Ataxia, and Combined immunodeficiency

Diseases related with Ataxia and Combined immunodeficiency

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


Top matches:

Medium 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

Medium match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1


Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Medium 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

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Other less relevant matches:

Medium match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Medium match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Low match NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER


Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER Is also known as microcephaly and chromosomal instability without immunodeficiency|nbsld|microcephaly and spontaneous chromosome instability without immunodeficiency|nbs-like disorder|rad50 deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

Low match MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ


Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Is also known as epileptic encephalopathy, early infantile, 10|eiee10

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

Low match ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH


Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). Genetic Heterogeneity of Ataxia-Oculomotor ApraxiaSee also AOA2 (OMIM ), caused by mutation in the SETX gene (OMIM ) on chromosome 9q34; AOA3 (OMIM ), caused by mutation in the PIK3R5 gene (OMIM ) on chromosome 17p; and AOA4 (OMIM ), caused by mutation in the PNKP gene (OMIM ) on chromosome 19q13.

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH Is also known as eoca-ha|aoa|ataxia-oculomotor apraxia syndrome|ataxia-oculomotor apraxia 1|aoa1|cerebellar ataxia, early-onset, with hypoalbuminemia|ataxia-telangiectasia-like syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH

Low match SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1


Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1 Is also known as scan1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1

Low match LYMPHOMA, HODGKIN, CLASSIC; CHL


Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease

Related symptoms:

  • Ataxia
  • Neoplasm
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHOMA, HODGKIN, CLASSIC; CHL

Top 5 symptoms//phenotypes associated to Ataxia and Combined immunodeficiency

Symptoms // Phenotype % cases
Immunodeficiency Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Telangiectasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Lymphoma Short stature Leukemia Dysarthria Microcephaly Gait ataxia Skeletal muscle atrophy Anemia Cerebellar atrophy Global developmental delay Recurrent infections Scoliosis Lymphopenia Generalized hypotonia Recurrent respiratory infections Failure to thrive Abnormality of the nervous system Distal amyotrophy Hemolytic anemia Cognitive impairment Hyporeflexia Progressive cerebellar ataxia Hypoalbuminemia Apraxia Oculomotor apraxia Cellular immunodeficiency Muscle weakness Severe combined immunodeficiency Bronchiectasis Abnormality of the liver Leukopenia Skin rash Splenomegaly Nystagmus Elevated hepatic transaminase Lymphadenopathy Fever Hepatomegaly Pancytopenia

