Ataxia, and Renal cyst

Diseases related with Ataxia and Renal cyst

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


Top matches:

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 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

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Other less relevant matches:

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

Low 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

Low match JOUBERT SYNDROME 7; JBTS7


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

Low match JOUBERT SYNDROME 21; JBTS21


Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by Akizu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 21; JBTS21

Low 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

Low match JOUBERT SYNDROME 14; JBTS14


Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Low match REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Molar tooth sign on MRI Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Polydactyly

Uncommon Symptoms - Between 30% and 50% cases


Rod-cone dystrophy Apraxia Oculomotor apraxia Ptosis Retinal dystrophy Encephalocele Occipital encephalocele Cerebellar vermis hypoplasia Nephronophthisis Abnormality of the kidney Hearing impairment Cataract Postaxial polydactyly Strabismus Retinal degeneration Sensorineural hearing impairment Blindness Retinopathy Stage 5 chronic kidney disease Nyctalopia Seizures Apnea Growth delay

Rare Symptoms - Less than 30% cases


Progressive visual loss Highly arched eyebrow Cone/cone-rod dystrophy Abnormality of eye movement Peripheral neuropathy Renal dysplasia Renal insufficiency Abnormality of the eye Hypoplasia of the brainstem Dandy-Walker malformation Hepatic fibrosis Scarring Hypertension Neonatal breathing dysregulation Congenital blindness Cognitive impairment Visual impairment Low-set ears Abnormal facial shape Episodic tachypnea Tapetoretinal degeneration Cerebellar hypoplasia Central apnea Abnormal renal physiology Tubulointerstitial nephritis Retinal dysplasia Short fourth metatarsal Multiple small medullary renal cysts Congenital hepatic fibrosis Abnormality of bone mineral density Azotemia Severe sensorineural hearing impairment Exudative retinopathy Hypertelorism Epicanthus Downslanted palpebral fissures Peripheral visual field loss Sensorimotor neuropathy Hyperoxaluria Abnormality of retinal pigmentation Visual loss Weight loss Photophobia Hypermetropia Nausea Nephropathy Involuntary movements Incoordination High hypermetropia Chronic kidney disease Polydipsia Premature ovarian insufficiency Nephritis Cone-shaped epiphysis Polyuria Intellectual disability, severe Diabetes insipidus Hydrocephalus Microphthalmia Malar flattening Ichthyosis Vomiting Epiphyseal stippling Arrhythmia Hyporeflexia Pes cavus Neonatal hypotonia Limb muscle weakness Epiphyseal dysplasia Wide nasal bridge Polyneuropathy Bilateral ptosis Anosmia Sensory impairment Pigmentary retinopathy Progressive hearing impairment Cardiomegaly Cardiomyopathy Delayed speech and language development Miosis Deeply set eye Multiple epiphyseal dysplasia Leukodystrophy Absent speech Pneumonia Increased CSF protein Posteriorly rotated ears High forehead Irritability Morning glory anomaly Coloboma Short philtrum Prominent nasal bridge Open mouth Tented upper lip vermilion Meningocele Multiple renal cysts Breathing dysregulation Congestive heart failure Ventriculomegaly Abnormality of the skeletal system Spastic gait Babinski sign Hypogonadism Rigidity Bradykinesia Frequent falls Lower limb spasticity Impaired vibratory sensation Gait disturbance Toe walking Urinary urgency Macular dystrophy Lower limb hyperreflexia Ankle clonus Distal lower limb amyotrophy Distal lower limb muscle weakness Obesity Dysarthria Lower limb hypertonia Micrognathia Muscular hypotonia Retinal coloboma Agenesis of cerebellar vermis Renal cortical cysts Aplasia/Hypoplasia of the cerebellar vermis Impaired renal concentrating ability Thickened superior cerebellar peduncle Flexion contracture Motor delay Polycystic kidney dysplasia Depressed nasal bridge Anteverted nares Hydronephrosis Telecanthus Recurrent urinary tract infections Multicystic kidney dysplasia Cystic renal dysplasia Hydrometrocolpos Fatigue Hydranencephaly Large fontanelles Decreased liver function Short ribs Tachypnea Anophthalmia Bell-shaped thorax Abnormal pattern of respiration Hyperechogenic kidneys Pulmonary hypoplasia Wide cranial sutures Posterior fossa cyst Elongated superior cerebellar peduncle Cerebellar malformation Single naris Short stature Anemia Heterotopia Polymicrogyria Hyperesthesia Horizontal nystagmus Scoliosis Talipes equinovarus Hernia Inguinal hernia Genu valgum Postaxial hand polydactyly Renal hypoplasia Mutism Dyspnea Abnormal retinal morphology Severe postnatal growth retardation Abnormal corpus callosum morphology Meningoencephalocele Brainstem dysplasia Absence of renal corticomedullary differentiation Hypoplasia of the corpus callosum Elevated levels of phytanic acid



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