Carcinoma, and Situs inversus totalis

Diseases related with Carcinoma and Situs inversus totalis

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


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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 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 HYPERPARATHYROIDISM 1; HRPT1


Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015). Genetic Heterogeneity of Familial HyperparathyroidismHyperparathyroidism-2 with jaw tumors (HRPT2 ), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3 ) has been mapped to chromosome 2p14-p13.3. HRPT4 (OMIM ) is caused by mutation in the GCM2 gene (OMIM ) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT ) is caused by mutation in the CASR gene (OMIM ) on chromosome 3q.Familial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).Familial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism.

HYPERPARATHYROIDISM 1; HRPT1 Is also known as fihp|hyperparathyroidism, familial isolated primary

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Osteopenia
  • Carcinoma
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM 1; HRPT1

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Other less relevant matches:

Low match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Low match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Low match TYROSINEMIA TYPE 1


Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.

TYROSINEMIA TYPE 1 Is also known as hepatorenal tyrosinemia|fumarylacetoacetase deficiency|fah deficiency|fumarylacetoacetate hydrolase deficiency|tyrosinemia type i

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about TYROSINEMIA TYPE 1

Low match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Low match CARNEY COMPLEX, TYPE 1; CNC1


Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

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

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Hepatic failure Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Osteoporosis Cirrhosis Abnormality of the liver Elevated hepatic transaminase Congestive heart failure Muscle weakness Acute hepatic failure Failure to thrive Growth delay Seizures Hepatomegaly

