Ataxia, and Renal dysplasia

Diseases related with Ataxia and Renal dysplasia

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


Top matches:

Medium match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Medium match JOUBERT SYNDROME 3; JBTS3


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 3; JBTS3

Medium match SENIOR-LOKEN SYNDROME


Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

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Other less relevant matches:

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 JOUBERT SYNDROME 2; JBTS2


Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

Low match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Low match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Low match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Low match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Low match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Top 5 symptoms//phenotypes associated to Ataxia and Renal dysplasia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Renal insufficiency Generalized hypotonia Muscular hypotonia Postaxial polydactyly Renal cyst Abnormality of the kidney Hypertelorism Cataract Retinal dystrophy Nephronophthisis Tremor Abnormal facial shape Hepatic fibrosis Epicanthus Visual impairment Low-set ears Short stature Depressed nasal bridge High palate Acute kidney injury Stage 5 chronic kidney disease Brachydactyly Oculomotor apraxia Gait disturbance Frontal bossing Visual loss Apraxia Blindness Craniosynostosis Molar tooth sign on MRI Abnormality of the liver Rod-cone dystrophy High forehead Hepatomegaly Episodic tachypnea Strabismus Accessory oral frenulum Dandy-Walker malformation Hearing impairment Coloboma Rigidity Failure to thrive Nephropathy Cognitive impairment Spasticity

