Immunodeficiency, and Situs inversus totalis

Diseases related with Immunodeficiency and Situs inversus totalis

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

Top matches:

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Dyskinesia
  • Neutropenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO CSF3R DEFICIENCY

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

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

Other less relevant matches:

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

Primary ciliary dyskinesia-35 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 35; CILD35 Is also known as ciliary dyskinesia, primary, 35, with or without situs inversus

Related symptoms:

  • Pneumonia
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough
  • Dyskinesia


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 35; CILD35

Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by Wallmeier et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.

CILIARY DYSKINESIA, PRIMARY, 29; CILD29 Is also known as ciliary dyskinesia, primary, 29, without situs inversus

Related symptoms:

  • Recurrent respiratory infections
  • Respiratory tract infection
  • Infertility
  • Dyskinesia
  • Otitis media


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 29; CILD29

Related symptoms:

  • Recurrent respiratory infections
  • Respiratory tract infection
  • Dyskinesia
  • Bronchiectasis
  • Sinusitis


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 6; CILD6

Primary ciliary dyskinesia-21 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by Wirschell et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 21; CILD21 Is also known as ciliary dyskinesia, primary, 21, without situs inversus

Related symptoms:

  • Respiratory distress
  • Pneumonia
  • Dyskinesia
  • Otitis media
  • Recurrent otitis media


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 21; CILD21

Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Renal insufficiency
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 20; NPHP20

Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 17; CILD17 Is also known as ciliary dyskinesia, primary, 17, with or without situs inversus

Related symptoms:

  • Respiratory distress
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Paralysis
  • Cough


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 17; CILD17

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

Symptoms // Phenotype % cases
Dyskinesia Common - Between 50% and 80% cases
Ciliary dyskinesia Common - Between 50% and 80% cases
Recurrent respiratory infections Common - Between 50% and 80% cases
Bronchiectasis Common - Between 50% and 80% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Sinusitis Pneumonia Chronic sinusitis Respiratory distress

Rare Symptoms - Less than 30% cases

Recurrent pneumonia Recurrent otitis media Otitis media Chronic rhinitis Immotile cilia Neonatal respiratory distress Infertility Atelectasis Recurrent infections Recurrent lower respiratory tract infections Cough Dextrocardia Abnormal respiratory motile cilium morphology Abnormal facial shape Cutaneous finger syndactyly Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Hypothermia Amelogenesis imperfecta Protruding tongue Recurrent sinusitis Bronchitis Frontal balding Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Tubulointerstitial nephritis Ventricular fibrillation Obsessive-compulsive behavior Renal fibrosis Patent foramen ovale Mixed hearing impairment Atrioventricular dissociation Abnormality of dental color Optic nerve hypoplasia Absent outer dynein arms Abnormal ciliary motility Absent/shortened outer dynein arms Productive cough Nasal polyposis Short stature Rhinitis Scoliosis Renal insufficiency T-wave alternans Rod-cone dystrophy Polydactyly Stage 5 chronic kidney disease Renal cyst Akinesia Nephritis Nephronophthisis Abnormal direction of ventricular apex Atrioventricular block Hypocalcemia Ventricular arrhythmia Wide nasal bridge Arrhythmia Patent ductus arteriosus Encephalopathy Depressivity Abnormality of cardiovascular system morphology Syndactyly Behavioral abnormality Abnormality of the dentition Myopathy Ventricular septal defect Dysphagia Myopia Depressed nasal bridge Constipation Cognitive impairment Low-set ears Muscular hypotonia Hypertelorism Generalized hypotonia Global developmental delay Seizures Intellectual disability Congenital neutropenia Myelodysplasia Aspiration Recurrent urinary tract infections Neutropenia Abnormal heart morphology Prominent forehead Cutaneous syndactyly Syncope Ventricular tachycardia Abnormality of dental enamel Cardiac arrest Bradycardia Hypoplasia of dental enamel Abnormality of the face Pulmonary arterial hypertension Cardiomegaly Tetralogy of Fallot Microdontia Esotropia Round face Sudden cardiac death Autism Hypoplasia of the maxilla Coma Joint hypermobility Toe syndactyly Carious teeth Hip dislocation Abnormal cardiac septum morphology Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Thin upper lip vermilion Gastroesophageal reflux Hypothyroidism Paralysis


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