Hepatomegaly, and Chorea

Diseases related with Hepatomegaly and Chorea

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

Top matches:

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Other less relevant matches:

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

AMISH INFANTILE EPILEPSY SYNDROME Is also known as epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|gm3 synthase deficiency|salt and pepper mental retardation syndrome|amish infantile epilepsy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMISH INFANTILE EPILEPSY SYNDROME

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

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, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 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).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Top 5 symptoms//phenotypes associated to Hepatomegaly and Chorea

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Choreoathetosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Dysarthria

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases

Thrombocytopenia Splenomegaly Cardiomyopathy Failure to thrive Abnormality of movement Muscular hypotonia Optic atrophy Coma Ataxia Hepatosplenomegaly Dementia Neutropenia Hyperreflexia Progressive neurologic deterioration Neurological speech impairment Dyskinesia Neurodegeneration Immunodeficiency Microcephaly Generalized hypotonia Neuronal loss in central nervous system Memory impairment Clumsiness Abnormality of the cerebral white matter Mental deterioration Dysphagia Dilated cardiomyopathy Generalized-onset seizure Myoclonus Depressivity Growth delay Respiratory distress Renal insufficiency Lethargy Nausea and vomiting Pancreatitis Hyperammonemia Myopathy Behavioral abnormality Gait disturbance Athetosis