Rare Symptoms - Less than 30% cases


Abnormality of cardiovascular system morphology Nephrocalcinosis Cryptorchidism Pheochromocytoma Ascites Dilated cardiomyopathy Fatigue Hepatocellular carcinoma Ventricular septal defect Ataxia Neoplasm of the liver Alopecia Depressed nasal bridge Abnormal heart morphology Ventricular hypertrophy Aciduria Peripheral neuropathy Anteverted nares Nephroblastoma Confusion Renal insufficiency Stroke Irritability Vomiting Thin upper lip vermilion Splenomegaly Anemia Hypoglycemia Proximal muscle weakness Myalgia Neurofibromas Hypertrophic cardiomyopathy Headache Constipation Diabetes mellitus Arthralgia Arthritis Hernia Scarring Hepatic fibrosis Transposition of the great arteries Intellectual disability, mild Cardiomegaly Increased circulating cortisol level Patent ductus arteriosus Dermal atrophy Flexion contracture Dysphagia Hypoalbuminemia Ectropion Joint contracture of the hand Syndactyly Visual loss Hypoplasia of dental enamel Narrow mouth Pruritus Nail dystrophy Carious teeth Toe syndactyly Delayed puberty Nail dysplasia Cataract Neoplasm of the skin Conjunctivitis Abnormal blistering of the skin Progressive visual loss Hypoplastic left heart Episodic peripheral neuropathy Ketotic hypoglycemia Abnormal bleeding Paralysis Jaundice Hepatosplenomegaly Dilatation Hypertonia Diarrhea Periportal fibrosis Peripheral demyelination Micronodular cirrhosis Skeletal myopathy Recurrent corneal erosions Ketosis Recurrent sinusitis Progressive hearing impairment Hyperlipidemia Sinusitis Gastrointestinal hemorrhage Glomerulosclerosis Rickets of the lower limbs Abnormality of the abdominal wall Paralytic ileus Elevated urinary delta-aminolevulinic acid Hepatic necrosis Hypermethioninemia Elevated alpha-fetoprotein Renal Fanconi syndrome Squamous cell carcinoma Pancreatic islet-cell hyperplasia Generalized aminoaciduria Rickets Periodic paralysis Ileus Hypophosphatemic rickets Renal tubular dysfunction Self-mutilation Enlarged kidney Axonal degeneration Abnormality of coagulation Hypertyrosinemia Fragile skin Malnutrition Tall stature Hypermelanotic macule Heart murmur Precocious puberty Sarcoma Ischemic stroke Hemangioma Increased body weight Gynecomastia Cafe-au-lait spot Palpitations Freckling Abnormality of the skin Nevus Hirsutism Papule Abnormality of the eye Dyspnea Weight loss Respiratory distress Fever Macule Striae distensae Elevated transferrin saturation Fibroma Myxoid subcutaneous tumors Thyroid follicular hyperplasia Profuse pigmented skin lesions Cardiac myxoma Uterine leiomyoma Follicular thyroid carcinoma Follicular hyperplasia Testicular neoplasm Pituitary prolactin cell adenoma Multiple lentigines Growth hormone excess Red hair Schwannoma Paraganglioma Thyroid carcinoma Generalized hypopigmentation Pituitary adenoma Macroorchidism Blue irides Bipolar affective disorder Hypertension Aceruloplasminemia Milia Absent toenail Arrhythmia Recurrent infections Spontaneous esophageal perforation Mitten deformity Esophageal stenosis Loss of eyelashes Refractory anemia Absent fingernail Abnormality of the anus Scarring alopecia of scalp Abdominal pain Corneal scarring Esophageal stricture Ankyloglossia Squamous cell carcinoma of the skin Corneal erosion Atypical scarring of skin Blepharitis Skin vesicle Atrophic scars Hypogonadism Hepatic steatosis Constrictive pericarditis Pericarditis Cholangiocarcinoma Increased serum iron Microvesicular hepatic steatosis Abnormal glucose tolerance Alcoholism Testicular atrophy Restrictive cardiomyopathy Increased reactive oxygen species production Increased serum ferritin Osteomalacia Amenorrhea Arthropathy Abnormal joint morphology Impotence Pleural effusion Azoospermia Hypogonadotrophic hypogonadism Insulin resistance Hyperpigmentation of the skin Telangiectasia Hepatitis Decreased liver function Elevated serum creatine phosphokinase Progressive muscle weakness Absence of the sacrum Rectal fistula Sacral meningocele Sacral lipoma Sirenomelia Dermoid cyst Exstrophy Rectal abscess Clubbing of toes Hemisacrum Cyclopia Mottled pigmentation Lower limb undergrowth Spinal deformities Bladder exstrophy Teratoma Deviation of finger Urinary retention Cloacal exstrophy Anterior sacral meningocele Neurogenic bladder Hypercalcemia Parathyroid adenoma Primary hyperparathyroidism Generalized osteoporosis Elevated circulating parathyroid hormone level Hyperphosphaturia Neoplasm of the endocrine system Hyperparathyroidism Hypophosphatemia Polycystic kidney dysplasia Presacral teratoma Hypercalciuria Breast carcinoma Nephrolithiasis Left ventricular hypertrophy Recurrent fractures Abnormality of the kidney Horseshoe kidney Hydromyelia Abnormality of the knee Abnormal cortical bone morphology Carcinoid tumor Conotruncal defect Talipes Joint stiffness Pulmonary sequestration Septate vagina Abnormality of the fallopian tube Crossed fused renal ectopia Hydrometrocolpos Diffuse mesangial sclerosis Urinary incontinence Aplasia of the uterus Abnormal vagina morphology Anomalous pulmonary venous return Vaginal atresia Abnormality of the spleen Sex reversal Aplasia/Hypoplasia of the lungs Abnormal lung lobation Anal atresia Eczema Abnormality of tibia morphology Tracheoesophageal fistula Chronic constipation Maternal diabetes Meningocele Abnormality of the skull Lipoma Syringomyelia Joint swelling Hyperostosis Back pain Osteoarthritis Abnormality of the genitourinary system Holoprosencephaly Spina bifida occulta Type I diabetes mellitus Meningitis Spina bifida Large fontanelles Omphalocele Peptic ulcer Retinoblastoma Hypertriglyceridemia Episodic vomiting Hyperglutaminemia Protein avoidance Hypoargininemia Respiratory alkalosis Oroticaciduria Paranoia Wide nasal base Cerebral edema Low plasma citrulline Episodic ataxia Alkalosis Congenital diaphragmatic hernia Hyperammonemia Pancreatitis Thick lower lip vermilion Gliosis Coma Episodic ammonia intoxication Short stature Coarctation of aorta Obesity Epistaxis Otitis media Full cheeks Broad nasal tip Distal amyotrophy Thin vermilion border Atrial septal defect Deeply set eye Midface retrusion Generalized hypotonia Immunodeficiency Malar flattening Myopathy Tetralogy of Fallot Skeletal muscle atrophy Ambiguous genitalia Hypoplasia of penis Hearing impairment Postaxial polydactyly Smooth philtrum Parathyroid hyperplasia Abnormality of the dentition Myelomeningocele Impaired pain sensation Multiple lipomas Skeletal muscle hypertrophy Bicuspid aortic valve Overgrowth Facial asymmetry Inguinal hernia Hydrocephalus Hemihypertrophy Scoliosis Polyarticular chondrocalcinosis Elevated alkaline phosphatase of bone origin Parathyroid carcinoma Calcium nephrolithiasis Abnormality of the parathyroid gland Mitral valve calcification Aortic valve calcification Communicating hydrocephalus Adrenocortical adenoma Lethargy Abnormality of the genital system Mental deterioration Polydactyly Encephalopathy Hypospadias Cerebral atrophy Edema Epicanthus Spasticity Aortic valve stenosis Asymmetric growth Global developmental delay Intellectual disability Hemiareflexia Hemifacial hypertrophy Leiomyosarcoma Embryonal neoplasm Hepatoblastoma Asymmetry of the thorax Cutaneous myxoma



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