Hyperreflexia, and Lymphadenopathy

Diseases related with Hyperreflexia and Lymphadenopathy

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


Top matches:

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

Low match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Low match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

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Other less relevant matches:

Low match NIEMANN-PICK DISEASE TYPE A


Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.

NIEMANN-PICK DISEASE TYPE A Is also known as sphingomyelinase deficiency|sphingomyelin lipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE A

Low match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

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

Low match GRISCELLI SYNDROME, TYPE 2; GS2


GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Low match CHOREOACANTHOCYTOSIS


Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Low match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Lymphadenopathy

Symptoms // Phenotype % cases
Splenomegaly Very Common - Between 80% and 100% cases
Hepatomegaly Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Fever Edema Global developmental delay Intellectual disability Microcytic anemia Rigidity Nausea and vomiting Malabsorption Muscle weakness Cranial nerve paralysis Increased antibody level in blood Recurrent respiratory infections Thrombocytopenia Arthralgia Dyspnea Failure to thrive Abdominal pain Gait disturbance Anemia Nystagmus Skeletal muscle atrophy Ascites Congestive heart failure Vomiting Arrhythmia Mental deterioration Hydrocephalus Tremor Leukopenia Neurodegeneration Hypertriglyceridemia Muscular hypotonia Areflexia Hyporeflexia Jaundice Elevated erythrocyte sedimentation rate Lipodystrophy Skin rash Hyperpigmentation of the skin Peripheral neuropathy Abnormal bleeding Cardiomegaly Sensory neuropathy Recurrent infections Abnormality of movement Intellectual disability, mild Generalized hypotonia Progressive neurologic deterioration Episcleritis Pancytopenia Erythema nodosum Epistaxis Diarrhea Arthritis Pain Developmental regression Fatigue Vasculitis Abnormal pyramidal sign

