Ataxia, and Hepatomegaly

Diseases related with Ataxia and Hepatomegaly

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


Top matches:

Medium match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

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 JOUBERT SYNDROME 8; JBTS8


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 8; JBTS8

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Other less relevant matches:

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

Medium 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

Medium 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

Medium match CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE


Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Is also known as dihydrofolate reductase deficiency|dhfr deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

Medium match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2


Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Medium match ARGININEMIA


Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

ARGININEMIA Is also known as arg1 deficiency|arginase deficiency|hyperargininemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ARGININEMIA

Medium match ARGININOSUCCINIC ACIDURIA


Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

ARGININOSUCCINIC ACIDURIA Is also known as argininosuccinic acid lyase deficiency|asa deficiency|argininosuccinase deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|asl deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ARGININOSUCCINIC ACIDURIA

Top 5 symptoms//phenotypes associated to Ataxia and Hepatomegaly

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

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

Uncommon Symptoms - Between 30% and 50% cases


Encephalopathy Lethargy Anemia Feeding difficulties Coma Aciduria Hyperammonemia Splenomegaly Spasticity Cirrhosis Gait ataxia

Rare Symptoms - Less than 30% cases


Respiratory distress Peripheral neuropathy Hyperreflexia Fever Respiratory alkalosis Optic atrophy Cerebellar atrophy Abnormality of the liver Hepatic fibrosis Anorexia Oroticaciduria Cerebral edema Edema Alkalosis Developmental regression Tachypnea Feeding difficulties in infancy Aminoaciduria Irritability Pancytopenia Hyperventilation EEG abnormality Hyperactivity Methylmalonic aciduria Hyperglycinemia Microcephaly Poor head control Thrombocytopenia Failure to thrive Intellectual disability, mild Muscle weakness Megaloblastic anemia Pallor Hepatosplenomegaly Fatigue Elevated hepatic transaminase Hypertonia Absent speech Muscular hypotonia Jaundice Hypolipidemia Behavioral abnormality Postnatal growth retardation Abnormality of extrapyramidal motor function Leukodystrophy Neurological speech impairment Malnutrition Decreased activity of mitochondrial respiratory chain Decreased activity of the pyruvate dehydrogenase complex Nonketotic hyperglycinemia Hepatic steatosis Intellectual disability, severe Growth delay Cholestasis Gait disturbance Steatorrhea Slurred speech Epileptic encephalopathy Abnormality of the eye Lactic acidosis Eyelid myoclonus Neuronal loss in central nervous system Generalized-onset seizure Cerebellar vermis hypoplasia Postnatal microcephaly Absence seizures Vertical supranuclear gaze palsy Central hypotonia Absence seizures with eyelid myoclonia Dilated cardiomyopathy Flexion contracture Visual impairment Cardiomyopathy Myoclonus Respiratory failure Nausea and vomiting Hypertrophic cardiomyopathy Fat malabsorption Spastic paraplegia Talipes Limb muscle weakness Decreased liver function Diaminoaciduria Short stature Cognitive impairment Hypertension Alopecia Scarring Attention deficit hyperactivity disorder Febrile seizures Intellectual disability, progressive Hyperlysinuria Brittle hair Increased reactive oxygen species production Dry hair Trichorrhexis nodosa Abnormal hair quantity Hypoargininemia Protein avoidance Hyperglutaminemia Delayed speech and language development Progressive spastic quadriplegia Paraplegia Spastic paraparesis Lower limb muscle weakness Cerebellar hypoplasia Nausea Tetraplegia Spastic tetraplegia Muscle stiffness Paraparesis Dysmetria Cerebral palsy Cystinuria Malabsorption Athetosis Hemiplegia/hemiparesis Spastic diplegia Loss of consciousness Abnormality of the nervous system Reduced consciousness/confusion Breathing dysregulation Loss of ability to walk Delayed myelination Decreased adenosylcobalamin Dilatation Progressive gait ataxia Sensory impairment Intention tremor Frequent falls Hypocholesterolemia Sensorimotor neuropathy Foot dorsiflexor weakness Cerebellar vermis atrophy Acute hepatic failure Distal sensory impairment Distal lower limb muscle weakness Saccadic smooth pursuit Dysmetric saccades Generalized limb muscle atrophy Stuttering Neoplasm Respiratory insufficiency Hyperhidrosis Progressive cerebellar ataxia Hepatic failure Skin rash Motor delay Pigmentary retinopathy Optic disc pallor Encephalocele Oculomotor apraxia Molar tooth sign on MRI Occipital encephalocele Undetectable electroretinogram Obesity Skeletal muscle atrophy Paresthesia Thiamine-responsive megaloblastic anemia Tremor Talipes equinovarus Abnormality of iron homeostasis Hyporeflexia Reduced visual acuity Sideroblastic anemia Distal muscle weakness Weight loss Cough Cerebral atrophy Abnormality of mitochondrial metabolism Hyperpigmentation of the skin Acidosis Falls Vertigo Metabolic acidosis Neutropenia Dehydration Dyspnea Ketosis Glucose intolerance Ketonuria Abnormality of the mitochondrion Homocystinuria Methylmalonic acidemia Abnormality of eye movement Decreased methylmalonyl-CoA mutase activity Vitamin D deficiency Ventriculomegaly Myelodysplasia Microcytic anemia Leukemia Osteolysis Pruritus Lymphadenopathy Chest pain Lymphoma Migraine Hypochromic microcytic anemia Bone pain Bone marrow hypocellularity Hodgkin lymphoma Macrocytic anemia Hemoptysis Poor appetite Cellular immunodeficiency Lung adenocarcinoma Monoclonal immunoglobulin M proteinemia Impaired lymphocyte transformation with phytohemagglutinin Polyclonal elevation of IgM Anemia of inadequate production Episodic ammonia intoxication



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