Global developmental delay, and Hemolytic anemia

Diseases related with Global developmental delay and Hemolytic anemia

In the following list you will find some of the most common rare diseases related to Global developmental delay and Hemolytic anemia that can help you solving undiagnosed cases.

Top matches:

Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.

Related symptoms:

  • Global developmental delay
  • Anemia
  • Hepatosplenomegaly
  • Hemolytic anemia
  • Nonspherocytic hemolytic anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY Is also known as cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal intrahepatic cholestasis caused by citrin deficiency|citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia|niccd

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY

AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME Is also known as tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease|tppii deficiency|triangle disease|tripeptidyl-peptidase ii deficiency|evans syndrome associated with primary immunodeficien

Related symptoms:

  • Splenomegaly
  • Respiratory tract infection
  • Autoimmunity
  • Stroke
  • Lymphadenopathy


SOURCES: ORPHANET MENDELIAN

More info about AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).

GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA Is also known as 5-oxoprolinuria|pyroglutamic aciduria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA

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

Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Top 5 symptoms//phenotypes associated to Global developmental delay and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Hemolytic anemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Ataxia Tremor Dystonia Falls Dysarthria Nystagmus Hyperbilirubinemia Choreoathetosis Microcephaly Neutropenia Hepatosplenomegaly Sepsis Jaundice

Rare Symptoms - Less than 30% cases

Involuntary movements Spastic tetraparesis Hypoglycorrhachia Tetraparesis Reticulocytosis Spastic paraplegia Paraplegia Hemiplegia Progressive neurologic deterioration Frequent falls Lower limb spasticity Thrombocytopenia Recurrent infections Short stature Hypertonia Renal insufficiency Respiratory distress Cognitive impairment Hyperreflexia Fatigue Mental deterioration Chorea Migraine Delayed speech and language development Brachydactyly Recurrent bacterial infections Moderate global developmental delay Recurrent otitis media Autoimmunity Abnormality of the liver Abnormality of the nervous system Growth delay Failure to thrive Hepatitis Opportunistic infection Rod-cone dystrophy Myalgia Paralysis Muscular dystrophy Impaired memory B cell generation Agranulocytosis Retinal dystrophy Aphasia Emotional lability Muscle cramps Exercise intolerance Visual loss Acute kidney injury Purpura IgE deficiency Rhabdomyolysis Progressive encephalopathy Optic atrophy Muscular hypotonia Glutathione synthetase deficiency Hemiplegia/hemiparesis Renal tubular acidosis Increased reactive oxygen species production Compensated hemolytic anemia Hyperammonemia Chronic metabolic acidosis Pancreatitis Psychotic mentation Encephalopathy Increased level of L-pyroglutamic acid in urine Coma Nausea and vomiting Lethargy Pain High palate Decreased mean corpuscular volume Myopathy Myoglobinuria Enlarged tonsils Increased muscle fatiguability Stomatitis Fever Diarrhea Immunodeficiency Weight loss Carcinoma Neurodegeneration Decreased antibody level in blood Otitis media Cholangitis Chronic hepatitis Agammaglobulinemia Clumsiness Gingivitis Recurrent lower respiratory tract infections Chronic diarrhea Leukoencephalopathy Encephalitis IgA deficiency IgG deficiency IgM deficiency Dysgammaglobulinemia Hepatocellular carcinoma Macrotia Absence of lymph node germinal center Recurrent myoglobinuria Exercise-induced muscle cramps Exercise-induced myoglobinuria Cataract Macrocephaly Hydrocephalus Impaired Ig class switch recombination Absent speech Inability to walk Hemoglobinuria Delayed myelination Hyperkalemia Broad neck Conjugated hyperbilirubinemia Decreased T cell activation Cholangiocarcinoma Sclerosing cholangitis Stomatocytosis Increased IgM level Zonular cataract Migraine without aura Intention tremor Developmental regression Lymphadenopathy Hemiparesis Lymphopenia Systemic lupus erythematosus Autoimmune hemolytic anemia Autoimmune thrombocytopenia Babinski sign Rigidity Skin rash Respiratory tract infection Cerebral calcification Leukodystrophy Clonus Toe walking Ankle clonus Freckling Progressive spastic paraplegia Loss of speech Generalized dystonia Stroke Elevated plasma citrulline Limb tremor Cholestasis Nonspherocytic hemolytic anemia Chronic hemolytic anemia Congenital hemolytic anemia Hypoglycemia Small for gestational age Cirrhosis Hepatic steatosis Hypertriglyceridemia Decreased liver function Hypermethioninemia Hepatic fibrosis Hypercholesterolemia Prolonged neonatal jaundice Abnormality of lipid metabolism Intrahepatic cholestasis Hypoproteinemia Decreased HDL cholesterol concentration Hypergalactosemia Giant cell hepatitis Loss of ability to walk Generalized hypotonia Pigmentary retinopathy Paroxysmal dyskinesia Atonic seizures Hyperactive deep tendon reflexes Hand tremor Action tremor Episodic ataxia Torsion dystonia Abnormality of the head Limb dysmetria Paroxysmal dystonia Focal impaired awareness seizure Jerky head movements Focal aware seizure Upper limb dysmetria Generalized tonic-clonic seizures without focal onset Vomiting Acidosis Nausea Metabolic acidosis Aciduria Impulsivity Slurred speech Muscle weakness Generalized tonic-clonic seizures Intellectual disability, mild Cerebral atrophy Myoclonus Gait ataxia EEG abnormality Aggressive behavior Intellectual disability, moderate Irritability Abnormality of movement Absence seizures Dysmetria Paresthesia Dyskinesia Focal-onset seizure Specific learning disability Generalized-onset seizure Limb ataxia Progressive microcephaly Horizontal nystagmus Renal tubular dysfunction


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