Edema, and Cerebral cortical atrophy

Diseases related with Edema and Cerebral cortical atrophy

In the following list you will find some of the most common rare diseases related to Edema and Cerebral cortical atrophy that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Other less relevant matches:

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

Low match ALG1-CDG

ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Top 5 symptoms//phenotypes associated to Edema and Cerebral cortical atrophy

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cerebral atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Cerebral cortical atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Ataxia Failure to thrive Cerebellar atrophy Muscular hypotonia Microcephaly Acidosis Strabismus Hypertelorism Delayed speech and language development Dysphagia Cognitive impairment Dysarthria Skeletal muscle atrophy Pointed chin Optic atrophy Aggressive behavior Intellectual disability, severe

Rare Symptoms - Less than 30% cases

Spasticity Aciduria Dystonia Pachygyria Thin vermilion border Feeding difficulties Hepatomegaly Respiratory distress Hearing impairment Areflexia Sensorineural hearing impairment Athetosis Unsteady gait Gait ataxia Long philtrum Intellectual disability, mild Tremor Downslanted palpebral fissures Wide nose Hypogonadism Palpebral edema Peripheral neuropathy Large fontanelles Metabolic acidosis Retinal degeneration Nonimmune hydrops fetalis Pallor Retinal dystrophy Visual loss Encephalopathy Dehydration Neonatal hypotonia Protruding ear Ptosis Agitation Blindness Cardiomyopathy Hypertrophic cardiomyopathy Chorea Dementia Short stature Scoliosis Cataract Micrognathia Rigidity Wide nasal bridge Respiratory insufficiency Cerebellar hypoplasia Gait disturbance Myopathy Intrauterine growth retardation Anteverted nares Short columella Delayed cranial suture closure Echolalia Heterochromia iridis Mutism Trigonocephaly Drooling Spastic tetraparesis Hydroureter Dysphasia Aphasia Depressed nasal tip Progressive neurologic deterioration Choreoathetosis Horizontal nystagmus Long palpebral fissure Prominent metopic ridge Transient ischemic attack Hallucinations Lissencephaly Long nose Specific learning disability Abnormality of mitochondrial metabolism Progressive choreoathetosis Coarse facial features Retrognathia Short neck Optic nerve coloboma Telecanthus Epicanthus Joint stiffness Wide mouth Polymicrogyria Iris coloboma Growth delay Persistent lactic acidosis Low posterior hairline Abnormal mitochondrial morphology Highly arched eyebrow Loss of ability to walk Gastrointestinal dysmotility Diffuse cerebral atrophy Mitochondrial myopathy Microcornea Full cheeks Restlessness Prominent nose Webbed neck Skeletal dysplasia Hydronephrosis Abnormality of coagulation Abnormality of the upper urinary tract Cholelithiasis Sensory neuropathy Brain atrophy Premature birth Mitral valve prolapse Decreased fetal movement Atrial fibrillation Progressive muscle weakness Hydrops fetalis Insulin resistance Cardiac arrest Spontaneous abortion Intellectual disability, progressive Ventricular tachycardia Atrioventricular block Myotonia Lower limb muscle weakness Testicular atrophy Percussion myotonia Obsessive-compulsive trait Narcolepsy Excessive daytime sleepiness Frontal balding First degree atrioventricular block Atrial flutter Alzheimer disease Facial diplegia Heart block Abnormal EKG Neurofibrillary tangles Centrally nucleated skeletal muscle fibers Thin ribs Tachycardia Talipes Subcortical cerebral atrophy Hypertension Ascites Nephropathy Hepatic failure Hepatosplenomegaly Jaundice Splenomegaly Flexion contracture Portal hypertension Euryblepharon Osteochondrosis Cerebral cortical hemiatrophy Retinoschisis Duplication of thumb phalanx Macrogyria Nephrotic syndrome Spastic tetraplegia Muscular dystrophy Arrhythmia Stroke Feeding difficulties in infancy Mental deterioration Myalgia Polyhydramnios Respiratory failure Dilatation Abnormality of immune system physiology Motor delay Pain Muscle weakness Budd-Chiari syndrome Abnormality of the amniotic fluid Type I transferrin isoform profile Tetraparesis Vomiting Tetraplegia Muscular hypotonia of the trunk Lymphedema Cone/cone-rod dystrophy Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Cortical gyral simplification Biparietal narrowing Abnormal eyelash morphology Vitreoretinopathy Retinal fold Chorioretinal dysplasia Hypoplasia of the corpus callosum Hyporeflexia Agenesis of corpus callosum Abnormality of the eye Optic disc pallor Apnea Severe global developmental delay Abnormality of eye movement Generalized-onset seizure Progressive microcephaly Bradycardia Increased body weight Progressive hearing impairment Hyperglycemia Muscle fibrillation Poor eye contact Central apnea Demyelinating peripheral neuropathy Abnormality of retinal pigmentation Sloping forehead Abnormal facial shape Supranuclear gaze palsy Congestive heart failure Babinski sign Neuronal loss in central nervous system Stereotypy Respiratory insufficiency due to muscle weakness Apathy Personality changes Emotional lability Amyotrophic lateral sclerosis Global brain atrophy Insomnia Frontotemporal dementia Abnormal lower motor neuron morphology Pulmonary edema Pigmentary retinopathy Disinhibition Primitive reflex Perseveration Bulimia Semantic dementia Visual impairment Hyperreflexia Hypertonia Microphthalmia Glaucoma Retinopathy Abnormality of skin pigmentation Retinal detachment Vegetative state Low-set ears Neurodegeneration Methylmalonic acidemia Anemia Fatigue Behavioral abnormality Abnormality of the nervous system Lethargy Anorexia Intracranial hemorrhage Megaloblastic anemia Increased mean corpuscular volume Methylmalonic aciduria Spastic ataxia Homocystinuria Enterocolitis Hyperhomocystinemia Hypoplastic hippocampus Decreased methylcobalamin Megaloblastic bone marrow Decreased methionine synthase activity Decreased adenosylcobalamin Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Absent speech Myoclonus Hypoglycemia Developmental regression Neurological speech impairment Abnormality of movement Lactic acidosis Segmental myoclonic seizures Hippocampal atrophy High palate Generalized myoclonic seizures Macrocephaly Constipation Hyperactivity Narrow mouth Gastroesophageal reflux Deeply set eye Autistic behavior Abnormal pyramidal sign Broad forehead Dysmetria Long face Bulbous nose Broad nasal tip Memory impairment Short ear Intention tremor Thick lower lip vermilion Depressed nasal ridge Infantile muscular hypotonia Brisk reflexes Large forehead Abnormal cortical gyration Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Ring fibers


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