Ataxia, and Glomerulonephritis

Diseases related with Ataxia and Glomerulonephritis

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


Top matches:

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 PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

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

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E


Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also been associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E Is also known as cmtdie|charcot-marie-tooth disease-nephropathy syndrome|charcot-marie-tooth neuropathy with focal segmental glomerulonephritis

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E

Low match PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME


PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

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 HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS


Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

Low match GALACTOSEMIA


Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).

GALACTOSEMIA Is also known as galactose-1-phosphate uridylyltransferase deficiency|galt deficiency|galactosemia, classic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSEMIA

Low match ISOLATED COMPLEX III DEFICIENCY


Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

Top 5 symptoms//phenotypes associated to Ataxia and Glomerulonephritis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Nephritis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment 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 Glomerulonephritis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Seizures Renal insufficiency Cognitive impairment Cataract Proteinuria Failure to thrive Stage 5 chronic kidney disease Dysarthria Short stature Muscle weakness Spasticity Visual loss Nystagmus Scoliosis Microcephaly Hepatic failure Nephropathy Metabolic acidosis Rod-cone dystrophy Vomiting Anemia Skeletal muscle atrophy Muscular hypotonia of the trunk Abnormality of the skeletal system Focal segmental glomerulosclerosis Glomerulosclerosis Growth delay Tubulointerstitial nephritis Cerebral atrophy Abnormal facial shape Cerebellar atrophy Feeding difficulties Visual impairment

