Hyperreflexia, and Colitis

Diseases related with Hyperreflexia and Colitis

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


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Medium match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY


Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

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Other less relevant matches:

Low match HEREDITARY HYPEREKPLEXIA


Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Low match LIGNEOUS CONJUNCTIVITIS


Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia (see this term).

LIGNEOUS CONJUNCTIVITIS Is also known as conjunctivitis lignosa

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Macrocephaly
  • Hydrocephalus
  • Blindness


SOURCES: ORPHANET MENDELIAN

More info about LIGNEOUS CONJUNCTIVITIS

Low match HYPOPLASMINOGENEMIA


Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.

HYPOPLASMINOGENEMIA Is also known as plasminogen deficiency type 1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hyperreflexia
  • Macrocephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOPLASMINOGENEMIA

Low match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Low match GALLOWAY-MOWAT SYNDROME


Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29


Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29 Is also known as spg29

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29

Top 5 symptoms//phenotypes associated to Hyperreflexia and Colitis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Vomiting Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar hypoplasia Hypertonia Intellectual disability Gait disturbance Blindness Pancreatitis Clonus Abnormal facial shape Cataract Hypoplasia of the corpus callosum Fever Hearing impairment Myoclonus Fatigue Feeding difficulties Papule Hypothyroidism Memory impairment Gait ataxia Nausea and vomiting Generalized hypotonia Type I diabetes mellitus Gastrointestinal inflammation Myalgia Dyspnea Weight loss Visual loss Headache Renal insufficiency Diarrhea Pain Dandy-Walker malformation Gingival overgrowth Anorexia Epiphora Hiatus hernia Hydrocephalus Gastroesophageal reflux Encephalopathy Hernia Stomatitis Apnea Cognitive impairment Acidosis Respiratory distress Respiratory insufficiency Ventriculomegaly Anemia Microcephaly Nystagmus Muscular hypotonia Macrocephaly Cerebellar atrophy Dysphagia Tremor Dysarthria

