Hyperreflexia, and Cyanosis

Diseases related with Hyperreflexia and Cyanosis

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


Top matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Spasticity
  • Hyperreflexia
  • Encephalopathy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12

Medium match MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY


Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Is also known as mmpei|malignant migrating partial epilepsy of infancy|mmpsi|migrating partial epilepsy of infancy|mpsi|mpei|migrating partial seizures of infancy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY

Medium match ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY


Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.

ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY Is also known as glut1-ds|glucose transport defect, blood-brain barrier|glut-1 deficiency syndrome|de vivo disease|glucose transporter type 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY

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Other less relevant matches:

Medium match EPISODIC ATAXIA, TYPE 1; EA1


Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). Genetic Heterogeneity of Episodic AtaxiaEpisodic ataxia is a genetically heterogeneous disorder. See also EA2 (OMIM ), caused by mutation in the CACNA1A gene (OMIM ) on chromosome 19p13; EA3 (OMIM ), which maps to chromosome 1q42; EA4 (OMIM ); EA5, caused by mutation in the CACNB4 gene (OMIM ) on chromosome 2q22-q23; EA6 (OMIM ), caused by mutation in the SLC1A3 gene (OMIM ) on chromosome 5p13; EA7 (OMIM ), which maps to chromosome 19q13; and EA8 (OMIM ), which maps to chromosome 1p36-p34.Isolated myokymia-2 (see {121200}) is associated with mutation in the KCNQ2 gene (OMIM ).

EPISODIC ATAXIA, TYPE 1; EA1 Is also known as ataxia, episodic, with myokymia|paroxysmal ataxia with neuromyotonia, hereditary|eam|episodic ataxia with myokymia|aemk|aem|myokymia with periodic ataxia

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 1; EA1

Medium match ETHYLMALONIC ENCEPHALOPATHY


Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ETHYLMALONIC ENCEPHALOPATHY

Medium match AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY


Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as ddc deficiency|aadc deficiency|dopa decarboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pain
  • Ptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Medium match 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D


3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Medium match FUCOSIDOSIS


Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about FUCOSIDOSIS

Medium match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Cyanosis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia of the trunk Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Encephalopathy

Uncommon Symptoms - Between 30% and 50% cases


Hypertonia Myoclonus Feeding difficulties Babinski sign Spasticity Dystonia Fatigue Lethargy Ataxia Muscular hypotonia Apnea Failure to thrive Hypoplasia of the corpus callosum Microcephaly Developmental regression Clonus Hypoglycemia Focal-onset seizure Cerebral atrophy Epileptic encephalopathy Delayed speech and language development Cerebellar atrophy Incoordination Muscle weakness Choreoathetosis Hyperkinesis Acidosis Skeletal muscle atrophy Macrocephaly Muscle stiffness Generalized myoclonic seizures

