Anemia, and Situs inversus totalis

Diseases related with Anemia and Situs inversus totalis

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


Top matches:

Medium match NEPHRONOPHTHISIS 1; NPHP1


Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. It is the most frequent genetic cause of renal failure in children. NPHP may be combined with extrarenal manifestations, such as liver fibrosis, situs inversus, or cardiac malformations. When nephronophthisis is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome (SLSN1 ); when it is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome (JBTS1 ); and when it is combined with multiple developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber syndrome (MKS1 ). Because most NPHP gene products localize to the cilium or its associated structures, nephronophthisis and the related syndromes have been termed 'ciliopathies' (summary by Hoff et al., 2013).Clinical features of familial juvenile nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death in uremia. Simms et al. (2009) provided a detailed review of nephronophthisis, including a discussion of clinical features and molecular genetics. Genetic Heterogeneity of NephronophthisisNPHP2 (OMIM ) is caused by mutation in the INVS gene (OMIM ) on chromosome 9q31; NPHP3 (OMIM ) is caused by mutation in the NPHP3 gene (OMIM ) on chromosome 3q22; NPHP4 (OMIM ) is caused by mutation in the NPHP4 gene (OMIM ) on chromosome 1p36; NPHP7 (OMIM ) is caused by mutation in the GLIS2 gene (OMIM ) on chromosome 16p13; NPHP9 (OMIM ) is caused by mutation in the NEK8 gene (OMIM ) on chromosome 17q11; NPHP11 (OMIM ) is caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q22; NPHP12 (OMIM ) is caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; NPHP13 (OMIM ) is caused by mutation in the WDR19 gene (OMIM ) on chromosome 4p14; NPHP14 (OMIM ) is caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16; NPHP15 (OMIM ) is caused by mutation in the CEP164 gene (OMIM ) on chromosome 11q; NPHP16 (OMIM ) is caused by mutation in the ANKS6 gene (OMIM ) on chromosome 9q22; NPHP18 (OMIM ) is caused by mutation in the CEP83 gene (OMIM ) on chromosome 12q22; NPHP19 (OMIM ) is caused by mutation in the DCDC2 gene (OMIM ) on chromosome 6p22; and NPHP20 (OMIM ) is caused by mutation in the MAPKBP1 gene (OMIM ) on chromosome 15q13.

NEPHRONOPHTHISIS 1; NPHP1 Is also known as nephronophthisis, familial juvenile|nph1

Related symptoms:

  • Growth delay
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Rod-cone dystrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEPHRONOPHTHISIS 1; NPHP1

Medium match NEPHRONOPHTHISIS 3; NPHP3


NEPHRONOPHTHISIS 3; NPHP3 Is also known as nph3

Related symptoms:

  • Low-set ears
  • Anemia
  • Respiratory insufficiency
  • Renal insufficiency
  • Dilatation


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 3; NPHP3

Medium match NEPHRONOPHTHISIS 2; NPHP2


NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

Related symptoms:

  • Global developmental delay
  • Anemia
  • Hypertension
  • Hepatomegaly
  • Respiratory insufficiency


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 2; NPHP2

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Other less relevant matches:

Medium match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Medium match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

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 ATRIAL SEPTAL DEFECT 2; ASD2


Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Abnormality of cardiovascular system morphology
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology


SOURCES: MESH OMIM MENDELIAN

More info about ATRIAL SEPTAL DEFECT 2; ASD2

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 CILIARY DYSKINESIA, PRIMARY, 3; CILD3


Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003).

CILIARY DYSKINESIA, PRIMARY, 3; CILD3 Is also known as ciliary dyskinesia, primary, 3, with or without situs inversus

Related symptoms:

  • Recurrent respiratory infections
  • Dyskinesia
  • Situs inversus totalis
  • Akinesia
  • Ciliary dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 3; CILD3

Top 5 symptoms//phenotypes associated to Anemia and Situs inversus totalis

Symptoms // Phenotype % cases
Abnormal cardiac septum morphology Common - Between 50% and 80% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Situs inversus totalis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dextrocardia Growth delay Abnormal heart morphology Nephronophthisis Intrauterine growth retardation Oligohydramnios Abnormality of cardiovascular system morphology Tubulointerstitial abnormality Hydronephrosis Failure to thrive Hepatic fibrosis Polyuria Polydipsia Hepatomegaly Cryptorchidism Nephropathy Stage 5 chronic kidney disease Renal insufficiency Hypertension Dilatation

