Hyperreflexia, and Jaundice

Diseases related with Hyperreflexia and Jaundice

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10B; PBD10B

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

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

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 DPAGT1-CDG

DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

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

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

CEREBROTENDINOUS XANTHOMATOSIS Is also known as cerebral cholesterinosis|sterol 27-hydroxylase deficiency|ctx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEREBROTENDINOUS XANTHOMATOSIS

Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Top 5 symptoms//phenotypes associated to Hyperreflexia and Jaundice

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Anemia

Uncommon Symptoms - Between 30% and 50% cases

Spasticity

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Elevated hepatic transaminase Hepatomegaly Intellectual disability Muscular hypotonia Cataract Abnormality of the liver Tremor Thrombocytopenia Cerebral atrophy Hepatosplenomegaly Hypertonia Ascites Dystonia Abnormal pyramidal sign Anteverted nares Neuronal loss in central nervous system Intention tremor Oligohydramnios Neonatal hypotonia Developmental regression Congenital cataract Respiratory insufficiency Growth delay Micrognathia Cerebral calcification Intellectual disability, profound Progressive neurologic deterioration Feeding difficulties High palate Muscular hypotonia of the trunk Ataxia Spastic paraplegia Prolonged neonatal jaundice Low-set ears

Rare Symptoms - Less than 30% cases

Flexion contracture Generalized tonic-clonic seizures Strabismus Cryptorchidism Hypertelorism Cholelithiasis Abnormal facial shape Dysarthria Purpura Neurological speech impairment Optic disc pallor Abnormality of the cerebral white matter Abnormality of movement Aggressive behavior Neurodegeneration Failure to thrive Tetraplegia Edema Petechiae Inverted nipples Abnormality of the nervous system Ophthalmoplegia Cirrhosis Hepatic failure Narrow mouth Metabolic acidosis Skin rash Cognitive impairment Ventriculomegaly Cardiomyopathy Intrauterine growth retardation Dysphagia Behavioral abnormality Pneumonia Muscle weakness Hyperbilirubinemia Dementia Peripheral neuropathy Skeletal muscle atrophy Delayed myelination Gait disturbance Myoclonus Cerebral visual impairment Respiratory distress Myopathy Recurrent respiratory infections Paraplegia Pallor Respiratory tract infection Hypertrophic cardiomyopathy Apnea Cholestasis Cerebral cortical atrophy Hemolytic anemia Cerebellar hypoplasia Joint stiffness Diabetes mellitus Generalized-onset seizure Osteopenia Full cheeks Hypogonadism Progressive cerebellar ataxia Cerebellar vermis hypoplasia Generalized myoclonic seizures Coarse facial features Malabsorption Narrow forehead Hirsutism Tapered finger Hypsarrhythmia Abnormal cerebellum morphology Truncal ataxia Agenesis of corpus callosum Frontotemporal dementia Myelopathy Myocardial infarction Chronic diarrhea Decreased HDL cholesterol concentration Precocious atherosclerosis Xanthomatosis Angina pectoris Nephrolithiasis Xanthelasma Delusions Abnormality of the periventricular white matter Agitation Abnormality of vision Hallucinations Hypercholesterolemia Atherosclerosis Pseudobulbar paralysis Giant cell hepatitis Obesity Tuberous xanthoma Parkinsonism Blindness Hypoplasia of the corpus callosum Abnormality of the skeletal system Optic atrophy Ptosis Abnormality of central somatosensory evoked potentials Joint dislocation Juvenile cataract Hepatitis Abnormality of extrapyramidal motor function Abnormality of the dentate nucleus Palatal myoclonus EMG: axonal abnormality Frontal lobe dementia Abnormality of cholesterol metabolism Tendon xanthomatosis EEG with generalized slow activity Camptodactyly Hypertrichosis Thoracic hypoplasia Nonimmune hydrops fetalis Fetal akinesia sequence Cardiorespiratory arrest Distal arthrogryposis Congenital ichthyosiform erythroderma Hypokinesia Opisthotonus Abnormality of coagulation Multiple joint contractures Congenital nonbullous ichthyosiform erythroderma Neonatal respiratory distress Akinesia Apathy Pleural effusion Congenital contracture Ectropion Intracranial hemorrhage Poor suck Overlapping fingers Abnormality of the larynx