Breast carcinoma, and Gliosis

Diseases related with Breast carcinoma and Gliosis

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


Top matches:

Medium match LI-FRAUMENI SYNDROME 2; LFS2


Related symptoms:

  • Neoplasm
  • Breast carcinoma
  • Sarcoma
  • Meningioma
  • Stomach cancer


SOURCES: MESH OMIM MENDELIAN

More info about LI-FRAUMENI SYNDROME 2; LFS2

Medium match APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS


APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as apc-related afap|apc-related attenuated familial polyposis coli|apc-related attenuated fap

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

Medium match GARDNER SYNDROME


Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about GARDNER SYNDROME

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Other less relevant matches:

Medium match MAFFUCCI SYNDROME


Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.

MAFFUCCI SYNDROME Is also known as maffucci syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MAFFUCCI SYNDROME

Medium match LYNCH SYNDROME


LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Medium match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low 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

Low match FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1


Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Is also known as apc|familial polyposis of the colon|fpc|adenomatous polyposis of the colon|polyposis, adenomatous intestinal

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Low match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Top 5 symptoms//phenotypes associated to Breast carcinoma and Gliosis

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Sarcoma Uncommon - Between 30% and 50% cases
Astrocytoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Gliosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilatation Generalized hypotonia Global developmental delay Leukemia Kyphoscoliosis Neurofibromas Flexion contracture Visual impairment Carcinoma Hypertonia Micrognathia Ovarian neoplasm Depressivity Growth delay Hydrocephalus Macrocephaly Delayed speech and language development Meningioma Intestinal polyposis Glioma Short stature Hypertelorism Scoliosis

