Hyperreflexia, and Cirrhosis

Diseases related with Hyperreflexia and Cirrhosis

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

Top matches:

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

CITRULLINEMIA, CLASSIC Is also known as ass deficiency|argininosuccinate synthetase deficiency|citrullinemia, type i|ctln1|citrullinuria

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CITRULLINEMIA, CLASSIC

Other less relevant matches:

Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY

Medium match COG4-CDG

COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij|cdg-iij|cdg syndrome type iij|cdg2j|congenital disorder of glycosylation type iij|congenital disorder of glycosylation type 2j|cdgiij|cdg iij

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG4-CDG

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Medium match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

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

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Hyperreflexia and Cirrhosis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Cirrhosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Intellectual disability Tremor Growth delay Splenomegaly Nystagmus Hepatic steatosis Encephalopathy Cerebral atrophy Elevated hepatic transaminase Hypertonia Failure to thrive Feeding difficulties Abnormality of the nervous system Myoclonus Developmental regression Micronodular cirrhosis Myopathy Neuronal loss in central nervous system Hepatic failure Headache Thrombocytopenia Stroke Microcephaly Abnormality of the coagulation cascade Psychosis Edema Diarrhea Behavioral abnormality Abnormality of the eye Mental deterioration Cognitive impairment Dysarthria Gait disturbance

