Anemia, and Tetralogy of Fallot

Diseases related with Anemia and Tetralogy of Fallot

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


Top matches:

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 DIAMOND-BLACKFAN ANEMIA 7; DBA7


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

Low match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match SYNDROMIC DIARRHEA


Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Low match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Top 5 symptoms//phenotypes associated to Anemia and Tetralogy of Fallot

Symptoms // Phenotype % cases
Ventricular septal defect Common - Between 50% and 80% cases
Abnormal heart morphology Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Global developmental delay Abnormality of cardiovascular system morphology Patent ductus arteriosus Scoliosis Cleft palate Seizures Spina bifida Osteoporosis Atrial septal defect Neoplasm Cognitive impairment Pulmonic stenosis Cataract Polyhydramnios Hearing impairment Behavioral abnormality Thrombocytopenia Osteopenia Vesicoureteral reflux Short thumb Triphalangeal thumb Coarctation of aorta Anteverted nares Hypertelorism Failure to thrive Autism Abnormal facial shape Hyperactivity Depressivity Bifid uvula Abnormal cardiac septum morphology Ventricular hypertrophy Hydrocephalus Respiratory tract infection

Rare Symptoms - Less than 30% cases


Unilateral renal agenesis Sepsis Dry skin Abnormality of the liver Abnormality of the pinna Hernia Immunodeficiency Edema Hypoplasia of the radius Duodenal atresia Absent radius Iron deficiency anemia Wide nasal bridge Depressed nasal bridge Perineal fistula Ptosis Delayed speech and language development Abnormality of the skeletal system Glaucoma Leukemia Abnormality of the hand Abnormality of the genital system Depressed nasal ridge Premature birth Hypoplastic left heart Multicystic kidney dysplasia Motor delay Psychosis Talipes equinovarus Pruritus Attention deficit hyperactivity disorder Postnatal growth retardation Aggressive behavior Anxiety Mitral valve prolapse Headache Hypospadias Hypoplasia of the corpus callosum Pneumonia Aplasia of the uterus Abnormality of the kidney Finger syndactyly Facial asymmetry Anal atresia Intestinal malrotation Renal agenesis Microcephaly Intellectual disability, severe Renal dysplasia Abnormality of the pancreas Obsessive-compulsive behavior Seborrheic dermatitis Specific learning disability Congestive heart failure Recurrent infections Paralysis Broad forehead Esophagitis Interrupted aortic arch Increased mean corpuscular volume Truncus arteriosus Reticulocytopenia Fetal distress Proptosis Arrhythmia Micrognathia Horseshoe kidney Macrocytic anemia Choanal atresia Underdeveloped supraorbital ridges Delayed puberty Autistic behavior Retrognathia Clinodactyly of the 5th finger Pulmonary artery atresia Neutropenia Cleft lip Cryptorchidism Neurofibrosarcoma Edema of the dorsum of feet Single ventricle Renal artery stenosis Tibial pseudoarthrosis Cerebral artery stenosis Renovascular hypertension Axillary freckling Spinal neurofibromas Arterial fibromuscular dysplasia Optic nerve glioma Vestibular Schwannoma Inguinal freckling Embryonal rhabdomyosarcoma Neuroma Acute promyelocytic leukemia Subcutaneous neurofibromas Plexiform neurofibroma Hemangioma Brow ptosis Aplasia/hypoplasia of the humerus Mental deterioration Abnormality of the shoulder Meckel diverticulum Arthritis Conductive hearing impairment Umbilical hernia Bilateral radial aplasia Renal malrotation Intermittent thrombocytopenia Edema of the dorsum of hands Hypothyroidism Posteriorly rotated ears Nevus flammeus of the forehead Generalized hypotonia Dementia Inguinal hernia Obesity Absent speech Cerebellar atrophy Amegakaryocytic thrombocytopenia Short neck Tibial torsion Fever High palate Lactose intolerance Muscular hypotonia Pseudoarthrosis Lisch nodules Soft tissue sarcoma Axial malrotation of the kidney Renal cell carcinoma Osteomalacia Multiple cafe-au-lait spots Freckling Shoulder muscle hypoplasia Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Tetraphocomelia Back pain Sarcoma Incoordination Breast carcinoma Reduced bone mineral density Venous thrombosis Atherosclerosis Sensorimotor neuropathy Bone pain Cafe-au-lait spot Aganglionic megacolon Severe vision loss Overweight Epigastric pain Carcinoid tumor Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Paraganglioma Increased reactive oxygen species production Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Meningioma Gangrene Aplasia/Hypoplasia of the ulna Amenorrhea Blepharophimosis Paranoia Vascular ring Central nervous system degeneration Arteria lusoria Patellar dislocation Cardiorespiratory arrest Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Duodenal stenosis Right aortic arch with mirror image branching Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Graves disease Chromosome breakage Juvenile rheumatoid arthritis Abnormality of the endocrine system Echolalia Myelomeningocele Congenital conductive hearing impairment Sacral meningocele Delusions Intracranial hemorrhage Adducted thumb Short phalanx of finger Left ventricular hypertrophy Broad thumb Cerebellar vermis hypoplasia Blue sclerae Focal-onset seizure Decreased antibody level in blood Eosinophilia Severe global developmental delay Genu varum Hip dislocation Unilateral lung agenesis Hepatosplenomegaly Brachycephaly Focal impaired awareness seizure Megalocornea Agenesis of corpus callosum Cerebellar hypoplasia Nevus flammeus Malar flattening Sensorineural hearing impairment Strabismus Unilateral primary pulmonary dysgenesis Carpal