Hyperreflexia, and Meningitis

Diseases related with Hyperreflexia and Meningitis

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


Top matches:

Medium match HYPEREKPLEXIA 2; HKPX2


Related symptoms:

  • Seizures
  • Spasticity
  • Motor delay
  • Hyperreflexia
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 2; HKPX2

Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

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 UROCANIC ACIDURIA


Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.

UROCANIC ACIDURIA Is also known as encephalopathy due to urocanase deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about UROCANIC ACIDURIA

Low match LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM


Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

Low match HARTNUP DISEASE


Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Low match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Low match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Low match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

Low match HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS


Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

Top 5 symptoms//phenotypes associated to Hyperreflexia and Meningitis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Spasticity Common - Between 50% and 80% cases
Encephalitis Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Global developmental delay Short neck Weight loss Dysarthria Nystagmus Short stature Generalized hypotonia Developmental regression Muscular hypotonia Diarrhea Gastroesophageal reflux Vomiting Tremor Cognitive impairment Optic atrophy Depressivity Muscle weakness Dementia Hypertonia Abdominal pain Hyperlordosis Cough Muscle stiffness Arthralgia Splenomegaly Blindness Fever Nausea and vomiting Constipation Frontal bossing Emotional lability Growth delay Scoliosis Hypertelorism Ptosis Abnormal facial shape Pain Macrocephaly Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Renal insufficiency Migraine Vertigo Lymphadenopathy Confusion Coarse facial features Malabsorption Sensorineural hearing impairment EEG abnormality Kyphosis Abnormal pyramidal sign Headache Autoimmunity Joint stiffness Skin rash Abnormal blistering of the skin Diplopia Arthritis Myalgia Photophobia Irregular hyperpigmentation High palate Dyspnea Memory impairment Pleural effusion Hemiparesis Aciduria Unsteady gait Abnormality of the cerebral white matter Amenorrhea Peripheral demyelination Hepatomegaly Leukodystrophy Leukoencephalopathy Progressive spasticity Delusions Mood changes Macroglossia Gait ataxia Vasculitis Strabismus Cerebral cortical atrophy Intellectual disability, severe Hydrocephalus Immunologic hypersensitivity Uveitis Hemoptysis Glomerulopathy Gliosis Abnormal heart valve morphology Cranial nerve paralysis Intellectual disability, progressive Peripheral neuropathy Anxiety Pneumonia Motor delay Abdominal distention Recurrent respiratory infections Respiratory failure Oral-pharyngeal dysphagia Cleft palate Micrognathia Failure to thrive Microcephaly Hyperactivity Glabellar reflex Drooling Mandibular prognathia Macrotia Severe short stature Delayed speech and language development Talipes equinovarus Short nose Joint dislocation Abnormality of the skeletal system Brachydactyly Cryptorchidism Skeletal dysplasia Malar flattening Recurrent infections Feeding difficulties Midface retrusion Exaggerated startle response Hypospadias Low-set ears Wide nasal bridge Tibial bowing Epicanthus Hearing impairment Diffuse demyelination of the cerebral white matter Anteverted nares Hypogonadism Obesity Wide mouth Thick eyebrow Paraplegia Genu valgum Abnormality of the foot Nail dystrophy Spastic paraplegia Dolichocephaly Microtia Abnormality of the kidney Clinodactyly Telecanthus Thin upper lip vermilion Pes planus Myoclonus Kyphoscoliosis Micropenis Upslanted palpebral fissure Posteriorly rotated ears Delayed skeletal maturation Microcoria Hypersomnia Hyperpigmented nevi Osteopenia Chorea Sudden cardiac death Tetraplegia Sleep disturbance Dysmetria Abnormality of eye movement Neurological speech impairment Facial palsy Hypothyroidism Cerebral calcification Diabetes mellitus Hyperhidrosis Agenesis of corpus callosum Hyporeflexia Astigmatism Respiratory insufficiency Dysphagia Hypertension Esotropia Hypotension Clonus Recurrent singultus Poor coordination Progressive macrocephaly Pseudobulbar signs Large face Tapered finger Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Increased CSF protein Abnormal autonomic nervous system physiology Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Bowel incontinence Dysphasia Self-injurious behavior Precocious puberty Dysphonia Sleep apnea Thick vermilion border Narrow forehead Hernia Dysostosis multiplex Angiokeratoma corporis diffusum Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Psychomotor deterioration Abnormal diaphysis morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the retinal vasculature Beaking of vertebral bodies Thickened