Anemia, and Hypoglycemia

Diseases related with Anemia and Hypoglycemia

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


Top matches:

Low match ORTHOSTATIC HYPOTENSION 2; ORTHYP2


Orthostatic hypotension-2 is an autosomal recessive disorder characterized by severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. Some patients may also have renal dysfunction and reduced life expectancy. The disorder results from a defect in the biosynthesis of norepinephrine from dopamine due to a cofactor deficiency.For a discussion of genetic heterogeneity of ORTHYP, see ORTHYP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hypoglycemia
  • Vertigo
  • Tachycardia
  • Hypotension


SOURCES: OMIM MENDELIAN

More info about ORTHOSTATIC HYPOTENSION 2; ORTHYP2

Low match NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN 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

Low match PITUITARY STALK INTERRUPTION SYNDROME


Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis|ectopic neurohypophysis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PITUITARY STALK INTERRUPTION SYNDROME

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Other less relevant matches:

Low match PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY


The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.

PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY Is also known as natural killer cell deficiency, familial isolated|natural killer cell and glucocorticoid deficiency with dna repair defect|nkgcd|primary immunodeficiency due to mcm4 deficiency|nkcd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY

Low match MPI-CDG


MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

MPI-CDG Is also known as cdg-ib|cdg, gastrointestinal type|congenital disorder of glycosylation type ib|carbohydrate deficient glycoprotein syndrome type ib|saguenay-lac saint-jean syndrome|mpi deficiency|slsj syndrome|phosphomannose isomerase deficiency|cdg ib|cdgib|protein-losi

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MPI-CDG

Low match DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Low match PITUITARY APOPLEXY


The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

Low match 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA


3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.

3-HYDROXY-3-METHYLGLUTARIC ACIDURIA Is also known as hydroxymethylglutaric aciduria|hmg-coa lyase deficiency|3-hydroxy-3-methylglutaryl-coa lyase deficiency|hmgcl deficiency|hl deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity
  • Anemia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA

Low match PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES


Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.

PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES Is also known as pyridoxamine 5'-phosphate oxidase deficiency|seizures, pyridoxine-resistant, plp-sensitive|pnpo deficiency|pyridoxal phosphate-dependent seizures|epileptic encephalopathy, neonatal, pnpo-related|pnpo-related neonatal epileptic encephalopathy|pyridoxamine

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES

Low match NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Top 5 symptoms//phenotypes associated to Anemia and Hypoglycemia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Hypoglycemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatic steatosis Cirrhosis Coma Generalized hypotonia Intrauterine growth retardation Intellectual disability Vomiting Hypotension Abnormality of the liver

