Carcinoma, and Acute leukemia

Diseases related with Carcinoma and Acute leukemia

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


Top matches:

High match LI-FRAUMENI SYNDROME


Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).

LI-FRAUMENI SYNDROME Is also known as sarcoma family syndrome of li and fraumeni|sbla syndrome

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Lymphoma
  • Neoplasm of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about LI-FRAUMENI SYNDROME

Medium match CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME


Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME Is also known as constitutional mismatch repair deficiency syndrome|mismatch repair deficiency|btps1|cmmr-d syndrome|mmr deficiency|childhood cancer syndrome|btp1 syndrome|cmmrds|turcot syndrome|brain tumor-polyposis syndrome 1

Related symptoms:

  • Neoplasm
  • Agenesis of corpus callosum
  • Carcinoma
  • Leukemia
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Medium match SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Medium match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Medium match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Medium match SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS


Sessile serrated polyposis cancer syndrome (SSPCS) is a rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. SSPCS is defined by the World Health Organization (WHO) as the presence of at least 5 sessile serrated polyps (also known as 'sessile serrated adenomas,' or SSAs) proximal to the sigmoid colon, with 2 or more that are greater than 10 mm in diameter; or any number of serrated polyps in a person with a first-degree relative with SSPCS; or more than 20 serrated polyps of any size, distributed throughout the colon. SSAs are found in 2% of average-risk individuals undergoing their first screening colonoscopy, and are estimated to be responsible for 20 to 35% of all colon cancers. SSAs exhibit somatic mutations in the BRAF gene (OMIM ), or less commonly in the KRAS gene (OMIM ), early in their development. Individuals with SSPCS have a lifetime risk of colon cancer as high as 54% and may have a strong personal or family history of extracolonic cancers; first-degree relatives have a 32% risk of developing multiple serrated polyps and a 5-fold increased risk of colon cancer. An increased risk of pancreatic cancer has also been observed (summary by Gala et al., 2014).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Breast carcinoma
  • Colon cancer


SOURCES: OMIM MENDELIAN

More info about SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS

Medium match LUNG CANCER


Lung cancer is the leading cause of cancer deaths in the U.S. and worldwide. The 2 major forms of lung cancer are nonsmall cell lung cancer and small cell lung cancer (see {182280}), which account for 85% and 15% of all lung cancers, respectively. Nonsmall cell lung cancer can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. Cigarette smoking causes all types of lung cancer, but it is most strongly linked with small cell lung cancer and squamous cell carcinoma. Adenocarcinoma is the most common type in patients who have never smoked. Nonsmall cell lung cancer is often diagnosed at an advanced stage and has a poor prognosis (summary by Herbst et al., 2008).

Related symptoms:

  • Neoplasm
  • Pain
  • Fatigue
  • Respiratory distress
  • Diarrhea


SOURCES: OMIM MENDELIAN

More info about LUNG CANCER

Top 5 symptoms//phenotypes associated to Carcinoma and Acute leukemia

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Leukemia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Lymphoma Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Carcinoma and Acute leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Hodgkin lymphoma Cataract Nystagmus Microcephaly Global developmental delay Anemia Chromosome breakage Seizures Short stature Scoliosis Ataxia Multiple cafe-au-lait spots Cafe-au-lait spot Failure to thrive Acute myeloid leukemia Telangiectasia Sarcoma Breast carcinoma Acute lymphoblastic leukemia Squamous cell carcinoma Headache Nephroblastoma Frontal bossing Abnormal facial shape Respiratory distress Pain Myelodysplasia Visual impairment Hydrocephalus Myeloid leukemia Pancytopenia Astrocytoma Generalized hypotonia Atrial septal defect Colon cancer Abnormal vertebral morphology Abnormality of the kidney Weight loss Ventriculomegaly Hypertelorism Cryptorchidism Abnormality of skin pigmentation High palate Immunodeficiency Hypopigmentation of the skin

