Anemia, and Cyanosis

Diseases related with Anemia and Cyanosis

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


Top matches:

Low match SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME


SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME Is also known as hbs-beta-thalassemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Pneumonia
  • Jaundice


SOURCES: ORPHANET MENDELIAN

More info about SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME

Low match CYANOSIS, TRANSIENT NEONATAL; TNCY


Neonatal cyanosis is characterized by symptoms in the fetus and neonate that gradually abate by 5 to 6 months of age. The disorder is caused by a defect in the fetal hemoglobin chain, which causes reduced affinity for oxygen due to steric inhibition of oxygen binding and/or due to increased oxidation of the fetal hemoglobin molecule to methemoglobin (Hb FM), which has decreased oxygen-binding capacity. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain (HBB ) is produced and replaces the fetal gamma-globin chain (summary by Crowley et al., 2011).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Jaundice
  • Cyanosis
  • Reticulocytosis


SOURCES: OMIM MENDELIAN

More info about CYANOSIS, TRANSIENT NEONATAL; TNCY

Low match NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM


Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM Is also known as nhpt|nsph|nshpt|hyperparathyroidism, neonatal severe primary

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM

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Other less relevant matches:

Low match HEREDITARY ELLIPTOCYTOSIS


Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

HEREDITARY ELLIPTOCYTOSIS Is also known as he

Related symptoms:

  • Anemia
  • Fatigue
  • Respiratory distress
  • Jaundice
  • Cholelithiasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY ELLIPTOCYTOSIS

Low match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Low match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Low match PRIMARY HYPEROXALURIA TYPE 1


Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.

PRIMARY HYPEROXALURIA TYPE 1 Is also known as glycolic aciduria|peroxisomal alanine:glyoxylate aminotransferase deficiency|peroxisomal alanine-glyoxylate aminotransferase deficiency|hepatic agt deficiency|alanine-glyoxylate aminotransferase deficiency|serine:pyruvate aminotransferase deficiency|oxalo

Related symptoms:

  • Failure to thrive
  • Pain
  • Anemia
  • Peripheral neuropathy
  • Fever


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY HYPEROXALURIA TYPE 1

Low match TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1


Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic TelangiectasiaSee also HHT2 (OMIM ), caused by mutation in the ALK1 gene (ACVRL1 ) on chromosome 12q13; HHT3 (OMIM ), mapped to chromosome 5q31; HHT4 (OMIM ), mapped to chromosome 7p14; and HHT5 (OMIM ), caused by mutation in the GDF2 gene (OMIM ) on chromosome 10q11.See also juvenile polyposis/HHT syndrome (OMIM ), caused by mutation in the SMAD4 gene (OMIM ).

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 Is also known as telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber|orw disease|hht|osler-rendu-weber disease

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Low match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Top 5 symptoms//phenotypes associated to Anemia and Cyanosis

Symptoms // Phenotype % cases
Dyspnea Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Clubbing Uncommon - Between 30% and 50% cases
Jaundice Uncommon - Between 30% and 50% cases
Stroke Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Polycythemia Seizures Hematemesis Respiratory distress Pain Melena Gastrointestinal hemorrhage Epistaxis Telangiectasia Hematochezia Congestive heart failure Fatigue Failure to thrive Heart murmur Hepatomegaly