Rare Symptoms - Less than 30% cases


Abnormality of the pancreas Rectovaginal fistula Clitoral hypertrophy Edema Thrombocytopenia Patent ductus arteriosus Small for gestational age Intellectual disability Pancytopenia Cholestasis Short stature Hearing impairment Microcephaly Sensorineural hearing impairment Cardiomyopathy Congestive heart failure Diabetes mellitus Postnatal growth retardation Hypospadias Tubulointerstitial fibrosis Retinal degeneration Tubular atrophy Intestinal malrotation Renal corticomedullary cysts Agenesis of permanent teeth Low-set ears Hyperechogenic kidneys Renal cyst Respiratory insufficiency Anal atresia Abnormality of the liver Hypoplasia of penis Rod-cone dystrophy Pulmonary hypoplasia Respiratory tract infection Dysphagia Talipes equinovarus Abnormality of the genitourinary system Hydrocephalus Syndactyly Pneumonia Polydactyly Polyhydramnios Low-set, posteriorly rotated ears Finger syndactyly Hyperbilirubinemia Renal agenesis Facial asymmetry Oligodontia Congenital diaphragmatic hernia Ambiguous genitalia Scoliosis Widely spaced teeth Tachycardia Vesicoureteral reflux Tetralogy of Fallot Severe muscular hypotonia Premature birth Cleft palate Hypoplastic nipples Midline skin dimples over anterior/posterior fontanelles Skin dimples Anal stenosis Exocrine pancreatic insufficiency Fair hair Calvarial skull defect Abnormal hair pattern Hypoproteinemia Lacrimation abnormality Hypopituitarism Abnormal vagina morphology Small nail Anteriorly placed anus Aplasia cutis congenita of scalp Glycosuria Steatorrhea Hydroureter Hypoplasia of the primary teeth Congenital sensorineural hearing impairment Frontal upsweep of hair Uterus didelphys Abnormality of the nares Portal hypertension Colonic diverticula Increased VLDL cholesterol concentration Absent lacrimal punctum Septate vagina Anasarca Malrotation of small bowel Facial cleft Abnormality of the female genitalia Urethrovaginal fistula Abnormality of the ribs Preaxial polydactyly Choanal atresia Lower limb undergrowth Missing ribs Single umbilical artery Tracheal stenosis Duodenal atresia Atelectasis Abnormality of female internal genitalia Ureteropelvic junction obstruction Cavernous hemangioma Tethered cord Supernumerary ribs Abnormal sacrum morphology Abnormality of the nasopharynx Laryngeal stenosis Vertebral clefting Abnormality of the intervertebral disk Esophageal atresia Asymmetric crying face Akinesia Dyskinesia Recurrent respiratory infections Neoplasm Atrioventricular canal defect Patent urachus Abnormal tracheobronchial morphology Abnormality of the urethra Perineal fistula Potter facies Abnormality of the gallbladder Hemifacial hypoplasia Absence of the sacrum Anorectal anomaly Aplasia/Hypoplasia of the lungs Anencephaly Omphalocele Spina bifida Laryngomalacia Hypoplasia of the radius Tachypnea Abnormality of the outer ear Multicystic kidney dysplasia Hemivertebrae Preauricular skin tag Radioulnar synostosis Abnormal vertebral morphology Short thumb Large fontanelles Renal dysplasia Recurrent urinary tract infections Abnormality of the genital system Hypocalcemia Triphalangeal thumb Aplasia/Hypoplasia of the radius Vertebral segmentation defect Absent radius Wheezing Occipital encephalocele Transposition of the great arteries Abnormality of the sternum Non-midline cleft lip Hypoplastic left heart Bifid scrotum Right bundle branch block Bundle branch block Ectopic kidney Preaxial hand polydactyly Tracheoesophageal fistula Unilateral renal agenesis Pointed chin Clinodactyly of the 5th finger Abnormality of the nail Cutis laxa Wide mouth Short philtrum Synophrys Cirrhosis Thin vermilion border Triangular face Abnormal bleeding Asthma Coarctation of aorta Telangiectasia Wide anterior fontanel Decreased liver function Hydrops fetalis Deep philtrum Splenomegaly Poor suck Patent foramen ovale Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Increased serum bile acid concentration Abnormality of glutamine metabolism Seizures Ataxia Nystagmus Optic atrophy Hepatosplenomegaly Depressed nasal bridge Headache Acidosis Proteinuria Abnormality of the nervous system Cerebellar vermis hypoplasia Abnormality of retinal pigmentation Retinal dysplasia Congenital hepatic fibrosis Chorioretinal degeneration Hyposthenuria Multiple small medullary renal cysts Tubular basement membrane disintegration Cone-shaped epiphysis Enuresis Aplasia of the bladder Respiratory failure Metabolic acidosis Abnormal facial shape Polycystic kidney dysplasia Nephritis Hyperkalemia Enlarged kidney Elevated serum creatinine Tubulointerstitial nephritis Cholestatic liver disease Portal fibrosis Pulmonary insufficiency Oliguria Renal cortical microcysts Absence of renal corticomedullary differentiation Chronic tubulointerstitial nephritis Hyperkalemic metabolic acidosis Diarrhea Visual loss Cafe-au-lait spot Cleft lip Fatigue Intellectual disability, severe Abnormality of the dentition Short nose Long philtrum Delayed skeletal maturation Alopecia Severe short stature Upslanted palpebral fissure Micropenis Hypothyroidism Elevated hepatic transaminase Joint laxity Dilated cardiomyopathy Muscular hypotonia Hypotrichosis Malabsorption Hepatic failure Downturned corners of mouth Single transverse palmar crease Delayed eruption of teeth Hypoplasia of the maxilla Abdominal distention Generalized muscle weakness Underdeveloped nasal alae Growth hormone deficiency Convex nasal ridge Microdontia Sparse scalp hair Cognitive impairment Strabismus Arrhythmia Cardiac arrest Gastroesophageal reflux Hypoglycemia Pallor Stroke Lethargy Paresthesia Retinal dystrophy Polyneuropathy Neutropenia Aciduria Abnormality of the skin Amenorrhea Bilateral sensorineural hearing impairment Anorexia Hoarse voice Generalized hypotonia Aminoaciduria Cone/cone-rod dystrophy Polycystic ovaries Myelodysplasia Hyperglycemia Secondary amenorrhea Macrocytic anemia Megaloblastic anemia Abdominal situs inversus Abnormality of the basal ganglia Sideroblastic anemia Progressive peripheral neuropathy Paroxysmal atrial tachycardia Thiamine-responsive megaloblastic anemia Ciliary dyskinesia



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