Ventricular septal defect, and Hemolytic anemia

Diseases related with Ventricular septal defect and Hemolytic anemia

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


Top matches:

Low match COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM


COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

Low match MULTIPLE INTESTINAL ATRESIA


Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

Low match DIAMOND-BLACKFAN ANEMIA 12; DBA12


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 DBA, see DBA1 (OMIM ).

Related symptoms:

  • Growth delay
  • Anemia
  • Ventricular septal defect
  • Triphalangeal thumb
  • Macrocytic anemia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 12; DBA12

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Other less relevant matches:

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 DIAMOND-BLACKFAN ANEMIA 5; DBA5


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:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 5; DBA5

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA


Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

Low match ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A


CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (Tamary et al., 2005). Striking morphologic abnormalities of erythroblasts, reviewed by Wickramasinghe and Wood (2005), include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy.Four types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by Wendt and Heimpel (1967). Type I is characterized by megaloblastic changes. The more common type II (OMIM ) is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (OMIM ), which shows autosomal dominant inheritance, has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (OMIM ) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (Wickramasinghe et al., 1991; Arnaud et al., 2010). Genetic Heterogeneity of Congenital Dyserythropoietic AnemiaCDAN1B (OMIM ) is caused by mutation in the C15ORF41 gene (OMIM ) on chromosome 15q14; CDAN2 (OMIM ) is caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11; CDAN3 (OMIM ) maps to chromosome 15q21; and CDAN4 (OMIM ) is caused by mutation in the KLF1 gene (OMIM ) on chromosome 19p13.For a possible additional form of CDA type I, see {603529}.

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A Is also known as dyserythropoietic anemia, congenital, type ia|cda ia|anemia, congenital dyserythropoietic, type i

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY


Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

Related symptoms:

  • Anemia
  • Atrial septal defect
  • Immunodeficiency
  • Lymphadenopathy
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Immunodeficiency Common - Between 50% and 80% cases
Autoimmune hemolytic anemia Common - Between 50% and 80% cases
Autoimmunity Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ventricular septal defect and Hemolytic anemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Global developmental delay Patent ductus arteriosus Scoliosis Seizures Psoriasiform dermatitis Atrial septal defect Microcephaly Hearing impairment Intrauterine growth retardation Cholelithiasis Macrocytic anemia Autoimmune thrombocytopenia Vitiligo Intellectual disability High palate Abnormal facial shape Cleft palate Purpura Renal dysplasia Recurrent infections Thrombocytopenia Obesity Hypospadias Abnormal heart morphology Posteriorly rotated ears Abnormality of the pinna Hypothyroidism Inflammation of the large intestine Duodenal stenosis Anal atresia Intestinal malrotation Hashimoto thyroiditis Hypoplasia of the thymus