Rare Symptoms - Less than 30% cases


Conjunctivitis Recurrent upper respiratory tract infections Abnormality of the eye Abnormality of vision Failure to thrive Muscle weakness Recurrent pneumonia Strabismus Nephritis Nephrolithiasis Recurrent otitis media Pneumonia Premature loss of teeth Recurrent bronchitis Duodenal ulcer Esophagitis Abnormality of the larynx Recurrent pharyngitis Poor wound healing Keratoconjunctivitis Periodontitis Gingivitis Vaginitis Sleep disturbance Abnormality of the gallbladder Abnormality of the mediastinum Abnormality of fontanelles Chronic irritative conjunctivitis Cervicitis Anxiety Aspiration Lethargy Motor delay Cerebral atrophy Drowsiness Cardiorespiratory arrest Proximal tubulopathy Episodic vomiting Abnormality of the renal tubule Short stature Hypertelorism Ptosis Visual impairment Optic atrophy Abnormality of the dentition Dystonia Pes cavus Hemiplegia Cerebral cortical atrophy EEG abnormality Proteinuria Nephropathy Nephrotic syndrome Hyperkinesis Chronic kidney disease Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Abnormality of neuronal migration Abnormality of immune system physiology Sensorineural hearing impairment Rhabdomyolysis Mutism Hepatomegaly Dilated cardiomyopathy Cardiomyopathy Edema Myopathy Congestive heart failure Depressivity Arrhythmia Areflexia Elevated serum creatine phosphokinase Jaundice Hypertrophic cardiomyopathy Abnormality of the pinna Abnormality of the liver Pulmonary embolism Ragged-red muscle fibers Congenital cataract Nausea Lactic acidosis Coma Muscle cramps Tetraplegia Gliosis Increased serum lactate Pachygyria Heterotopia Left ventricular hypertrophy Cardiac arrest Exercise intolerance Cerebral ischemia Easy fatigability Photophobia Migraine Impaired proprioception Ophthalmoplegia Metabolic acidosis Speech apraxia Poor speech Iridocyclitis Arthralgia Venous thrombosis Behavioral abnormality Dilatation Postural instability Hemiparesis Generalized tonic-clonic seizures Vertigo Brain atrophy Confusion Paresthesia Malabsorption Abdominal pain Arachnodactyly Stroke Peripheral axonal neuropathy Retinopathy Scarring Joint stiffness Erythema Irritability Developmental regression Neurological speech impairment Type II diabetes mellitus Hypogonadism Glaucoma External ophthalmoplegia Babinski sign Alopecia Uveitis Diabetes mellitus Peripheral neuropathy Glomerulopathy Difficulty walking Postnatal microcephaly Truncal ataxia Rigidity Adducted thumb Bilateral sensorineural hearing impairment Status epilepticus Dementia Pulmonary arterial hypertension Rod-cone dystrophy Osteoporosis Specific learning disability Psychosis Ventricular hypertrophy Atrial fibrillation Constipation Hypertrichosis Involuntary movements Decreased body weight Abnormality of retinal pigmentation Hallucinations Delayed skeletal maturation Autism Attention deficit hyperactivity disorder Mental deterioration Ichthyosis Amenorrhea Cerebral calcification Sensory impairment Sudden cardiac death Generalized myoclonic seizures Pigmentary retinopathy Abnormal cerebellum morphology Polyneuropathy Hirsutism Polymicrogyria Abnormality of the cardiovascular system Feeding difficulties in infancy Dysmetria Generalized-onset seizure Anal atresia Delayed puberty Carious teeth Arthrogryposis multiplex congenita Pruritus Hip dysplasia Nyctalopia Protruding ear Keratoconjunctivitis sicca Skeletal muscle atrophy Hyporeflexia Progressive microcephaly Slender finger Abdominal distention Flat occiput Hypoplasia of the brainstem Glomerulosclerosis Hypoalbuminemia Muscle fibrillation Lissencephaly Severe muscular hypotonia Opacification of the corneal stroma Joint contracture of the hand Small nail Proportionate short stature Hypsarrhythmia Spastic tetraplegia Enterocolitis Hypotelorism Oligohydramnios Narrow forehead Sloping forehead Prominent nose Premature birth Delayed myelination Limitation of joint mobility Congenital hypothyroidism Hypoplasia of the iris Kyphosis Abnormality of the intervertebral disk Short neck EMG abnormality Hypertension Growth delay Projectile vomiting Thyroid dysgenesis Laryngospasm Hypoplasia of the ear cartilage Encephalomalacia Albuminuria Congenital nephrotic syndrome Axial dystonia Adrenal hypoplasia Diffuse mesangial sclerosis Diaphragmatic eventration Narrow nasal ridge Hand clenching Periorbital edema Abnormal renal physiology Spastic ataxia Aqueductal stenosis Diffuse cerebral atrophy Tubular atrophy Mild microcephaly Aspiration pneumonia Cerebral visual impairment Cachexia Generalized hirsutism Spontaneous hematomas Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Leber optic atrophy Abnormal mitochondrial morphology Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Hemianopia Ileus Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Left ventricular failure Seborrheic dermatitis Stroke-like episode Paronychia Edema of the dorsum of hands Gait imbalance Paraplegia Abnormality of the rectum Urinary hesitancy Kernicterus Nocturia Hyperreflexia in upper limbs Neonatal hyperbilirubinemia Upper limb spasticity Lower limb hyperreflexia Urinary urgency Impaired vibratory sensation Hyperbilirubinemia Urinary incontinence Spastic paraplegia Cochlear malformation