Arthritis, and Situs inversus totalis

Diseases related with Arthritis and Situs inversus totalis

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


Top matches:

Medium match CRANIO-OSTEOARTHROPATHY


Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

CRANIO-OSTEOARTHROPATHY Is also known as sdam|currarino idiopathic osteoarthropathy|currarino disease|reginato-schiapachasse syndrome

Related symptoms:

  • Ventricular septal defect
  • Headache
  • Patent ductus arteriosus
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIO-OSTEOARTHROPATHY

Low match FAMILIAL CONGENITAL MIRROR MOVEMENTS


FAMILIAL CONGENITAL MIRROR MOVEMENTS Is also known as hereditary congenital controlateral synkinesia|isolated congenital controlateral synkinesia|hereditary congenital mirror movements|isolated congenital mirror movements|familial congenital controlateral synkinesia

Related symptoms:

  • Pain
  • Intellectual disability, mild
  • Agenesis of corpus callosum
  • Myalgia
  • Abnormality of movement


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL CONGENITAL MIRROR MOVEMENTS

Low match SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4


Related symptoms:

  • Short stature
  • Hydrocephalus
  • Pectus excavatum
  • Talipes
  • Situs inversus totalis


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4

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Other less relevant matches:

Low match FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A


Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (OMIM ). CFEOM2 (OMIM ) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008).Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (OMIM ), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (OMIM ), which maps to chromosome 13q.

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A Is also known as feom3 locus

Related symptoms:

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: OMIM MESH MENDELIAN

More info about FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

Low match IVEMARK SYNDROME


Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK SYNDROME

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 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

Low match NEPHRONOPHTHISIS 14; NPHP14


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

Low match CILIARY DYSKINESIA, PRIMARY, 32; CILD32


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

Low match SITUS INVERSUS TOTALIS


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 Arthritis and Situs inversus totalis

Symptoms // Phenotype % cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Dextrocardia Uncommon - Between 30% and 50% cases
Dyskinesia Uncommon - Between 30% and 50% cases
Ciliary dyskinesia Uncommon - Between 30% and 50% cases
Agenesis of corpus callosum Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Abnormal cardiac septum morphology Atrioventricular canal defect Neurogenic bladder Abdominal situs inversus Heterotaxy Abnormality of movement Specific learning disability Recurrent respiratory infections Abnormality of cardiovascular system morphology Spina bifida occulta Transposition of the great arteries Intrauterine growth retardation Flexion contracture Talipes Anal atresia Spina bifida Esotropia Restrictive external ophthalmoplegia Abnormality of the odontoid process Sensory exotropia Unilateral vertebral artery hypoplasia Global developmental delay Strabismus Nonprogressive restrictive external ophthalmoplegia Levator palpebrae superioris atrophy Ptosis Superior rectus atrophy Compensatory chin elevation Corneal scarring Congenital fibrosis of extraocular muscles Amblyopia Peripheral axonal neuropathy Wrist flexion contracture Camptodactyly of finger Peripheral neuropathy Facial palsy Scarring External ophthalmoplegia Joint contracture of the hand Exotropia Growth delay Ophthalmoplegia Ambiguous genitalia Hypertelorism Bilateral trilobed lungs Immotile cilia Neonatal respiratory distress Bronchiectasis Infertility Respiratory tract infection Respiratory distress Congenital blindness Nephronophthisis Polycystic kidney dysplasia Cerebellar vermis hypoplasia Retinal degeneration Abnormality of the kidney Akinesia Right atrial isomerism Left atrial isomerism Low-set ears Single ventricle Common atrium Biliary atresia Total anomalous pulmonary venous return Anomalous pulmonary venous return Complete atrioventricular canal defect Pulmonary artery atresia Asplenia Choanal stenosis Polysplenia Abnormal lung lobation Restrictive deficit on pulmonary function testing Pulmonic stenosis Congestive heart failure Block vertebrae Short thorax Rib fusion Abnormality of tibia morphology Syringomyelia Lipoma Abnormality of the skull Meningocele Maternal diabetes Chronic constipation Abnormal cortical bone morphology Hyperostosis Abnormality of the knee Urinary retention Deviation of finger Teratoma Bladder exstrophy Spinal deformities Joint swelling Tracheoesophageal fistula Mottled pigmentation Urinary incontinence Patent ductus arteriosus Constipation Diabetes mellitus Arthralgia Joint stiffness Eczema Back pain Osteoarthritis Omphalocele Large fontanelles Meningitis Type I diabetes mellitus Holoprosencephaly Abnormality of the genitourinary system Lower limb undergrowth Cyclopia 11 pairs of ribs Short stature Easy fatigability Fused cervical vertebrae Poor fine motor coordination Bimanual synkinesia Abnormality of the corticospinal tract Dysgenesis of the hippocampus Hydrocephalus Hypogonadotrophic hypogonadism Pectus excavatum Hemivertebrae Headache Restrictive ventilatory defect Missing ribs Myelomeningocele Cerebral palsy Clumsiness Clubbing of toes Sacral meningocele Absence of the sacrum Rectal abscess Exstrophy Dermoid cyst Sirenomelia Sacral lipoma Rectal fistula Myalgia Cloacal exstrophy Hemisacrum Anterior sacral meningocele Presacral teratoma Hydromyelia Pain Intellectual disability, mild Abnormality of the respiratory system



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