Cognitive impairment, and Jaundice

Diseases related with Cognitive impairment and Jaundice

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Jaundice that can help you solving undiagnosed cases.


Top matches:

Medium match PHOSPHOHYDROXYLYSINURIA; PHLU


Phosphohydroxylysinuria is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013).

Related symptoms:

  • Seizures
  • Ataxia
  • Growth delay
  • Abnormality of the nervous system
  • Cyanosis


SOURCES: OMIM MENDELIAN

More info about PHOSPHOHYDROXYLYSINURIA; PHLU

Medium match CRIGLER-NAJJAR SYNDROME, TYPE II


The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II; and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (OMIM ), Rotor syndrome (OMIM ), and several forms of intrahepatic cholestasis ({147480}, {211600}, {214950}, {243300}). Detailed studies show that patients with Crigler-Najjar syndrome type II have reduced activity of bilirubin glucuronosyltransferase (Labrune et al., 1989, Seppen et al., 1994).

CRIGLER-NAJJAR SYNDROME, TYPE II Is also known as hblrcn2|hyperbilirubinemia, crigler-najjar type ii

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment
  • Jaundice


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRIGLER-NAJJAR SYNDROME, TYPE II

Medium match HEMOGLOBIN H DISEASE; HBH


Hemoglobin H disease is a subtype of alpha-thalassemia (see {604131}) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003).Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011).While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see {236750}.

HEMOGLOBIN H DISEASE; HBH Is also known as alpha-thalassemia, hemoglobin h type|hemoglobin h disease, deletional

Related symptoms:

  • Cognitive impairment
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOGLOBIN H DISEASE; HBH

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Other less relevant matches:

Medium match CRIGLER-NAJJAR SYNDROME TYPE 1


Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).

CRIGLER-NAJJAR SYNDROME TYPE 1 Is also known as hereditary unconjugated hyperbilirubinemia type 1|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1|ugt deficiency type 1|bilirubin-ugt deficiency type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Delayed speech and language development
  • Tremor


SOURCES: ORPHANET MENDELIAN

More info about CRIGLER-NAJJAR SYNDROME TYPE 1

Medium match CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1


Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989).Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' Genetic Heterogeneity of Benign Recurrent Intrahepatic CholestasisSee also BRIC2 (OMIM ), caused by mutation in the ABCB11 gene (OMIM ) on chromosome 2q24.

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 Is also known as summerskill syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Neoplasm
  • Failure to thrive
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1

Medium match CRIGLER-NAJJAR SYNDROME, TYPE I


CRIGLER-NAJJAR SYNDROME, TYPE I Is also known as crigler-najjar syndrome|hyperbilirubinemia, crigler-najjar type i|hblrcn1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about CRIGLER-NAJJAR SYNDROME, TYPE I

Medium match FAMILIAL ATRIAL MYXOMA


Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Medium match NIEMANN-PICK DISEASE, TYPE C2; NPC2


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

Medium match NAVAJO NEUROHEPATOPATHY


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 Cognitive impairment and Jaundice

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Prolonged neonatal jaundice Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Jaundice. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cholestasis Abnormality of the liver Intellectual disability Hearing impairment Short stature Hepatosplenomegaly Generalized hypotonia Memory impairment Hyperbilirubinemia Global developmental delay Progressive neurologic deterioration Delayed speech and language development Unconjugated hyperbilirubinemia

Rare Symptoms - Less than 30% cases


Infantile muscular hypotonia Athetosis Biliary tract abnormality Oculomotor nerve palsy Fever Neonatal hyperbilirubinemia Encephalopathy Kernicterus Vomiting Spasticity Failure to thrive Cirrhosis Dystonia Tremor Pain Edema Mental deterioration Decreased mean corpuscular volume Lethargy Muscular hypotonia Paralysis Intrahepatic cholestasis Conjugated hyperbilirubinemia Anemia Hemolytic anemia Aphasia Growth delay Oral-pharyngeal dysphagia Neurodegeneration Stereotypy Abnormal lung morphology Psychosis Purpura Interstitial pulmonary abnormality Neurofibrillary tangles Loss of speech Supranuclear gaze palsy Visceromegaly Perseveration Bradykinesia Spastic tetraparesis Dyskinesia Emotional lability Myoglobinuria Increased muscle fatiguability Progressive encephalopathy Reticulocytosis Cataplexy Acute kidney injury Rhabdomyolysis Recurrent myoglobinuria Respiratory failure Exercise-induced muscle cramps Exercise-induced myoglobinuria Dysarthria Hemiplegia Dysphagia Respiratory insufficiency Dementia Vertical supranuclear gaze palsy Hypoglycemia Bone-marrow foam cells Recurrent corneal erosions Sensorimotor neuropathy Increased body weight Increased susceptibility to fractures Decreased number of peripheral myelinated nerve fibers Abnormality of the immune system Arthropathy Acute hepatic failure Periventricular leukomalacia Sensory neuropathy Pain insensitivity Microvesicular hepatic steatosis Macrovesicular hepatic steatosis Corneal ulceration Acral ulceration Painless fractures due to injury Endometriosis Reye syndrome-like episodes Decreased liver function Hepatic steatosis Fetal ascites Peripheral neuropathy Sea-blue histiocytosis Motor aphasia Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Nystagmus Muscle weakness Diarrhea Hepatic failure Areflexia Hyporeflexia Tetraparesis Elevated hepatic transaminase Developmental regression Distal muscle weakness Abnormality of the cerebral white matter Lactic acidosis Exercise intolerance Pulmonary edema Migraine Intrahepatic cholestasis with episodic jaundice Pancreatitis Reduced bone mineral density Abnormality of coagulation Biliary cirrhosis Abnormal thrombocyte morphology Intermittent jaundice Increased serum bile acid concentration EEG abnormality Malabsorption Clumsiness Leukodystrophy Hyperkinesis Opisthotonus Homocystinuria High-pitched cry Atrial septal defect Hypocalcemia Pruritus Behavioral abnormality Cholelithiasis Abnormality of the nervous system Cyanosis Vertigo Encephalitis Ophthalmoparesis Pneumonia Hydrops fetalis Myelodysplasia Delayed skeletal maturation Microcytic anemia Abnormality of immune system physiology Abnormal hemoglobin Hypersplenism Reduced alpha/beta synthesis ratio Hemoglobin H Neoplasm Congestive heart failure Headache Muscle cramps Brachydactyly Endocarditis Orthopnea Increased inflammatory response Bacterial endocarditis Cardiac myxoma Pulmonic valve myxoma High palate Fatigue Subarachnoid hemorrhage Myopathy Renal insufficiency Visual loss Rod-cone dystrophy Myalgia Muscular dystrophy Retinal dystrophy Edema of the lower limbs Growth hormone excess Dilatation Cardiomegaly Confusion Abnormality of skin pigmentation Coma Ascites Chest pain Syncope Mitral valve prolapse Neoplasm of the skin Dilatation of the cerebral artery Ischemic stroke Easy fatigability Heart murmur Tricuspid regurgitation Cerebral hemorrhage Exertional dyspnea Thromboembolism Osteomyelitis leading to amputation due to slow healing fractures



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