Cognitive impairment, and Proteinuria

Diseases related with Cognitive impairment and Proteinuria

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


Top matches:

Low match DENT DISEASE TYPE 2


Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.

DENT DISEASE TYPE 2 Is also known as nephrolithiasis type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Cognitive impairment
  • Intellectual disability, mild


SOURCES: ORPHANET OMIM MENDELIAN

More info about DENT DISEASE TYPE 2

Low match HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME


High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME

Low match MEGALOBLASTIC ANEMIA 1


Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.

MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|mga1|enterocyte intrinsic factor receptor, defect of|enterocyte cobalamin malabsorption|igs|imerslund-grasbeck syndrome

Related symptoms:

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALOBLASTIC ANEMIA 1

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Other less relevant matches:

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

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 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 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Low match NEPHROPATHIC INFANTILE CYSTINOSIS


Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Constipation


SOURCES: ORPHANET MENDELIAN

More info about NEPHROPATHIC INFANTILE CYSTINOSIS

Low match HYPERINSULINISM DUE TO HNF4A DEFICIENCY


Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term).

HYPERINSULINISM DUE TO HNF4A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf4a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF4A DEFICIENCY

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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Proteinuria

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Nephropathy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hematuria Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Short stature

Rare Symptoms - Less than 30% cases


Coma Elevated serum creatinine Dementia Growth delay Hypertension Abnormality of the kidney Focal segmental glomerulosclerosis Renal Fanconi syndrome Diarrhea Tremor Renal insufficiency Thrombocytopenia Glycosuria Hemiparesis Vomiting Stage 5 chronic kidney disease Nephritis Acidosis Low-molecular-weight proteinuria Chronic kidney disease Peripheral neuropathy Hearing impairment Aminoaciduria Pigmentary retinopathy Dehydration Hypokalemia Polydipsia Rickets Hypophosphatemia Hernia Renal tubular dysfunction Hyperphosphaturia Abnormal cornea morphology Corneal crystals Intellectual disability, mild Tubulointerstitial abnormality Hyperchloremic metabolic acidosis Abnormality of thyroid physiology Abnormality of ion homeostasis Abnormality of vitamin D metabolism Abnormality of the cerebral white matter Constipation Photophobia Microangiopathic hemolytic anemia Dysphasia Abnormality of blood and blood-forming tissues Acute kidney injury Reticulocytosis Enterocolitis Hemolytic-uremic syndrome Complement deficiency Increased blood urea nitrogen Anuria Azotemia Elevated serum creatine phosphokinase Abnormal lactate dehydrogenase activity Schistocytosis Decreased serum complement C3 Decreased serum complement factor B Abnormality of complement system Decreased serum complement factor I Decreased serum complement factor H Decreased level of thrombomodulin Failure to thrive Hepatomegaly Vertigo Fatigue Sparse hair Low-set ears Depressed nasal bridge Epicanthus Downslanted palpebral fissures Ventricular septal defect Abnormality of the dentition Prominent forehead Craniosynostosis Ectodermal dysplasia Hypertelorism Dandy-Walker malformation Cerebellar vermis hypoplasia Sparse eyelashes Trigonocephaly Sparse eyebrow Hypoplastic toenails Scaphocephaly Tubulointerstitial nephritis Micrognathia Metabolic ketoacidosis Hyperhidrosis Hyperinsulinemia Hyperlipidemia Elevated hepatic transaminase Pallor Lethargy Tachycardia Progressive neurologic deterioration Increased body weight Elevated alkaline phosphatase Large for gestational age Increased hepatic glycogen content Agitation Drowsiness Neonatal hypoglycemia Hyperinsulinemic hypoglycemia Hypoketotic hypoglycemia Hypophosphatemic rickets Fasting hypoglycemia Pancreatic islet-cell hyperplasia Abnormality of fatty-acid metabolism Neonatal hypotonia Hemolytic anemia Purpura Gout Sensorineural hearing impairment Postnatal growth retardation Nystagmus Neutropenia Renal cyst Bifid uvula Preaxial polydactyly Hyperuricemia Velopharyngeal insufficiency Recurrent infections Proximal tubulopathy Ataxia Dysarthria Renal tubular acidosis Dysphagia Cerebellar atrophy Hypercalciuria Myoclonus Polydactyly Dilatation Unsteady gait Paresthesia High myopia Profound hearing impairment Albuminuria Conductive hearing impairment Rod-cone dystrophy Paralysis Autoimmunity Malabsorption Confusion Intrauterine growth retardation Sensory impairment Thyroiditis Megaloblastic anemia Poikiloderma Vitamin B12 deficiency Malabsorption of Vitamin B12 Myopia Cleft palate Gait ataxia Falls Hypertriglyceridemia Hyperglycinuria Nephrocalcinosis Stereotypy Severe muscular hypotonia Schizophrenia Metabolic acidosis Nephroblastoma Bruxism Motor deterioration Hydroxyprolinuria Sleep disturbance Prolinuria Hyperprolinemia Fever Cardiomyopathy Edema Umbilical hernia Abnormality of metabolism/homeostasis Bilateral sensorineural hearing impairment Status epilepticus Ichthyosis Generalized-onset seizure Demyelinating peripheral neuropathy Nephrotic syndrome Intention tremor Decreased nerve conduction velocity Hypoalbuminemia Glomerulosclerosis Postural tremor Glomerulopathy Action tremor Normochromic anemia Aggressive behavior Abnormal glycosylation Mild proteinuria Generalized hypotonia Neoplasm Muscular hypotonia Delayed speech and language development Behavioral abnormality Hyperactivity EEG abnormality Posterior fossa cyst



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