strabismus Headache Hepatomegaly Hyporeflexia Cerebral atrophy Unsteady gait Gait disturbance Cerebellar atrophy Leukemia Abnormality of the cerebral white matter Telangiectasia Dysmetria Gliosis Progressive cerebellar ataxia Postural instability Vasculitis in the skin Cortical myoclonus Distal sensory impairment Gait ataxia Neurological speech impairment Narrow palpebral fissure Membranoproliferative glomerulonephritis Conductive hearing impairment Primary hypothyroidism Diffuse mesangial sclerosis Steroid-resistant nephrotic syndrome Congenital nephrotic syndrome Absent testis Short stature Abnormal facial shape Cognitive impairment High palate Brachydactyly Abnormality of the skeletal system Gastroesophageal reflux Erythema Allergic rhinitis Hemolytic anemia Asthma Sensory impairment Eczema Inflammatory abnormality of the skin Bronchiectasis Vasculitis Incoordination Recurrent skin infections Glomerulonephritis Combined immunodeficiency Atopic dermatitis Severe combined immunodeficiency Clonus Hypoplasia of the corpus callosum Decreased nerve conduction velocity Pill-rolling tremor Impulsivity Infantile spasms Weak cry Restlessness Ketoacidosis Hyperglycinemia Vertical supranuclear gaze palsy Hyperglycinuria Posterior fossa cyst Delirium Nonketotic hyperglycinemia Episodic ketoacidosis Recurrent singultus Ventriculomegaly Limb ataxia Microphthalmia Alopecia Weight loss Coloboma Iris coloboma Febrile seizures Aspiration Delayed gross motor development Breast carcinoma Hypoventilation Aspiration pneumonia Diffuse cerebral atrophy Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Poor suck Choreoathetosis Myelodysplasia Abnormal macrophage morphology Aplasia/Hypoplasia of the cerebellum 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 Abnormal platelet function Increased sensitivity to ionizing radiation Hypoplastic anemia Acute myelomonocytic leukemia Feeding difficulties Hypsarrhythmia Hypertension Adrenal insufficiency Hydrocephalus Intellectual disability, mild Visual loss Acidosis Neonatal hypotonia Aggressive behavior Intellectual disability, moderate Apnea Attention deficit hyperactivity disorder Severe global developmental delay Chorea Intellectual disability, profound Primary adrenal insufficiency Increased serum ferritin Focal segmental glomerulosclerosis Hypouricemia Tremor Abnormal pyramidal sign Otitis media Tetraparesis Recurrent urinary tract infections Sinusitis Spastic tetraparesis Recurrent upper respiratory tract infections Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Recurrent viral infections Impaired T cell function Pure red cell aplasia Schistocytosis Abnormal T cell morphology Recurrent opportunistic infections Cerebral vasculitis Brain abscess Lymph node hypoplasia Abnormality of B cell physiology Pain Fatigue Respiratory insufficiency Respiratory distress Renal insufficiency Arrhythmia Abdominal pain Spasticity Sideroblastic anemia Arthralgia Congenital neutropenia Abnormal bleeding Macrocytic anemia IgA deficiency Acute kidney injury IgG deficiency Abnormality of the mouth Agammaglobulinemia Megaloblastic anemia Methylmalonic aciduria IgM deficiency Abnormality of chromosome stability Reticulocytopenia Granulocytopenia Megaloblastic bone marrow Hypochromic microcytic anemia Vitamin B12 deficiency Agranulocytosis Cardiomyopathy Congestive heart failure Rod-cone dystrophy Lactic acidosis Neurodegeneration Abnormal cerebellum morphology Nephrocalcinosis Aminoaciduria Brittle hair Microcytic anemia Anemia of inadequate production Respiratory failure Myalgia Focal impaired awareness seizure Ptosis Hemiplegia Abnormality of coagulation Increased CSF protein Papilledema Hypoproteinemia Generalized edema Immune dysregulation Prolonged prothrombin time Hemophagocytosis Increased total bilirubin Hypofibrinogenemia CSF pleocytosis Cryptorchidism Hypogonadism Meningitis Micropenis Hypothyroidism Hypoglycemia Mental deterioration Developmental regression Retinopathy Ichthyosis Stage 5 chronic kidney disease Focal-onset seizure Nephrotic syndrome Epidermal acanthosis Hypocalcemia Glomerulosclerosis Increased intracranial pressure Decreased liver function Cough Shock Nausea and vomiting Confusion Nausea Hematuria Sepsis Chest pain Migraine Hypotension Hepatitis Abnormal lung morphology Anorexia Hallucinations Pancreatitis Restrictive ventilatory defect Diplopia Cellulitis Pericarditis Hemoptysis Pulmonary infiltrates Myocarditis Chronic lung disease Reduced consciousness/confusion Recurrent pharyngitis Abnormality of the pleura Chills Endocarditis Hepatosplenomegaly Elevated hepatic transaminase Uraciluria



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Joint hypermobility, related diseases and genetic alterations Myopathy and Facial asymmetry, related diseases and genetic alterations Cognitive impairment and Paresthesia, related diseases and genetic alterations Cleft palate and Ventriculomegaly, related diseases and genetic alterations Scoliosis and Brachycephaly, related diseases and genetic alterations Seizures and Agenesis of corpus callosum, related diseases and genetic alterations

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