Ataxia, and Polycystic kidney dysplasia

Diseases related with Ataxia and Polycystic kidney dysplasia

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


Top matches:

Medium match MECKEL SYNDROME 13; MKS13


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Micrognathia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME 13; MKS13

Medium match VON HIPPEL-LINDAU DISEASE


Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

Medium match JOUBERT SYNDROME WITH OCULORENAL DEFECT


Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

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Other less relevant matches:

Medium 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

Medium 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

Low match FAMILIAL CEREBRAL SACCULAR ANEURYSM


Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006). Genetic Heterogeneity of Intracranial Berry AneurysmIntracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2.Other mapped loci for intracranial berry aneurysm include ANIB2 (OMIM ) on chromosome 19q13, ANIB3 (OMIM ) on 1p36.13-p34.3, ANIB4 (OMIM ) on 5p15.2-14.3, ANIB5 (OMIM ) on Xp22, ANIB6 (OMIM ) on 9p21, ANIB7 (OMIM ) on 11q24-q25, ANIB8 (OMIM ) on 14q23, ANIB9 (OMIM ) on 2q, ANIB10 (OMIM ) on 8q, and ANIB11 (OMIM ) on 8p22.

FAMILIAL CEREBRAL SACCULAR ANEURYSM Is also known as aneurysmal subarachnoid hemorrhage, familial|familial intracranial saccular aneurysm|familial berry aneurysm

Related symptoms:

  • Seizures
  • Hypertension
  • Dilatation
  • Abnormality of the kidney
  • Coarctation of aorta


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL CEREBRAL SACCULAR ANEURYSM

Low match BOR SYNDROME


Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Low match JOUBERT SYNDROME 33; JBTS33


Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015).For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 33; JBTS33

Low match JOUBERT SYNDROME 5; JBTS5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 5; JBTS5

Low match JOUBERT SYNDROME 35; JBTS35


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Top 5 symptoms//phenotypes associated to Ataxia and Polycystic kidney dysplasia

Symptoms // Phenotype % cases
Abnormality of the kidney Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Molar tooth sign on MRI Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Muscular hypotonia Apraxia Nystagmus Renal cyst Cerebellar vermis hypoplasia Multicystic kidney dysplasia Oculomotor apraxia Long face Hydrocephalus Retinal dystrophy Highly arched eyebrow Apnea Abnormal facial shape Gait disturbance Renal dysplasia Visual impairment Polydactyly

