Hepatomegaly, and Unsteady gait

Diseases related with Hepatomegaly and Unsteady gait

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

Top matches:

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

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

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Other less relevant matches:

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

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Medium match BETA-MANNOSIDOSIS

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

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

Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

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

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 8; JBTS8

Top 5 symptoms//phenotypes associated to Hepatomegaly and Unsteady gait

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Spasticity Cerebral atrophy Tremor Intellectual disability Generalized hypotonia Muscle weakness Splenomegaly Hepatosplenomegaly Dystonia Elevated hepatic transaminase Intention tremor Gait disturbance Fatigue Motor delay Cirrhosis Nystagmus Recurrent infections Hyperreflexia Microcephaly Myopathy Anemia Cataract Peripheral neuropathy Muscular hypotonia Recurrent respiratory infections Babinski sign

Rare Symptoms - Less than 30% cases

Hepatic steatosis Neutropenia Abnormality of movement Abnormality of the cerebral white matter Falls Hyperactivity Dysmetria Progressive cerebellar ataxia Skeletal muscle atrophy Visual loss Decreased nerve conduction velocity Myelodysplasia Hypolipidemia Neurological speech impairment Spastic tetraplegia Brachycephaly Generalized tonic-clonic seizures Impulsivity Optic disc pallor Myalgia Pallor Cerebral cortical atrophy Hyporeflexia Spastic tetraparesis Absent speech Cerebellar atrophy Jaundice Scoliosis Abnormality of the nervous system Macrocytic anemia Attention deficit hyperactivity disorder Athetosis Cardiomyopathy Short stature Abnormality of the liver Confusion Cholestasis Encephalopathy Pigmentary retinopathy Spastic paraparesis Fat malabsorption Optic atrophy Paraparesis Growth delay Distal sensory impairment Coma Visual impairment Cognitive impairment Hearing impairment Central nervous system degeneration Oligohydramnios Abnormality of iron homeostasis Involuntary movements Progressive muscle weakness Respiratory insufficiency due to muscle weakness Flexion contracture Cholelithiasis Abnormality of immune system physiology Abnormal facial shape Sideroblastic anemia Congenital hemolytic anemia Diaphragmatic paralysis Normocytic anemia Cholecystitis Normochromic anemia Abnormal posturing Chronic hemolytic anemia Nonspherocytic hemolytic anemia Abnormal pyramidal sign Neuronal loss in central nervous system Areflexia Abnormality of neutrophils Vertical nystagmus Abnormal platelet function Increased sensitivity to ionizing radiation Hyperventilation Hypoplastic anemia Acute myelomonocytic leukemia Abnormal macrophage morphology Occipital encephalocele Respiratory distress Congestive heart failure Kyphosis Molar tooth sign on MRI Dyskinesia Respiratory failure Oculomotor apraxia Encephalocele Abnormality of eye movement Abnormality of the eye Obesity Hypertonia Hypertrophic cardiomyopathy Respiratory tract infection Thiamine-responsive megaloblastic anemia Dysphagia Limb muscle weakness Hemolytic anemia Hypocholesterolemia Aggressive behavior Ventriculomegaly Vitamin D deficiency Aspartylglucosaminuria Acute leukemia Hypoplasia of the abdominal wall musculature Elevated C-reactive protein level Increased urinary disaccharide excretion Intellectual disability, mild Juvenile rheumatoid arthritis Malabsorption Slurred speech Steatorrhea Vertical supranuclear gaze palsy Joint swelling Phonic tics Uveitis Fever Abdominal pain Arthralgia Pericarditis Arthritis Autoimmunity Skin rash Lymphadenopathy Pleural effusion Rheumatoid arthritis Elevated erythrocyte sedimentation rate Tortuosity of conjunctival vessels Angiokeratoma corporis diffusum Dilatation Glucose intolerance Abnormality of metabolism/homeostasis Hypochromic microcytic anemia Anemia of inadequate production Lower limb muscle weakness Megaloblastic anemia Epileptic encephalopathy Narrow palpebral fissure Laryngomalacia Microcytic anemia Stridor Neurodevelopmental delay Hyperpigmentation of the skin Urinary glycosaminoglycan excretion Vertigo Dyspnea Pendular nystagmus Proximal amyotrophy Communicating hydrocephalus Tics Serositis Demyelinating peripheral neuropathy Anterior uveitis Subcortical cerebral atrophy Thenar muscle atrophy Angiokeratoma Gait imbalance Esophagitis Hyperactive deep tendon reflexes Aciduria Acidosis Gastroesophageal reflux Hypoglycemia Severe global developmental delay Dilated cardiomyopathy Spastic paraplegia Paraplegia Neurodegeneration Metabolic acidosis Tetraplegia Urinary incontinence Febrile seizures Failure to thrive Memory impairment Progressive visual loss Choreoathetosis Limb ataxia Leukoencephalopathy Short attention span Skeletal myopathy Abnormality of the basal ganglia 3-Methylglutaconic aciduria Nonprogressive cerebellar ataxia Testicular dysgenesis Hyperchloremic acidosis Dementia Biliary tract abnormality Strabismus Nausea Epicanthus Frontal bossing Vomiting Headache Depressivity Rod-cone dystrophy Hypogonadism Photophobia Mental deterioration Irritability Retinopathy Peripheral axonal neuropathy Sensory neuropathy Iris hypopigmentation Polyneuropathy Sensory impairment Migraine Type II diabetes mellitus Status epilepticus Hemiparesis Sensorimotor neuropathy Hypergonadotropic hypogonadism Bilateral single transverse palmar creases Apathy Agitation Atrophy/Degeneration affecting the brainstem Progressive forgetfulness Pain Impaired vibration sensation in the lower limbs Leukemia Progressive proximal muscle weakness Achalasia Speech apraxia Recurrent ear infections Muscle fiber atrophy Alacrima Right ventricular dilatation Intellectual disability, borderline Abnormal levels of creatine kinase in blood Cerebral white matter atrophy Exophoria Thrombocytopenia Postural instability Adrenal insufficiency Gliosis Decreased antibody level in blood Pancytopenia Telangiectasia Clonus Bone marrow hypocellularity Leukopenia Incoordination Aplasia/Hypoplasia of the cerebellum Ankle clonus Myeloid leukemia Acute myeloid leukemia Restrictive ventilatory defect Gowers sign Feeding difficulties Poor speech Myopia Intrauterine growth retardation Elevated serum creatine phosphokinase Constipation Hyperkeratosis Difficulty walking EEG abnormality Proximal muscle weakness Hyperlordosis Muscular dystrophy Congenital cataract Carious teeth Inability to walk Limb-girdle muscular dystrophy Muscle cramps Chorea Waddling gait Focal-onset seizure Hip dysplasia Generalized-onset seizure Apraxia Lower limb spasticity Truncal ataxia Scapular winging Infantile muscular hypotonia CNS hypomyelination Undetectable electroretinogram


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