Hepatomegaly, and Cerebral cortical atrophy

Diseases related with Hepatomegaly and Cerebral cortical atrophy

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


Top matches:

High match PYRIDOXINE-DEPENDENT EPILEPSY


Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

PYRIDOXINE-DEPENDENT EPILEPSY Is also known as antiquitin deficiency|vitamin b6-dependent seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about PYRIDOXINE-DEPENDENT EPILEPSY

Medium match ENCEPHALOPATHY DUE TO PROSAPOSIN DEFICIENCY


Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.

ENCEPHALOPATHY DUE TO PROSAPOSIN DEFICIENCY Is also known as prosaposin deficiency|combined sap deficiency|psapd|combined prosaposin deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY DUE TO PROSAPOSIN DEFICIENCY

Medium match METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1


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

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Other less relevant matches:

Medium match RFT1-CDG


RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

RFT1-CDG Is also known as congenital disorder of glycosylation type in|cdg1n|cdg-in|cdg syndrome type in|carbohydrate deficient glycoprotein syndrome type in|man5glcnac2-pp-dol flippase deficiency|cdgin|cdg in|congenital disorder of glycosylation type 1n

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RFT1-CDG

Medium match RETT SYNDROME


Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT SYNDROME

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Medium match AMISH INFANTILE EPILEPSY SYNDROME


Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

AMISH INFANTILE EPILEPSY SYNDROME Is also known as epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|gm3 synthase deficiency|salt and pepper mental retardation syndrome|amish infantile epilepsy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMISH INFANTILE EPILEPSY SYNDROME

Medium match PYRUVATE DEHYDROGENASE E3 DEFICIENCY


Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.

PYRUVATE DEHYDROGENASE E3 DEFICIENCY Is also known as e3-deficient maple syrup urine disease|nadh-cytochrome b5 reductase deficiency|dihydrolipoamide dehydrogenase deficiency|nadh-dependent methemoglobin reductase deficiency|methemoglobinemia, congenital, autosomal recessive|dld deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3 DEFICIENCY

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11


COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Medium match ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ


Related symptoms:

  • Short stature
  • Ataxia
  • Failure to thrive
  • Visual impairment
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Myoclonus Muscular hypotonia Microcephaly Behavioral abnormality Lethargy Hearing impairment Intellectual disability, severe Respiratory insufficiency Visual impairment Increased serum lactate Scoliosis Arthrogryposis multiplex congenita Spasticity Short stature Splenomegaly Vomiting Dystonia

