Hepatomegaly, and Spastic paraplegia

Diseases related with Hepatomegaly and Spastic paraplegia

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

Top matches:

High 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

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

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Other less relevant matches:

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

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

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

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

Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

High match SCHEIE SYNDROME

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Spastic paraplegia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Paraplegia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Spastic paraparesis Microcephaly Spasticity Encephalopathy Peripheral neuropathy Hepatosplenomegaly Paraparesis Generalized hypotonia Lymphadenopathy Abnormality of movement Tremor Hypertension Neurodegeneration Visual impairment Nystagmus Cataract Spastic tetraplegia Anemia Abnormality of the liver Jaundice Recurrent infections Optic atrophy Dysarthria Rigidity Dystonia Tetraplegia Irritability Growth delay Feeding difficulties Hyperreflexia Gait disturbance Vomiting Coma Hypertonia Developmental regression Elevated hepatic transaminase

Rare Symptoms - Less than 30% cases

Toe walking Fever Sensorimotor neuropathy Mental deterioration Thrombocytopenia Skin rash Abnormality of the cerebral white matter Gastrointestinal hemorrhage Brain atrophy Hypertriglyceridemia Agitation Vasculitis Spastic tetraparesis Cerebral palsy Cutis marmorata Hemiparesis Iris hypopigmentation Peripheral axonal neuropathy Failure to thrive Neutropenia Muscle stiffness Parkinsonism Confusion Cardiomyopathy Myopathy Edema Unsteady gait Headache Gait ataxia Nausea Hyperactivity Cerebral atrophy Hepatic steatosis Absent speech Bradykinesia Abnormality of extrapyramidal motor function Pancytopenia Myalgia Cirrhosis Joint stiffness Foot dorsiflexor weakness Leukopenia Short stature Sensory neuropathy Difficulty walking Postnatal growth retardation Polyneuropathy Athetosis Dilatation Cerebral hemorrhage Abnormality of the skeletal system Lower limb muscle weakness Hyperbilirubinemia Photophobia Immunodeficiency Aphasia Central retinal artery occlusion Retinal arterial occlusion Granulocytopenia Erythema nodosum Hypercoagulability Lupus anticoagulant Pure red cell aplasia Stroke Ophthalmoplegia Thrombocytosis Raynaud phenomenon Combined immunodeficiency Decreased antibody level in blood Antiphospholipid antibody positivity Purpura Ischemic stroke Hemiplegia Elevated erythrocyte sedimentation rate Immune dysregulation Panniculitis Leukocytosis Papule Peripheral demyelination Lymphoma Decreased nerve conduction velocity Gingival bleeding Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Albinism Melanocytic nevus Abnormality of vision Periodontitis Cranial nerve paralysis Skin ulcer Hyperpigmentation of the skin Amblyopia Cutaneous photosensitivity Epistaxis Hypopigmentation of the skin Abnormal bleeding Gingivitis Fair hair Arthritis Abnormal leukocyte morphology Abdominal pain Pain Bruising susceptibility Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Oculogyric crisis Generalized hypopigmentation Recurrent bacterial skin infections Macular hypoplasia Partial albinism Hypersplenism Progressive peripheral neuropathy Hemophagocytosis Spinocerebellar tract degeneration White hair Hypofibrinogenemia Truncal ataxia Epicanthus Pes cavus Retinal degeneration Genu valgum Corneal opacity Wide mouth Apnea Coarse facial features Skeletal dysplasia Mandibular prognathia Glaucoma Short neck Thick vermilion border Depressed nasal bridge Sensorineural hearing impairment Abnormality of divalent inorganic cation homeostasis Abnormal transferrin saturation Copper accumulation in liver Increased total iron binding capacity Decreased serum ferritin Pica Abnormality of amino acid metabolism Wide nose Everted lower lip vermilion Abnormal globus pallidus morphology Dysostosis multiplex Cervical cord compression Urinary glycosaminoglycan excretion Abnormal nerve conduction velocity Mucopolysacchariduria Abnormality of peripheral nerve conduction Constrictive median neuropathy Spondylolisthesis Broad face Mitral stenosis Spinal cord compression Full cheeks Obstructive sleep apnea Rhinitis Stridor Sleep apnea Aortic regurgitation Situs inversus totalis Aortic valve stenosis Limitation of joint mobility Syncope Abnormal basal ganglia MRI signal intensity Vitamin E