Hyperactivity Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Anterior hypopituitarism Reduced consciousness/confusion Hypogonadotrophic hypogonadism Abnormality of mitochondrial metabolism Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Aortic aneurysm Hyperkalemia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Ascites Atrioventricular block Growth abnormality Goiter Schizophrenia Hypopigmented skin patches Ischemic stroke Reduced tendon reflexes Macular degeneration Purpura Dysphasia Visual field defect Wolff-Parkinson-White syndrome Heart block Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Xerostomia Prolonged QT interval Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Primary adrenal insufficiency Thyroiditis Hyperthyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Chorea Midface retrusion Hypopigmentation of the skin Arthritis Abnormality of the ovary Abnormality of the respiratory system Abnormality of the ear Chronic otitis media Hoarse voice Sinusitis Abnormality of the skin Otitis media Asthma Reduced visual acuity Abnormality of metabolism/homeostasis Autoimmunity Abnormality of the fallopian tube Abnormal pyramidal sign Cough Hypercoagulability Lymphadenopathy Chest pain Gastrointestinal hemorrhage Abnormal blistering of the skin Myocardial infarction Mitral regurgitation Subcutaneous nodule Meningitis Vasculitis Abnormality of the middle ear Reduced factor XII activity Exaggerated startle response Respiratory failure Progeroid facial appearance Respiratory tract infection Hypoplasia of the pons Hyperlordosis Head tremor Telecanthus Proximal muscle weakness Elevated hepatic transaminase Hypoglycemia Corpus callosum atrophy High forehead Ulcerative colitis Geographic tongue Saccadic smooth pursuit Delayed menarche Abnormal involuntary eye movements Old-aged sensorineural hearing impairment Parietal cortical atrophy Abnormality of the sella turcica Depressed nasal bridge Abnormal motor evoked potentials Neoplasm Splenomegaly Pneumomediastinum Decreased level of plasminogen Nocturnal seizures Myokymia Hand tremor Endocarditis Iritis Increased inflammatory response Posterior uveitis Anterior uveitis Optic neuritis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Pleuritis Oral ulcer Alopecia areata Orchitis Inflammation of the large intestine Recurrent aphthous stomatitis Arterial thrombosis Abnormal myocardium morphology Blurred vision Myositis Raynaud phenomenon Gangrene Pulmonary infiltrates Pustule Aseptic necrosis Hemoptysis Retrobulbar optic neuritis Superficial thrombophlebitis Aortic regurgitation Increased intracranial pressure Cranial nerve paralysis Atonic seizures Hypokinesia Loss of consciousness Myotonia Joint dislocation Congenital hip dislocation Muscle stiffness Fasciculations Frequent falls Epileptic encephalopathy Falls Panuveitis Abnormality of movement Hip dislocation Encephalitis Umbilical hernia Pleural effusion Inguinal hernia Rheumatoid arthritis Acne Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Oligomenorrhea Abnormality of the cerebral white matter Fetal distress Increased muscle lipid content Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Glutaric acidemia Abnormality of blood glucose concentration Arthralgia of the hip Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Electron transfer flavoprotein-ubiquinone oxidoreductase defect Infertility Respiratory arrest Camptodactyly Hematuria Inability to walk Talipes Abnormality of eye movement Abnormality of the foot Severe global developmental delay Small for gestational age Prominent nasal bridge Camptodactyly of finger Wide mouth Abnormality of the kidney Muscular hypotonia of the trunk Micrognathia Prenatal movement abnormality Macrotia Absent speech Pericarditis Microphthalmia Talipes equinovarus Intrauterine growth retardation Epicanthus Delayed speech and language development High palate Flexion contracture Low-set ears Generalized aminoaciduria Acute pancreatitis Retinal atrophy Waddling gait Spastic tetraparesis Scapular winging Horizontal nystagmus Leukodystrophy Decreased liver function Wide anterior fontanel Oculomotor apraxia Renal dysplasia Abnormality of the genital system Tetraparesis Cardiomegaly Aciduria Limb ataxia Postural tremor Sensory axonal neuropathy Generalized muscle weakness Gaze-evoked nystagmus Ankle clonus Renal cyst Hepatic steatosis Pulmonary hypoplasia Hyperactive deep tendon reflexes Joint hyperflexibility Limb muscle weakness Hyperammonemia Lower limb spasticity Loss of ability to walk Ketosis Abnormal corpus callosum morphology Unsteady gait Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Distal amyotrophy Progressive proximal muscle weakness Myoglobinuria Poor head control Sensory neuropathy Fatigable weakness Acute kidney injury Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Stridor Progressive cerebellar ataxia Back pain Polycystic kidney dysplasia Slurred speech Abnormality of the lower urinary tract



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Dandy-Walker malformation, related diseases and genetic alterations Hepatomegaly and Microcornea, related diseases and genetic alterations

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