Rare Symptoms - Less than 30% cases


Panniculitis Abnormality of vision Petechiae Restrictive ventilatory defect Pericardial effusion Parkinsonism Elevated hepatic transaminase Abnormality of the eye Erythema Partial albinism Hemophagocytosis Sensorineural hearing impairment White hair Irritability Bone pain Osteolysis Delayed puberty Difficulty walking Proteinuria Aggressive behavior Cough Pallor Generalized tonic-clonic seizures Abnormality of eye movement Lymphopenia Hematuria Autoimmunity Retinopathy Scarring Joint stiffness Iris hypopigmentation Flexion contracture Atrial septal defect Ventriculomegaly Episodic fever Elbow flexion contracture Macrotia Renal insufficiency Hyperhidrosis Behavioral abnormality Lipoatrophy Abnormal eyebrow morphology Prominent nose Sleep disturbance Cataract Spasticity Neoplasm Stiff skin Macroglossia Thick lower lip vermilion Albinism Immunodeficiency Osteopenia Peripheral demyelination Hypopigmentation of the skin Neutropenia Myalgia Photophobia Abnormality of the foot Clubbing of fingers Reduced tendon reflexes Reduced visual acuity Conjunctivitis Recurrent bacterial infections Lymphoma Weight loss Alopecia Paresthesia Abnormal heart valve morphology Osteoporosis Glomerulopathy Immunologic hypersensitivity Meningitis Abnormal myocardium morphology Myositis Subcutaneous nodule Strabismus Pulmonary infiltrates Uveitis Aseptic necrosis Hemoptysis Dysphagia Memory impairment Gastrointestinal hemorrhage Growth delay Dementia Depressivity Pleural effusion Delayed skeletal maturation Dystonia Foot dorsiflexor weakness Nephritis Urticaria Adipose tissue loss Cerebral palsy Joint dislocation Cerebellar atrophy Visual impairment Emphysema Leukemia Spastic paraplegia Paraplegia Pruritus Abnormal leukocyte morphology Sensory axonal neuropathy Peripheral axonal neuropathy Hemiplegia/hemiparesis Irregular hyperpigmentation Finger swelling Flexion contracture of toe Encephalocele Hepatitis Immune dysregulation Decreased antibody level in blood Sepsis Abnormal cerebellum morphology Generalized lipodystrophy Hypochromic anemia Recurrent cutaneous abscess formation Lethargy Hypopigmentation of hair Small vessel vasculitis Obstructive lung disease Complement deficiency Angioedema Inflammatory abnormality of the eye Abnormality of the Leydig cells Right bundle branch block Clubbing of toes Protuberant abdomen Recurrent systemic pyogenic infections Sea-blue histiocytosis Bone-marrow foam cells Cutaneous photosensitivity Cerebral hemorrhage Cherry red spot of the macula Xanthomatosis Amblyopia Diffuse reticular or finely nodular infiltrations Melanocytic nevus Prolonged neonatal jaundice Athetosis Decreased nerve conduction velocity Respiratory tract infection Feeding difficulties in infancy Skin ulcer Abnormality of extrapyramidal motor function Foam cells with lamellar inclusion bodies Cervical lymphadenopathy Hyperlipidemia Constipation Hyperostosis Abnormality of the face Giant melanosomes in melanocytes Falls Bruising susceptibility Brain atrophy Arachnodactyly Seborrheic keratosis Arthrogryposis multiplex congenita Bilateral camptodactyly Upper eyelid edema Abnormality of multiple cell lineages in the bone marrow Retroperitoneal fibrosis Bradykinesia Respiratory insufficiency Bone marrow hypocellularity Premature graying of hair Hypopigmented skin patches Protruding tongue Generalized hypopigmentation Orofacial dyskinesia Square-wave jerks Tics Fair hair Acanthocytosis Acute hepatic failure Self-mutilation Abnormality of the thyroid gland Dysgraphia Generalized amyotrophy Personality changes Self-injurious behavior Periodontitis Gingivitis Drooling EMG abnormality Involuntary movements Disinhibition Spinocerebellar tract degeneration Neuronal loss in central nervous system Caudate atrophy Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Progressive distal muscular atrophy Abnormality of urine homeostasis Phonic tics Hypersplenism Progressive choreoathetosis Hypofibrinogenemia Muscle fiber atrophy Progressive peripheral neuropathy Distal upper limb muscle weakness Abnormal erythrocyte morphology Difficulty in tongue movements Subcortical dementia Abetalipoproteinemia Mood changes Abnormal urinary color Psychosis Chorea Pyloric stenosis Glucose intolerance Reduced delayed hypersensitivity Abnormality of neutrophils Babinski sign Abnormality of the liver Camptodactyly of finger Generalized edema Inability to walk Growth abnormality Edema of the lower limbs Silver-gray hair Abnormal eyelash morphology Abnormality of lipid metabolism Long fingers Hair-pulling Hypermelanotic macule Basal ganglia calcification Rimmed vacuoles Abnormally large globe Cutaneous anergy Melanin pigment aggregation in hair shafts Resting tremor Abnormality of the nervous system Gliosis Self-mutilation of tongue and lips due to involuntary movements Generalized muscle weakness Dyskinesia Limb muscle weakness Neurological speech impairment Attention deficit hyperactivity disorder Hypertrophic cardiomyopathy Anxiety Accumulation of melanosomes in melanocytes Gingival bleeding Cerebral cortical atrophy Pes cavus Elevated serum creatine phosphokinase Cerebral atrophy Myopathy Dysarthria Feeding difficulties Cognitive impairment Generalized hyperpigmentation Wide intermamillary distance Snoring Ophthalmoplegia Decreased body weight Intention tremor Pulmonary arterial hypertension Cyanosis Syncope Progressive cerebellar ataxia Generalized myoclonic seizures Abdominal distention Cirrhosis Corneal opacity Increased bone mineral density Myoclonus Encephalopathy Kyphosis Hypertonia Myopia Scoliosis Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Hydrops fetalis Oculomotor apraxia Superficial thrombophlebitis Abnormality of the sternum Abnormality of the spleen Multiple myeloma Supranuclear gaze palsy Hypercoagulability Vertebral compression fractures Slow saccadic eye movements Thoracic kyphosis Hepatocellular carcinoma Exertional dyspnea Bulbar palsy Lower limb hyperreflexia Increased susceptibility to fractures Abnormal retinal morphology Interstitial pulmonary abnormality Opisthotonus Pulmonary fibrosis Menorrhagia Clubbing Abnormality of the thorax Portal hypertension Cholelithiasis Hypoalbuminemia Panuveitis Orchitis Restrictive deficit on pulmonary function testing Abnormal blistering of the skin Rheumatoid arthritis Encephalitis Increased intracranial pressure Venous thrombosis Aortic regurgitation Pancreatitis Anorexia Mitral regurgitation Hemiparesis Myocardial infarction Migraine Inflammation of the large intestine Chest pain Vertigo Confusion Papule Stroke Glaucoma Visual loss Dilatation Headache Blindness Acne Epiphora Retrobulbar optic neuritis Endocarditis Iritis Increased inflammatory response Iridocyclitis Posterior uveitis Anterior uveitis Optic neuritis Chorioretinitis Thrombophlebitis Pleuritis Oral ulcer Alopecia areata Blurred vision Stomatitis Recurrent aphthous stomatitis Arterial thrombosis Cerebral ischemia Raynaud phenomenon Gangrene Pustule Pulmonary embolism Pericarditis Keratoconjunctivitis sicca Avascular necrosis of the capital femoral epiphysis Protein-losing enteropathy Facial telangiectasia Telangiectasia Psoriasiform dermatitis Sleep apnea Azoospermia Plagiocephaly Type I diabetes mellitus Hypergonadotropic hypogonadism Aspiration Gynecomastia Gingival overgrowth Bronchiectasis Hyperglycemia Primary amenorrhea Hypertrichosis Blue sclerae Epidermal acanthosis Bilateral sensorineural hearing impairment Mitral valve prolapse Overgrowth Amenorrhea Decreased testicular size Growth hormone deficiency Stridor Leukocytosis Recurrent fractures Skin nodule Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Nasal obstruction Hallux valgus Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Polycythemia Scleroderma Full cheeks Polyneuropathy Astrocytosis Cardiac valve calcification Frontal bossing Wide nasal bridge Brachydactyly Epicanthus Ptosis Hypertelorism Hearing impairment Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Horizontal supranuclear gaze palsy Anteverted nares Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Mitral valve calcification Abnormal saccadic eye movements Aortic valve calcification Spontaneous hematomas Abnormal thrombosis Generalized osteosclerosis Ventricular septal defect Hernia Flat face Pes planus Cleft upper lip Ichthyosis Hypotrichosis Pectus carinatum Abnormal cardiac septum morphology Apnea Abnormality of the kidney Camptodactyly Low-set, posteriorly rotated ears Conductive hearing impairment Hypothyroidism Clinodactyly Proptosis Micropenis Hyperkeratosis Diabetes mellitus Hypogonadism Posteriorly rotated ears Severe short stature Pneumonia Abnormal heart morphology Patent ductus arteriosus Generalized hypopigmentation of hair



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