Hyperreflexia, and Dehydration

Diseases related with Hyperreflexia and Dehydration

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

Top matches:

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Other less relevant matches:

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Is also known as cystinosis, intermediate

Related symptoms:

  • Short stature
  • Failure to thrive
  • Muscle weakness
  • Visual impairment
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

Low match COG7-CDG

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Dehydration

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Feeding difficulties Muscular hypotonia Global developmental delay Hypokalemia Hypercalciuria Short stature Scoliosis Sensorineural hearing impairment Protruding ear Proteinuria Micrognathia Hyporeflexia Gait disturbance Kyphosis Cryptorchidism Nephrocalcinosis Polyhydramnios Nephrolithiasis Hearing impairment Visual impairment Motor delay Respiratory insufficiency Behavioral abnormality Long philtrum Delayed puberty Full cheeks Delayed speech and language development Intellectual disability, mild Carious teeth Hypothyroidism Malabsorption Corneal opacity Depressivity Attention deficit hyperactivity disorder Irritability Fever Feeding difficulties in infancy Hyponatremia Growth delay Postural instability Fatigue Spasticity Congestive heart failure Dysarthria Adducted thumb Small for gestational age Myopathy Hyperaldosteronism Polyuria

Rare Symptoms - Less than 30% cases

Gastroesophageal reflux Umbilical hernia Anxiety Pes planus Hypophosphatemia Intellectual disability, moderate Low-set, posteriorly rotated ears Glaucoma Kyphoscoliosis Abnormal heart morphology Joint stiffness Malar flattening Short nose Mandibular prognathia Thrombocytopenia Recurrent respiratory infections Constipation Inguinal hernia Hypertrophic cardiomyopathy Areflexia Polydipsia Blepharophimosis Thick vermilion border Sudden cardiac death Abnormality of the dentition Portal hypertension Anemia Cataract Strabismus Recurrent urinary tract infections Hypertonia Depressed nasal bridge Respiratory distress Edema Metabolic alkalosis Alkalosis Renal salt wasting Stereotypy Premature birth Patellar dislocation Aminoaciduria Open mouth Abnormality of dental enamel Multiple renal cysts Abnormality of the voice Rickets Chronic otitis media Dysphasia Obsessive-compulsive behavior Decreased glomerular filtration rate Hypokalemic metabolic alkalosis Wide nasal bridge Fetal polyuria Open bite Genu valgum Joint hyperflexibility Hypokalemic hypochloremic metabolic alkalosis Flexion contracture Everted lower lip vermilion Hyperchloriduria Hypochloremia Hypernatriuria Pain Cleft palate Microcephaly Increased urinary potassium Lacrimation abnormality Renal tubular dysfunction Aciduria Amblyopia Stage 5 chronic kidney disease Abnormal pyramidal sign Dental malocclusion Myocardial infarction Fine hair Headache Abnormality of extrapyramidal motor function Involuntary movements Diabetes mellitus Ventriculomegaly Vomiting Micropenis High forehead Sparse scalp hair Babinski sign Opisthotonus Acidosis Clonus Triangular face Polyneuropathy Alopecia Camptodactyly Cerebral atrophy Macrocephaly Arthrogryposis multiplex congenita Elevated hepatic transaminase High palate Cyanosis Decreased plasma carnitine Ataxia Choreoathetosis Dystonia Metabolic acidosis Short neck Flat occiput Abnormality of metabolism/homeostasis Hypogonadotrophic hypogonadism Diarrhea Frontal bossing Subvalvular aortic stenosis Dyslexia Villous atrophy Periorbital fullness Enuresis Cerebral ischemia Abnormality of the cerebral vasculature Abnormality of the neck Abnormality of refraction Hypopnea Peripheral pulmonary artery stenosis Large earlobe Gait imbalance Elevated intracellular cystine Abnormal renal morphology Parathyroid hyperplasia Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Acute kidney injury Urethral stenosis Episodic fever Malignant hyperthermia Narrow