Intellectual disability, severe, and Renal insufficiency

Diseases related with Intellectual disability, severe and Renal insufficiency

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Renal insufficiency that can help you solving undiagnosed cases.

Top matches:

Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 6; JBTS6

Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

TRANSCOBALAMIN DEFICIENCY Is also known as transcobalamin ii deficiency|inherited deficiency of transcobalamin|tc ii deficiency|tcn2 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSCOBALAMIN DEFICIENCY

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Other less relevant matches:

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

High match REFSUM DISEASE

Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

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

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Renal insufficiency

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Renal insufficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Hepatomegaly Seizures Anteverted nares Failure to thrive Anemia Nystagmus Visual impairment Splenomegaly Ptosis Low-set ears Cataract Hypertelorism Abnormal facial shape Sensorineural hearing impairment Macrocephaly Abnormality of the liver Growth delay Proteinuria Thrombocytopenia Vomiting Wide mouth Strabismus Chorioretinal coloboma Coloboma Hepatic fibrosis Cerebellar vermis hypoplasia Nephronophthisis Intellectual disability, moderate Molar tooth sign on MRI Abnormality of the eye Abnormality of eye movement

Rare Symptoms - Less than 30% cases

Apnea Prominent nasal bridge Long face Iris coloboma Retinal dystrophy Malar flattening Muscle weakness Downslanted palpebral fissures Myopia Hydrocephalus Hearing impairment Nephropathy Highly arched eyebrow Renal cyst Postaxial hand polydactyly Encephalocele Multicystic kidney dysplasia Aplasia/Hypoplasia of the corpus callosum Glomerulopathy Oculomotor apraxia Scoliosis Elevated hepatic transaminase Cirrhosis Jaundice Motor delay Spasticity Hyperreflexia Cerebellar hypoplasia Hepatosplenomegaly Blindness Microphthalmia Short stature Cardiomyopathy Respiratory insufficiency Skeletal muscle atrophy Pachygyria Apraxia Micropenis Micrognathia Hyperammonemia Microcephaly Abnormality of neuronal migration Abnormality of the kidney Tachypnea Metabolic acidosis Abnormality of the hypothalamus-pituitary axis Pancytopenia Multiple small medullary renal cysts Leukopenia Acidosis Diarrhea Abnormal bleeding Congenital hepatic fibrosis Aplasia/Hypoplasia of the cerebellar vermis Increased serum lactate Biparietal narrowing Abnormality of the nervous system Aciduria Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Gastrointestinal hemorrhage Intestinal malrotation Cholestasis Round face Cerebral cortical atrophy Feeding difficulties in infancy Oral cleft Skin rash Chronic hepatic failure Corneal opacity Generalized tonic-clonic seizures Congenital cataract Abnormality of movement Polymicrogyria Tetraplegia Gliosis Neuronal loss in central nervous system Optic nerve coloboma Fever Long philtrum Psychotic episodes Hyperextensible skin Systemic lupus erythematosus Glomerulonephritis Abnormality of the coagulation cascade Occipital encephalocele Malnutrition Truncal obesity Increased serum ferritin Hemophagocytosis Micronodular cirrhosis Hyperlysinuria Alveolar proteinosis Hypertonia Oroticaciduria Pulmonary hemorrhage Protein avoidance Ornithinuria Argininuria Asterixis Portal hypertension Chronic kidney disease High palate Abnormality of abdomen morphology Sloping forehead Ventriculomegaly Cerebral calcification Postnatal microcephaly Intellectual disability, profound Tubular atrophy Severe global developmental delay Tubulointerstitial fibrosis Dilated fourth ventricle Neoplasm of the