ribs Generalized dystonia Bundle branch block Abnormality of the urinary system Generalized hirsutism Gingival overgrowth Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Hypertrichosis Depressed nasal ridge Abnormality of the scrotum Cerebral degeneration Abnormality of the skin Urticaria Obstructive lung disease Episcleritis Complement deficiency Angioedema Inflammatory abnormality of the eye Pericardial effusion Restrictive ventilatory defect Emphysema Hemiplegia/hemiparesis Nephritis Reduced tendon reflexes Decreased beta-galactosidase activity Cerebral palsy Conjunctivitis Recurrent bacterial infections Lymphoma Ascites Sensory neuropathy Hematuria Pruritus Proteinuria Abnormality of ganglioside metabolism Cardiomegaly Broad nasal tip Vesicoureteral reflux Scrotal hypoplasia Facial hypotonia Protruding tongue Abnormality of blood and blood-forming tissues Slender finger External genital hypoplasia Mild short stature Bilateral cryptorchidism Radial deviation of finger Tented upper lip vermilion Infantile muscular hypotonia Lower limb hypertonia Widely spaced teeth Increased body weight Narrow face Exotropia Abnormality of the genital system Open mouth Thick lower lip vermilion Renal hypoplasia Grasp reflex Decreased testicular size Asplenia Short upper lip Neurodegeneration Cardiomyopathy Abnormality of movement Dilated cardiomyopathy Corneal opacity Camptodactyly of finger Hypertrophic cardiomyopathy Hepatosplenomegaly Inguinal hernia Long philtrum Dystonia Congestive heart failure Skeletal muscle atrophy U-Shaped upper lip vermilion Myopia Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Equinovarus deformity Widely-spaced maxillary central incisors Talipes calcaneovalgus Bilateral renal hypoplasia Neutral hyperaminoaciduria Chronic diarrhea Hyperphenylalaninemia Premature birth Subcutaneous nodule Mitral regurgitation Nausea Myocardial infarction Inability to walk Gastrointestinal hemorrhage Generalized myoclonic seizures Chest pain Short metacarpal Talipes Otitis media Paresthesia Limb undergrowth Lumbar hyperlordosis Papule Encephalocele Stroke Recurrent urinary tract infections Anorexia Pancreatitis Retinopathy Autistic behavior Gangrene Pulmonary infiltrates Pustule Aseptic necrosis Pulmonary embolism Respiratory tract infection Pericarditis Keratoconjunctivitis sicca Blurred vision Aortic regurgitation Epiphora Inflammation of the large intestine Acne Rheumatoid arthritis Generalized tonic-clonic seizures Narrow chest Increased intracranial pressure Venous thrombosis Poor speech Rhizomelia Scarring Myositis Coronal cleft vertebrae Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Intestinal pseudo-obstruction Lethal skeletal dysplasia Distal tapering femur Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Loss of speech Short humerus Atonic seizures Multinucleated giant chondrocytes in epiphyseal cartilage Flat occiput Sinusitis Alopecia Erythema Irritability Aspiration Recurrent pneumonia Absence seizures Abnormality of the outer ear Reduced visual acuity Glaucoma Visual loss Neoplasm Dilatation Disproportionate short-limb short stature Hyperkinesis Short metatarsal Behavioral abnormality Elbow dislocation Fatigue Clubbing Cataract Raynaud phenomenon Cerebral ischemia Neural tube defect Personality changes Diffuse leukoencephalopathy Primary gonadal insufficiency Cerebral hypomyelination CNS demyelination Hyperventilation Progressive encephalopathy Secondary amenorrhea Axonal degeneration Premature ovarian insufficiency Spastic hemiparesis CNS hypomyelination Flexion contracture Spastic paraparesis Paraparesis Spastic gait Progressive neurologic deterioration Primary amenorrhea Progressive cerebellar ataxia Rapid neurologic deterioration Cessation of head growth Respiratory distress Abnormality of vision Glossitis Abnormal urinary color Methylmalonic aciduria Episodic ataxia Bruxism Gingivitis Hiatus hernia Insomnia Hypopigmented skin patches Decreased circulating progesterone Aminoaciduria Hallucinations Spondyloepiphyseal dysplasia Inflammatory abnormality of the skin Cutaneous photosensitivity Psychosis Hepatic steatosis Cirrhosis Abnormality of the eye Coma Lethargy Abnormal myocardium morphology Chorioretinitis Orchitis Retrobulbar optic neuritis Iritis Increased inflammatory response Iridocyclitis Posterior uveitis Anterior uveitis Optic neuritis Deeply set eye Panuveitis Erythema nodosum Thrombophlebitis Pleuritis Oral ulcer Endocarditis Alopecia areata Stomatitis Recurrent aphthous stomatitis Arterial thrombosis Superficial thrombophlebitis Genital ulcers Distal muscle weakness Blue irides Mental deterioration Encephalopathy Cerebral atrophy Urocanic aciduria Abnormality of histidine metabolism Gaze-evoked horizontal nystagmus Action tremor Fair hair Hyperactive deep tendon reflexes Epididymitis Truncal ataxia Broad-based gait Brachycephaly Aggressive behavior Autism Proptosis Polyhydramnios Hypopyon Decreased level of D-mannose in urine Small vessel vasculitis



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