synostosis Pierre-Robin sequence Meningocele Autoimmunity Hypocalcemia Cholelithiasis Nasal speech Schizophrenia Lateral clavicle hook Arnold-Chiari malformation Generalized tonic-clonic seizures with focal onset Bicuspid aortic valve Cervical ribs Holoprosencephaly Purpura Narrow palpebral fissure Hallucinations Rheumatoid arthritis Open mouth Primary amenorrhea Low posterior hairline Peripheral demyelination Coxa valga Underdeveloped nasal alae Chorea Hemolytic anemia Bulbous nose Dysmetria Congenital cataract Dysdiadochokinesis Psoriasiform dermatitis Hearing abnormality Delayed CNS myelination Hypoparathyroidism Vitiligo Bipolar affective disorder Hypsarrhythmia Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Aplastic anemia Basal ganglia calcification Abnormality of the ear Phocomelia Myopathic facies Allergy Inflammation of the large intestine Hypoplasia of the brainstem Patellar aplasia Fused cervical vertebrae Cavum septum pellucidum Pancreatic cysts Fibular aplasia Acne Carpal bone hypoplasia Apathy Posterior embryotoxon Missing ribs Abnormality of the cardiovascular system Fine hair Thrombocytosis Curly hair Abnormality of the immune system Brittle hair Hypoalbuminemia Recurrent upper respiratory tract infections Leukopenia Aortic regurgitation Abnormality of the hair Hepatic fibrosis Chronic diarrhea Pancytopenia Large forehead Aciduria Wide nose Hepatic failure Cirrhosis Small for gestational age Microtia Sparse hair Wide mouth Elevated hepatic transaminase Jaundice Narrow mouth Woolly hair Villous atrophy Long philtrum Abnormality of iron homeostasis Nausea Abnormality of the cerebral white matter Skin rash Irritability Hypertonia Vomiting Tremor Hyperreflexia Spasticity Abnormalities of placenta or umbilical cord Large placenta Galactosuria Abnormal thrombocyte morphology Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Peripheral pulmonary artery stenosis Prominent forehead Diarrhea Delayed myelination Clubbing Endocarditis Abnormal nasal morphology Right ventricular failure Breathing dysregulation Right ventricular hypertrophy Double outlet right ventricle Hyperventilation Poor appetite Polycythemia Preauricular pit Heart murmur Easy fatigability Pulmonary valve atresia Increased body weight Sinusitis Hemiparesis Cyanosis Thin vermilion border Dolichocephaly Dyspnea Recurrent respiratory infections Clinodactyly Respiratory distress Brachydactyly Overriding aorta Tetralogy of Fallot with absent pulmonary valve Frontal bossing Migraine Downslanted palpebral fissures Hepatomegaly Low-set ears Persistence of hemoglobin F Cleft soft palate Acute leukemia Tracheomalacia Abnormality of the urinary system Melanoma Mitral regurgitation Thick lower lip vermilion Cleft upper lip Absence of the pulmonary valve Pallor Short nose Fatigue Uterine neoplasm Small hypothenar eminence Vitamin D deficiency Secundum atrial septal defect Recurrent lower respiratory tract infections Sprengel anomaly Atresia of the external auditory canal Recurrent otitis media Asthma Cerebral calcification Overgrowth Supernumerary ribs Abnormality of the gallbladder Hemifacial hypoplasia Absence of the sacrum Anorectal anomaly Abnormality of the urethra Abnormality of the intervertebral disk Lower limb undergrowth Vertebral clefting Laryngeal stenosis Abnormality of the nasopharynx Abnormal sacrum morphology Tethered cord Abnormal tracheobronchial morphology Cavernous hemangioma Ureteropelvic junction obstruction Abnormality of female internal genitalia Atelectasis Rectovaginal fistula Tracheal stenosis Single umbilical artery Muscle weakness Aplasia/Hypoplasia of the lungs Esophageal atresia Anencephaly Potter facies Asymmetric crying face Wheezing Weight loss Gastrointestinal hemorrhage Lymphoma Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Genu valgum Malabsorption Hypertrophic cardiomyopathy Hypoglycemia Kyphoscoliosis Visual loss Patent urachus Dilatation Intellectual disability, mild Blindness Cardiomyopathy Respiratory insufficiency Macrocephaly Dysarthria Peripheral neuropathy Hypertension Visual impairment Pain Aplasia/Hypoplasia of the radius Occipital encephalocele Eczema Hyperphenylalaninemia Low-set, posteriorly rotated ears Hydronephrosis Polydactyly Syndactyly Dysphagia Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Prenatal maternal abnormality Body odor Pulmonary hypoplasia Folate deficiency Mood changes Abnormal posturing Generalized hypopigmentation Fair hair Blue irides Self-mutilation Poor coordination Scleroderma Malnutrition Spontaneous abortion Tachycardia Hypoplasia of penis Transposition of the great arteries Preaxial polydactyly Abnormality of the sternum Non-midline cleft lip Vertebral segmentation defect Right bundle branch block Bundle branch block Ectopic kidney Dextrocardia Preaxial hand polydactyly Tracheoesophageal fistula Bifid scrotum Radioulnar synostosis Laryngomalacia Ambiguous genitalia Tachypnea Abnormality of the outer ear Hemivertebrae Situs inversus totalis Preauricular skin tag Abnormal vertebral morphology Large fontanelles Recurrent urinary tract infections Omphalocele Small nail Abnormality of the ribs Congenital diaphragmatic hernia Cow milk allergy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Vertigo, related diseases and genetic alterations Brachydactyly and Lissencephaly, related diseases and genetic alterations Hydrocephalus and Polycystic kidney dysplasia, related diseases and genetic alterations Flexion contracture and Hypertrophic cardiomyopathy, related diseases and genetic alterations Cataract and Skeletal muscle atrophy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more