Intellectual disability, severe, and Cirrhosis

Diseases related with Intellectual disability, severe and Cirrhosis

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

Top matches:

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

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

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Other less relevant matches:

Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by Vulliamy et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Thrombocytopenia
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY Is also known as gsd type ixc|gsd due to liver phosphorylase kinase deficiency|xlg|glycogen storage disease type 9c|glycogen storage disease type 9a|gsd ixc|gsd type 9c|glycogen storage disease type ixc|glycogenosis due to liver phosphorylase kinase deficiency|glycogenosi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY

Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016).

IMMUNODEFICIENCY 47; IMD47 Is also known as immunodeficiency and hepatopathy with or without neurologic features

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 47; IMD47

GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see {611162}) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008).

ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY Is also known as favism, susceptibility to

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Muscle weakness
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY

Medium match MEDNIK SYNDROME

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

Medium match DIHYDROPYRIMIDINURIA

Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency|dph deficiency|dihydropyrimidinuria|dpys deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINURIA

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Diarrhea Seizures Elevated hepatic transaminase Splenomegaly Cholestasis Muscle weakness Failure to thrive Fatigue Short stature Decreased liver function Hepatic fibrosis Acidosis Muscular hypotonia Jaundice Abnormality of the nervous system

Rare Symptoms - Less than 30% cases

Hypoglycemia Pain Ataxia Hepatic steatosis Myalgia Feeding difficulties in infancy Sensorineural hearing impairment Neoplasm Abnormality of the liver Prolonged neonatal jaundice Abdominal distention Hearing impairment Recurrent hypoglycemia Ketosis Leukopenia Hypercholesterolemia Hypertriglyceridemia Micronodular cirrhosis Delayed speech and language development Thrombocytopenia Malabsorption Brain atrophy Renal insufficiency Vomiting Skeletal muscle atrophy Feeding difficulties Nausea and vomiting Anemia Metabolic acidosis Nausea Stage 5 chronic kidney disease Recurrent bacterial infections Plagiocephaly Infantile spasms Fasting hypoglycemia Bile duct proliferation Decreased antibody level in blood Hypermetropia Portal fibrosis Hypoglycemic seizures Hepatic failure Excessive daytime somnolence Immunodeficiency Recurrent infections Hepatosplenomegaly Abnormal pyramidal sign Hyperlipidemia Reduced consciousness/confusion Nail dysplasia Extrapyramidal dyskinesia Slurred speech Steatorrhea Fat malabsorption Vertical supranuclear gaze palsy Vitamin D deficiency Hypolipidemia Nail dystrophy Cerebral calcification Morphological abnormality of the pyramidal tract Pancytopenia Bone marrow hypocellularity Testicular atrophy Reticulated skin pigmentation Motor delay Intractable diarrhea Lactic acidosis Short phalanx of finger Headache Scarring Irritability Hyperkeratosis Abnormality of the cerebral white matter Hemoglobinuria Nonspherocytic hemolytic anemia Unconjugated hyperbilirubinemia Kernicterus Fava bean-induced hemolytic anemia Cataract Peripheral neuropathy Upslanted palpebral fissure Lethargy Poikilocytosis High forehead Erythema Ichthyosis Abnormal intestine morphology Erythroderma Congenital sensorineural hearing impairment Intrahepatic cholestasis Hypocupremia Decreased serum ceruloplasmin Abnormal facial shape Anal atresia Short distal phalanx of finger Talipes equinovarus Fever Hip dysplasia Dyskinesia Muscle cramps Progressive muscle weakness Muscle stiffness Exercise intolerance Myoglobinuria Exercise-induced myalgia Increased hepatic glycogen content Increased muscle glycogen content Pallor Anisocytosis Hemolytic anemia Lymphoma Abnormality of the cardiovascular system Meningitis Hyperbilirubinemia Back pain Leukocytosis Dysmetria Hodgkin lymphoma Reticulocytosis Osteomyelitis Abnormality of neuronal migration Gait ataxia Nystagmus Psychotic episodes Alveolar proteinosis Oroticaciduria Pulmonary hemorrhage Protein avoidance Ornithinuria Argininuria Asterixis Scoliosis Hypertelorism Strabismus Hemophagocytosis Spasticity Ptosis Low-set ears Visual impairment Hypertension Hyperreflexia Macrocephaly Downslanted palpebral fissures Tremor Gait disturbance Hyperlysinuria Increased serum ferritin Anteverted nares Increased serum lactate Cognitive impairment Respiratory insufficiency Delayed skeletal maturation Osteoporosis Osteopenia Sparse hair Coma Recurrent fractures Postural instability Abnormal bleeding Aciduria Glomerulopathy Fine hair Aminoaciduria Pancreatitis Cutis laxa Hyperammonemia Hyperextensible skin Systemic lupus erythematosus Glomerulonephritis Abnormality of the coagulation cascade Malnutrition Truncal obesity Frontal bossing Hydrocephalus Intellectual disability, mild Abnormality of abdomen morphology Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Chronic kidney disease Portal hypertension Chorioretinal coloboma Aplasia/Hypoplasia of the cerebellum Molar tooth sign on MRI Nephronophthisis Occipital encephalocele Biparietal narrowing Optic nerve coloboma Encephalocele Neoplasm of the liver Esophageal varix Cholestatic liver disease Abnormality of the hypothalamus-pituitary axis Congenital hepatic fibrosis Abnormal pattern of respiration Aplasia/Hypoplasia of the cerebellar vermis Multiple small medullary renal cysts Chronic hepatic failure Intrahepatic biliary atresia Multicystic kidney dysplasia Cerebellar vermis hypoplasia Dilatation Prominent nasal bridge Inguinal hernia Cerebellar hypoplasia Agenesis of corpus callosum Polydactyly Intellectual disability, moderate Apnea Abnormality of the kidney Abnormality of the eye Wide mouth Coloboma Abnormality of eye movement Apraxia Oral cleft Long face Iris coloboma Retinal dystrophy Nephropathy Highly arched eyebrow Renal cyst Round face Intestinal malrotation Gastrointestinal hemorrhage Postaxial hand polydactyly Reduced dihydropyrimidine dehydrogenase activity


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