Hyperreflexia, and Ulcerative colitis

Diseases related with Hyperreflexia and Ulcerative colitis

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

Top matches:

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

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 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

Other less relevant matches:

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

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

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

X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

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

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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Ulcerative 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
Intellectual disability Common - Between 50% and 80% cases
Gait disturbance Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

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

Rare Symptoms - Less than 30% cases

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


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