Cognitive impairment, and Nephritis

Diseases related with Cognitive impairment and Nephritis

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


Top matches:

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 HYPERPROLINEMIA TYPE 1


Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).

HYPERPROLINEMIA TYPE 1 Is also known as hpi|proline oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPROLINEMIA TYPE 1

Low match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME


CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Low match SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

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 LYSINURIC PROTEIN INTOLERANCE


Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

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 GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

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

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 Cognitive impairment and Nephritis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Nephritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Metabolic acidosis Ataxia Anemia Renal insufficiency Muscular hypotonia Failure to thrive Muscle weakness Proteinuria Nephropathy Glomerulonephritis Hepatic failure Hearing impairment Acidosis Neoplasm Cataract Hypoglycemia Hemolytic anemia Diarrhea Growth delay Abnormality of the coagulation cascade Aminoaciduria Osteoporosis Skeletal muscle atrophy Tubulointerstitial nephritis Dysarthria Leukopenia Muscular hypotonia of the trunk Vomiting Sensorineural hearing impairment Abnormal bleeding Hepatomegaly Lactic acidosis Feeding difficulties

Rare Symptoms - Less than 30% cases


Inflammatory abnormality of the skin Vasculitis Coma Cirrhosis Systemic lupus erythematosus Myoclonus Nausea and vomiting Recurrent respiratory infections Abnormality of coagulation Scoliosis Abnormal facial shape Osteopenia Recurrent infections Jaundice Gait disturbance Postural instability Nystagmus Myoglobinuria Ragged-red muscle fibers Exercise intolerance Hypertrophic cardiomyopathy Rod-cone dystrophy Visual loss Encephalopathy Cerebral atrophy Cerebellar atrophy Cardiomyopathy Hyperreflexia Spasticity Focal segmental glomerulosclerosis Increased serum lactate Glomerulosclerosis Elevated hepatic transaminase Food intolerance Neoplasm of the liver Failure to thrive in infancy Hypergonadotropic hypogonadism Decreased liver function Feeding difficulties in infancy Hypogonadism Microcephaly Glomerulopathy Pancreatitis Aciduria Memory impairment Hyperextensible skin Apraxia Developmental regression Epicanthus Hypertension Status epilepticus Severe muscular hypotonia EEG abnormality Behavioral abnormality Sparse hair Oculomotor apraxia Delayed speech and language development Hematuria Hyperechogenic kidneys Stage 5 chronic kidney disease Fatigue Arthritis Thrombocytopenia Gout Enlarged kidney Hepatocellular carcinoma Hepatocellular adenoma Protuberant abdomen Hypocitraturia Doll-like facies Renal tubular acidosis Hyperuricemia Prolonged bleeding time Decreased muscle mass Xanthomatosis Fasting hypoglycemia Breathing dysregulation Chronic hepatitis Lipemia retinalis Skeletal myopathy Enterocolitis Pyelonephritis Distal renal tubular acidosis Microalbuminuria Xanthelasma Intermittent diarrhea Decreased glomerular filtration rate Hepatoblastoma Chronic pancreatitis Hypoglycemic seizures Autoimmunity Frequent falls Myopathy Decreased fertility in females Retinal hemorrhage Hypergalactosemia Hyperchloremic metabolic acidosis Albuminuria Hyperkalemia Galactosuria Speech articulation difficulties Impairment of galactose metabolism Increased level of galactitol in plasma Increased level of galactitol in red blood cells Increased level of galactitol in urine Increased level of galactonate in red blood cells Carcinoma Portal hypertension Delayed puberty Truncal ataxia Full cheeks Hepatitis Epistaxis Hypertriglyceridemia Nephrolithiasis Nephrocalcinosis Hyperlipidemia Atherosclerosis Venous thrombosis Chronic kidney