Rare Symptoms - Less than 30% cases

Hydrocephalus Inflammatory abnormality of the skin Jaundice Dementia Abnormality of eye movement Anemia Nephropathy Delusions Wide mouth Insomnia Abnormality of the liver Hallucinations Migraine Apnea Aciduria Apraxia Confusion Cerebellar hypoplasia Anteverted nares Feeding difficulties in infancy Visual impairment Ophthalmoplegia Fever Sepsis Muscular hypotonia of the trunk Elevated alkaline phosphatase Skin rash Multicystic kidney dysplasia Hepatosplenomegaly Absent speech Hypoplasia of the corpus callosum Hypertelorism Chronic diarrhea Abnormal facial shape Ptosis Strabismus Portal hypertension Fatal liver failure in infancy Aminoaciduria Cholestasis Neonatal hypotonia Macrocephaly Ascites Irritability Hypertension Abnormal pyramidal sign Respiratory tract infection Coarse facial features Gait ataxia Respiratory failure Dystonia Cerebellar atrophy Visual loss Loss of speech Mitochondrial myopathy Ragged-red muscle fibers Delayed myelination Lactic acidosis Malabsorption Acidosis Narrow mouth Sleep disturbance Pneumonia Vomiting Hemoglobinuria Downslanted palpebral fissures Gliosis Low-set ears Seborrheic dermatitis Scoliosis Low cholesterol esterification rates Abnormal cholesterol homeostasis Breech presentation Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Fetal ascites Rapid neurologic deterioration Bone-marrow foam cells Supranuclear ophthalmoplegia Frontal bossing Posteriorly rotated ears Cataplexy Abnormality of the kidney Oral cleft Epileptic spasms Prominent nasal bridge Webbed neck Coloboma Pierre-Robin sequence Cardiorespiratory arrest High anterior hairline Renal insufficiency Vesicoureteral reflux Intellectual disability, moderate Polydactyly Agenesis of corpus callosum Developmental stagnation Inguinal hernia Dilatation Intellectual disability, severe Hemolytic anemia Central hypotonia Tetraplegia Intention tremor Intellectual disability, profound Spastic tetraplegia Mitral valve prolapse Oligohydramnios Chorea Neurodegeneration Clumsiness Bruising susceptibility Retinal degeneration Abnormality of movement Abnormality of the cerebral white matter Birth length greater than 97th percentile Generalized tonic-clonic seizures Neurological speech impairment Progressive neurologic deterioration Schizophrenia Duplicated collecting system Triangular mouth Generalized myoclonic seizures Vertical supranuclear gaze palsy Visceromegaly Foam cells Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Alveolar ridge overgrowth Dysphonia Supranuclear gaze palsy Head tremor Trismus Neurofibrillary tangles Olfactory lobe agenesis Prolonged neonatal jaundice Athetosis Stage 5 chronic kidney disease Downturned corners of mouth Patent ductus arteriosus Scaling skin Widely spaced teeth Cleft palate Micrognathia Deep philtrum Redundant skin Hearing impairment Intrahepatic biliary atresia Gingival overgrowth Chronic hepatic failure Cerebral cortical atrophy Multiple small medullary renal cysts Aplasia/Hypoplasia of the cerebellar vermis Abnormal pattern of respiration Congenital hepatic fibrosis Abnormality of the hypothalamus-pituitary axis Cerebral visual impairment Tall stature Esophageal varix Depressed nasal bridge Obesity Malar flattening Long philtrum Short nose Atrial septal defect Short neck High palate Postnatal microcephaly Limb undergrowth Generalized-onset seizure Upslanted palpebral fissure Hypsarrhythmia Small nail Flexion contracture Large fontanelles Cholestatic liver disease Neoplasm of the liver Absent septum pellucidum Wide nose Oculomotor apraxia Prominent occiput Hepatic fibrosis Encephalocele Cerebellar vermis hypoplasia Postaxial hand polydactyly Intestinal malrotation Short distal phalanx of finger Round face Renal cyst Highly arched eyebrow Infantile spasms Retinal dystrophy Iris coloboma Long face Aplasia/Hypoplasia of the corpus callosum Chronic kidney disease Overgrowth Nephronophthisis Optic nerve coloboma Abnormality of abdomen morphology Biparietal narrowing Occipital encephalocele Microdontia Micropenis Polyhydramnios Epileptic encephalopathy Chorioretinal coloboma Molar tooth sign on MRI Overfolded helix Retrognathia Ichthyosis Abnormality of neuronal migration Large for gestational age Aplasia/Hypoplasia of the cerebellum Gastrointestinal hemorrhage Retinal hemorrhage Paralysis Cerebral edema Protein avoidance Hypoargininemia Respiratory alkalosis Oroticaciduria Delayed menarche Mania Hepatic encephalopathy Enuresis Episodic ammonia intoxication Echolalia Ankle clonus Loss of consciousness Slurred speech Increased intracranial pressure Hyperammonemia Cerebral palsy Hyperglutaminemia Hypoglycemia Coma Severe lactic acidosis Depletion of mitochondrial DNA in liver Abnormal conjugate eye movement Hepatocellular necrosis Periportal fibrosis Generalized aminoaciduria Decreased activity of mitochondrial respiratory chain Episodic vomiting Hypothermia Polyneuropathy Severe failure to thrive Progressive external ophthalmoplegia Hyponatremia Hypoalbuminemia External ophthalmoplegia Hyperbilirubinemia Metabolic acidosis Clonus Lethargy Recurrent respiratory infections Brain atrophy Abnormal activity of mitochondrial respiratory chain Gastrointestinal dysmotility Exertional dyspnea Glucose intolerance Exercise intolerance Blue sclerae Increased serum lactate Triangular face Respiratory insufficiency Paresthesia Poor speech Dyspnea Babinski sign Hyporeflexia Cardiomyopathy Muscle weakness Delayed speech and language development Hyperactivity Respiratory distress Limb dystonia Motor delay Reduced intraabdominal adipose tissue Poor motor coordination Caudate atrophy Progressive psychomotor deterioration Generalized lipodystrophy Progressive encephalopathy Reduced subcutaneous adipose tissue Status epilepticus Brisk reflexes Hyperinsulinemia Lipodystrophy Acanthosis nigricans Generalized hirsutism Insulin resistance Hypertriglyceridemia Tetraparesis Recurrent infections Sloping forehead Dysphagia Short stature Vertigo Unsteady gait Anxiety EEG abnormality Photophobia Gastroesophageal reflux Depressivity Punctate vasculitis skin lesions Cutaneous photosensitivity Diminished ability to concentrate Progressive forgetfulness Focal white matter lesions Vasculitis in the skin Retinal exudate Central nervous system degeneration Limb pain Abnormal blistering of the skin Diplopia Brain neoplasm Mood changes Intrauterine growth retardation Neutral hyperaminoaciduria Grasp reflex Glabellar reflex Hyperphenylalaninemia Neural tube defect Glossitis Abnormal urinary color Hypopigmented skin patches Methylmalonic aciduria Episodic ataxia Bruxism Gingivitis Irregular hyperpigmentation Emotional lability Encephalitis Abnormality of vision Abnormality of the retinal vasculature Macular edema Hypercholesterolemia Recurrent infection of the gastrointestinal tract Neoplasm Abnormal protein N-linked glycosylation Abnormal protein O-linked glycosylation Type II transferrin isoform profile Complex febrile seizures Neonatal sepsis Frontotemporal cerebral atrophy Generalized neonatal hypotonia Reduced visual acuity Intermittent diarrhea Thick hair Diffuse cerebral atrophy Limb hypertonia Failure to thrive in infancy Recurrent upper respiratory tract infections Shock Pain Proteinuria Raynaud phenomenon Vasculitis Chronic sinusitis Aseptic necrosis Abnormality of the periventricular white matter Glomerulopathy Lower limb hyperreflexia Elevated erythrocyte sedimentation rate Leukoencephalopathy Leukodystrophy Retinopathy Sinusitis Telangiectasia Hemiparesis Progressive visual loss Memory impairment Sensory impairment Hematuria Lower limb muscle weakness Abnormality of the pons


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