Rare Symptoms - Less than 30% cases


Agenesis of corpus callosum Deeply set eye Muscular hypotonia of the trunk Lymphoma Intellectual disability, mild Congenital cataract Headache Autism Osteoporosis Abnormal facial shape Pain Cognitive impairment Abnormal heart morphology Cerebellar hypoplasia Wide intermamillary distance Precocious puberty Cafe-au-lait spot Failure to thrive Multiple lipomas Cutis marmorata Melanoma Polymicrogyria Intellectual disability, moderate Kyphosis Intestinal polyp Colorectal polyposis Brachydactyly Low-set ears Cataract Hearing impairment Microphthalmia Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Neoplasm of the central nervous system Brain neoplasm Renal cell carcinoma Multiple cafe-au-lait spots Microcephaly Leiomyosarcoma Ventriculomegaly Incoordination Hypoplasia of the corpus callosum Neoplasm of the thyroid gland Overgrowth Cranial nerve paralysis Paresthesia Chondrosarcoma Gastrointestinal hemorrhage Recurrent fractures Parathyroid adenoma Pituitary adenoma Subcutaneous nodule Muscular hypotonia Nausea and vomiting Increased intracranial pressure Malabsorption Dysarthria Attention deficit hyperactivity disorder Bone pain Behavioral abnormality Goiter Hemangioma Weight loss Venous thrombosis Cerebral palsy Stomach cancer Anemia Colon cancer Ductal carcinoma in situ Chorioretinal atrophy Pseudopapilledema Mucosal telangiectasiae Thyroid carcinoma Increased circulating cortisol level Neoplasm of the lung Acrokeratosis Increased number of teeth Retrocerebellar cyst Retinal fold Transitional cell carcinoma of the bladder Agenesis of permanent teeth Intestinal obstruction Conjunctival hamartoma Hyperextensible skin Horseshoe kidney Hyperpigmentation of the skin Infertility Aplasia cutis congenita of scalp Carious teeth Abnormality of the dentition Lobular carcinoma in situ Periventricular leukomalacia Multiple trichilemmomata Trichilemmoma Merkel cell skin cancer Dysplastic gangliocytoma of the cerebellum Enlarged cerebellum Spasticity Progressive macrocephaly Prolactin excess Ovarian cyst Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Megalencephaly Skin tags Adactyly Cellular immunodeficiency Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Hodgkin lymphoma Thyroiditis Bone cyst Long penis Endometrial carcinoma Abnormality of the penis Follicular thyroid carcinoma Varicocele Thyroid adenoma Corpus callosum atrophy High-pitched cry Ovarian carcinoma Angioid streaks of the fundus Subcutaneous lipoma Cavernous hemangioma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Medulloblastoma Absent gallbladder Adrenocortical adenoma Short distal phalanx of finger Cutaneous photosensitivity Intellectual disability, profound Abnormality of the nervous system Protruding ear Sloping forehead Cerebral calcification Bulbous nose Peripheral demyelination Joint contracture of the hand Neuronal loss in central nervous system Prominent nose Delayed myelination Retinal detachment Neurodegeneration Hirsutism Thin vermilion border Short foot Insulin resistance Posteriorly rotated ears Muscular dystrophy Abnormality of the ear Strabismus Second metatarsal posteriorly placed Deep longitudinal plantar crease Epicanthus Long ear Miosis Osteopetrosis Rocker bottom foot Elbow flexion contracture Congenital muscular dystrophy Intrauterine growth retardation Optic atrophy Syndactyly Knee flexion contracture Cerebral atrophy Alopecia Coxa valga Arthrogryposis multiplex congenita Prominent nasal bridge Epidermoid cyst Abdominal mass Small intestine carcinoid Duodenal adenocarcinoma Odontoma Adenomatous colonic polyposis Unerupted tooth Aplasia cutis congenita Multiple gastric polyps Osteoma Short finger Cholangiocarcinoma Multiple impacted teeth Adrenocortical carcinoma Depressed nasal bridge Thoracic kyphoscoliosis Keloids Hepatoblastoma Papillary thyroid carcinoma Desmoid tumors Duodenal polyposis Single transverse palmar crease Long philtrum Blepharophimosis Hamartoma Camptodactyly Oligohydramnios Small nail Macrotia Blue sclerae Wide anterior fontanel Intellectual disability, severe Dermal atrophy Lymphedema Low anterior hairline Hyperreflexia Cryptorchidism Sensorineural hearing impairment Nystagmus Narrow palpebral fissure Congenital hypertrophy of retinal pigment epithelium Hyperthyroidism Myopathy Acute myeloid leukemia Glaucoma Pulmonic stenosis Pruritus Paralysis Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Osteopenia Hyperactivity Facial asymmetry Visual loss Abnormality of cardiovascular system morphology Blindness Cardiomyopathy Respiratory insufficiency Abnormality of the skeletal system Peripheral neuropathy Hypertension Genu valgum Peripheral axonal neuropathy Urinary tract neoplasm Atherosclerosis Freckling Tibial bowing Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Back pain Reduced bone mineral density Spina bifida Abnormality of skin pigmentation Sensorimotor neuropathy Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Abnormality of the cardiovascular system Tetralogy of Fallot Specific learning disability Ptosis Cardiac diverticulum Severe vision loss Neoplasm of the adrenal cortex Developmental regression Anxiety Abdominal pain Constipation Fatigue Gait disturbance Neoplasm of the parathyroid gland Hemangiomatosis Abnormal pyramidal sign Osteochondroma Multiple enchondromatosis Multiple exostoses Osteosarcoma Exostoses Pathologic fracture Osteolysis Dysphagia Irritability Neurological speech impairment Neoplasm of the rectum Prostate cancer Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Agnosia Glioblastoma multiforme Pancreatic adenocarcinoma Amaurosis fugax Dysgraphia Neoplasm of the pancreas Dyskinesia Hepatocellular carcinoma Neuroblastoma Visual field defect Basal cell carcinoma Hemiplegia/hemiparesis Hallucinations Memory impairment Migraine Osteomalacia Overweight Cellulitis Pectus excavatum Palmoplantar keratoderma Joint hypermobility Papule Abnormality of the kidney Proximal muscle weakness Hypothyroidism Narrow mouth Recurrent infections Abnormal cerebellum morphology Immunodeficiency Diarrhea Atrial septal defect Frontal bossing Tremor Downslanted palpebral fissures Skeletal muscle atrophy Myopia Hypoplasia of the maxilla Macroglossia High palate Hypopigmented skin patches Cystic hygroma Abnormality of the thyroid gland Macule Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Palmoplantar hyperkeratosis Drooling Decreased antibody level in blood Neoplasm of the skin Lymphopenia Gynecomastia Exotropia Chronic diarrhea Telangiectasia Broad thumb Intention tremor Motor delay Muscle weakness Increased reactive oxygen species production Carcinoid tumor Fibular bowing Gastrointestinal stroma tumor Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Nasolacrimal duct obstruction Rhabdomyosarcoma Paraganglioma Epigastric pain Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Aqueductal stenosis Myocardial fibrosis Neoplasm of the endocrine system Gangrene Dural ectasia Soft tissue sarcoma Ataxia Subcutaneous neurofibromas Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Optic nerve glioma Pseudoarthrosis Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Retinal nonattachment



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Downturned corners of mouth, related diseases and genetic alterations Wide nasal bridge and Arthrogryposis multiplex congenita, related diseases and genetic alterations Delayed speech and language development and Retinal detachment, related diseases and genetic alterations Cardiomyopathy and Apraxia, related diseases and genetic alterations

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