Rare Symptoms - Less than 30% cases


Abnormal cerebellum morphology Acute monocytic leukemia Overgrowth Hypospadias Hypothyroidism Patent ductus arteriosus Abnormal heart morphology Thrombocytopenia Diarrhea Abnormality of the uterus Diabetes mellitus Apraxia Muscle weakness Truncal ataxia Hypopigmented skin patches Lymphopenia Recurrent infections Tremor Skeletal muscle atrophy Respiratory tract infection Cranial nerve paralysis Dolichocephaly Cognitive impairment Abnormality of the liver Intrauterine growth retardation Intention tremor Renal agenesis Fatigue Glucose intolerance Hamartomatous polyposis Premature graying of hair Joint hypermobility Arteriovenous malformation Small cell lung carcinoma Growth delay Pes planus Renal neoplasm Cellulitis Lung adenocarcinoma Neuroblastoma Increased intracranial pressure Multiple lipomas Neurofibromas Hyperreflexia Leukopenia Heterotopia Sepsis Neutropenia Delayed speech and language development Decreased proportion of CD4-positive T cells Soft tissue sarcoma Bone marrow hypocellularity Rhabdomyosarcoma Prostate cancer Medulloblastoma Brain neoplasm Osteosarcoma Mucosal telangiectasiae Neoplasm of the pancreas Aplastic anemia Neoplasm of the lung Melanoma Neoplasm of the skin Horseshoe kidney Abnormality of chromosome stability Intestinal polyposis Oligohydramnios Postnatal growth retardation Small for gestational age Proptosis Sloping forehead B-cell lymphoma Abnormality of the testis Micrognathia Cleft palate Downslanted palpebral fissures Cellular immunodeficiency Gray matter heterotopias Decreased antibody level in blood Intestinal polyp Neoplasm of the central nervous system Colorectal polyposis Glioblastoma multiforme Macrocephaly Optic atrophy Skin tags Bone cyst Megalencephaly Ovarian cyst Prolactin excess Renal cell carcinoma Abnormality of the vasculature Hashimoto thyroiditis Meningioma Papilledema Scaphocephaly Lipoma Long penis Enlarged polycystic ovaries Hydrocele testis Furrowed tongue Cavernous hemangioma Papule Thyroiditis Fragile teeth Dilatation Kyphosis Intellectual disability, mild Myopathy Myopia Brachydactyly Motor delay Low-set ears Anal mucosal leukoplakia Pterygium of nails Split nail Generalized hypopigmentation of hair Brittle scalp hair Autism Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Pancreatic adenocarcinoma Reticular hyperpigmentation Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Testicular atrophy Ridged nail Pectus excavatum Narrow mouth Ovarian neoplasm Goiter Hyperthyroidism Hamartoma Cystic hygroma Abnormality of the thyroid gland Macule Cutis marmorata Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Hemangioma Proximal muscle weakness Drooling Gynecomastia Exotropia Chronic diarrhea Subcutaneous nodule Broad thumb Macroglossia Hypoplasia of the maxilla Palmoplantar keratoderma Polymicrogyria Nausea and vomiting Fibroma Intellectual disability, moderate Papilloma Clinodactyly of the 5th finger Generalized hyperkeratosis Irregular hyperpigmentation Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the upper limb Abnormality of the ulna Abnormal eyelid morphology Hearing abnormality External ear malformation Aplasia/Hypoplasia of the radius Abnormal aortic morphology Absent radius Abnormality of blood and blood-forming tissues Absent thumb Hydroureter Ectopic kidney Hypoplasia of the ulna Tracheoesophageal fistula Triphalangeal thumb Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Renal hypoplasia/aplasia Reticulocytopenia Abnormality of nervous system morphology Type I diabetes mellitus Abnormal carotid artery morphology Alveolar cell carcinoma Hemoptysis Wheezing Chest pain Cough Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Almond-shaped palpebral fissure Primary hypothyroidism Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Azoospermia Hypergonadotropic hypogonadism Adenoma sebaceum Fibroadenoma of the breast Hepatomegaly Epicanthus Ptosis Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Neoplasm of the thyroid gland Abnormality of the skeletal system Transitional cell carcinoma of the bladder Acrokeratosis Pseudopapilledema Progressive macrocephaly Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Fever Congestive heart failure Spina bifida Abnormality of the foot Insulin resistance Short thumb Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Tetralogy of Fallot Bruising susceptibility Vertigo Astigmatism Anal atresia Facial asymmetry Toe syndactyly Renal insufficiency Hip dislocation Finger syndactyly Abnormal cardiac septum morphology Irritability