Rare Symptoms - Less than 30% cases


Small for gestational age Recurrent infections Cryptorchidism Hypertension 3-Methylglutaric aciduria Glutaric aciduria Myoclonus Acidosis Aciduria Metabolic acidosis Recurrent hypoglycemia Postnatal growth retardation Diarrhea Feeding difficulties Microvesicular hepatic steatosis Hypoalbuminemia Abnormality of the coagulation cascade Short stature Microcephaly Jaundice Hypoproteinemia Excessive daytime somnolence Cholestasis Decreased liver function Hepatic fibrosis Fever Abnormality of eye movement Fatigue Thunderclap headache Increased level of 3-hydroxy-3-methylglutaric acid in urine Vitamin A deficiency Decreased plasma carnitine Acute pancreatitis Dicarboxylic aciduria Bitemporal hemianopia Nonketotic hypoglycemia Increased level of hippuric acid in urine Trigeminal neuralgia Ketonuria Hypertonia Pituitary hypothyroidism Thrombocytopenia Encephalopathy Pituitary adenoma Prolactin excess Autism Organic aciduria Hyperuricemia Abnormal caudate nucleus morphology Irritability Mydriasis Abnormal static automated perimetry test Spasticity Prolactin deficiency Muscular hypotonia of the trunk Abnormality of the cerebrospinal fluid EEG abnormality Lethargy Apathy Galactorrhea Abnormality of the cerebral white matter Normochromic anemia Central diabetes insipidus Dehydration Abnormal kinetic perimetry test Pancreatitis Hyperammonemia Adrenocorticotropic hormone deficiency Epileptic encephalopathy Feeding difficulties in infancy Joint laxity Abnormality of arginine metabolism High palate Respiratory insufficiency Cerebral atrophy Hernia Inguinal hernia Gastroesophageal reflux Osteopenia Deeply set eye Elevated hepatic transaminase Abnormality of the eye Low APGAR score Cough Ascites Oligohydramnios Pancytopenia Abnormal lung morphology Hypocalcemia Tachypnea Portal hypertension Rickets Bile duct proliferation Interstitial pulmonary abnormality Abnormality of threonine metabolism Abnormality of glycine metabolism Autistic behavior Global brain atrophy Unsteady gait Generalized myoclonic seizures Premature birth Increased serum lactate Status epilepticus Anasarca Hemiparesis Progressive microcephaly Leukopenia Increased circulating cortisol level CNS hypomyelination Excessive salivation Vitamin D deficiency Moderate global developmental delay Fetal distress Abnormality of the amniotic fluid Hemiclonic seizures High-pitched cry Hypoargininemia Decreased CSF homovanillic acid Pyridoxine-responsive sideroblastic anemia EEG with burst suppression Abnormality of histidine metabolism Abnormality of tyrosine metabolism Oligomenorrhea Normochromic microcytic anemia Growth hormone excess Adrenal insufficiency Septo-optic dysplasia Abnormality of the pituitary gland Neoplasm Splenomegaly Immunodeficiency Clinodactyly Delayed skeletal maturation Recurrent respiratory infections Respiratory failure Lymphadenopathy Chromosome breakage Abnormality of the hypothalamus-pituitary axis Recurrent viral infections Lymphoproliferative disorder Stomatitis Muscular hypotonia Edema Apnea Malabsorption Hepatic failure Abnormal bleeding Gastrointestinal hemorrhage Ectopic posterior pituitary Adrenal hypoplasia Lymphedema Abnormality of lipid metabolism Vertigo Tachycardia Orthostatic hypotension Abnormality of the nervous system Hemolytic anemia Hepatitis Hypertriglyceridemia Hyperbilirubinemia Hypercholesterolemia Prolonged neonatal jaundice Intrahepatic cholestasis Diabetes insipidus Decreased HDL cholesterol concentration Hypergalactosemia Giant cell hepatitis Hypermethioninemia Elevated plasma citrulline Micropenis Hypothyroidism Delayed puberty Hypoplasia of penis Primary amenorrhea Chronic diarrhea Abnormal intestine morphology Hypopituitarism Reduced visual acuity Hypokinesia Microcytic anemia Perineal hypospadias 3-Methylglutaconic aciduria Nonprogressive cerebellar ataxia Testicular dysgenesis Noncompaction cardiomyopathy Penile hypospadias Ptosis Headache Photophobia Abnormality of the genital system Pallor Nausea and vomiting Confusion Growth hormone deficiency Diplopia Hypergonadotropic hypogonadism Cranial nerve paralysis Hyponatremia Impotence Blurred vision Prolonged QT interval Mitral regurgitation Hyperinsulinemic hypoglycemia Reduced factor XI activity Villous atrophy Generalized edema Congenital hepatic fibrosis Protein-losing enteropathy Abnormal thrombosis Enterocolitis Type I transferrin isoform profile Intestinal lymphangiectasia Secretory diarrhea Reduced antithrombin III activity Lymphangiectasis Decreased testicular size Ataxia Muscle weakness Motor delay Optic atrophy Cardiomyopathy Congestive heart failure Hypospadias Arrhythmia Dilated cardiomyopathy Sudden cardiac death Small scrotum



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