Breast carcinoma, and Situs inversus totalis

Diseases related with Breast carcinoma and Situs inversus totalis

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


Top matches:

Medium match CARPENTER SYNDROME


Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER 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 APOCRINE GLAND SECRETION, VARIATION IN


APOCRINE GLAND SECRETION, VARIATION IN Is also known as cerumen, variation in|wet wax|ww|colostrum secretion, variation in|ear wax, wet/dry|axillary odor, variation in|ewwd

Related symptoms:

  • Neoplasm
  • Breast carcinoma
  • Abnormality of the ear


SOURCES: OMIM MENDELIAN

More info about APOCRINE GLAND SECRETION, VARIATION IN

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Other less relevant matches:

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 MEACHAM SYNDROME


Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.

MEACHAM SYNDROME Is also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome|meacham-winn-culler syndrome

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Ventricular septal defect
  • Atrial septal defect
  • Hernia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEACHAM SYNDROME

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 Breast carcinoma and Situs inversus totalis

Symptoms // Phenotype % cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Dextrocardia Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Transposition of the great arteries Neoplasm Ciliary dyskinesia Dyskinesia Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases


Hypoplastic nipples Intrauterine growth retardation Abnormal vagina morphology Micropenis Upslanted palpebral fissure Patent ductus arteriosus Recurrent respiratory infections Septate vagina Intellectual disability Hernia Global developmental delay Sensorineural hearing impairment Hypoplasia of penis Abnormal cardiac septum morphology Cafe-au-lait spot Convex nasal ridge Calvarial skull defect Abnormal hair pattern Hypoproteinemia Rectovaginal fistula Abnormality of the pancreas Hypocalcemia Microdontia Growth hormone deficiency Abnormality of the nail Lacrimation abnormality Underdeveloped nasal alae Pointed chin Aplasia cutis congenita of scalp Skin dimples Frontal upsweep of hair Uterus didelphys Intestinal malrotation Fair hair Exocrine pancreatic insufficiency Severe muscular hypotonia Congenital sensorineural hearing impairment Widely spaced teeth Cholestasis Oligodontia Abnormality of the genitourinary system Portal hypertension Colonic diverticula Clitoral hypertrophy Hydroureter Anal stenosis Steatorrhea Agenesis of permanent teeth Glycosuria Anteriorly placed anus Hypopituitarism Sparse scalp hair Facial cleft Hyperbilirubinemia Abnormality of the nares Midline skin dimples over anterior/posterior fontanelles Increased VLDL cholesterol concentration Cerebellar vermis hypoplasia Diffuse mesangial sclerosis Conotruncal defect Hydrometrocolpos Crossed fused renal ectopia Abnormality of the fallopian tube Pulmonary sequestration Akinesia Abnormality of the kidney Retinal degeneration Polycystic kidney dysplasia Anomalous pulmonary venous return Nephronophthisis Congenital blindness Respiratory distress Respiratory tract infection Infertility Bronchiectasis Neonatal respiratory distress Immotile cilia Abnormality of the respiratory system Abdominal situs inversus Aplasia of the uterus Vaginal atresia Absent lacrimal punctum Tetralogy of Fallot Anasarca Malrotation of small bowel Abnormality of the female genitalia Urethrovaginal fistula Hypoplasia of the primary teeth Abdominal distention Abnormality of the ear Atrioventricular canal defect Ovarian neoplasm Ambiguous genitalia Abnormality of the spleen Congenital diaphragmatic hernia Coarctation of aorta Abnormality of the genital system Aortic valve stenosis Horseshoe kidney Nephroblastoma Hypoplastic left heart Abnormal lung lobation Aplasia/Hypoplasia of the lungs Sex reversal Generalized muscle weakness Small for gestational age Hypoplasia of the maxilla Broad thumb Pectus carinatum Finger syndactyly Toe syndactyly Genu valgum Postaxial polydactyly Highly arched eyebrow Webbed neck Wide intermamillary distance Postaxial hand polydactyly Sparse and thin eyebrow Protruding ear Narrow palate Coxa vara Cutis laxa Preaxial polydactyly Trigonocephaly Bilateral cryptorchidism Supernumerary nipple External genital hypoplasia Cutaneous finger syndactyly Shawl scrotum Craniosynostosis Camptodactyly Abnormality of the skull Talipes equinovarus Hypertelorism Abnormal facial shape Low-set ears High palate Depressed nasal bridge Epicanthus Brachydactyly Wide nasal bridge Frontal bossing Abnormality of the skeletal system Anteverted nares Umbilical hernia Short neck Syndactyly Midface retrusion Obesity Pectus excavatum Clinodactyly Brachycephaly Polydactyly Kyphoscoliosis Retrognathia Turricephaly Polysplenia Delayed eruption of teeth Hydronephrosis Dilatation Hypospadias Delayed skeletal maturation Clinodactyly of the 5th finger Alopecia Severe short stature Diabetes mellitus Hypothyroidism Elevated hepatic transaminase Joint laxity Short nose Cleft lip Postnatal growth retardation Abnormality of the liver Dilated cardiomyopathy Hypotrichosis Malabsorption Anal atresia Hepatic failure Downturned corners of mouth Single transverse palmar crease Long philtrum Abnormality of the dentition Preaxial foot polydactyly Microcephaly Cloverleaf skull Oxycephaly Abnormal cornea morphology Diaphragmatic eventration Narrow naris Aplasia of the middle phalanx of the hand Abnormal reproductive system morphology Short stature Generalized hypotonia Hearing impairment Growth delay Intellectual disability, severe Failure to thrive Strabismus Muscular hypotonia Cognitive impairment Anemia Hypertension Hepatomegaly Fatigue Cardiomyopathy Edema Heterotaxy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Sparse hair, related diseases and genetic alterations Wide nasal bridge and High myopia, related diseases and genetic alterations Brachydactyly and Hypoglycemia, related diseases and genetic alterations Cryptorchidism and Systemic lupus erythematosus, related diseases and genetic alterations

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