Hyperreflexia, and Systemic lupus erythematosus

Diseases related with Hyperreflexia and Systemic lupus erythematosus

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

Top matches:

Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993).For a general discussion of xeroderma pigmentosum, see XPA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC Is also known as xp, group c|xp3|xpcc|xeroderma pigmentosum iii

Related symptoms:

  • Neoplasm
  • Hyperactivity
  • Photophobia
  • Carcinoma
  • Abnormality of the nervous system


SOURCES: OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Other less relevant matches:

Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (OMIM ), in which only C8 beta (C8B ) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1 Is also known as c8ag deficiency|c8 deficiency, type i|c8 alpha-gamma deficiency

Related symptoms:

  • Meningitis
  • Systemic lupus erythematosus
  • C8 deficiency
  • Recurrent Neisserial infections


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY Is also known as mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|il12rb1 deficiency|msmd due to complete il12rb1 deficiency|msmd due to complete interleukin 12 receptor beta 1 deficiency

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Systemic lupus erythematosus
  • Recurrent mycobacterial infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY

Related symptoms:

  • Systemic lupus erythematosus
  • Angioedema


SOURCES: ORPHANET OMIM MENDELIAN

More info about C1 INHIBITOR DEFICIENCY

ACETYLATION, SLOW Is also known as inh inactivation, slow|isoniazid inactivation, slow|slow acetylator phenotype

Related symptoms:

  • Neoplasm
  • Peripheral neuropathy
  • Abnormality of metabolism/homeostasis
  • Systemic lupus erythematosus
  • Bladder neoplasm


SOURCES: OMIM MENDELIAN

More info about ACETYLATION, SLOW

Top 5 symptoms//phenotypes associated to Hyperreflexia and Systemic lupus erythematosus

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Brain atrophy Rare - less than 30% cases

Other less frequent symptoms

Patients with Hyperreflexia and Systemic lupus erythematosus. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Visual impairment Hypertension Feeding difficulties Headache Paralysis Confusion Memory impairment Muscle stiffness Nystagmus Acrocyanosis Spasticity Constipation Thrombocytopenia Recurrent infections Splenomegaly Generalized hypotonia Tetraplegia Hepatomegaly Pain Diarrhea Sparse hair Pulmonary hemorrhage Protein avoidance Ornithinuria Argininuria Nausea and vomiting Asterixis Hearing impairment Malabsorption Depressivity Visual loss Jaundice Alveolar proteinosis Osteopenia Difficulty walking Scarring Acidosis Autoimmunity Osteoporosis Paresthesia Delayed skeletal maturation Renal insufficiency Vomiting Oroticaciduria Psychotic episodes Increased serum lactate Coma Aciduria Abnormal bleeding Fine hair Postural instability Aminoaciduria Recurrent fractures Pancreatitis Leukopenia Cutis laxa Hyperammonemia Hyperextensible skin Urinary incontinence Stage 5 chronic kidney disease Metabolic acidosis Abnormality of the coagulation cascade Malnutrition Truncal obesity Glomerulopathy Cirrhosis Increased serum ferritin Hemophagocytosis Micronodular cirrhosis Hyperlysinuria Nausea Glomerulonephritis Emotional lability Diplopia Second degree atrioventricular block Urinary retention Periodic paralysis Abnormality of muscle fibers Postprandial hyperglycemia Impaired myocardial contractility Shortened PR interval Increased intramyocellular lipid droplets Periodic hypokalemic paresis Exercise-induced muscle fatigue Late-onset proximal muscle weakness Respiratory paralysis Episodic flaccid weakness Thyrotoxicosis with diffuse goiter Graves disease Episodic hypokalemia Decreased urinary potassium Transient hypophosphatemia Thyrotoxicosis with toxic single thyroid nodule Thyrotoxicosis with toxic multinodular goitre Meningitis C8 deficiency Recurrent Neisserial infections Immunodeficiency Recurrent mycobacterial infections Angioedema Peripheral neuropathy Abnormality of metabolism/homeostasis Abnormality of peripheral nerve conduction Heat intolerance Hyperkinesis Muscle cramps Incoordination Respiratory insufficiency Brain neoplasm CNS demyelination Urinary hesitancy Obesity Hyporeflexia Hyperhidrosis Weight loss Proptosis Lower limb muscle weakness Tachycardia Palpitations Hypomagnesemia EMG abnormality Goiter Hypokalemia Ophthalmoparesis Myotonia Ventricular fibrillation Hyperkalemia Mildly elevated creatine phosphokinase Prolonged QT interval Hyperthyroidism Rhabdomyolysis Thyroiditis Hashimoto thyroiditis Intellectual disability, severe CSF lymphocytic pleiocytosis Skeletal muscle atrophy Visual field defect Nephropathy Chorea Migraine Myocardial infarction Hemiparesis Vasculitis Hemiplegia Intracranial hemorrhage Personality changes Heart murmur Cutis marmorata Aphasia Atrophic scars Stroke Thrombocytosis Transient ischemic attack Arteriovenous malformation Peripheral arterial stenosis Facial paralysis Cerebral ischemia Hemianopia Arterial stenosis Thromboembolic stroke Amaurosis fugax Vascular skin abnormality Antiphospholipid antibody positivity Vertigo Developmental regression Global developmental delay Squamous cell carcinoma Photophobia Carcinoma Abnormality of the nervous system Hypopigmentation of the skin Cutaneous photosensitivity Telangiectasia Conjunctivitis Neoplasm of the skin Melanoma Dermal atrophy Ectropion Keratitis Basal cell carcinoma Mental deterioration Freckling Poikiloderma Entropion Squamous cell carcinoma of the skin Cutaneous melanoma Defective DNA repair after ultraviolet radiation damage Motor delay Dysarthria Behavioral abnormality Dementia Myalgia Facial palsy Lupus anticoagulant Microcephaly Anemia Lymphocytosis Encephalitis Spastic diplegia Petechiae Congenital glaucoma Prolonged neonatal jaundice Basal ganglia calcification Atrophy/Degeneration affecting the brainstem Episodic fever Progressive encephalopathy Diffuse cerebral atrophy Morphological abnormality of the pyramidal tract Vegetative state CSF pleocytosis Cerebral palsy Autoamputation Multiple gastric polyps Hyperactivity Chilblains Chronic CSF lymphocytosis Deep white matter hypodensities Increased CSF interferon alpha Intellectual disability Short stature Failure to thrive Muscular hypotonia Cognitive impairment Poor head control Leukoencephalopathy Strabismus Elevated hepatic transaminase Fever Abnormality of the skeletal system Cerebellar atrophy Dystonia Cerebral atrophy Dilatation Encephalopathy Pneumonia Agenesis of corpus callosum Glaucoma Cerebral cortical atrophy Hepatosplenomegaly Muscular hypotonia of the trunk Leukodystrophy Feeding difficulties in infancy Irritability Skin rash Severe global developmental delay Abnormality of the cerebral white matter Peripheral demyelination Cerebral calcification Hepatitis Abnormality of extrapyramidal motor function Spastic tetraplegia Intellectual disability, profound Postnatal microcephaly Progressive microcephaly Bladder neoplasm


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