Rare Symptoms - Less than 30% cases


Optic atrophy Gastrointestinal angiodysplasia Lip telangiectasia Cerebral arteriovenous malformation Spontaneous, recurrent epistaxis Ascites Hemoptysis Abnormality of the skeletal system Brain abscess Visual loss Conjunctival telangiectasia Nausea Hematuria Right-to-left shunt Pulmonary arteriovenous malformation Spinal arteriovenous malformation Fingerpad telangiectases Umbilical hernia Headache Proptosis Macrocephaly Cryptorchidism Pericardial effusion Gastrointestinal arteriovenous malformation Portal hypertension Gastrointestinal telangiectasia Nail bed telangiectasia Palate telangiectasia Tongue telangiectasia Nasal mucosa telangiectasia Hepatic arteriovenous malformation Transient ischemic attack Atherosclerosis Subarachnoid hemorrhage Tachypnea Ischemic stroke Pulmonary arterial hypertension Migraine Cirrhosis Short stature Cerebral hemorrhage Calcinosis Neoplasm Scleroderma Abnormality of mucopolysaccharide metabolism Encephalopathy Elevated alkaline phosphatase Abnormality of the liver Abnormality of the vasculature Dilatation Retinal crystals Thrombocytosis Venous malformation Esophageal varix Hypoxemia Migraine with aura Bladder stones Arteriovenous fistula Focal sensory seizure Polycystic liver disease Pulmonary hemorrhage Hemangiomatosis Coronary artery aneurysm Short digit Arteriovenous fistulas of celiac and mesenteric vessels High-output congestive heart failure Dermatan sulfate excretion in urine Hyperoxaluria Abnormality of circulating enzyme level Peripheral arterial stenosis Atrioventricular block Cutis marmorata Pathologic fracture Optic neuropathy Heart block Localized skin lesion Dysplastic aortic valve Gangrene Acrocyanosis Raynaud phenomenon Focal seizures, afebril Dysuria Arterial occlusion Enuresis Pyelonephritis Intervertebral space narrowing Chills Choroidal neovascularization Decreased glomerular filtration rate Intermittent claudication Flank pain Calcium oxalate nephrolithiasis Venous varicosities of celiac and mesenteric vessels Calcinosis cutis Visual auras Hearing impairment Dilatation of mesenteric artery Increased mean corpuscular volume Morphological abnormality of the central nervous system Obstructive lung disease Recurrent otitis media J-shaped sella turcica Mitral regurgitation Abnormality of the face Abnormality of the optic disc Hyperplasia of the maxilla Hypochromic anemia Inspiratory stridor Thoracolumbar kyphosis Communicating hydrocephalus Abnormality of the cardiovascular system Beaking of vertebral bodies Edema of the lower limbs Abnormality of the skull Insomnia Protuberant abdomen Distal arthrogryposis Thickened skin Protruding tongue Recurrent upper respiratory tract infections Increased intracranial pressure Progressive hearing impairment Nephrocalcinosis Heparan sulfate excretion in urine Dilatation of celiac artery Prominent forehead Intellectual disability Global developmental delay Low-set ears Depressed nasal bridge Frontal bossing Anteverted nares Short neck Edema Behavioral abnormality Kyphosis Inguinal hernia Hyperactivity Limitation of joint mobility Mandibular prognathia Kyphoscoliosis Anisopoikilocytosis Coarse facial features Hepatosplenomegaly Urinary glycosaminoglycan excretion Aggressive behavior Developmental regression Postnatal growth retardation Joint stiffness Tachycardia Macroglossia Mitral valve prolapse Pulmonary artery atresia Increased bone mineral density Diplopia Abnormality of calcium-phosphate metabolism Choriocapillaris atrophy Cholelithiasis Elliptocytosis Diarrhea Hernia Abdominal pain Carcinoma Cough Vertigo Chest pain Hypokalemia Parathyroid adenoma Hypoalbuminemia Colon cancer Hamartoma Clubbing of fingers Intestinal polyposis Rectal prolapse Stomach cancer Hamartomatous polyposis Intussusception Multiple gastric polyps Duodenal adenocarcinoma Parathyroid hyperplasia Primary hyperparathyroidism Hepatic vascular malformations Abnormality of the metaphysis Pneumonia Delayed puberty Reticulocytosis Methemoglobinemia Generalized hypotonia Muscular hypotonia Splenomegaly Constipation Feeding difficulties in infancy Narrow chest Recurrent fractures Aminoaciduria Hyperphosphaturia Hypercalciuria Hypercalcemia Polydipsia Metaphyseal irregularity Polyuria Hypophosphatemia Abnormality of the thyroid gland Hyperparathyroidism Thyroiditis Hashimoto thyroiditis Neoplasm of the endocrine system Elevated circulating parathyroid hormone level Adenocarcinoma of the colon Growth delay Bone pain Fever Right ventricular hypertrophy Breathing dysregulation Interrupted aortic arch Right ventricular failure Abnormal nasal morphology Endocarditis Overriding aorta Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Absence of the pulmonary valve Peripheral neuropathy Vomiting Double outlet right ventricle Abnormality of the dentition Renal insufficiency Abnormality of metabolism/homeostasis Retinopathy Nausea and vomiting Stage 5 chronic kidney disease Metabolic acidosis Polyneuropathy Aciduria Progressive visual loss Recurrent urinary tract infections Nephrolithiasis Truncus arteriosus Hyperventilation Muscle weakness Paralysis Brachydactyly Intrauterine growth retardation Ventricular septal defect Abnormality of cardiovascular system morphology Clinodactyly Patent ductus arteriosus Arrhythmia Abnormal heart morphology Clinodactyly of the 5th finger Recurrent respiratory infections Respiratory tract infection Abnormal cardiac septum morphology Poor appetite Broad forehead Dolichocephaly Pulmonic stenosis Thin vermilion border Tetralogy of Fallot Ventricular hypertrophy Hemiparesis Sinusitis Increased body weight Easy fatigability Preauricular pit Underdeveloped supraorbital ridges Abnormality of nasopharyngeal adenoids



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Primary amenorrhea, related diseases and genetic alterations High palate and Atherosclerosis, related diseases and genetic alterations Ptosis and Short phalanx of finger, related diseases and genetic alterations Strabismus and Severe global developmental delay, related diseases and genetic alterations Nystagmus and Attention deficit hyperactivity disorder, related diseases and genetic alterations

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