Rare Symptoms - Less than 30% cases


Low-set, posteriorly rotated ears Occipital meningocele Prominent nasal bridge Renal agenesis Abnormality of the liver Encephalocele Dyspnea Episodic tachypnea Hydronephrosis Renal insufficiency Behavioral abnormality Blindness Hypertension Anteverted nares Stage 5 chronic kidney disease Hepatic steatosis Renal hypoplasia/aplasia Hand polydactyly Congenital blindness Biparietal narrowing Nephronophthisis Abnormality of neuronal migration Depressed nasal bridge Agenesis of cerebellar vermis Aplasia/Hypoplasia of the corpus callosum Ptosis Tachypnea Dysphagia Pachygyria Heterotopia Micrognathia Aplasia/Hypoplasia of the cerebellar vermis Hepatomegaly Intellectual disability, severe Hearing impairment Fever Arrhythmia Conductive hearing impairment Nausea and vomiting Rod-cone dystrophy Cataract Abnormality of the pinna Strabismus Telecanthus Renal cortical cysts Dilatation Tremor Foot polydactyly Growth delay Cleft palate Pulmonary hypoplasia High palate Low-set ears Failure to thrive Sensorineural hearing impairment Increased muscle lipid content Ketotic hypoglycemia Loss of ability to walk Glutaric aciduria Abnormal corpus callosum morphology Elevated plasma acylcarnitine levels Reduced protein C activity Progressive spastic quadriplegia Reye syndrome-like episodes Abnormality of the renal tubule Acute pancreatitis Glutaric acidemia Respiratory arrest Nonketotic hypoglycemia Arthralgia of the hip Gastrointestinal inflammation Episodic vomiting Narcolepsy Hypersarcosinemia Generalized aminoaciduria Personality disorder Oliguria Limb tremor Impaired mastication Hypoglycemic coma Ethylmalonic aciduria Cataplexy Myoglobinuria Proximal tubulopathy Cardiac arrest Mutism Ragged-red muscle fibers Hyperammonemia Spastic tetraparesis Pancreatitis Scapular winging Exercise intolerance Type I diabetes mellitus Clonus Easy fatigability Leukodystrophy Decreased liver function Wide anterior fontanel Anorexia Left ventricular hypertrophy Abnormality of the genital system Tetraparesis Cardiomegaly Waddling gait Poor head control Slurred speech Medulloblastoma Ketosis Exercise-induced myalgia Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Progressive proximal muscle weakness Drowsiness Back pain Fatigable weakness Acute kidney injury Rhabdomyolysis Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Stridor Hemiplegia Fatigable weakness of distal limb muscles Facial palsy Fatigable weakness of neck muscles Branchial cyst Bilateral renal dysplasia Renal steatosis Hypoplasia of the cochlea Cochlear malformation Renal malrotation Branchial fistula Arteria lusoria Body odor Euthyroid goiter Abnormality of the middle ear ossicles Bilateral renal agenesis Overbite Lacrimal duct stenosis Ureteropelvic junction obstruction Lacrimation abnormality Stenosis of the external auditory canal External ear malformation Unilateral renal hypoplasia Lacrimal duct aplasia Premature graying of hair Central apnea Recurrent urinary tract infections Progressive visual loss Nyctalopia Scarring Thickened superior cerebellar peduncle Neonatal breathing dysregulation Impaired renal concentrating ability Tapetoretinal degeneration Retinal coloboma Abnormality of the renal collecting system Cognitive impairment Gustatory lacrimation Enlarged cochlear aqueduct Cholesteatoma Dilatated internal auditory canal Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the cerebrum Mixed hearing impairment Ectopic kidney Abnormality of branched chain family amino acid metabolism Aortic root aneurysm Cerebral berry aneurysm Encephalomalacia Abnormality of brainstem morphology Oculomotor nerve palsy Aortic dissection Transient ischemic attack Dilatation of the cerebral artery Subarachnoid hemorrhage Visual field defect Myopia Intracranial hemorrhage Atherosclerosis Hemiparesis Coarctation of aorta Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormal circle of Willis morphology Microphthalmia Preauricular pit Bilateral sensorineural hearing impairment Epiphora Cupped ear Atresia of the external auditory canal Congenital hip dislocation Narrow face Preauricular skin tag Atrial fibrillation Renal hypoplasia Oligohydramnios Retrognathia Microdontia Intestinal malrotation Vesicoureteral reflux Bifid uvula Flat face Microtia Paralysis Increased serum lactate Aciduria Diarrhea Gliosis Polyuria Dilated fourth ventricle Congenital hepatic fibrosis Abnormality of the hypothalamus-pituitary axis Undetectable electroretinogram Tubular atrophy Postaxial foot polydactyly Severe vision loss Hypoplasia of the brainstem Renal corticomedullary cysts Chorioretinal coloboma Polydipsia Intellectual disability, progressive Hepatic fibrosis Aganglionic megacolon Postaxial hand polydactyly Nephropathy Tubulointerstitial fibrosis Multiple small medullary renal cysts Severe global developmental delay Hernia Abnormality of the nervous system Micropenis Posteriorly rotated ears Agenesis of corpus callosum Inguinal hernia Abnormal heart morphology Clinodactyly Absent speech Brainstem dysplasia Syndactyly Frontal bossing Brachydactyly Epicanthus Cryptorchidism Hypertelorism Short stature Renal sodium wasting Iris coloboma Coloboma Feeding difficulties in infancy Neurological speech impairment Telangiectasia of the skin Hemiplegia/hemiparesis Aplasia/Hypoplasia of the cerebellum Increased intracranial pressure Migraine Sensory neuropathy Retinal detachment Glaucoma Multiple renal cysts Hyperhidrosis Visual loss Neoplasm Occipital encephalocele Retinopathy Cerebellar hypoplasia Flexion contracture Renal cell carcinoma Capillary hemangioma Wide mouth Retinal capillary hemangioma Autistic behavior Hepatosplenomegaly Abnormality of cardiovascular system morphology Anemia Scoliosis Neoplasm of the middle ear Vascular neoplasm Papillary cystadenoma of the epididymis Arteriovenous malformation Neuroendocrine neoplasm Abnormality of the lymphatic system Visceral angiomatosis Pancreatic cysts Pheochromocytoma Abnormality of the pancreas Abnormality of the retinal vasculature Abnormality of the cerebral vasculature Cleft lip Toe syndactyly Generalized muscle weakness Areflexia Arthralgia High forehead Acidosis Weight loss Gait ataxia Respiratory failure Elevated serum creatine phosphokinase Encephalopathy Difficulty walking Depressivity Headache Congestive heart failure Vomiting Myopathy Edema Cardiomyopathy Jaundice Hypoglycemia Respiratory insufficiency Limb muscle weakness Tetraplegia Muscle cramps Coma Metabolic acidosis Lactic acidosis Nausea Joint hyperflexibility Congenital cataract Elevated hepatic transaminase Abnormality of the cerebral white matter Lethargy Dilated cardiomyopathy Respiratory tract infection Hyperlordosis Hypertrophic cardiomyopathy Myalgia Proximal muscle weakness Respiratory distress Fatigue Cleft upper lip Radial deviation of finger Meningocele Hamartoma Partial agenesis of the corpus callosum Tibial bowing Abnormal retinal morphology Preaxial hand polydactyly Bilateral cryptorchidism Trigonocephaly Preaxial foot polydactyly Preaxial polydactyly Finger clinodactyly Dandy-Walker malformation Esotropia Broad nasal tip Abnormal cerebellum morphology Postaxial polydactyly Oral cleft Short femur Accessory oral frenulum Macrocephaly Midline notch of upper alveolar ridge Dysarthria Motor delay Feeding difficulties Spasticity Pain Muscle weakness Central Y-shaped metacarpal Y-shaped metacarpals Abnormal oral frenulum morphology Mesoaxial hand polydactyly Hypoplasia of olfactory tract Bulimia Hypothalamic hamartoma Mesoaxial polydactyly Tongue nodules Hamartoma of tongue Lobulated tongue Cone/cone-rod dystrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Sparse and thin eyebrow, related diseases and genetic alterations Flexion contracture and Omphalocele, related diseases and genetic alterations Cleft palate and Rod-cone dystrophy, related diseases and genetic alterations Micrognathia and Depressivity, related diseases and genetic alterations Abnormal facial shape and Abnormal cerebellum morphology, related diseases and genetic alterations

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