nose Bladder diverticulum Trismus Phonophobia Abnormality of nervous system morphology Central apnea Dysgraphia Arterial stenosis Rectal prolapse Periorbital edema Large face Peptic ulcer Velopharyngeal insufficiency Temperature instability Cystic renal dysplasia Tubulointerstitial nephritis Soft skin Right ventricular hypertrophy Dysphonia Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Unilateral renal agenesis Nephritis Precocious puberty Radioulnar synostosis Failure to thrive in infancy Hypercalcemia Redundant skin Cholelithiasis Polycystic ovaries Loss of consciousness Incoordination Abnormality of pelvic girdle bone morphology Reduced bone mineral density Arnold-Chiari malformation Schizophrenia Infantile muscular hypotonia Ischemic stroke Sacral dimple Bicuspid aortic valve Widely spaced teeth Progressive hearing impairment Abnormal dermatoglyphics Glucose intolerance Hallux valgus Unexplained fevers Nevus flammeus Chronic constipation Bilateral camptodactyly Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Down-sloping shoulders Abnormality of the vasculature Pulmonary artery stenosis Poor coordination Abnormality of the ankles Hypernatremic dehydration Arnold-Chiari type I malformation Premature graying of hair Posterior embryotoxon Abnormality of lipid metabolism Smooth tongue Megalocornea Insomnia Restlessness Facial cleft Prematurely aged appearance High hypermetropia Facial tics Celiac disease Vertebral segmentation defect Vascular tortuosity Abnormality of the gastric mucosa Tubulointerstitial abnormality Congenital sensorineural hearing impairment Mild proteinuria Hypochloremic metabolic alkalosis Global glomerulosclerosis Mesangial hypercellularity Hypokalemic alkalosis Tubulointerstitial fibrosis Abnormally large globe Low-set ears Talipes equinovarus Anteverted nares Hypoplasia of the corpus callosum Intellectual disability, severe Reduced renal corticomedullary differentiation Clinodactyly Glomerulosclerosis Hydrops fetalis Hyperhidrosis Spina bifida occulta Prominent forehead Narrow mouth Dyspnea Retrognathia Facial palsy Apnea Abnormal glycosylation Areflexia of lower limbs Falls Jaundice Nephrogenic diabetes insipidus Corneal crystals Growth abnormality Cranial nerve paralysis Type I diabetes mellitus Pigmentary retinopathy Nephropathy Hepatomegaly Abnormality of the skeletal system Retinopathy Recurrent infections Hepatosplenomegaly Muscle weakness Abnormality of the pinna Abnormality of the liver Flat face Photophobia Delayed myelination Cholestasis Abnormality of immune system physiology Protruding tongue Inverted nipples Distal arthrogryposis Premature skin wrinkling Dolichocephaly Short palm Overriding aorta Infantile hypercalcemia Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Disproportionate tall stature Flat cornea Abnormal social behavior Renovascular hypertension Retinal pigment epithelial mottling Limited elbow extension Abnormality of the diencephalon Food intolerance Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Aortic arch aneurysm Abnormal carotid artery morphology Medial flaring of the eyebrow Wide nose Functional abnormality of male internal genitalia Highly arched eyebrow Tapered finger Limitation of joint mobility Round face Underdeveloped nasal alae Generalized-onset seizure Interphalangeal joint contracture of finger Atrophy/Degeneration involving the corticospinal tracts Hypohidrosis Vocal cord dysfunction Descending aorta hypoplasia Stellate iris Elfin facies Dyssynergia Elbow flexion contracture Nasal speech Early onset of sexual maturation Overfriendliness Radial deviation of finger Nystagmus-induced head nodding Keratitis Overlapping toe Thyroid hemiagenesis Bilateral vocal cord paralysis Cutis laxa Cerebellar hypoplasia Abnormality of the fingernails Progressive alopecia Aggressive behavior Arthritis Neonatal hypotonia Deeply set eye EEG abnormality Thin upper lip vermilion Reduced visual acuity Upslanted palpebral fissure