Rare Symptoms - Less than 30% cases


Sinusitis B-cell lymphoma Polyneuropathy Sensory neuropathy Abnormality of chromosome stability Peripheral axonal neuropathy Ophthalmoplegia Pes cavus Areflexia Chorea Tremor Cafe-au-lait spot Recurrent bronchitis Pneumonia Dystonia Choreoathetosis Mental deterioration T-cell lymphoma Limb ataxia Truncal ataxia Acute leukemia Hodgkin lymphoma Recurrent pneumonia Hypercholesterolemia Decreased antibody level in blood Spinocerebellar tract degeneration Distal muscle weakness Hepatosplenomegaly Hemiplegia Spasticity Abnormality of the hair Purpura Vasculitis Pain Myoclonus Respiratory tract infection Thrombocytopenia Encephalopathy Granulocytopenia Acute lymphoblastic leukemia Gaze-evoked nystagmus Hyperactivity Respiratory insufficiency Sensory axonal neuropathy Aplasia/Hypoplasia of the skin Resting tremor Malar prominence Gait disturbance Dysgammaglobulinemia Multiple cafe-au-lait spots Telangiectasia of the skin Abnormality of the immune system Penoscrotal hypospadias Myeloid leukemia Prematurely aged appearance IgA deficiency Hypopigmentation of hair Anorectal anomaly Premature graying of hair Intention tremor Glucose intolerance Unsteady gait Diabetes mellitus Difficulty walking Carcinoma Anxiety Flexion contracture Neurological speech impairment Delayed puberty Strabismus Abnormality of eye movement Hepatocellular carcinoma Abnormal cerebellum morphology Athetosis Hepatitis Progressive vitiligo Type II diabetes mellitus Abnormal vertebral morphology Reduced tendon reflexes Cerebral palsy Breast carcinoma Slurred speech Polycystic ovaries Mastoiditis Spinal muscular atrophy Abnormality of movement Aplasia/Hypoplasia of the thymus Recurrent lower respiratory tract infections Limb fasciculations Impaired vibration sensation in the lower limbs Axonal loss Cerebellar vermis atrophy Global brain atrophy Steppage gait Sensorimotor neuropathy Brain atrophy Peripheral axonal degeneration Spastic dysarthria Facial grimacing Hypometric saccades Decreased number of large peripheral myelinated nerve fibers Progressive external ophthalmoplegia Axonal degeneration Impaired vibratory sensation External ophthalmoplegia Distal lower limb muscle weakness Pain insensitivity Distal sensory impairment Bone pain Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Lung adenocarcinoma Poor appetite Hemoptysis Osteolysis Bone marrow hypocellularity Anorexia Impaired distal proprioception Migraine Chest pain Pruritus Cough Weight loss Hyperhidrosis Fatigue Fasciculations Dementia Chromosome breakage Neoplasm of the breast Pollakisuria Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Chronic myelogenous leukemia Non-Hodgkin lymphoma Conjunctival telangiectasia Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Lymphoproliferative disorder Abnormality of the testis Renal neoplasm Mucosal telangiectasiae Progressive spinal muscular atrophy Cortical gyral simplification Ventriculomegaly Progressive microcephaly Epileptic encephalopathy Febrile seizures Absent speech Behavioral abnormality Intellectual disability, severe Hypoplasia of the corpus callosum Motor delay Immunoglobulin IgG2 deficiency Chromosomal breakage induced by ionizing radiation Hypopigmentation of the skin Hypermetropia Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Recurrent infection of the gastrointestinal tract Abnormality of the face B lymphocytopenia Hyperbilirubinemia Abnormality of the coagulation cascade Albinism Hyponatremia Encephalitis Eosinophilia Increased intracranial pressure Meningitis Episodic fever Aspiration Hypertriglyceridemia Peripheral demyelination Gliosis Sepsis Tetraplegia Increased antibody level in blood Pulmonary infiltrates Hepatic failure Increased LDL cholesterol concentration Polyneuritis CSF pleocytosis Hypofibrinogenemia Increased VLDL cholesterol concentration Increased total bilirubin Partial albinism Hemophagocytosis Increased CSF protein Histiocytosis Prolonged prothrombin time Decreased HDL cholesterol concentration Generalized edema Prolonged partial thromboplastin time Hypoproteinemia Increased serum ferritin Coma Confusion Lipogranulomatosis Stroke Cutis marmorata Ischemic stroke Foot dorsiflexor weakness Hemiparesis Paraplegia Papule Arthritis Leukocytosis Myalgia Abdominal pain Dilatation Headache Optic atrophy Hypertension Cerebral hemorrhage Agitation Irritability Pure red cell aplasia Jaundice Hypertonia Muscular hypotonia Central retinal artery occlusion Retinal arterial occlusion Lupus anticoagulant Panniculitis Aphasia Antiphospholipid antibody positivity Erythema nodosum Immune dysregulation Hypercoagulability Raynaud phenomenon Thrombocytosis Elevated erythrocyte sedimentation rate Plasmacytosis Abnormal natural killer cell physiology Decrease in T cell count Amenorrhea Chronic diarrhea Recurrent urinary tract infections Choanal atresia Primary amenorrhea Cutaneous photosensitivity Sloping forehead Convex nasal ridge Cachexia Otitis media Prominent nose Neurodegeneration Cleft upper lip Anal atresia Small for gestational age Low anterior hairline Deep philtrum Attention deficit hyperactivity disorder Hearing abnormality Abnormal hair quantity Rhabdomyosarcoma Glioma Medulloblastoma Recurrent sinopulmonary infections Abnormal eyelid morphology Anal stenosis Premature ovarian insufficiency Neuroblastoma Autoimmune hemolytic anemia Abnormality of the musculature Freckling Long nose Non-midline cleft lip Abnormality of neuronal migration Prominent nasal bridge Intellectual disability, moderate Hearing impairment Neutropenia Recurrent skin infections Narrow palpebral fissure Inflammatory abnormality of the skin Eczema Sensory impairment Asthma Erythema Atopic dermatitis Conductive hearing impairment Gastroesophageal reflux Abnormality of the skeletal system Brachydactyly High palate Abnormal facial shape Sensorineural hearing impairment Glomerulonephritis Allergic rhinitis Hydronephrosis Short neck Retrognathia Macrotia Respiratory failure Upslanted palpebral fissure Hypospadias Diarrhea Intrauterine growth retardation Membranoproliferative glomerulonephritis Depressed nasal bridge Cleft palate Micrognathia Growth delay Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Polyclonal elevation of IgM



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Agenesis of corpus callosum, related diseases and genetic alterations Spasticity and Vomiting, related diseases and genetic alterations Peripheral neuropathy and Hepatosplenomegaly, related diseases and genetic alterations Failure to thrive and Atopic dermatitis, related diseases and genetic alterations Micrognathia and Myalgia, related diseases and genetic alterations

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