Rare Symptoms - Less than 30% cases

Fatigue Confusion Bipolar affective disorder Emotional lability Abnormal pyramidal sign Acidosis Spastic tetraplegia Parkinsonism Short stature Hyporeflexia of upper limbs Postural instability Rigidity Schizophrenia Cerebral atrophy Hypertonia Urinary incontinence Orofacial dyskinesia Tetraplegia Tremor Paralysis Intrauterine growth retardation Metabolic acidosis Motor delay Encephalopathy Gait ataxia Tetraparesis Retinal degeneration Generalized tonic-clonic seizures Hearing impairment Aciduria Developmental regression Psychosis Paraparesis Spastic tetraparesis Nystagmus Spasticity Visual loss Vomiting Atrial fibrillation Motor axonal neuropathy Hemolytic anemia Areflexia Personality disorder Arrhythmia Involuntary movements Stroke Sepsis Peripheral neuropathy Leukoencephalopathy Muscle weakness Abnormality of the liver Dehydration Acanthocytosis Tics Feeding difficulties Elevated serum creatine phosphokinase Anxiety Recurrent infections Pneumonia Obsessive-compulsive behavior Fever Rhabdomyolysis Delayed CNS myelination Homocystinuria Hyperglycinemia Abnormality of the kidney Stage 5 chronic kidney disease Nephropathy Ischemic stroke Diabetes mellitus Leukopenia Skeletal muscle atrophy Pancytopenia Macrocytic anemia Methylmalonic aciduria Organic aciduria Ketonuria Tubulointerstitial nephritis Micrographia Respiratory insufficiency Lewy bodies Abnormality of extrapyramidal motor function Broad-based gait Muscle stiffness Slurred speech Dysdiadochokinesis Oral-pharyngeal dysphagia Mask-like facies Abnormality of neuronal migration Basal ganglia calcification Progressive encephalopathy Frontotemporal dementia Abnormal lower motor neuron morphology Dense calcifications in the cerebellar dentate nucleus Calcinosis Focal dystonia Pseudohypoparathyroidism Alcoholism Mood swings Subcutaneous hemorrhage Limb dysmetria Focal motor seizures Tubulointerstitial abnormality Progressive choreoathetosis Pill-rolling tremor Calcification of the small brain vessels Methylmalonic acidemia Chronic metabolic acidosis Abnormal globus pallidus morphology Spastic paraplegia Fetal ascites Congenital thrombocytopenia Sea-blue histiocytosis Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Fatal liver failure in infancy Cataract Delayed speech and language development Hyperactivity Gastroesophageal reflux Hypoglycemia Severe global developmental delay Paraplegia Bone-marrow foam cells Unsteady gait Progressive cerebellar ataxia Febrile seizures Progressive visual loss Limb ataxia Spastic paraparesis Short attention span Skeletal myopathy Abnormality of the basal ganglia 3-Methylglutaconic aciduria Nonprogressive cerebellar ataxia Testicular dysgenesis Hyperchloremic acidosis Rapid neurologic deterioration Supranuclear ophthalmoplegia Cerebellar hemorrhage Oligohydramnios Cerebral calcification Metabolic ketoacidosis Renal tubular dysfunction Jaundice Neonatal hypotonia Abnormality of the nervous system Skin rash Ophthalmoplegia Cirrhosis Bruising susceptibility Sleep disturbance Ascites Hemiplegia/hemiparesis Mitral valve prolapse Cataplexy Intellectual disability, profound Intention tremor Dysphonia Prolonged neonatal jaundice Neurofibrillary tangles Loss of speech Trismus Head tremor Supranuclear gaze palsy Spastic dysarthria Aplasia/Hypoplasia of the abdominal wall musculature Foam cells Visceromegaly Vertical supranuclear gaze palsy Bradykinesia Gingivitis Muscular dystrophy Ventricular fibrillation Paresthesia Sensory neuropathy Otitis media Decreased antibody level in blood Left ventricular hypertrophy Hallucinations Sensorimotor neuropathy Cardiac arrest Sleep apnea Ventricular arrhythmia Personality changes Autoimmunity Sensory axonal neuropathy Lower limb muscle weakness Bowel incontinence Impaired vibration sensation in the lower limbs Impaired pain sensation Restlessness Insomnia Ventricular extrasystoles Left bundle branch block Supraventricular tachycardia Carcinoma Excessive salivation Hyporeflexia of lower limbs Increased muscle fatiguability Recurrent otitis media Chronic diarrhea Impaired temperature sensation Agranulocytosis Cholangitis Stomatitis IgM deficiency Chronic hepatitis Dysgammaglobulinemia Increased IgM level Sclerosing cholangitis Cholangiocarcinoma Decreased T cell activation Impaired Ig class switch recombination Absence of lymph node germinal center Enlarged tonsils Opportunistic infection Elevated hepatic transaminase IgE deficiency Impaired memory B cell generation Recurrent lower respiratory tract infections IgG deficiency Hepatocellular carcinoma IgA deficiency Congestive heart failure Encephalitis Babinski sign Hyperhidrosis Dyspnea Recurrent bacterial infections Generalized limb muscle atrophy Abnormal social behavior Gliosis Hypertension Abetalipoproteinemia Gingival overgrowth Cerebral visual impairment Loss of consciousness Global brain atrophy Hypermelanotic macule Lower limb hyperreflexia Abnormal retinal morphology Developmental stagnation Multifocal epileptiform discharges Developmental stagnation at onset of seizures Pain Aspiration pneumonia Increased serum lactate Abnormality of the musculature Ventriculomegaly Headache EMG abnormality Aspiration Agammaglobulinemia Corneal opacity Cardiomegaly Dysmetria Vertigo Ichthyosis Abnormal cerebellum morphology Status epilepticus Macroglossia Abnormal lactate dehydrogenase activity Visual impairment Caudate atrophy Abnormal corpus striatum morphology Recurrent singultus Blood group antigen abnormality Abnormal facial expression Weight loss Abnormality of the astrocytes Diarrhea Scoliosis Anorexia Abnormal facial shape Flexion contracture Intellectual disability, severe Inability to walk Blindness Midface retrusion Absent speech Hernia Cerebral cortical atrophy Mandibular prognathia Coarse facial features Feeding difficulties in infancy Abdominal pain Irritability Pallor Phonic tics Abnormality of skin pigmentation Progressive forgetfulness


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