liver Abnormal pattern of respiration Esophageal varix Agenesis of cerebellar vermis Hepatic steatosis Cholestatic liver disease Pancreatitis Undetectable electroretinogram Postaxial foot polydactyly Renal corticomedullary cysts Foot polydactyly Severe vision loss Heterotopia Aganglionic megacolon Intellectual disability, progressive Polycystic kidney dysplasia Hand polydactyly Polydipsia Hypoplasia of the brainstem Polyuria Congenital blindness Autistic behavior Aplasia/Hypoplasia of the cerebellum Status epilepticus Petechiae Tetraparesis Polydactyly Decreased liver function Agenesis of corpus callosum Cerebral visual impairment Opacification of the corneal stroma Microretrognathia Inguinal hernia Purpura Spastic tetraparesis Lissencephaly Dilatation Low-set, posteriorly rotated ears Increased CSF protein Frontal bossing Gait disturbance Tremor Hypertension Renal sodium wasting Congenital microcephaly Brainstem dysplasia Occipital meningocele Behavioral abnormality Abnormality of cardiovascular system morphology Dyspnea Cutis laxa Retinopathy Aminoaciduria Dysgraphia Dysarthria Respiratory distress Congestive heart failure Encephalopathy Pneumonia Hypoglycemia Lactic acidosis Leukodystrophy Clonus CNS hypomyelination Athetosis Renal tubular acidosis Ketoacidosis Periventricular leukomalacia Hyperalaninemia Vitamin B12 deficiency Increased serum pyruvate Cystinuria Proximal renal tubular acidosis Increased head circumference Necrotizing encephalopathy Periventricular cysts Chronic metabolic acidosis Congenital lactic acidosis Neuronal loss in the cerebral cortex Depressed nasal bridge Midface retrusion Patent ductus arteriosus Thin vermilion border Thick vermilion border Agranulocytosis Megaloblastic bone marrow Tapered finger Neutropenia Retinal degeneration Severe muscular hypotonia Abnormal retinal morphology Breathing dysregulation Bile duct proliferation Hyperechogenic kidneys Elongated superior cerebellar peduncle Enlarged fossa interpeduncularis Thickened superior cerebellar peduncle Immunodeficiency Recurrent infections Irritability Respiratory tract infection Lethargy Decreased antibody level in blood Congenital neutropenia Lymphopenia Macrocytic anemia IgA deficiency Acute kidney injury IgG deficiency Abnormality of the mouth Agammaglobulinemia Megaloblastic anemia Methylmalonic aciduria Stomatitis IgM deficiency Abnormality of chromosome stability Reticulocytopenia Granulocytopenia Hematuria Abnormality of the metaphysis Fine hair Hemiplegia/hemiparesis Developmental regression Nyctalopia Abnormal pyramidal sign Abnormality of the foot Dry skin Ichthyosis Short metacarpal Nail dysplasia Progressive visual loss Abnormality of epiphysis morphology Abnormality of retinal pigmentation Anosmia Abnormality of vision Hammertoe Heart block Pes cavus Miosis Cognitive impairment Feeding difficulties Delayed skeletal maturation Osteoporosis Osteopenia Sparse hair Malabsorption Nausea and vomiting Nausea Coma Recurrent fractures Postural instability Brain atrophy Skeletal dysplasia Abnormality of metabolism/homeostasis Abnormality of the hair Telecanthus Nephritis Increased number of teeth Microscopic hematuria Abnormal aortic valve morphology Elliptocytosis Craniopharyngioma Erythrocyte cylindruria Cryptorchidism Epicanthus Wide nasal bridge Abnormality of the dentition Hernia Hypothyroidism Umbilical hernia Blepharophimosis Peripheral neuropathy Abnormal dermatoglyphics Chordee Aplasia/Hypoplasia of the nipples Hypoplastic nipples Telangiectasia of the skin Congenital sensorineural hearing impairment Bifid scrotum Telangiectasia Everted lower lip vermilion Renal dysplasia Thick lower lip vermilion Renal hypoplasia Hypoplasia of penis Wide intermamillary distance Dental malocclusion Intrahepatic biliary atresia


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