Cognitive impairment, and Stage 5 chronic kidney disease

Diseases related with Cognitive impairment and Stage 5 chronic kidney disease

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Stage 5 chronic kidney disease that can help you solving undiagnosed cases.


Top matches:

Medium match BARDET-BIEDL SYNDROME 18; BBS18


BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Visual impairment
  • Brachydactyly
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 18; BBS18

Medium 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

Medium 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

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Other less relevant matches:

Medium match BARDET-BIEDL SYNDROME 16; BBS16


BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 16; BBS16

Medium 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

Medium match BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

Medium match PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS


Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see {300009}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS

Medium match JOUBERT SYNDROME 3; JBTS3


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 3; JBTS3

Medium 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

Medium 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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Stage 5 chronic kidney disease

Symptoms // Phenotype % cases
Renal insufficiency Very Common - Between 80% and 100% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Stage 5 chronic kidney disease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Proteinuria Anemia Focal segmental glomerulosclerosis Glomerulosclerosis Thrombocytopenia Short stature Hypogonadism Polydactyly Nephropathy Muscular hypotonia Obesity Rod-cone dystrophy Ptosis

Rare Symptoms - Less than 30% cases


Diarrhea Recurrent fractures Aminoaciduria Aciduria Nephrotic syndrome Hypoalbuminemia Glomerulopathy Hearing impairment Micropenis Hematuria Hypertriglyceridemia Abnormality of the liver Coma Retinal degeneration Renal cyst Renal dysplasia External genital hypoplasia Edema Cataract Peripheral neuropathy Apraxia Falls Strabismus Truncal ataxia Oculomotor apraxia Developmental regression Retinal dystrophy Brachydactyly Muscle weakness Visual impairment Hypertension Difficulty walking Hypothyroidism Episodic tachypnea Delayed ability to walk Epidermal acanthosis Retinal coloboma Focal-onset seizure Central apnea Ichthyosis Retinopathy Neonatal breathing dysregulation Elongated superior cerebellar peduncle Immunodeficiency Mental deterioration Abnormality of the nervous system Enlarged fossa interpeduncularis Hypoglycemia Microcephaly Sensorineural hearing impairment Cryptorchidism Nephronophthisis Cerebellar vermis hypoplasia Molar tooth sign on MRI Nystagmus Renal phosphate wasting Enlarged epiphyses Enlargement of the wrists Low-molecular-weight proteinuria Bulging epiphyses Sparse bone trabeculae Enlargement of the ankles Hyperuricosuria Increased serum 1,25-dihydroxyvitamin D3 Renal hypophosphatemia Non-acidotic proximal tubulopathy Spasticity Abnormal electroretinogram Low-set ears Epicanthus Wide nasal bridge Anteverted nares Kyphoscoliosis Coloboma Polymicrogyria Highly arched eyebrow Pigmentary retinopathy Hypocalcemia Open mouth Lymphopenia Primary hypothyroidism Recurrent bacterial infections Malnutrition Brain atrophy Increased serum lactate Fine hair Pancreatitis Leukopenia Cutis laxa Hyperammonemia Hyperextensible skin Systemic lupus erythematosus Glomerulonephritis Abnormality of the coagulation cascade Truncal obesity Postural instability Increased serum ferritin Hemophagocytosis Micronodular cirrhosis Hyperlysinuria Psychotic episodes Alveolar proteinosis Oroticaciduria Pulmonary hemorrhage Protein avoidance Ornithinuria Argininuria Abnormal bleeding Metabolic acidosis Focal impaired awareness seizure Respiratory insufficiency Adrenal insufficiency Primary adrenal insufficiency Proximal tubulopathy Diffuse mesangial sclerosis Steroid-resistant nephrotic syndrome Congenital nephrotic syndrome Absent testis Failure to thrive Feeding difficulties Hepatomegaly Skeletal muscle atrophy Intellectual disability, severe Cirrhosis Vomiting Splenomegaly Delayed skeletal maturation Osteoporosis Acidosis Osteopenia Jaundice Sparse hair Malabsorption Nausea and vomiting Nausea Tubulointerstitial fibrosis Microscopic hematuria Thin bony cortex Bronchiolitis Choreoathetosis Conductive hearing impairment Respiratory tract infection Dyskinesia Hepatic steatosis Asthma Renal agenesis Recurrent otitis media Abnormality of eye movement Tricuspid regurgitation Fever Recurrent respiratory infections Cardiomyopathy Abnormality of the eye Muscular hypotonia of the trunk Abnormality of metabolism/homeostasis Hemolytic anemia Dystonia Hemiparesis Purpura Hyperlipidemia Dysphasia Frequent falls Respiratory distress Acute kidney injury Tubulointerstitial nephritis Tremor Dysphagia Cerebellar atrophy Camptocormia Dementia Myoclonus Gait ataxia Hyperechogenic kidneys Unsteady gait Generalized-onset seizure Intention tremor Amblyopia Decreased nerve conduction velocity Loss of speech Limb hypertonia Postural tremor Hyperkalemia Nephritis Action tremor Demyelinating peripheral neuropathy Normochromic anemia Abnormal glycosylation Mild proteinuria Abnormality of blood and blood-forming tissues Reticulocytosis Hyperphosphaturia Hypercalciuria Y-shaped metacarpals Pain Intellectual disability, mild Elevated serum creatine phosphokinase Abdominal pain Abnormality of the kidney Nephrolithiasis Bone pain Nephrocalcinosis Chronic kidney disease Rickets Bilateral postaxial polydactyly Metaphyseal irregularity Bowing of the legs Hypophosphatemia Glycosuria Osteomalacia Dysarthria Delayed epiphyseal ossification Mild global developmental delay Tubular atrophy Abnormality of the lower limb Mesoaxial polydactyly Hyposmia Elevated serum creatinine Decreased serum complement factor B Enterocolitis Hemolytic-uremic syndrome Complement deficiency Increased blood urea nitrogen Anuria Microangiopathic hemolytic anemia Azotemia Abnormal lactate dehydrogenase activity Schistocytosis Decreased serum complement C3 Abnormality of complement system Undetectable electroretinogram Decreased serum complement factor I Decreased serum complement factor H Decreased level of thrombomodulin Postaxial polydactyly Situs inversus totalis Cone/cone-rod dystrophy Anosmia Polydipsia Polyuria Foot polydactyly Postaxial foot polydactyly Asterixis



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