deficiency Frontal bossing Intention tremor Hypertrophic cardiomyopathy Pneumonia Biliary tract abnormality Fat malabsorption Atrophy/Degeneration affecting the brainstem Apathy Bilateral single transverse palmar creases Hypergonadotropic hypogonadism Cholestasis Status epilepticus Postural instability Type II diabetes mellitus Pigmentary retinopathy Migraine Sensory impairment Distal sensory impairment Retinopathy Hypogonadism Rod-cone dystrophy Depressivity Dysmetria Gliosis Unconjugated hyperbilirubinemia Hypomimic face Micronodular cirrhosis Hepatic encephalopathy Hyperglycinemia Abnormal myelination Poor fine motor coordination Prolonged prothrombin time Astrocytosis Esophageal varix Echolalia Action tremor Neuronal loss in central nervous system Generalized dystonia Limb dystonia Polycythemia Axonal loss Abnormality of coagulation Steppage gait Emotional lability Portal hypertension Dysdiadochokinesis Decreased liver function Falls Supraventricular tachycardia Paresthesia Chilblains Gastroesophageal reflux Acidosis Dementia Visual loss Motor delay Delayed speech and language development Cognitive impairment Hearing impairment Serositis Severe global developmental delay Atopic dermatitis Basal ganglia calcification Progressive spastic paraplegia Pericardial effusion Increased antibody level in blood Progressive microcephaly Lower limb spasticity Progressive neurologic deterioration Hypoglycemia Dilated cardiomyopathy Nephrotic syndrome Skeletal myopathy Muscle weakness Scoliosis Progressive forgetfulness Hyperchloremic acidosis Testicular dysgenesis Nonprogressive cerebellar ataxia 3-Methylglutaconic aciduria Abnormality of the basal ganglia Short attention span Metabolic acidosis Leukoencephalopathy Limb ataxia Choreoathetosis Progressive visual loss Memory impairment Febrile seizures Aciduria Urinary incontinence Progressive cerebellar ataxia Tetraparesis Abnormality of eye movement Dysphagia Tachypnea Cerebral edema Breathing dysregulation Reduced consciousness/confusion Alkalosis Loss of consciousness Spastic diplegia Hemiplegia/hemiparesis Hyperammonemia Aminoaciduria Cystinuria Anorexia Talipes Limb muscle weakness Nausea and vomiting Lethargy Neurological speech impairment EEG abnormality Behavioral abnormality Intellectual disability, severe Loss of ability to walk Progressive spastic quadriplegia Muscular hypotonia of the trunk Hyperkalemia Alopecia Intrauterine growth retardation Hypoglycorrhachia Zonular cataract Hemoglobinuria Stomatocytosis Conjugated hyperbilirubinemia Broad neck Delayed myelination Hyperlysinuria Hemolytic anemia Inability to walk Macrotia Hydrocephalus Macrocephaly Brachydactyly Diaminoaciduria Respiratory alkalosis Oroticaciduria Flexion contracture Talipes equinovarus Leukemia Protuberant abdomen Dysmenorrhea Atlantoaxial dislocation Prolonged QTc interval Generalized lipodystrophy Ileus Exercise-induced myalgia Prominent superficial veins Progressive proximal muscle weakness IgA deficiency Fasting hyperinsulinemia Secondary amenorrhea Lipoatrophy Spinal rigidity Reduced subcutaneous adipose tissue Prolonged QT interval Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Ventricular fibrillation Loss of subcutaneous adipose tissue in limbs Abnormal levels of creatine kinase in blood Lipodystrophy Strabismus Abnormality of the eye Reduced visual acuity Recurrent respiratory infections Hyporeflexia Areflexia Cerebellar atrophy Atrial septal defect Skeletal muscle atrophy Neoplasm Polymorphic ventricular tachycardia Adipose tissue loss Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Congenital generalized lipodystrophy Atlantoaxial instability Failure to thrive in infancy Hyperinsulinemia Congestive heart failure Hyperlordosis Growth hormone deficiency Sudden cardiac death Generalized muscle weakness Hirsutism Tachycardia Muscular dystrophy Distal muscle weakness Protruding ear Proximal muscle weakness Ventricular hypertrophy Neonatal hypotonia Osteopenia Hypothyroidism Diabetes mellitus Osteoporosis Constipation Delayed skeletal maturation Elevated serum creatine phosphokinase Arrhythmia Epidermal acanthosis Atrial fibrillation Prominent supraorbital ridges Hyperlipidemia Pyloric stenosis Polycystic ovaries Ventricular arrhythmia Reduced bone mineral density Delayed gross motor development Ventricular tachycardia Pancreatitis Atherosclerosis Acanthosis nigricans Palpitations Accelerated skeletal maturation Recurrent bacterial infections Exercise intolerance Pointed chin Bradycardia Sparse and thin eyebrow Insulin resistance Long eyelashes Thin skin Tricuspid atresia


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