Rare Symptoms - Less than 30% cases


Jaundice Tetralogy of Fallot Arnold-Chiari malformation Bicuspid aortic valve Hydronephrosis Abnormality of the kidney Hypocalcemia Spina bifida Abnormal vertebral morphology Primary amenorrhea Astigmatism Low posterior hairline Amenorrhea Blepharophimosis Polymicrogyria Schizophrenia Renal agenesis Coarctation of aorta Chorea Abnormality of the middle ear Hypertension Bifid uvula Small nail Edema Bulbous nose Specific learning disability Ptosis Interrupted aortic arch Posterior embryotoxon Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Perimembranous ventricular septal defect Myelomeningocele Truncus arteriosus Meningocele Hypoparathyroidism Right aortic arch Arthritis Bipolar affective disorder Anal stenosis Micrognathia Impaired T cell function Retinal vascular tortuosity Acne Unilateral renal agenesis Rheumatoid arthritis Conotruncal defect Aplasia of the thymus Arteria lusoria Right aortic arch with mirror image branching Sacral meningocele Nasal speech Hypertelorism Low-set ears Anxiety Strabismus Intestinal atresia Type I diabetes mellitus Fever Combined immunodeficiency Peritoneal abscess Cognitive impairment Umbilical hernia Muscular hypotonia Abnormality of the ductus choledochus Generalized hypotonia Absent eyebrow Abnormality of the skeletal system Hypoplasia of the corpus callosum Reticulocytopenia Increased mean corpuscular volume Diarrhea Abdominal distention Hepatitis Thickened skin Decreased antibody level in blood Lymphopenia Omphalocele Short neck Delayed speech and language development Nail dystrophy Polyhydramnios Retrognathia Ectopic calcification Bloody diarrhea Severe combined immunodeficiency Rectal abscess Jejunoileal ulceration Depressivity Hernia Inguinal hernia Abnormality of cardiovascular system morphology Sparse hair Hydrocephalus Alopecia of scalp Congenital cystic adenomatoid malformation of the lung Thyroiditis Gastrointestinal atresia Behavioral abnormality Blue sclerae Growth hormone deficiency Otitis media Increased body weight Microdontia Sparse and thin eyebrow Horseshoe kidney Congenital diaphragmatic hernia Recurrent otitis media Hyperbilirubinemia Heterotopia Failure to thrive in infancy Abnormal dermatoglyphics Long eyelashes Congenital hip dislocation Abnormality of the urinary system Cafe-au-lait spot Poor suck Conductive hearing impairment Dental malocclusion Renal insufficiency Micropenis Severe short stature Pneumonia Visual loss Clinodactyly Dilatation Kyphosis Pes planus Intellectual disability, mild Abnormality of the dentition Myopia Wide nasal bridge Brachydactyly Epicanthus Feeding difficulties Macrotia Hypoglycemia Prominent nose Malabsorption Hypodontia Single transverse palmar crease Highly arched eyebrow Hirsutism Wide nose Joint hypermobility Abnormal cardiac septum morphology Joint laxity Brittle hair Paralysis Protruding ear Respiratory tract infection Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Coloboma Long palpebral fissure Precocious puberty Congenital mitral stenosis Common atrium Anorectal anomaly Crossed fused renal ectopia Single ventricle Sclerosing cholangitis Liver abscess Prominent eyelashes Premature thelarche Eversion of lateral third of lower eyelids Short nasal septum Pilonidal sinus Vertical orbital dystopia Nocturnal lagophthalmos Anoperineal fistula Lymphadenopathy Epibulbar dermoid Neutropenia Lymphoma Ventricular hypertrophy Inflammatory abnormality of the skin Recurrent bacterial infections Patent foramen ovale Increased antibody level in blood Right ventricular hypertrophy Chronic mucocutaneous candidiasis B-cell lymphoma Recurrent viral infections Verrucae Lymphoproliferative disorder Pulmonary insufficiency Vertebral clefting Recurrent aspiration pneumonia Cupped ear Patellar dislocation Bilateral cryptorchidism Preauricular pit Hydroureter Bundle branch block Right bundle branch block Celiac disease Failure to thrive Severe hearing impairment Transposition of the great arteries Cerebellar vermis atrophy Congenital hypothyroidism IgA deficiency Overweight Scaphocephaly Short columella Prominent fingertip pads Trichorrhexis nodosa Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Broad philtrum Depressed nasal tip Small face Cholangitis Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Cryptorchidism Pericardial effusion Macrocytic dyserythropoietic anemia Pulmonary artery atresia Triphalangeal thumb Decreased proportion of CD8-positive T cells Jejunal atresia Microcolon Duodenal atresia Hematochezia Hearing abnormality Abnormality of abdomen morphology Delusions Pierre-Robin sequence Echolalia Abnormality of the endocrine system Abnormal intestine morphology Axonal loss Sepsis Small for gestational age Scarring Platybasia Mood swings Alopecia Paranoia Giant platelets Velopharyngeal insufficiency Recurrent abscess formation Psychotic episodes Central nervous system degeneration Vascular ring Submucous cleft hard palate Basal ganglia calcification Congenital conductive hearing impairment Intellectual disability, severe Aggressive behavior Mental deterioration Hyperactivity Dementia Congenital cataract Pulmonic stenosis Dysmetria Vesicoureteral reflux Underdeveloped nasal alae Absent speech Peripheral demyelination Cerebellar atrophy Psychosis Open mouth Abnormality of the ear Hallucinations Multicystic kidney dysplasia Narrow palpebral fissure Holoprosencephaly Cataract Abnormality of the hand Elevated red cell adenosine deaminase activity Dysdiadochokinesis Normochromic anemia Apathy Obsessive-compulsive behavior Hypoplasia of the brainstem Myopathic facies Perineal fistula Unilateral lung agenesis Reduced activity of N-acetylglucosaminyltransferase II Sideroblastic anemia Parathyroid agenesis Type I truncus arteriosus Respiratory insufficiency Arrhythmia Acidosis EEG abnormality Lactic acidosis Metabolic acidosis Ascites Oligohydramnios Decreased liver function Extramedullary hematopoiesis Splenomegaly Decreased circulating parathyroid hormone level Syndactyly Hepatosplenomegaly Hip dysplasia Hydrops fetalis Prolonged neonatal jaundice Reticulocytosis Increased serum ferritin Anisocytosis Anemia of inadequate production Poikilocytosis Erythroid hyperplasia Mild postnatal growth retardation Endopolyploidy on chromosome studies of bone marrow Parathyroid hypoplasia Accommodative esotropia Unilateral primary pulmonary dysgenesis Generalized tonic-clonic seizures Leukopenia Erythroid hypoplasia Neoplasm Flexion contracture Hypertonia Microphthalmia Narrow mouth Telecanthus Cleft lip Craniosynostosis Attention deficit hyperactivity disorder Short philtrum Microtia Iris coloboma Esophoria High, narrow palate Short palpebral fissure Broad thumb Amblyopia Exotropia Sclerocornea Tetany Anterior segment developmental abnormality Femoral hernia Alcoholism Perisylvian polymicrogyria Abnormality of the thymus Vascular tortuosity Recurrent fungal infections



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