Rare Symptoms - Less than 30% cases


Premature ovarian insufficiency Apraxia Sensory neuropathy Ascites Lactic acidosis Frequent falls Food intolerance Developmental regression Hypertrophic cardiomyopathy Abnormality of the coagulation cascade Hypogonadism Epicanthus Hypogonadotrophic hypogonadism Hyperechogenic kidneys Encephalopathy Acidosis Exercise intolerance Hypergonadotropic hypogonadism Feeding difficulties in infancy Muscular hypotonia Nausea and vomiting Abdominal pain Strabismus Coarse facial features Cardiomyopathy EEG abnormality Falls Hypoglycemia Diarrhea Oculomotor apraxia Hepatomegaly Peripheral neuropathy Decreased liver function Myoglobinuria Glomerulopathy Aminoaciduria Failure to thrive in infancy Hypertension Ragged-red muscle fibers Neoplasm Pain Myoclonus Delayed speech and language development Weight loss Lymphoma Sensory impairment Arachnodactyly Blindness Vasculitis Retinopathy Hemolytic anemia Brachydactyly Nephrotic syndrome Fatigue Hyporeflexia High palate Micrognathia Motor delay Hyperreflexia Hypertelorism Gait disturbance Myalgia Autoimmunity Odontogenic keratocysts of the jaw Ovarian fibroma Arthralgia Bifid ribs Arthritis Cardiac rhabdomyoma Incoordination Skin rash Short distal phalanx of the thumb Reduced tendon reflexes Cerebral palsy Cranial nerve paralysis Joint dislocation Conjunctivitis Recurrent bacterial infections Meningitis Palmar pits Cough Hematuria Orbital cyst Lymphadenopathy Dyspnea Histiocytoma Pruritus Curved fingers Calcification of falx cerebri Azotemia Splenomegaly Retinal dystrophy Polyuria Nyctalopia Hypermetropia Retinal degeneration Cone-shaped epiphysis Nausea Renal cyst Nephronophthisis Progressive visual loss Involuntary movements Polydipsia Renal dysplasia Abnormality of retinal pigmentation Hepatic fibrosis Diabetes insipidus High hypermetropia Plantar pits Abnormality of bone mineral density Bridged sella turcica Exudative retinopathy Multiple small medullary renal cysts Cardiac fibroma Irregular ossification of hand bones Hamartomatous stomach polyps Tapetoretinal degeneration Congenital blindness Photophobia Abnormality of the kidney Congenital hepatic fibrosis Retinal dysplasia Peripheral visual field loss Scarring Severe sensorineural hearing impairment Chronic kidney disease Sepsis Urticaria Hypertonia Delayed myelination Coma Congenital cataract Small for gestational age Elevated hepatic transaminase Dementia Depressivity Increased level of galactonate in red blood cells Pigmentary retinopathy Increased level of galactitol in urine Increased level of galactitol in red blood cells Increased level of galactitol in plasma Impairment of galactose metabolism Speech articulation difficulties Galactosuria Albuminuria Hyperchloremic metabolic acidosis Increased serum lactate Cardiomegaly Retinal hemorrhage Hyperphosphaturia Decreased mitochondrial complex III activity in liver tissue Persistent lactic acidosis Mitochondrial encephalopathy Histiocytoid cardiomyopathy Abnormality of the abdominal wall Microvesicular hepatic steatosis Proximal tubulopathy Cholangitis Rhabdomyolysis Tetraparesis Glycosuria Emotional lability Brittle hair Spastic tetraparesis Severe muscular hypotonia Hallucinations Cholestasis Hypertrichosis Hypergalactosemia Decreased fertility in females Pleural effusion Angioedema Edema Tremor Small vessel vasculitis Obstructive lung disease Episcleritis Immunologic hypersensitivity Complement deficiency Inflammatory abnormality of the eye Abnormality of metabolism/homeostasis Uveitis Irregular hyperpigmentation Hemoptysis Abnormal heart valve morphology Pericardial effusion Restrictive ventilatory defect Emphysema Hemiplegia/hemiparesis Behavioral abnormality Osteoporosis Vitreous hemorrhage Anorexia Abnormality of the ovary Speech apraxia Neoplasm of the liver Edema of the lower limbs Renal tubular dysfunction Abnormality of coagulation Abnormality of the voice Shock Abnormal bleeding Jaundice Multiple impacted teeth Abdominal distention Cirrhosis Lethargy Neurological speech impairment Abnormality of the liver Irritability Hepatosplenomegaly Severe hydrocephalus Bradycardia Ovarian carcinoma Ophthalmoparesis Exercise-induced myoglobinuria Recurrent myoglobinuria Glutaric aciduria Steroid-resistant nephrotic syndrome Scanning speech Tubular atrophy Generalized amyotrophy Hyperextensible skin Crescentic glomerulonephritis Progressive muscle weakness Progressive neurologic deterioration Status epilepticus Pancytopenia Bilateral sensorineural hearing impairment Specific learning disability Memory impairment Aciduria Rapid neurologic deterioration Fever Muscle cramps Onion bulb formation Abnormality of the eye Difficulty walking Dystonia Ptosis Distal upper limb amyotrophy Mild proteinuria Distal lower limb amyotrophy Axonal loss Areflexia Steppage gait Hammertoe Foot dorsiflexor weakness Split hand Distal sensory impairment Distal amyotrophy Distal muscle weakness Pes cavus Progressive cerebellar ataxia Postural instability Dyskinesia Recurrent respiratory infections Asthma Neutropenia Erythema Respiratory tract infection Abnormality of the nervous system Conductive hearing impairment Gastroesophageal reflux Recurrent infections Inflammatory abnormality of the skin Immunodeficiency Minimal change glomerulonephritis Narrow forehead Esotropia Polymicrogyria Dysmetria Cerebellar hypoplasia Intrauterine growth retardation Eczema Bronchiectasis Joint hyperflexibility Autoimmune neutropenia Stroke Abnormal pyramidal sign Respiratory failure Elevated serum creatine phosphokinase Intellectual disability, mild Respiratory distress Optic atrophy Cortical myoclonus Vasculitis in the skin Lymphopenia Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Combined immunodeficiency Recurrent skin infections Leukopenia Narrow palpebral fissure Abnormality of eye movement Choreoathetosis Parietal bossing Inflammation of the large intestine Colitis Vertebral fusion Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Disproportionate tall stature Melanocytic nevus Thoracic scoliosis Relative macrocephaly Neoplasm of the skin Spina bifida occulta Hemivertebrae Muscle stiffness Short ribs Spina bifida Hyperpigmentation of the skin Abnormality of the sternum Sprengel anomaly Hemiparesis Astrocytoma Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Brain neoplasm Narrow nose Ulcerative colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Down-sloping shoulders Fragile nails Exotropia Abnormality of the ribs Amblyopia Downslanted palpebral fissures Brachycephaly Pectus excavatum Microphthalmia Syndactyly Abnormality of the dentition Hydrocephalus Frontal bossing Macrocephaly Polydactyly Wide nasal bridge Cryptorchidism Cleft palate Camptocormia Loss of speech Limb hypertonia Hyperkalemia Truncal ataxia Glaucoma Proptosis Cerebral calcification Hypotrichosis Hypotension Nevus Palmoplantar keratoderma Postaxial polydactyly Iris coloboma Oral cleft Cleft upper lip Carious teeth Papule Mandibular prognathia Coloboma Sparse hair Facial palsy Cleft lip Telecanthus Carcinoma Retrognathia Kyphoscoliosis Postterm pregnancy



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