Hepatomegaly, and Progressive neurologic deterioration

Diseases related with Hepatomegaly and Progressive neurologic deterioration

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

Top matches:

HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.

HYPERINSULINISM DUE TO HNF1A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf1a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF1A DEFICIENCY

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Other less relevant matches:

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as dominant katp hyperinsulinism due to kir6.2 deficiency|autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY

Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

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

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression (Spinazzola et al., 2008).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

NAVAJO NEUROHEPATOPATHY Is also known as nnh|navajo neurohepatopathy|nn|navajo neuropathy

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NAVAJO NEUROHEPATOPATHY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Progressive neurologic deterioration

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Hyperinsulinemia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Progressive neurologic deterioration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of fatty-acid metabolism Pancreatic islet-cell hyperplasia Hypoketotic hypoglycemia Hyperinsulinemic hypoglycemia Neonatal hypoglycemia Drowsiness Large for gestational age Agitation Coma Tachycardia Lethargy Pallor Hyperhidrosis Cognitive impairment Spasticity Respiratory failure Developmental regression Ataxia Hyperreflexia Dystonia Vitamin B1 deficiency Increased body weight Elevated hepatic transaminase Tremor Intellectual disability Secondary growth hormone deficiency

Rare Symptoms - Less than 30% cases

Loss of speech Prolonged neonatal jaundice Mental deterioration Hepatic steatosis Respiratory insufficiency Cirrhosis Generalized hypotonia Failure to thrive Hepatosplenomegaly Splenomegaly Dysphagia Cerebral atrophy Edema Abnormality of the cerebral white matter Abnormal brain FDG positron emission tomography Decreased circulating cortisol level Fasting hypoglycemia Neonatal hypotonia Fatigue Microcephaly Respiratory tract infection Lipodystrophy Endometriosis Reye syndrome-like episodes Progressive psychomotor deterioration Encephalopathy Generalized lipodystrophy Progressive encephalopathy Limb dystonia Myoclonus Reduced subcutaneous adipose tissue Brisk reflexes Acanthosis nigricans Abnormal pyramidal sign Generalized hirsutism Insulin resistance Hypertriglyceridemia Caudate atrophy Tetraparesis Hyperactivity Status epilepticus Neuronal loss in central nervous system Sleep disturbance Gait ataxia Coarse facial features Periventricular leukomalacia Painless fractures due to injury Poor motor coordination Acral ulceration Acute hepatic failure Arthropathy Pain insensitivity Abnormality of the immune system Decreased number of peripheral myelinated nerve fibers Increased susceptibility to fractures Sensorimotor neuropathy Microvesicular hepatic steatosis Cerebellar atrophy Decreased liver function Macrovesicular hepatic steatosis Corneal ulceration Cholestasis Sensory neuropathy Hepatic failure Recurrent corneal erosions Lactic acidosis Distal muscle weakness Abnormality of the liver Hypoglycemia Jaundice Hyporeflexia Areflexia Peripheral neuropathy Pain Muscle weakness Nystagmus Growth delay Short stature Reduced intraabdominal adipose tissue Hypertonia Bradykinesia Myopathy Feeding difficulties Proteinuria Recurrent aspiration pneumonia Bulbar signs Trismus Protuberant abdomen Oculomotor apraxia Aspiration Esotropia Ophthalmoplegia Apnea Rigidity Thrombocytopenia Respiratory distress Anemia Glycosuria Strabismus Cystic renal dysplasia Ectopic kidney Postnatal microcephaly Cerebral calcification Congenital cataract Abnormality of the kidney Polydactyly Cerebellar hypoplasia Dilatation Ventriculomegaly Cryptorchidism Cataract Elevated alkaline phosphatase Hypophosphatemic rickets Hypertension Neurofibrillary tangles Delayed speech and language development Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Motor aphasia Sea-blue histiocytosis Fetal ascites Bone-marrow foam cells Cataplexy Vertical supranuclear gaze palsy Perseveration Visceromegaly Supranuclear gaze palsy Interstitial pulmonary abnormality Renal Fanconi syndrome Aphasia Athetosis Oral-pharyngeal dysphagia Stereotypy Abnormal lung morphology Psychosis Neurodegeneration Dyskinesia Paralysis Dementia Dysarthria Muscular hypotonia Metabolic ketoacidosis Increased hepatic glycogen content Osteomyelitis leading to amputation due to slow healing fractures


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