disease Elevated alkaline phosphatase Amblyopia Hypercalciuria Optic atrophy Choreoathetosis Cholestasis Blindness Hypertonia Depressivity Dementia Coarse facial features Retinopathy Small for gestational age Congenital cataract Sensory neuropathy Delayed myelination Pigmentary retinopathy Cardiomegaly Tetraparesis Hypertrichosis Hallucinations Crescentic glomerulonephritis Spastic tetraparesis Brittle hair Emotional lability Glycosuria Rhabdomyolysis Hyperphosphaturia Cholangitis Proximal tubulopathy Microvesicular hepatic steatosis Abnormality of the abdominal wall Histiocytoid cardiomyopathy Mitochondrial encephalopathy Persistent lactic acidosis Decreased mitochondrial complex III activity in liver tissue Peripheral neuropathy Rapid neurologic deterioration Motor delay Muscle cramps Dyskinesia Abnormality of the ovary Respiratory distress Falls Intellectual disability, mild Abnormality of eye movement Abnormality of the eye Elevated serum creatine phosphokinase Difficulty walking Respiratory failure Dystonia Abnormal pyramidal sign Stroke Joint hyperflexibility Progressive cerebellar ataxia Exercise-induced myoglobinuria Generalized amyotrophy Recurrent myoglobinuria Glutaric aciduria Steroid-resistant nephrotic syndrome Scanning speech Tubular atrophy Strabismus Ophthalmoparesis Specific learning disability Ptosis Progressive muscle weakness Progressive neurologic deterioration Pancytopenia Nephrotic syndrome Bilateral sensorineural hearing impairment Vitreous hemorrhage Loss of speech Speech apraxia Eczema Abnormality of the skeletal system Immunodeficiency Ectodermal dysplasia Hyporeflexia Gastroesophageal reflux Conductive hearing impairment Abnormality of the nervous system Respiratory tract infection Erythema Neutropenia Asthma Sensory impairment Lymphoma Bronchiectasis Dandy-Walker malformation Lymphopenia Narrow palpebral fissure Recurrent skin infections Combined immunodeficiency Atopic dermatitis Severe combined immunodeficiency Allergic rhinitis Membranoproliferative glomerulonephritis Vasculitis in the skin Autoimmune neutropenia Cortical myoclonus Craniosynostosis Abnormality of the kidney Prominent forehead Brachydactyly High palate Intellectual disability, severe Thyroiditis Abnormality of the skin Alopecia Psychosis Cutaneous photosensitivity Midface retrusion Purpura Posterior fossa cyst Scaphocephaly Rheumatoid arthritis Hypoplastic toenails Increased antibody level in blood Abnormality of the thyroid gland Autoimmune hemolytic anemia Pericarditis Autoimmune thrombocytopenia Cerebellar vermis hypoplasia Aseptic necrosis Epiphyseal stippling Hashimoto thyroiditis Gangrene Raynaud phenomenon Antinuclear antibody positivity Pleuritis Antiphospholipid antibody positivity Complement deficiency Malar rash Serositis Sparse eyebrow Trigonocephaly Sparse eyelashes Respiratory insufficiency Abnormality of the dentition Limb hypertonia Irritability Protein avoidance Ornithinuria Argininuria Asterixis Sleep disturbance Ichthyosis Visual impairment Tremor Aggressive behavior Edema Abnormality of metabolism/homeostasis Weight loss Hepatosplenomegaly Hyperactivity Abnormality of the liver Oroticaciduria Neurological speech impairment Lethargy Ascites Abdominal distention Sepsis Anorexia Camptocormia Hypogonadotrophic hypogonadism Shock Skin rash Abnormality of the voice Premature ovarian insufficiency Renal tubular dysfunction Edema of the lower limbs Pulmonary hemorrhage Alveolar proteinosis Ventricular septal defect Brain atrophy Splenomegaly Delayed skeletal maturation Downslanted palpebral fissures Depressed nasal bridge Low-set ears Malabsorption Micrognathia Nausea Hypertelorism Hyperprolinemia Prolinuria Recurrent fractures Hydroxyprolinuria Hyperglycinuria Motor deterioration Psychotic episodes Bruxism Fine hair Nephroblastoma Schizophrenia Cutis laxa Hyperammonemia Stereotypy Malnutrition Truncal obesity Hemiparesis Increased serum ferritin Hemophagocytosis Micronodular cirrhosis Hyperlysinuria Postterm pregnancy



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