Ataxia, and Hepatosplenomegaly

Diseases related with Ataxia and Hepatosplenomegaly

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


Top matches:

Medium match X-LINKED SIDEROBLASTIC ANEMIA


X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.

X-LINKED SIDEROBLASTIC ANEMIA Is also known as anemia, hereditary sideroblastic|xlsa|anemia, hypochromic|anemia, sideroblastic, x-linked|anh1|hereditary iron-loading anemia

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Anemia
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA

Medium 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

Medium match ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME


Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

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Other less relevant matches:

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Medium match NIEMANN-PICK DISEASE, TYPE C2; NPC2


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

Medium 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

Medium match CHANARIN-DORFMAN SYNDROME; CDS


CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

Medium match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Medium match SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Top 5 symptoms//phenotypes associated to Ataxia and Hepatosplenomegaly

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anemia Spasticity Short stature Fatigue Thrombocytopenia Jaundice Peripheral neuropathy Muscle weakness

Rare Symptoms - Less than 30% cases


Brachydactyly Spastic tetraparesis Elevated serum acid phosphatase Dysarthria Intellectual disability, mild Tremor Myopathy Hemolytic anemia Mental deterioration Paralysis Muscular dystrophy Hyperreflexia Hyperbilirubinemia Purpura Hemiplegia Generalized hypotonia Dementia Sea-blue histiocytosis Edema Hypertonia Hypertriglyceridemia Nystagmus Cataract Fever Aphasia Meningitis Cirrhosis Cerebellar atrophy Elevated hepatic transaminase Motor delay Hearing impairment Hyperpigmentation of the skin Leukemia Myelodysplasia Hypoalbuminemia Encephalitis Decreased liver function Increased intracranial pressure Leukopenia Abnormality of coagulation Diplopia Hyponatremia Hypoproteinemia Increased CSF protein Increased serum ferritin Papilledema Pancytopenia Generalized edema Immune dysregulation Prolonged prothrombin time Hemophagocytosis Increased total bilirubin Hypofibrinogenemia Pallor Lymphadenopathy Tetraplegia Bone-marrow foam cells Athetosis Interstitial pulmonary abnormality Prolonged neonatal jaundice Neurofibrillary tangles Loss of speech Supranuclear gaze palsy Visceromegaly Perseveration Vertical supranuclear gaze palsy Cataplexy Fetal ascites Coma Falls Motor aphasia Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Failure to thrive Vomiting Vertigo Headache Irritability CSF pleocytosis Strabismus Stereotypy Hypopigmentation of the skin Hyperkalemia Broad neck Conjugated hyperbilirubinemia Stomatocytosis Hemoglobinuria Zonular cataract Hypoglycorrhachia Gait disturbance Abnormality of the eye Retinopathy Abnormal bleeding Inability to walk Subcutaneous nodule Cafe-au-lait spot Petechiae Autoimmune thrombocytopenia Blepharitis Pulmonary infiltrates Histiocytosis Mucopolysacchariduria Chronic myelogenous leukemia Mediastinal lymphadenopathy Delayed myelination Paraplegia Sensorineural hearing impairment Ectropion Dyspnea Ptosis Areflexia Alopecia Microtia Ichthyosis Hepatic steatosis Everted lower lip vermilion Aortic regurgitation Scaling skin Erythroderma Spastic paraplegia Congenital ichthyosiform erythroderma Abnormality of blood and blood-forming tissues Subcapsular cataract Congenital nonbullous ichthyosiform erythroderma Decreased plasma carnitine Generalized ichthyosis Microcephaly Macrocephaly Hydrocephalus Absent speech Macrotia Oral-pharyngeal dysphagia Bradykinesia Abnormal lung morphology Progressive gait ataxia Distal sensory impairment Progressive cerebellar ataxia Sensory impairment Intention tremor Frequent falls Hepatic fibrosis Sensorimotor neuropathy Foot dorsiflexor weakness Cerebellar vermis atrophy Acute hepatic failure Paresthesia Distal lower limb muscle weakness Saccadic smooth pursuit Dysmetric saccades Generalized limb muscle atrophy Stuttering Abnormality of the nervous system Myoclonus Osteopenia Abnormal pyramidal sign Ophthalmoplegia Hepatic failure Distal muscle weakness Generalized-onset seizure Tonsillitis Recurrent bacterial infections Eosinophilia Increased antibody level in blood Myeloid leukemia Acute myeloid leukemia Thrombocytosis Acute lymphoblastic leukemia Granulocytopenia Congenital neutropenia Monocytosis Agranulocytosis Abnormality of the liver Clumsiness Otitis media Skeletal muscle atrophy Optic atrophy Sepsis Talipes equinovarus Neutropenia Hyporeflexia Gait ataxia Reduced visual acuity Abnormal cerebellum morphology Bone pain Progressive neurologic deterioration Recurrent myoglobinuria Microcytic anemia Emotional lability Glucose intolerance Rhabdomyolysis Acute kidney injury Reticulocytosis Progressive encephalopathy Myoglobinuria Decreased mean corpuscular volume Increased muscle fatiguability Exercise-induced muscle cramps Megaloblastic anemia Exercise-induced myoglobinuria Muscular hypotonia Dysphagia Respiratory insufficiency Dystonia Respiratory failure Dyskinesia Neurodegeneration Bone marrow hypocellularity Psychosis Macrocytic anemia Exercise intolerance Cachexia Encephalopathy Loss of consciousness Hypersplenism Erlenmeyer flask deformity of the femurs Increased cerebral lipofuscin Pain High palate Delayed speech and language development Thiamine-responsive megaloblastic anemia Hypolipidemia Renal insufficiency Visual loss Tetraparesis Rod-cone dystrophy Abnormality of iron homeostasis Myalgia Sideroblastic anemia Hypocholesterolemia Hypochromic microcytic anemia Retinal dystrophy Anemia of inadequate production Muscle cramps Migraine Absent axillary hair



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