Rare Symptoms - Less than 30% cases


Wide anterior fontanel Hypothyroidism Jaundice Elevated hepatic transaminase Joint hyperflexibility Hepatic steatosis Renal agenesis Esotropia Renal hypoplasia Glycosuria Abnormal cerebellum morphology Multicystic kidney dysplasia Abnormal retinal morphology Microphthalmia Depressivity Macrocephaly Renal cortical cysts Feeding difficulties Respiratory insufficiency Postaxial hand polydactyly Congenital cataract Trigonocephaly Posteriorly rotated ears Gait ataxia Micropenis Smooth philtrum Hypoplasia of the corpus callosum Cryptorchidism Recurrent urinary tract infections Exotropia Type I diabetes mellitus Micrognathia Fever Pain Hernia Cleft lip Abnormal corpus callosum morphology Low-set, posteriorly rotated ears Microcephaly Aplasia/Hypoplasia of the macula Congenital hepatic fibrosis Hypopigmentation of the skin Oral cleft Pulmonary hypoplasia Abnormality of the pinna Respiratory failure Upslanted palpebral fissure Edema Short neck Polycystic kidney dysplasia Diabetes mellitus Agenesis of corpus callosum Congenital blindness Growth delay Nausea Motor delay Highly arched eyebrow Retinal degeneration Cystic renal dysplasia Retinopathy Scarring Weight loss Vomiting Lower limb hypertonia Fatigue Dysarthria Ptosis Anemia Wide nasal bridge Anteverted nares Enlarged fossa interpeduncularis Neonatal breathing dysregulation Elongated superior cerebellar peduncle Central apnea Abnormal electroretinogram Cerebellar vermis hypoplasia Macular dystrophy Polymicrogyria Polydipsia Chronic kidney disease Hypogonadism Cone-shaped epiphysis Short thorax Cholangitis Thoracic dysplasia Apnea Cone-shaped epiphyses of the phalanges of the hand Feeding difficulties in infancy Recurrent lower respiratory tract infections Scaphocephaly Prominent metopic ridge Bilateral cryptorchidism Short femoral neck Pancreatic cysts Cutis laxa Prominent nasal bridge Short ribs Toe syndactyly Cleft upper lip Long face Broad nasal tip Widely spaced teeth Pyelonephritis Hypoplasia of the capital femoral epiphysis Cardiomyopathy Areflexia Arrhythmia Encephalopathy Conductive hearing impairment Headache Behavioral abnormality Congestive heart failure Diarrhea Myopathy Abnormality of the nervous system Cholestasis Respiratory distress Dysphagia Muscle weakness Absence of renal corticomedullary differentiation Frequent falls Bradykinesia Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Frontal upsweep of hair Short phalanx of finger Finger clinodactyly Sparse scalp hair Lobulated tongue Occipital meningocele Mesoaxial hand polydactyly Hypoplasia of olfactory tract Bulimia Hypothalamic hamartoma Mesoaxial polydactyly Tongue nodules Hamartoma of tongue Abnormal oral frenulum morphology Midline notch of upper alveolar ridge Preaxial foot polydactyly Short femur Meningocele Foot polydactyly Hamartoma Biparietal narrowing Partial agenesis of the corpus callosum Tibial bowing Abnormality of neuronal migration Y-shaped metacarpals Central Y-shaped metacarpal Preaxial hand polydactyly Macroglossia Aplasia/Hypoplasia of the corpus callosum Narrow forehead Tachypnea Microdontia Renal hypoplasia/aplasia Babinski sign Bifid uvula Preaxial polydactyly Delayed eruption of teeth Peripheral neuropathy Short distal phalanx of finger Hand polydactyly Wide mouth Umbilical hernia Skeletal dysplasia Prominent forehead Pneumonia Obesity Radial deviation of finger Abnormality of skin pigmentation Myalgia Elevated serum creatine phosphokinase Hypoketotic hypoglycemia Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Organic aciduria Glutaric aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Myoglobinuria Drowsiness Fatigable weakness Rhabdomyolysis Oliguria Progressive spastic quadriplegia Restrictive ventilatory defect Elevated plasma acylcarnitine levels Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Ketotic hypoglycemia Personality disorder Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Difficulty climbing stairs Ventricular fibrillation Dyspnea Lethargy Gliosis Generalized muscle weakness Tetraplegia Muscle cramps Coma Metabolic acidosis Lactic acidosis Limb muscle weakness Nausea and vomiting Abnormality of the cerebral white matter Dilated cardiomyopathy Aciduria Respiratory tract infection Hyperlordosis Hypertrophic cardiomyopathy Telecanthus Inguinal hernia Proximal muscle weakness Hypoglycemia Difficulty walking Arthralgia Acidosis Increased serum lactate Waddling gait Stridor Scapular winging Hemiplegia Back pain Slurred speech Easy fatigability Poor head control Mutism Ragged-red muscle fibers Hyperammonemia Spastic tetraparesis Pancreatitis Exercise intolerance Cardiomegaly Cardiac arrest Clonus Leukodystrophy Decreased liver function Anorexia Left ventricular hypertrophy Heterotopia Pachygyria Abnormality of the genital system Tetraparesis Lower limb spasticity Lumbar kyphosis Abnormal heart morphology Photophobia Encephalocele Sensorineural hearing impairment Hypertension Abnormality of the foot Dolichocephaly Abnormality of the skeletal system Camptodactyly Neonatal hypotonia Hydrocephalus Nyctalopia Chorioretinal coloboma Hypermetropia Abnormality of alkaline phosphatase activity Atretic vas deferens Abnormality of endocrine pancreas physiology Abnormality of exocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Decreased numbers of nephrons Papillary cystadenoma of the epididymis Epididymal cyst Patent foramen ovale Hypoplasia of the brainstem Multiple glomerular cysts Thickened superior cerebellar peduncle Cerebellar hypoplasia Abnormality of cardiovascular system morphology Short nose Truncal ataxia Delayed ability to walk Optic atrophy Myopia Retinal coloboma Noncommunicating hydrocephalus Brainstem dysplasia External genital hypoplasia Dysgenesis of the cerebellar vermis Hypoplastic male external genitalia Abnormality of ocular smooth pursuit Metopic synostosis Abnormal saccadic eye movements Rotary nystagmus Abnormal renal physiology Agenesis of cerebellar vermis Optic nerve coloboma Impaired smooth pursuit Absent vas deferens Reduced sperm motility Open mouth Diabetes insipidus Hirsutism Premature ovarian insufficiency Infertility Proteinuria Arthritis Nephritis Mandibular prognathia Polyuria Cerebral cortical atrophy Hypospadias Nephrolithiasis Abnormality of the dentition Exudative retinopathy Multiple small medullary renal cysts Azotemia Abnormality of bone mineral density Tapetoretinal degeneration High hypermetropia Retinal dysplasia Tubulointerstitial nephritis Peripheral visual field loss Incoordination Horseshoe kidney Renal Fanconi syndrome Renal cell carcinoma Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Maturity-onset diabetes of the young Bicornuate uterus Elevated serum creatinine Gout Exocrine pancreatic insufficiency Proportionate short stature Paraparesis Progressive visual loss Hyperuricemia Glomerulopathy Involuntary movements Hypoplasia of the uterus Glucose intolerance Unilateral renal agenesis Pyloric stenosis Spastic paraparesis Abnormality of retinal pigmentation Recurrent respiratory infections Polyhydramnios Clinodactyly Ectopia lentis Hand tremor Hypoplasia of the iris Limb hypertonia Aniridia Hypopituitarism Adrenal insufficiency Albinism Anophthalmia Nephroblastoma Bilateral ptosis Action tremor Anosmia Optic nerve hypoplasia Opacification of the corneal stroma Narrow palate Toe walking Urinary urgency Amblyopia Dental crowding Choanal atresia Microcornea Hypoplasia of the fovea Ectopia pupillae Falls Hypoplasia of the antihelix Spastic gait Absent speech Dilatation Syndactyly Intellectual disability, severe Cone/cone-rod dystrophy Cleft palate Impaired vibratory sensation Increased proinsulin:insulin ratio Severe sensorineural hearing impairment Hyposmia Aphakia Central adrenal insufficiency Vascular tortuosity Macular hypoplasia Retinal vascular tortuosity Central hypothyroidism Abnormal glucose tolerance Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Retinal detachment Arachnodactyly Pigmentary retinopathy Hemivertebrae Rib fusion Polysplenia Broad neck Enlarged kidney Protuberant abdomen Generalized hyperpigmentation Cystic hygroma Premature graying of hair Redundant skin Muscle stiffness Subcortical cerebral atrophy Hydrops fetalis Thickened skin Abnormality of the face Omphalocele Depressed nasal ridge Limb undergrowth Specific learning disability Ascites Micromelia Anal atresia Oxycephaly Lymphangioma Lower limb hyperreflexia Hyperactivity Ankle clonus Attention deficit hyperactivity disorder Intellectual disability, moderate Muscular hypotonia of the trunk Macrotia Distal lower limb amyotrophy Reduced visual acuity Distal lower limb muscle weakness Glaucoma Kyphosis Abnormality of the cerebellar vermis Hypertonia Hydrometrocolpos Hyperesthesia Neoplasm Extrapulmonary sequestrum Hypoplastic colon Hypoplasia of the small intestine Kyphoscoliosis Cerebral cortical hemiatrophy Pancreatic fibrosis Abnormality of blood glucose concentration



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