Abnormality of the eye Hypertrophic cardiomyopathy Umbilical hernia Upslanted palpebral fissure Hypogonadism Severe short stature Blepharitis Abnormality of cardiovascular system morphology Microphthalmia Oral leukoplakia Poor coordination Premature loss of teeth Recurrent respiratory infections Abnormality of movement Abnormality of eye movement Delayed puberty Neurological speech impairment Distal muscle weakness Anxiety Elevated hepatic transaminase Difficulty walking Gait ataxia Myoclonus Pneumonia Distal amyotrophy Dystonia Cerebellar atrophy Gait disturbance Dysarthria Peripheral neuropathy Flexion contracture Spasticity Neuroblastic tumors Pineoblastoma Retinal calcification Unsteady gait Polyneuropathy Iris neovascularization Slurred speech IgA deficiency Prematurely aged appearance Abnormality of the immune system Telangiectasia of the skin Aplasia/Hypoplasia of the skin Resting tremor Combined immunodeficiency Athetosis Spinal muscular atrophy Polycystic ovaries Cerebral palsy Progressive cerebellar ataxia Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Abnormality of the hair Sinusitis Limb ataxia Bronchiectasis Choreoathetosis Type II diabetes mellitus Hepatitis Chorea Pinealoma Pineal cyst Hepatocellular carcinoma Hypermelanotic macule Adenocarcinoma of the colon Acute myelomonocytic leukemia Axillary freckling Ependymoma Lisch nodules Glioma Pituitary adenoma Abnormality of abdomen morphology Freckling Basal cell carcinoma Agenesis of corpus callosum Vomiting Prostate neoplasm Neoplasm of the adrenal cortex Neoplasm of the colon Impaired lymphocyte transformation with phytohemagglutinin Plethora Monoclonal immunoglobulin M proteinemia Neoplasm of the nervous system Adrenocortical carcinoma Stomach cancer Progressive encephalopathy Blindness Malar flattening Ewing sarcoma Leiomyosarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Burkitt lymphoma Fibrosarcoma Malar rash Leukocoria Anisocoria Visual loss Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Anemia of inadequate production Uveitis Anorexia Postural instability Skin rash Glaucoma Hypopigmentation of hair Severe combined immunodeficiency Generalized hyperpigmentation Teratoma Osteoporosis Cerebellar hypoplasia Alopecia Hyporeflexia Abnormality of the dentition Hypertonia Abnormality of the cerebral ventricles Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Overbite Cerebral cortical atrophy Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Cavum septum pellucidum Advanced eruption of teeth Long foot Enlarged cisterna magna High anterior hairline Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Hyperhidrosis Hepatosplenomegaly Precocious puberty Abnormal intestine morphology Restrictive ventilatory defect Increased antibody level in blood Abnormality of coagulation Pulmonary fibrosis Flared metaphysis Epiphora Neonatal respiratory distress Pterygium Dermal atrophy Anosmia Sparse eyelashes Muscular hypotonia of the trunk Conjunctivitis Hyperpigmentation of the skin Sparse scalp hair Decreased fetal movement Cerebral calcification Decreased testicular size Gastrointestinal hemorrhage Gliosis Cirrhosis Carious teeth Nail dystrophy Large hands Redundant skin Recurrent lower respiratory tract infections Female hypogonadism Ventricular septal defect Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Chronic hepatitis Prominent forehead Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Conjunctival telangiectasia Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Recurrent bronchitis Behavioral abnormality Mandibular prognathia Reduced number of teeth Small nail Cutis laxa Abnormal dermatoglyphics Accelerated skeletal maturation Narrow palate Pointed chin Narrow face Lymphedema Tall stature Hypoplasia of dental enamel Clumsiness Otitis media Macrotia Vesicoureteral reflux Hypodontia High, narrow palate Genu valgum Hypermetropia Joint laxity Aggressive behavior Conductive hearing impairment Neonatal hypotonia Jaundice Coarse facial features Non-small cell lung carcinoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Visual impairment and Delayed skeletal maturation, related diseases and genetic alterations Myopathy and Hip dysplasia, related diseases and genetic alterations Epicanthus and Progressive visual loss, related diseases and genetic alterations Low-set ears and Cleft upper lip, related diseases and genetic alterations Cardiomyopathy and Acidosis, related diseases and genetic alterations Muscular hypotonia and Renal agenesis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more