Ataxia, and Nephrolithiasis

Diseases related with Ataxia and Nephrolithiasis

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


Top matches:

Low match PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Low match RENAL CYSTS AND DIABETES SYNDROME


Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

Low match CEREBROTENDINOUS XANTHOMATOSIS


Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

CEREBROTENDINOUS XANTHOMATOSIS Is also known as cerebral cholesterinosis|sterol 27-hydroxylase deficiency|ctx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEREBROTENDINOUS XANTHOMATOSIS

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Other less relevant matches:

Low match INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Low match ATYPICAL RETT SYNDROME


Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

ATYPICAL RETT SYNDROME Is also known as atypical rtt|rett syndrome variant|autism, dementia, ataxia, and loss of purposeful hand use|rts

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL RETT SYNDROME

Low match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Low match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Low match WILLIAMS SYNDROME


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

Low match RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT


RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT Is also known as rta, distal type, autosomal dominant|renal tubular acidosis i|rta, gradient type|rta, classic type

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Acidosis
  • Postnatal growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT

Low match IMINOGLYCINURIA


Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Spasticity
  • Blindness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMINOGLYCINURIA

Top 5 symptoms//phenotypes associated to Ataxia and Nephrolithiasis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Nephrolithiasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Generalized hypotonia Short stature Seizures Tremor Behavioral abnormality Arthritis Intellectual disability, mild Osteoporosis Aggressive behavior Failure to thrive Jaundice Dystonia Dysarthria Renal insufficiency Diabetes mellitus Progressive neurologic deterioration Cerebral cortical atrophy Anxiety Hyperreflexia Rigidity Clinodactyly of the 5th finger Scoliosis Delayed speech and language development Hypertonia Abnormality of extrapyramidal motor function Nephrocalcinosis Developmental regression Hypercalciuria Peripheral neuropathy Dementia Depressivity Epicanthus Sensorineural hearing impairment Cataract Strabismus Abnormality of the dentition Proteinuria Hyperuricemia Abnormality of the nervous system Wide mouth Neurological speech impairment Gout