Rare Symptoms - Less than 30% cases


Ptosis Spastic gait Episodic ataxia Hyperhidrosis Progressive cerebellar ataxia Flexion contracture Rigidity Lactic acidosis Tremor Diarrhea Acrocyanosis Neurodevelopmental delay Increased serum lactate Feeding difficulties in infancy Brachycephaly Irritability Congestive heart failure Hepatomegaly Abnormal facial shape Growth delay Hearing impairment Kyphoscoliosis Necrotizing encephalopathy Abnormal pyramidal sign Cardiomegaly Coma Metabolic acidosis Hepatic steatosis Vomiting Abnormality of eye movement Myopathy Oral-pharyngeal dysphagia Horizontal nystagmus Abnormal cerebellum morphology Dysmetria Pallor Visual impairment Nystagmus Agitation Cardiac arrest Leukodystrophy Pain Hernia Dyskinesia Focal impaired awareness seizure Absent speech Mental deterioration Abnormality of movement Poor eye contact Muscle fibrillation Gliosis Strabismus Headache Epileptic spasms Pneumonia Slurred speech Drooling Chorea Sleep disturbance Progressive microcephaly Intellectual disability, severe Dysarthria Hypsarrhythmia Status epilepticus Involuntary movements Abnormality of the eye Hypoplasia of the odontoid process Dysostosis multiplex Visceromegaly Lipoatrophy Axial dystonia Abnormal cornea morphology Vacuolated lymphocytes Mucopolysacchariduria Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Abnormality of the abdominal wall Cerebral hypomyelination Vascular skin abnormality Generalized hyperkeratosis Broad long bones Angiokeratoma Cerebral edema Progressive psychomotor deterioration Abnormality of the gallbladder Oligosacchariduria Angiokeratoma corporis diffusum Decreased muscle mass Ragged-red muscle fibers Anhidrosis Hyperkeratosis Corneal opacity Progressive macrocephaly Conductive hearing impairment Coarse facial features Skeletal dysplasia Hypothyroidism Congenital lactic acidosis Dry skin Osteoporosis Abnormal mitochondria in muscle tissue Prominent forehead Acute necrotizing encephalopathy Recurrent respiratory infections Delayed skeletal maturation Abnormality of the cerebral white matter Highly arched eyebrow Chronic otitis media Gingival overgrowth Abnormality of pelvic girdle bone morphology Coxa valga Abnormality of mucopolysaccharide metabolism Biventricular hypertrophy Infantile encephalopathy Abnormality of the nail Telangiectasia Macroglossia Decreased body weight Macrovesicular hepatic steatosis Cardiogenic shock Abnormal form of the vertebral bodies Spastic tetraplegia Abnormality of the cardiovascular system Abnormal globus pallidus morphology Elevated sweat chloride Abnormality of the acetabulum Stroke Stage 5 chronic kidney disease Progressive spasticity Talipes Weak cry Limb muscle weakness Severe global developmental delay Retinopathy Brain atrophy Abnormality of the liver Hypertrophic cardiomyopathy Myalgia Basal ganglia calcification Proximal muscle weakness Respiratory failure Hepatic failure Premature birth Renal tubular acidosis Ventricular hypertrophy Shock Pancreatitis Exercise intolerance Aspiration Wide anterior fontanel Left ventricular hypertrophy Coarctation of aorta Migraine Congenital diaphragmatic hernia Optic disc pallor Adrenal insufficiency Global brain atrophy Pigmentary retinopathy Pericardial effusion Febrile seizures Recurrent infections Optic neuropathy Increased hepatic glycogen content Micrognathia Wolff-Parkinson-White syndrome Corpus callosum atrophy Peripheral neuropathy Anemia Sensorineural hearing impairment Severe lactic acidosis Anterior beaking of thoracic vertebrae Nemaline bodies Glycopeptiduria Tortuosity of conjunctival vessels Leukoencephalopathy Abnormality of central motor function Eye of the tiger anomaly of globus pallidus Anterior beaking of lumbar vertebrae Increased CSF lactate Intrauterine growth retardation Progressive encephalopathy Cardiorespiratory arrest Mitochondrial myopathy Hyporeflexia Areflexia Patent ductus arteriosus Renal insufficiency Blindness Atrial septal defect Optic atrophy Edema Cardiomyopathy Respiratory distress Respiratory insufficiency Talipes equinovarus Aspiration pneumonia Dysphagia Agenesis of corpus callosum Broad-based gait Kyphosis Esotropia Atypical absence seizures Abnormal erythrocyte morphology Extrapyramidal dyskinesia Generalized hyperreflexia Hypoglycorrhachia Paroxysmal involuntary eye movements Paroxysmal lethargy Elevated serum creatine phosphokinase Unsteady gait Vertigo Nausea Inability to walk Postural instability Muscle cramps Fasciculations Paroxysmal dyskinesia Cerebral palsy Abnormality of the hand Postural tremor Blurred vision Cerebellar vermis atrophy Hypomagnesemia Tetany Myokymia Facial myokymia Aciduria Abnormality of extrapyramidal motor function Chronic diarrhea Petechiae Arnold-Chiari type I malformation Paroxysmal dystonia Central apnea Ecchymosis Abnormality of metabolism/homeostasis Generalized-onset seizure Tetraparesis Spastic tetraparesis Eyelid fasciculation Cerebral cortical atrophy Tetraplegia Delayed myelination Neuronal loss in central nervous system Flushing Developmental stagnation Multifocal seizures Focal motor seizures Cognitive impairment Behavioral abnormality Difficulty walking Drowsiness Apraxia Atonic seizures Language impairment Sleep apnea Absence seizures Postnatal microcephaly Hemiparesis Specific learning disability EEG abnormality Falls Confusion Poor speech Generalized tonic-clonic seizures Paralysis Intellectual disability, moderate Abnormality of the retinal vasculature Tethered cord Splenomegaly Opisthotonus Optic nerve hypoplasia Ankle clonus Delayed ability to walk Broad face Titubation Truncal titubation Ventriculomegaly Dilatation Depressivity Alopecia Elevated hepatic transaminase Dehydration Progressive neurologic deterioration Hyperammonemia Hypoventilation Finger clinodactyly Propionyl-CoA carboxylase deficiency Abnormality of the dentition Gait disturbance Hypertelorism Scoliosis Short stature Acute hyperammonemia Encephalomalacia Ketoacidosis Neutrophilia Hyperglycinuria Decreased plasma carnitine Seborrheic dermatitis Organic aciduria Ketonuria Tented upper lip vermilion Flat face Cytochrome C oxidase-negative muscle fibers Insomnia Focal T2 hyperintense basal ganglia lesion Ethylmalonic aciduria Motor delay Constipation Gastroesophageal reflux Syncope Hypotension Abnormality of the face Abnormal autonomic nervous system physiology Emotional lability Athetosis Hypokinesia Orthostatic hypotension Limb dystonia Limb hypertonia Thin vermilion border Epicanthus Gait ataxia Cerebellar hypoplasia Clinodactyly of the 5th finger Clinodactyly Long philtrum Fever High palate Hypothermia Intermittent hypothermia Vitreomacular adhesion Decreased CSF homovanillic acid Temperature instability Nasal obstruction Miosis Exercise-induced lactic acidemia



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