Microphthalmia Blindness Nystagmus Hypoplasia of the fallopian tube Hip dislocation Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Camptodactyly of finger Platyspondyly Aplasia/Hypoplasia of the eyebrow Abnormality of epiphysis morphology Congenital glaucoma Diabetes insipidus Self-injurious behavior Glomerulonephritis Deep philtrum Reduced number of teeth Hypercholesterolemia Neoplasm of the skin Azoospermia Narrow palate Joint contracture of the hand Skin ulcer Dental crowding Congenital cataract Hypoplasia of dental enamel Subcutaneous nodule Abnormality of the metaphysis Osteoarthritis Abnormality of the ribs Increased serum lactate Abnormal bleeding Recurrent fractures Delayed eruption of teeth Hematuria Joint hypermobility Long face Hypoplasia of the uterus Sparse eyebrow Hyperparathyroidism Progressive spastic paraparesis Hypoventilation Hyperammonemia Progressive neurologic deterioration Coma Hepatic steatosis Lethargy Hypoglycemia Encephalopathy Dilatation Skeletal muscle atrophy Paroxysmal choreoathetosis Paroxysmal dyskinesia Morphological abnormality of the pyramidal tract Ketonuria Episodic ataxia Progressive spastic paraplegia Brisk reflexes Spastic paraparesis Paraparesis Diplopia Migraine Dyskinesia Paresthesia Paraplegia Generalized tonic-clonic seizures Spastic paraplegia Ketoacidosis Organic aciduria Premature ovarian insufficiency Hypotrichosis Hyperlipidemia Purpura Hypergonadotropic hypogonadism Hallucinations Primary amenorrhea Psychosis Bilateral sensorineural hearing impairment Amenorrhea Decreased testicular size Prominent nose Sensory neuropathy Abnormality of movement Prominent nasal bridge Seborrheic dermatitis Sparse hair Mental deterioration Hypogonadism Downslanted palpebral fissures Peripheral neuropathy Hypertelorism Acute hyperammonemia Propionyl-CoA carboxylase deficiency Necrotizing encephalopathy Encephalomalacia Neutrophilia Hyperglycinuria Pathologic fracture Abnormal joint morphology Hemivertebrae Broad forehead Chest pain Macroglossia Broad nasal tip Hypodontia Sleep disturbance Oral cleft Dysmetria Smooth philtrum Nausea and vomiting Pulmonic stenosis Neurological speech impairment Stroke Esotropia Abnormal cardiac septum morphology Scarring Craniosynostosis Wide mouth Paralysis Autistic behavior Hyperlordosis Developmental regression Abnormality of the kidney Cleft lip Joint laxity Coarse facial features Vesicoureteral reflux Otitis media Osteopenia Small nail Pointed chin Increased body weight Increased bone mineral density Narrow face Hoarse voice Aortic valve stenosis Gingival overgrowth Abnormal form of the vertebral bodies Mitral regurgitation Recurrent otitis media Hemiparesis Thick lower lip vermilion Renal hypoplasia Renal agenesis Ventricular hypertrophy Type II diabetes mellitus Hypsarrhythmia Cardiomegaly Coarctation of aorta Hypoplasia of penis Mitral valve prolapse Hypotelorism Narrow forehead Abnormality of the cardiovascular system Tetralogy of Fallot Microdontia Arthralgia Macrotia Glomerulopathy Cheilitis Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Abnormality of the renal tubule Odontogenic neoplasm Abnormal pupil morphology Buphthalmos Hyperphosphaturia Atelectasis Generalized hypopigmentation Taurodontia Periodontitis Gingivitis Atypical scarring of skin Joint swelling Renal tubular acidosis Osteomalacia Finger swelling Elevated maternal serum alpha-fetoprotein Autism Atrial septal defect Cerebral cortical atrophy Abdominal pain Osteoporosis Clinodactyly of the 5th finger Elevated serum creatine phosphokinase Delayed skeletal maturation Patent ductus arteriosus Pectus excavatum Obesity Hernia Absent speech Midface retrusion Ventricular septal defect Bicarbonaturia Tremor Intrauterine growth retardation Myopia Epicanthus Hypertension Ptosis Abnormal facial shape Dense posterior cortical cataract Hypoammonemia Wrist swelling Lentiglobus Abnormality of dentin Cold-induced sweating


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