Rare Symptoms - Less than 30% cases


Increased body weight Vomiting Hepatitis Irritability Myocardial infarction Cholelithiasis Cholestasis Truncal ataxia Congenital cataract Dysphagia Abnormal facial shape Malabsorption Joint stiffness Abnormality of the cerebral white matter Hepatomegaly Clumsiness Abnormality of the eye Recurrent urinary tract infections EEG abnormality Oral-pharyngeal dysphagia Dyslexia Involuntary movements Cerebral atrophy Pathologic fracture Osteomalacia Nausea and vomiting Visual impairment Wide nasal bridge Confusion Constipation Thick vermilion border Attention deficit hyperactivity disorder Abnormality of the fingernails Paralysis Autistic behavior Schizophrenia Cerebral palsy Progressive encephalopathy Pain Coarse facial features Kyphoscoliosis Gastroesophageal reflux Autism Anemia Skeletal muscle atrophy Encephalopathy Long philtrum Kyphosis Arthralgia Cryptorchidism Flexion contracture Microcephaly Esotropia Cirrhosis Postnatal growth retardation Acidosis Absent speech Midface retrusion Atrial septal defect High forehead Cognitive impairment Renal hypoplasia Hyperactivity Glucose intolerance Unilateral renal agenesis Dysmetria Peripheral axonal neuropathy Polyneuropathy Spastic paraparesis Convex nasal ridge Hypotelorism Arnold-Chiari type I malformation Paraparesis Renal agenesis Cardiomyopathy Renal cyst Hepatic steatosis Nephropathy Joint hyperflexibility Infertility Abnormality of the liver Abnormality of the kidney Elevated hepatic transaminase Hyperuricosuria Hypothyroidism Hypospadias Muscle weakness Arrhythmia Glycosuria Hypertension Motor delay Nystagmus Excessive purine production Umbilical hernia Recurrent otitis media Increased bone mineral density Hernia Narrow face Hoarse voice Aortic valve stenosis Obesity Gingival overgrowth Amblyopia Abnormal form of the vertebral bodies Mitral regurgitation Open mouth Hemiparesis Short nose Periodic hypokalemic paresis Blindness Pectus excavatum Patent ductus arteriosus Abnormal heart morphology Thick lower lip vermilion Severe global developmental delay Small nail Ventricular hypertrophy Type II diabetes mellitus Hypsarrhythmia Malar flattening Congestive heart failure Delayed skeletal maturation Abnormal dermatoglyphics Reduced bone mineral density Distal renal tubular acidosis Arnold-Chiari malformation Infantile muscular hypotonia Ischemic stroke Sacral dimple Bicuspid aortic valve Feeding difficulties Widely spaced teeth Progressive hearing impairment Depressed nasal bridge Myopia Myopathy Osteopenia Cutis laxa Spina bifida occulta Abnormality of dental enamel Intrauterine growth retardation Macrocephaly Gait disturbance Ventricular septal defect Respiratory distress Hemivertebrae Hypogonadotrophic hypogonadism Pointed chin Inguinal hernia Elevated serum creatine phosphokinase Pes planus Hyperglycinuria Smooth philtrum Genu valgum Carious teeth Pulmonic stenosis Corneal opacity Small for gestational age Broad forehead Stroke Abnormal cardiac septum morphology Scarring Blepharophimosis Craniosynostosis Oral cleft Protruding ear Hydroxyprolinuria Hyperlordosis Feeding difficulties in infancy Low-set, posteriorly rotated ears Micropenis Intellectual disability, moderate Cleft lip Hypertrophic cardiomyopathy Prolinuria Joint laxity Cystinuria Everted lower lip vermilion Cardiomegaly Otitis media Macrotia Hypoplasia of penis Mitral valve prolapse Cerebellar hypoplasia Narrow forehead Abnormality of the cardiovascular system Tetralogy of Fallot Dehydration Microdontia Recurrent respiratory infections Aciduria Abdominal pain Sleep disturbance Dental malocclusion Adducted thumb Hypophosphatemia Vesicoureteral reflux Chest pain Sudden cardiac death Full cheeks Macroglossia Broad nasal tip Hypodontia Postural instability Glaucoma Coarctation of aorta Osteopetrosis Abnormality of pelvic girdle bone morphology Rectal prolapse Abnormality of the diencephalon Medial flaring of the eyebrow Retinal vascular tortuosity Increased nuchal translucency Elfin facies Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Bilateral vocal cord paralysis Abnormality of nervous system morphology Dysgraphia Arterial stenosis Periorbital edema Thyroid hypoplasia Peptic ulcer Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Periorbital fullness Gait imbalance Abnormality of refraction Cerebral ischemia Villous atrophy Abnormal carotid artery morphology Paroxysmal bursts of laughter Abnormality of the cerebral vasculature Flat cornea Renal artery stenosis Abnormality of the bladder Synostosis of joints Coronary artery stenosis Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Food intolerance Nocturia Infantile hypercalcemia Abnormality of the gastric mucosa Renovascular hypertension Abnormal social behavior Obsessive-compulsive trait Abnormal endocardium morphology Supravalvular aortic stenosis Aortic arch aneurysm Overriding aorta Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Tubulointerstitial abnormality Abnormality of the ankles Vascular tortuosity Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Myxomatous mitral valve degeneration Enuresis Abnormality of the neck Incoordination Rickets Celiac disease Vertebral segmentation defect Premature graying of hair Hallux valgus Open bite Loss of consciousness Polyuria Atrophy/Degeneration involving the corticospinal tracts Metabolic acidosis Tracheoesophageal fistula Hypoplastic toenails Hypocalcemia Abnormality of dental morphology Obsessive-compulsive behavior Prematurely aged appearance Chronic otitis media Nephritis Renal tubular acidosis Abnormality of the voice Portal hypertension Precocious puberty Radioulnar synostosis Failure to thrive in infancy Periodic paralysis Hypercalcemia Redundant skin Dysphonia Polycystic ovaries High hypermetropia Facial cleft Large earlobe Vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Tubulointerstitial nephritis Right ventricular hypertrophy Overfriendliness Early onset of sexual maturation Dyssynergia Chronic constipation Hypoplasia of the zygomatic bone Stellate iris Blue irides Functional abnormality of male internal genitalia Cleft palate Down-sloping shoulders Restlessness Descending aorta hypoplasia Multiple renal cysts Patellar dislocation Abnormality of the vasculature Pulmonary artery stenosis Poor coordination Vocal cord dysfunction Soft skin Nevus flammeus Posterior embryotoxon Abnormality of lipid metabolism Megalocornea Insomnia Ptosis Facial grimacing Micrognathia Precocious atherosclerosis Abnormality of the dentate nucleus Palatal myoclonus EMG: axonal abnormality Frontal lobe dementia Abnormality of cholesterol metabolism Tendon xanthomatosis Juvenile cataract Giant cell hepatitis Xanthelasma Pseudobulbar paralysis Myelopathy Decreased HDL cholesterol concentration Xanthomatosis Tuberous xanthoma Angina pectoris Frontotemporal dementia Delusions Abnormality of the periventricular white matter Agitation Abnormality of vision Hypercholesterolemia Atherosclerosis Joint dislocation Hallucinations Chronic diarrhea Intention tremor EEG with generalized slow activity Abnormality of central somatosensory evoked potentials Cerebral calcification Abnormality of epiphysis morphology Progressive spinal muscular atrophy Hyperoxaluria Hypocholesterolemia Epiphyseal stippling Severe hearing impairment Constriction of peripheral visual field Impulsivity Spinal muscular atrophy Leukodystrophy Hepatic fibrosis Progressive muscle weakness Rhizomelia Large fontanelles Low-set ears Abnormality of the face Ichthyosis Dolichocephaly Nyctalopia Retinopathy Respiratory tract infection Facial palsy Neonatal hypotonia Rod-cone dystrophy Anteverted nares Optic atrophy High palate Optic disc pallor Parkinsonism Elevated levels of phytanic acid Stage 5 chronic kidney disease Renal cell carcinoma Proportionate short stature Acute kidney injury Glomerulopathy Hypoplasia of the uterus Polydipsia Pyloric stenosis Chronic kidney disease Multicystic kidney dysplasia Horseshoe kidney Renal dysplasia Hirsutism Mandibular prognathia Elevated serum creatinine Uric acid nephrolithiasis Abnormality of skeletal muscles Increased urinary hypoxanthine Abnormal aortic morphology High-frequency hearing impairment Triangular face Abnormality of eye movement Hypermetropia Prominent forehead Pneumonia Areflexia Recurrent infections Exocrine pancreatic insufficiency Bicornuate uterus Progressive cerebellar ataxia Abnormality of endocrine pancreas physiology Abnormal cerebellum morphology Neurodegeneration Paraplegia Spastic paraplegia Abnormal pyramidal sign Pallor Myoclonus Diarrhea Cerebellar atrophy Respiratory insufficiency Abnormality of alkaline phosphatase activity Atretic vas deferens Abnormality of exocrine pancreas physiology Maturity-onset diabetes of the young Aplasia/Hypoplasia of the pancreas Decreased numbers of nephrons Papillary cystadenoma of the epididymis Epididymal cyst Absent vas deferens Multiple glomerular cysts Renal cortical cysts Reduced sperm motility Renal Fanconi syndrome Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Very long chain fatty acid accumulation Ventriculomegaly Atypical or prolonged hepatitis Bruising susceptibility Leukoencephalopathy Leukopenia Aminoaciduria Spontaneous abortion Muscle stiffness Bone pain Decreased liver function Osteoarthritis Psychosis Ascites Coma Hemolytic anemia Hepatic failure Abnormality of the hand Joint hypermobility Nausea Paresthesia Poor speech Pruritus Difficulty walking Hepatosplenomegaly Weight loss Thrombocytopenia Splenomegaly Edema Fatigue Drooling Back pain Podagra Neoplasm of the liver Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Hyperphosphaturia Abnormality of mitochondrial metabolism Esophageal varix Chondrocalcinosis Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Hypoparathyroidism Hepatocellular carcinoma Joint swelling Abnormality of blood and blood-forming tissues Arthropathy Global brain atrophy Personality changes Neoplasm Bladder stones Intellectual disability, severe Intellectual disability, profound Hyperventilation Loss of speech Overweight Thoracic scoliosis Prolonged QT interval Alzheimer disease Aplasia/Hypoplasia of the cerebellum Cachexia Abnormality of the metacarpal bones Accelerated skeletal maturation Postnatal microcephaly Fine hair Apraxia Alkalosis Generalized-onset seizure Underdeveloped nasal alae Short foot Inability to walk Wide nose Abnormality of movement Muscular dystrophy Camptodactyly of finger Mental deterioration Apnea Muscular hypotonia of the trunk Gait ataxia Bruxism Developmental stagnation Testicular atrophy Hematuria Focal dystonia Megaloblastic anemia Self-mutilation Opisthotonus Athetosis Proximal placement of thumb Self-injurious behavior Finger clinodactyly Spastic gait Stereotypy Choreoathetosis Chorea Hip dislocation Motor deterioration Clinodactyly Gait apraxia Hypocapnia Nonprogressive encephalopathy Intermittent hyperventilation Abnormality of the antitragus Respiratory alkalosis Short distal phalanx of the thumb Abnormal muscle tone Prolonged QTc interval Esodeviation Abnormal T-wave Astrocytosis Hyperornithinemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Bruising susceptibility, related diseases and genetic alterations Intrauterine growth retardation and Dysphagia, related diseases and genetic alterations Low-set ears and Dolichocephaly, related diseases and genetic alterations Pain and Renal hypoplasia, related diseases and genetic alterations Failure to thrive and Jaundice, related diseases and genetic alterations Muscular hypotonia and Optic atrophy, related diseases and genetic alterations

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