Fever, and Situs inversus totalis

Diseases related with Fever and Situs inversus totalis

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

Top matches:

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.

Related symptoms:

  • Neoplasm
  • Pain
  • Fever


SOURCES: ORPHANET MENDELIAN

More info about INFLAMMATORY MYOFIBROBLASTIC TUMOR

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

Other less relevant matches:

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficie

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY

Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.

PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY Is also known as myd88 deficiency|pyogenic bacterial infections, recurrent, due to myd88 deficiency|recurrent pyogenic bacterial infections due to myd88 deficiency

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent bacterial skin infections


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY

Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

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

Related symptoms:

  • Abnormality of the kidney
  • Retinal degeneration
  • Cerebellar vermis hypoplasia
  • Situs inversus totalis
  • Polycystic kidney dysplasia


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 14; NPHP14

Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by Jeanson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 32; CILD32 Is also known as ciliary dyskinesia, primary, 32, without situs inversus

Related symptoms:

  • Respiratory distress
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Infertility
  • Dyskinesia


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 32; CILD32

Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

SITUS INVERSUS TOTALIS Is also known as complete situs inversus|complete situs inversus viscerum|situs inversus viscerum|siv|situs inversus

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology
  • Dyskinesia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SITUS INVERSUS TOTALIS

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

Symptoms // Phenotype % cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
Ciliary dyskinesia Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Dyskinesia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Recurrent respiratory infections Recurrent infections Atrial septal defect Abnormality of cardiovascular system morphology Dextrocardia Abnormal cardiac septum morphology Atrioventricular dissociation Abnormal direction of ventricular apex Neoplasm T-wave alternans Pain Abnormality of dental color Intellectual disability Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Hypothermia Amelogenesis imperfecta Protruding tongue Cutaneous finger syndactyly Bronchitis Mixed hearing impairment Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Ventricular fibrillation Frontal balding Peripheral neuropathy Atrioventricular canal defect Congenital blindness Abdominal situs inversus Abnormality of the respiratory system Transposition of the great arteries Intrauterine growth retardation Immotile cilia Neonatal respiratory distress Bronchiectasis Infertility Respiratory tract infection Respiratory distress Nephronophthisis Lymphadenopathy Polycystic kidney dysplasia Cerebellar vermis hypoplasia Retinal degeneration Abnormality of the kidney Akinesia Lower limb muscle weakness Skeletal muscle atrophy Patent foramen ovale Recurrent bacterial skin infections Abnormality of immune system physiology Obsessive-compulsive behavior Cutaneous syndactyly Atrioventricular block Abnormality of the dentition Hypothyroidism Autism Prominent forehead Pneumonia Constipation Arrhythmia Patent ductus arteriosus Encephalopathy Depressivity Syndactyly Behavioral abnormality Myopathy Thin upper lip vermilion Dysphagia Myopia Wide nasal bridge Depressed nasal bridge Cognitive impairment Low-set ears Muscular hypotonia Abnormal facial shape Hypertelorism Generalized hypotonia Global developmental delay Gastroesophageal reflux Hypoglycemia Optic nerve hypoplasia Cardiomegaly Ventricular arrhythmia Seizures Ventricular tachycardia Abnormality of dental enamel Hypocalcemia Cardiac arrest Bradycardia Sinusitis Hypoplasia of dental enamel Abnormality of the face Pulmonary arterial hypertension Tetralogy of Fallot Hypertrophic cardiomyopathy Microdontia Esotropia Round face Syncope Sudden cardiac death Hypoplasia of the maxilla Coma Joint hypermobility Toe syndactyly Carious teeth Hip dislocation Autistic behavior Heterotaxy


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