Ataxia, and Nephrotic syndrome

Diseases related with Ataxia and Nephrotic syndrome

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


Top matches:

Low match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH SENSORINEURAL DEAFNESS


Familial steroid-resistant nephrotic syndrome with sensorineural deafness is a rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH SENSORINEURAL DEAFNESS

Low match CAMOS SYNDROME


CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.

CAMOS SYNDROME Is also known as scar5|cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CAMOS SYNDROME

Low match GALLOWAY-MOWAT SYNDROME 5; GAMOS5


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

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Other less relevant matches:

Low match ACTION MYOCLONUS-RENAL FAILURE SYNDROME


Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.

ACTION MYOCLONUS-RENAL FAILURE SYNDROME Is also known as myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epm4|amrf|action myoclonus-renal failure syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Anemia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTION MYOCLONUS-RENAL FAILURE SYNDROME

Low match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Low match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Low match CEDNIK SYNDROME


CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE


X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Low match INFANTILE SIALIC ACID STORAGE DISEASE; ISSD


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Top 5 symptoms//phenotypes associated to Ataxia and Nephrotic syndrome

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Proteinuria Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Glomerulosclerosis

Uncommon Symptoms - Between 30% and 50% cases


Focal segmental glomerulosclerosis

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Generalized hypotonia Hearing impairment Stage 5 chronic kidney disease Cerebellar atrophy Cerebral atrophy Failure to thrive Renal insufficiency Sensorineural hearing impairment Nystagmus Growth delay Short stature Peripheral neuropathy Severe global developmental delay Hypogonadism Hypertelorism Muscular hypotonia Dysarthria Optic atrophy

Rare Symptoms - Less than 30% cases


Macrotia Narrow forehead Scoliosis Hypoplasia of the corpus callosum Motor delay High palate Feeding difficulties Delayed speech and language development Congestive heart failure Polymicrogyria Esotropia Strabismus Stroke Ptosis Brain atrophy Status epilepticus Hypothyroidism Ichthyosis Epicanthus Diffuse mesangial sclerosis Prominent nasal bridge Steroid-resistant nephrotic syndrome Edema Anteverted nares Pachygyria Gait ataxia Anemia Arachnodactyly Nephropathy Generalized-onset seizure Muscular hypotonia of the trunk Myoclonus Hypoalbuminemia Glomerulopathy Ventriculomegaly Hydrops fetalis Gingival overgrowth Absence seizures Cardiomegaly Abnormality of the thorax Metaphyseal irregularity Aspiration Abnormality of the skeletal system Esophageal atresia Fair hair Ascites Finger clinodactyly Stereotypy Dysostosis multiplex Postnatal microcephaly Open mouth Conjugated hyperbilirubinemia Visceromegaly Premature birth Rapid neurologic deterioration Hypopigmentation of the skin Osteopenia Splenomegaly Dilatation Hepatomegaly Central hypothyroidism Shawl scrotum Hernia Protruding tongue Poor eye contact Inguinal hernia Coarse facial features Abnormality of the foot Abnormality of the musculature Hepatosplenomegaly Long nose Respiratory tract infection Coarse hair Corneal opacity Tented upper lip vermilion Hydrocephalus Drooling Vacuolated lymphocytes Encephalopathy J-shaped sella turcica Ragged-red muscle fibers Specific learning disability Bilateral sensorineural hearing impairment Apraxia Pancytopenia Progressive neurologic deterioration Progressive muscle weakness Hypergonadotropic hypogonadism Exercise intolerance Oculomotor apraxia Hyperextensible skin Aciduria Failure to thrive in infancy Glomerulonephritis Exercise-induced myoglobinuria Ophthalmoparesis Generalized amyotrophy Recurrent myoglobinuria Myoglobinuria Tubular atrophy Scanning speech Glutaric aciduria Memory impairment Progressive cerebellar ataxia Fetal ascites Visual loss Muscle weakness Cataract Cognitive impairment Hyperreflexia Skeletal muscle atrophy Gait disturbance Fatigue Respiratory distress Cardiomyopathy Intellectual disability, mild Elevated serum creatine phosphokinase Muscle cramps Rod-cone dystrophy Respiratory failure Acidosis Hypertrophic cardiomyopathy Abnormal pyramidal sign Joint hyperflexibility Lactic acidosis Hepatic failure Metabolic acidosis Postural instability Tetraparesis Cortical dysplasia Hypsarrhythmia Retinopathy Dysmetria Minimal change glomerulonephritis Cryptorchidism Immunodeficiency Micropenis Hypoglycemia Abnormality of the nervous system Mental deterioration Developmental regression Focal-onset seizure Intrauterine growth retardation Epidermal acanthosis Hypertriglyceridemia Lymphopenia Hypocalcemia Recurrent bacterial infections Focal impaired awareness seizure Adrenal insufficiency Primary adrenal insufficiency Primary hypothyroidism Cerebellar hypoplasia Visual impairment Absent testis Thrombocytopenia Abnormality of the cerebral white matter Abnormality of the skin Aplasia/Hypoplasia of the cerebellum Progressive extrapyramidal movement disorder Mandibular prognathia Deeply set eye Peripheral demyelination Tremor Dysphagia Dementia Micrognathia Unsteady gait Falls Intention tremor Decreased nerve conduction velocity Postural tremor Action tremor Demyelinating peripheral neuropathy Normochromic anemia Abnormal glycosylation Mild proteinuria Congenital nephrotic syndrome Depressed nasal bridge Underdeveloped nasal alae Neonatal hypotonia Absent speech Clinodactyly Clinodactyly of the 5th finger Constipation Hyperactivity Cerebral cortical atrophy Autism Gastroesophageal reflux EEG abnormality Aggressive behavior Brachydactyly Postnatal growth retardation Autistic behavior Short philtrum Poor speech Thin vermilion border Single transverse palmar crease Generalized myoclonic seizures Urinary incontinence Round face Short nose Optic disc hypoplasia Wide nasal bridge Polyneuropathy Downslanted palpebral fissures Intellectual disability, severe Abnormality of the dentition Areflexia Agenesis of corpus callosum Abnormality of the eye Dolichocephaly Abnormality of eye movement Long face Palmoplantar keratoderma Diffuse palmoplantar keratoderma Depressed nasal ridge Progressive microcephaly Short chin Intellectual disability, progressive Poor head control Abnormality of vision Palmoplantar hyperkeratosis Abnormality of peripheral nerve conduction Abnormal corpus callosum morphology Perisylvian polymicrogyria Crescentic glomerulonephritis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Leukoencephalopathy, related diseases and genetic alterations Edema and Synophrys, related diseases and genetic alterations Cognitive impairment and Hydrocephalus, related diseases and genetic alterations Cleft palate and Primary amenorrhea, related diseases and genetic alterations Muscle weakness and Bradykinesia, related diseases and genetic alterations Seizures and Tetraparesis, related diseases and genetic alterations

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