Rare Symptoms - Less than 30% cases


Short neck Joint stiffness Acidosis Tetraplegia Abnormality of the nervous system Pallor Lactic acidosis Anorexia Tetraparesis Diarrhea Progressive neurologic deterioration Reduced visual acuity Abnormality of the foot Cerebral atrophy Coarse facial features Cerebellar atrophy Developmental regression Irritability Fasciculations Hepatosplenomegaly Absent speech Abnormality of movement Status epilepticus Optic atrophy Hypoplasia of the corpus callosum Hypertonia EEG abnormality Generalized tonic-clonic seizures Strabismus Nystagmus Anemia Cardiomyopathy Loss of consciousness Global brain atrophy Cerebral visual impairment Hypercoagulability Decreased plasma carnitine Generalized tonic seizures Hypoglycemia Hepatic encephalopathy Methemoglobinemia Abnormal cardiac ventricular function Athetoid cerebral palsy Hyperisoleucinemia Increased urine alpha-ketoglutarate concentration Hypertension Peripheral neuropathy Myopathy Renal insufficiency Gingival overgrowth Elevated plasma branched chain amino acids Neurodevelopmental delay Polycythemia Cyanosis Growth delay Developmental stagnation at onset of seizures Hyporeflexia of upper limbs Elevated hepatic transaminase Encephalopathy Severe global developmental delay Multifocal epileptiform discharges Hepatic failure Coma Muscle cramps Spastic tetraplegia Exertional dyspnea Intellectual disability, profound Involuntary movements Cerebral palsy Hyperammonemia Athetosis Opisthotonus Developmental stagnation Abnormal retinal morphology Lower limb hyperreflexia Hypermelanotic macule Headache Small for gestational age Hypoventilation Areflexia Blepharitis Decreased testicular size Abnormal blistering of the skin Inflammatory abnormality of the skin Chronic diarrhea Skin ulcer Conjunctivitis Psoriasiform dermatitis Emotional lability Steatorrhea Poor appetite Pustule Alopecia of scalp Abnormal eyebrow morphology Malabsorption Corneal erosion Furrowed tongue Ridged nail Cheilitis Impaired T cell function Decreased testosterone in males Glossitis Ridged fingernail Paronychia Decreased taste sensation Recurrent candida infections Low alkaline phosphatase Dry skin Hypotrichosis Hyporeflexia Chronic kidney disease Respiratory failure Neonatal hypotonia Hepatic steatosis Renal cyst Delayed myelination Epileptic encephalopathy Renal hypoplasia Pachygyria Renal dysplasia Decreased liver function Severe muscular hypotonia CNS hypomyelination Failure to thrive in infancy Nail dystrophy Hyponatremia Hyperkalemia Renal tubular acidosis Increased CSF lactate Breech presentation Tongue fasciculations Microvesicular hepatic steatosis Tremor Alopecia Hypogonadism Weight loss Photophobia Erythema Choreoathetosis Thickened calvaria Generalized-onset seizure Cognitive impairment Methylmalonic acidemia Hyperhomocystinemia Decreased methylcobalamin Megaloblastic bone marrow Decreased methionine synthase activity Decreased adenosylcobalamin Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Micrognathia Sensorineural hearing impairment Hyperreflexia Homocystinuria Muscular hypotonia of the trunk Abnormal bleeding Adducted thumb Abnormality of the coagulation cascade Mild short stature Abnormality of coagulation Inverted nipples Stroke-like episode Abnormal thrombosis Pes valgus Hyperintensity of cerebral white matter on MRI Enterocolitis Spastic ataxia Abnormal isoelectric focusing of serum transferrin Abnormality of the periventricular white matter Ventriculomegaly Abnormality of metabolism/homeostasis Neurological speech impairment Babinski sign Recurrent respiratory infections Respiratory tract infection Abnormality of the cerebral white matter Abnormality of eye movement Neuronal loss in central nervous system Peripheral demyelination Hyperkinesis Astrocytosis Methylmalonic aciduria CNS demyelination Abnormality of glycosphingolipid metabolism Generalized clonic seizures Gait disturbance Fatigue Respiratory distress Aciduria Dehydration Intracranial hemorrhage Megaloblastic anemia Increased mean corpuscular volume Abnormality of the posterior cranial fossa Bilateral basal ganglia lesions Macroglossia Ovoid thoracolumbar vertebrae Limb ataxia Recurrent upper respiratory tract infections Growth abnormality Coarse hair Restlessness Dysostosis multiplex Asymmetric septal hypertrophy Visceromegaly Heparan sulfate excretion in urine Central nervous system degeneration Thickened ribs Dense calvaria Sleep disturbance Abnormal facial shape Flexion contracture Blindness Midface retrusion Hernia Visual loss Mandibular prognathia Feeding difficulties in infancy Retinal degeneration Abnormality of skin pigmentation Inability to walk Split hand Hirsutism Muscle weakness Hemiplegia/hemiparesis Abnormality of the dentition Depressivity Arrhythmia Clinodactyly of the 5th finger Autism Macrotia Apraxia Stereotypy Arnold-Chiari malformation Abnormality of the metacarpal bones Self-injurious behavior Decreased muscle mass Synophrys Dysphasia Abnormality of the skull Acrocyanosis Abnormality of the antihelix Narrow foot Thin fingernail Delayed speech and language development Pneumonia Dementia Hyperactivity Corneal opacity Increased serum zinc



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