Hyperreflexia, and Hepatosplenomegaly

Diseases related with Hyperreflexia and Hepatosplenomegaly

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


Top 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 AICARDI-GOUTIERES SYNDROME 3; AGS3


Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 3; AGS3

Medium match GAUCHER DISEASE, TYPE II


Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

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Other less relevant matches:

Medium match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


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

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

Medium match MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Medium match GM1 GANGLIOSIDOSIS TYPE 2


GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

Medium match AMISH INFANTILE EPILEPSY 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

Medium match NIEMANN-PICK DISEASE, TYPE C1; NPC1


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

Medium match SANDHOFF DISEASE, INFANTILE FORM


Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Top 5 symptoms//phenotypes associated to Hyperreflexia and Hepatosplenomegaly

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Nystagmus Developmental regression Progressive neurologic deterioration Splenomegaly Generalized hypotonia Abnormal facial shape Fever Cerebral atrophy Thrombocytopenia Feeding difficulties Anemia Absent speech Optic atrophy Developmental stagnation Hypertonia Progressive psychomotor deterioration Babinski sign Failure to thrive Abnormality of the cerebral white matter Irritability Muscular hypotonia Spastic tetraplegia Dystonia Hypoplasia of the corpus callosum Blindness Neurodegeneration Coarse facial features Retinal degeneration Muscle weakness

Rare Symptoms - Less than 30% cases


Trismus Hepatic failure Dysphagia Skeletal muscle atrophy Hearing impairment Rigidity Paralysis Ophthalmoplegia Esotropia Supranuclear gaze palsy Aspiration Growth delay Tetraplegia Abnormality of the nervous system Macroglossia Cataract Tremor Macrocephaly Psychosis Abnormality of the liver Reduced visual acuity Myoclonus Jaundice Cerebral cortical atrophy Generalized tonic-clonic seizures Inability to walk Visual impairment Motor deterioration Strabismus Visceromegaly Motor delay Clumsiness Gait disturbance Dysarthria Loss of speech Elevated hepatic transaminase Muscular hypotonia of the trunk Progressive cerebellar ataxia Chronic diarrhea Intention tremor Fatal liver failure in infancy Delayed myelination Sea-blue histiocytosis Hemiplegia Recurrent respiratory infections Respiratory tract infection Cerebellar atrophy Cirrhosis Dementia Peripheral neuropathy Status epilepticus Abnormality of skin pigmentation Generalized-onset seizure Choreoathetosis Gingival overgrowth Increased serum lactate Cerebral visual impairment Loss of consciousness Tetraparesis Vomiting Pallor Vacuolated lymphocytes Generalized muscle weakness Generalized myoclonic seizures Abnormality of the face Paraparesis Coxa valga Spastic paraparesis Brisk reflexes Abnormality of the spleen Psychomotor deterioration Loss of ability to walk Decerebrate rigidity Feeding difficulties in infancy Lumbar kyphosis Decreased beta-galactosidase activity Scoliosis Flexion contracture Intellectual disability, severe Hypermelanotic macule Midface retrusion Hernia Visual loss Mandibular prognathia Global brain atrophy Saccadic smooth pursuit Lower limb hyperreflexia Hyperhidrosis Foam cells Vertical supranuclear gaze palsy Cataplexy Supranuclear ophthalmoplegia Bone-marrow foam cells Rapid neurologic deterioration Fetal ascites Congenital thrombocytopenia Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Urinary incontinence Spastic dysarthria Cardiomegaly Hypohidrosis Fasciculations Emotional lability Impotence Orthostatic hypotension Episodic abdominal pain Megalencephaly Upper motor neuron dysfunction Cherry red spot of the macula Abnormality of glycosphingolipid metabolism Aplasia/Hypoplasia of the abdominal wall musculature Head tremor Abnormal retinal morphology Abnormality of movement Multifocal epileptiform discharges Hyporeflexia of upper limbs Developmental stagnation at onset of seizures Cognitive impairment Intrauterine growth retardation Behavioral abnormality Pneumonia Mental deterioration Abnormal pyramidal sign Skin rash Neurological speech impairment Bruising susceptibility Neurofibrillary tangles Sleep disturbance Ascites Chorea Neuronal loss in central nervous system Oligohydramnios Mitral valve prolapse Intellectual disability, profound Schizophrenia Dysphonia Athetosis Prolonged neonatal jaundice Neonatal hypotonia Hoarse cry Platyspondyly Hemolytic anemia Oculomotor apraxia Protuberant abdomen Bulbar signs Recurrent aspiration pneumonia Short stature Brachydactyly Hydrocephalus Macrotia Spastic paraplegia Paraplegia Hyperbilirubinemia Paresthesia Hyperkalemia Broad neck Conjugated hyperbilirubinemia Stomatocytosis Hemoglobinuria Zonular cataract Hypoglycorrhachia Gait ataxia Diarrhea Recurrent infections Sepsis Distal muscle weakness Apnea Hypercholesterolemia Encephalopathy Generalized limb muscle atrophy Stuttering Distal lower limb muscle weakness Acute hepatic failure Progressive gait ataxia Cerebellar vermis atrophy Foot dorsiflexor weakness Sensorimotor neuropathy Hepatic fibrosis Frequent falls Severe global developmental delay Respiratory failure Pruritus Sensory impairment Cerebral calcification Progressive microcephaly Leukodystrophy Muscle stiffness Poor head control Lymphocytosis CSF lymphocytic pleiocytosis Distal sensory impairment Respiratory distress Sloping forehead Shock Prominent forehead Oligosacchariduria Palpebral edema Severe vision loss Abnormality of abdomen morphology Increased serum ferritin Decreased light- and dark-adapted electroretinogram amplitude Titubation Esodeviation Cerebral dysmyelination Dysplastic corpus callosum Dysmetric saccades Abnormality of mucopolysaccharide metabolism Opacification of the corneal stroma Truncal titubation Abnormality of ganglioside metabolism Pain Depressed nasal bridge Hypertension Epicanthus Ventriculomegaly Anteverted nares Kyphosis Renal insufficiency Posteriorly rotated ears Iron deficiency anemia Amblyopia Recurrent upper respiratory tract infections Complex febrile seizures Elevated alkaline phosphatase Failure to thrive in infancy Abnormality of the coagulation cascade Limb hypertonia Diffuse cerebral atrophy Thick hair Intermittent diarrhea Generalized neonatal hypotonia Recurrent infection of the gastrointestinal tract Frontotemporal cerebral atrophy Neonatal sepsis Type II transferrin isoform profile High myopia Abnormal protein O-linked glycosylation Abnormal protein N-linked glycosylation Hyporeflexia Myopia Intellectual disability, mild Skeletal dysplasia Photophobia Corneal opacity Abnormality of eye movement Talipes equinovarus Retinal dystrophy Impaired thermal sensitivity



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