Hydrops fetalis Desquamation of skin soon after birth Enlarged fetal cisterna magna Abnormality of the microglia Hydropic placenta Low voltage EEG Abnormality of the small intestine Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Sudden episodic apnea Myocardial necrosis Abnormality of the spleen Hepatic necrosis Abnormality of the spinal cord Severe hydrops fetalis Generalized hyperkeratosis Everted upper lip vermilion Extramedullary hematopoiesis Pneumothorax Astrocytosis Knee flexion contracture Thickened skin Gingival overgrowth Long palpebral fissure Hyperkeratosis Short nose Talipes equinovarus Depressed nasal bridge Tented philtrum Microalbuminuria Primitive reflex Thin bony cortex Pathologic fracture Polyhydramnios Cortical gyral simplification Brisk reflexes Overfolded helix Deep philtrum CNS hypomyelination Tented upper lip vermilion Scrotal hypoplasia Narrow palate Proptosis Retrognathia Abnormality of the face Abnormal bleeding Open mouth Depressed nasal ridge Interphalangeal joint contracture of finger Pancytopenia Cardiomegaly Decreased fetal movement Underdeveloped nasal alae Premature birth Triangular face Low-set, posteriorly rotated ears Everted lower lip vermilion High, narrow palate Pulmonary hypoplasia Ichthyosis Abnormality of eye movement Arthrogryposis multiplex congenita Microtia Abnormality of the pinna EEG abnormality Abnormality of the eye Cataplexy Osteoporosis Chronic hemolytic anemia Hypoglycemia Acidosis Encephalopathy Vomiting Central nervous system degeneration Congenital hemolytic anemia Abnormal posturing Lactic acidosis Normochromic anemia Nonspherocytic hemolytic anemia Cholecystitis Normocytic anemia Diaphragmatic paralysis Abnormality of immune system physiology Feeding difficulties in infancy Hepatic steatosis Decreased nerve conduction velocity Mitochondrial myopathy Generalized aminoaciduria Decreased activity of mitochondrial respiratory chain Episodic vomiting Severe lactic acidosis Hypothermia Severe failure to thrive Progressive external ophthalmoplegia Polyneuropathy Abnormality of the coagulation cascade Hyponatremia Portal hypertension Hypoalbuminemia Ragged-red muscle fibers External ophthalmoplegia Aminoaciduria Macrocytic anemia Respiratory insufficiency due to muscle weakness Periportal fibrosis Brachydactyly Hyperkalemia Inability to walk Macrotia Absent speech Hydrocephalus Macrocephaly Short stature Conjugated hyperbilirubinemia Neurogenic bladder Spastic paraparesis Nephrocalcinosis Paraparesis High forehead Posteriorly rotated ears Broad neck Stomatocytosis Progressive muscle weakness Hyporeflexia Involuntary movements Dyskinesia Unsteady gait Limb muscle weakness Respiratory failure Babinski sign Areflexia Hemoglobinuria Recurrent infections Kyphosis Congestive heart failure Fatigue Motor delay Hypoglycorrhachia Zonular cataract Micronodular cirrhosis Hepatocellular necrosis Depressivity Fatal liver failure in infancy Microphthalmia Renal insufficiency Long philtrum Intellectual disability, severe Fever Visual impairment Low cholesterol esterification rates Corneal opacity Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Fetal ascites Rapid neurologic deterioration Micropenis Polymicrogyria Supranuclear ophthalmoplegia Spastic tetraparesis Intellectual disability, mild Diarrhea Cerebellar atrophy Congenital microcephaly Increased CSF protein Lissencephaly Microretrognathia Gliosis Opacification of the corneal stroma Decreased liver function Postnatal microcephaly Pachygyria Tetraparesis Status epilepticus Sloping forehead Bone-marrow foam cells Vertical supranuclear gaze palsy Abnormal conjugate eye movement Infantile spasms Paralysis Mental deterioration Reduced antithrombin III activity Type I transferrin isoform profile Skin dimples Hypoproteinemia Finger clinodactyly Bruising susceptibility Progressive microcephaly Exotropia Single transverse palmar crease Poor speech Clinodactyly of the 5th finger Clinodactyly Depletion of mitochondrial DNA in liver Retinal degeneration Sleep disturbance Visceromegaly Loss of speech Foam cells Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Supranuclear gaze palsy Head tremor Trismus Neurofibrillary tangles Chorea Athetosis Dysphonia Schizophrenia Clumsiness Psychosis Spastic tetraplegia Mitral valve prolapse Mild fetal ventriculomegaly


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