Ataxia, and Decreased antibody level in blood

Diseases related with Ataxia and Decreased antibody level in blood

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


Top matches:

Low match ATAXIA-OCULOMOTOR APRAXIA TYPE 1


Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

ATAXIA-OCULOMOTOR APRAXIA TYPE 1 Is also known as aoa1|atld

Related symptoms:

  • Ataxia
  • Nystagmus
  • Neoplasm
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 1

Low match MOHR-TRANEBJAERG SYNDROME


Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.

MOHR-TRANEBJAERG SYNDROME Is also known as deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness-dystonia-optic atrophy syndrome|deafness-dystonia-optic neuronopathy syndrome|dystonia-deafness syndrome|ddon syndrome|opticoacoustic nerve atrophy with de

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MOHR-TRANEBJAERG SYNDROME

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

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Other less relevant matches:

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 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 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS


Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Low 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

Low match RIDDLE SYNDROME


A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Low match VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Low match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

Top 5 symptoms//phenotypes associated to Ataxia and Decreased antibody level in blood

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Pancytopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Decreased antibody level in blood. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Leukopenia IgA deficiency Intellectual disability Seizures Global developmental delay Generalized hypotonia Peripheral neuropathy Gait ataxia Increased sensitivity to ionizing radiation Vomiting Dysarthria Thrombocytopenia Irritability Neutropenia Tremor Gait disturbance Macrocytic anemia IgG deficiency Hyperreflexia Abnormality of the nervous system Microcephaly Abdominal pain Telangiectasia

Rare Symptoms - Less than 30% cases


Agammaglobulinemia Abnormality of the cerebral white matter Malabsorption Weight loss Behavioral abnormality Recurrent infections Nystagmus Arthritis Respiratory tract infection Headache Abnormal facial shape Lymphopenia Recurrent respiratory infections Short stature Chronic diarrhea Elevated hepatic transaminase Thrombocytosis Megaloblastic anemia Stomatitis IgM deficiency Splenomegaly Granulocytopenia Scoliosis Vitamin B12 deficiency Folate deficiency Pneumonia Cerebral calcification Sensorineural hearing impairment Dystonia Dysphagia Optic atrophy Dysmetria Gliosis Progressive cerebellar ataxia Abnormal cerebellum morphology Cerebellar atrophy Hearing impairment Neoplasm Chronic fatigue Bronchitis Scaling skin Recurrent pneumonia Emotional lability Clumsiness Pulmonary fibrosis Restrictive ventilatory defect Interstitial pulmonary abnormality Chronic sinusitis Recurrent sinusitis Episodic fever Specific learning disability Mild global developmental delay Recurrent viral infections Demyelinating peripheral neuropathy Conjunctival telangiectasia Generalized lymphadenopathy Elevated alpha-fetoprotein Enuresis nocturna Intraventricular hemorrhage Neonatal asphyxia Chromosomal breakage induced by ionizing radiation Poor hand-eye coordination Pain Abnormal lung morphology Depressivity Otitis media Cheilitis Recurrent urinary tract infections Anorexia Aspiration Increased body weight Eosinophilia Recurrent upper respiratory tract infections Athetosis Abnormality of the immune system Basal ganglia calcification Drowsiness Proximal amyotrophy Normocytic anemia Dry skin Oral ulcer Vitamin D deficiency Glossitis Folate-responsive megaloblastic anemia Abnormality of the abdominal wall Prolonged prothrombin time Respiratory failure Recurrent aphthous stomatitis Hepatomegaly Prolonged partial thromboplastin time Erythema Hypertension Hepatosplenomegaly Fever Polyneuropathy Elevated erythrocyte sedimentation rate Hypocalcemia Hypoplasia of dental enamel Inflammatory abnormality of the skin Raynaud phenomenon Eczema Lymphoma Nevus Hypercoagulability Immune dysregulation Abdominal distention Erythema nodosum Infertility Focal-onset seizure Antiphospholipid antibody positivity Delayed puberty Autoimmunity Postnatal growth retardation Panniculitis Anxiety Pure red cell aplasia Arthralgia Osteoporosis Lupus anticoagulant Retinal arterial occlusion Central retinal artery occlusion Alopecia Aphasia Type I diabetes mellitus Iron deficiency anemia Ophthalmoplegia Dilatation Fatigue Thyroiditis Celiac disease Steatorrhea Malnutrition Abnormality of the coagulation cascade Myalgia Abnormality of the liver Skin rash Stroke Papule Paraplegia Agitation Lymphadenopathy Hemiparesis Foot dorsiflexor weakness Vasculitis Purpura Ischemic stroke Hemiplegia Cutis marmorata Rickets Abnormal intestine morphology Cerebral hemorrhage Spontaneous abortion Leukocytosis Combined immunodeficiency Anteverted nares Sepsis Methylmalonic aciduria Progressive sensorineural hearing impairment Optic neuropathy Abnormal posturing Basal ganglia gliosis Postlingual sensorineural hearing impairment Muscle weakness Intellectual disability, severe Proteinuria Lethargy Abnormal bleeding Aciduria Acute kidney injury Abnormality of the mouth Abnormality of chromosome stability Increased susceptibility to fractures Reticulocytopenia Congenital neutropenia Megaloblastic bone marrow Agranulocytosis Growth delay Cardiomyopathy Congestive heart failure Cerebral atrophy Rod-cone dystrophy Lactic acidosis Neurodegeneration Nephrocalcinosis Aminoaciduria Constriction of peripheral visual field Abnormal electroretinogram Microcytic anemia Impaired smooth pursuit Renal insufficiency Hyporeflexia Myoclonus Distal amyotrophy Chorea Apraxia Cerebellar vermis hypoplasia Frequent falls Lower limb spasticity Oculomotor apraxia Dysdiadochokinesis Gaze-evoked nystagmus Nephronophthisis Hypometric saccades Cerebral visual impairment Medial flaring of the eyebrow Spasticity Visual impairment Myopia Blindness Visual loss Dementia Hyperactivity Cerebral cortical atrophy Reduced visual acuity Photophobia Mental deterioration Neuronal loss in central nervous system Brittle hair Anemia of inadequate production Dyskinesia Joint hypermobility Feeding difficulties Delayed speech and language development Epicanthus Brachydactyly Wide nasal bridge Absent speech Clinodactyly Constipation Thin upper lip vermilion Joint laxity Attention deficit hyperactivity disorder Synophrys Poor speech Highly arched eyebrow Low-set ears Pachygyria Cortical gyral simplification Atonic seizures Protruding tongue Muscular hypotonia Motor delay Skeletal muscle atrophy Hypertonia Gastroesophageal reflux Feeding difficulties in infancy Pallor Nausea and vomiting Abnormality of movement High palate Ptosis Hypochromic microcytic anemia Aplasia/Hypoplasia of the cerebellum Sideroblastic anemia Schistocytosis Babinski sign Neurological speech impairment Leukemia Unsteady gait Distal sensory impairment Postural instability Clonus Bone marrow hypocellularity Incoordination Decreased nerve conduction velocity Myelodysplasia Ankle clonus Micrognathia 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 Hypoplastic anemia Acute myelomonocytic leukemia Abnormal macrophage morphology Hypertelorism Vitamin K deficiency



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