Breast carcinoma, and Hypopigmentation of the skin

Diseases related with Breast carcinoma and Hypopigmentation of the skin

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


Top matches:

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Low match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

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

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Other less relevant matches:

Low 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

Low match PEUTZ-JEGHERS SYNDROME


Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.

PEUTZ-JEGHERS SYNDROME Is also known as hamartomatous intestinal polyposis|polyps and spots syndrome|pjs

Related symptoms:

  • Neoplasm
  • Anemia
  • Vomiting
  • Abdominal pain
  • Gastrointestinal hemorrhage


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEUTZ-JEGHERS SYNDROME

Low match PEUTZ-JEGHERS SYNDROME; PJS


Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms.

PEUTZ-JEGHERS SYNDROME; PJS Is also known as polyps-and-spots syndrome|polyposis, hamartomatous intestinal

Related symptoms:

  • Neoplasm
  • Hypertension
  • Edema
  • Diarrhea
  • Headache


SOURCES: OMIM MENDELIAN

More info about PEUTZ-JEGHERS SYNDROME; PJS

Low match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Low 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 FAMILIAL MELANOMA


Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.

Related symptoms:

  • Retinopathy
  • Dry skin
  • Nevus
  • Abnormality of extrapyramidal motor function
  • Abnormality of the hair


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL MELANOMA

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

Top 5 symptoms//phenotypes associated to Breast carcinoma and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Ovarian neoplasm Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Renal cell carcinoma Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Carcinoma Meningioma Skeletal muscle atrophy Neoplasm of the small intestine Gastrointestinal carcinoma Pain Abnormality of the hair Leukemia Macule Intellectual disability Neoplasm of the lung Neoplasm of the breast Osteoporosis Headache Hypertelorism Failure to thrive Anemia Delayed speech and language development Dilatation Melanoma

Rare Symptoms - Less than 30% cases


Neoplasm of the oral cavity Premature arteriosclerosis Scoliosis Subcutaneous calcification Micrognathia Abnormal hair whorl Soft tissue sarcoma Seizures Lack of skin elasticity White forelock Prematurely aged appearance Premature graying of hair Decreased fertility Lipoatrophy Aplasia/Hypoplasia of the skin Telangiectasia of the skin Secondary amenorrhea Progeroid facial appearance Abnormality of the testis Renal neoplasm Osteosarcoma Abnormality of the cerebral vasculature Peripheral arterial stenosis Macrocephaly Chondrocalcinosis Pili torti Cognitive impairment Lymphoma Hydrocephalus Abnormality of the ureter Neoplasm of the central nervous system Intestinal polyp Neoplasm of the thyroid gland Abdominal pain Gastrointestinal hemorrhage Intestinal obstruction Rectal prolapse Enlarged polycystic ovaries Nasal polyposis Nevus Neoplasm of the pancreas Mitral valve prolapse Reduced bone mineral density Freckling Hamartomatous polyposis Global developmental delay Diarrhea Gynecomastia Intellectual disability, mild Autism Abnormality of the kidney Abnormality of the thorax Overgrowth Cafe-au-lait spot Neoplasm of the skin Ovarian cyst Hemangioma Incoordination Melanocytic nevus Multiple cafe-au-lait spots Hamartoma Astrocytoma Rocker bottom foot Intestinal polyposis Cataract Convex nasal ridge Narrow face Skin ulcer Peripheral neuropathy Abnormality of retinal pigmentation Decreased body weight Abnormal facial shape Type II diabetes mellitus Congestive heart failure Retinal degeneration Visual impairment Retinopathy Behavioral abnormality Alopecia Stomach cancer Hypogonadism Hearing impairment Diabetes mellitus Increased bone mineral density Hyperkeratosis Ovarian carcinoma Atherosclerosis Abnormality of the voice Laryngomalacia Sarcoma Abnormality of cardiovascular system morphology Glycosuria Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Blindness Progressive clavicular acroosteolysis Calf muscle hypertrophy Insulin-resistant diabetes mellitus Hyperglycemia Depressivity Premature ovarian insufficiency Visual loss Abnormal heart morphology Hyperactivity Hyperinsulinemia Sparse body hair Osteolytic defects of the phalanges of the hand Fragile nails Microcephaly Patchy hypo- and hyperpigmentation Sclerosis of hand bone Abnormality of circulating leptin level Ptosis Dysarthria Abnormality of the skeletal system Abnormality of the Achilles tendon Respiratory insufficiency Intervertebral disc degeneration Aortic valve calcification Generalized lipodystrophy Abnormal hair quantity Abnormality of the pulmonary artery Exercise-induced myalgia Prominent superficial veins Cardiomyopathy Fasting hyperinsulinemia Hepatic steatosis Finger clinodactyly Psoriasiform dermatitis Pancreatic cysts Multiple myeloma Clubbing of fingers Epicanthus Abnormality of the mouth Vitiligo Iron deficiency anemia Hypermelanotic macule Clubbing Polycystic kidney dysplasia Intestinal bleeding Growth abnormality Accelerated skeletal maturation Intrauterine growth retardation Abdominal distention Hyperhidrosis Edema Neoplasm of the nose Cervix cancer Abnormal pigmentation of the oral mucosa Biliary tract abnormality Hematemesis Aortic valve stenosis Hypotrichosis Thin skin Hypertriglyceridemia Growth delay Hip dysplasia Limitation of joint mobility Short palm Thin vermilion border Delayed puberty Congenital cataract Pes planus Thrombophlebitis Precocious puberty with Sertoli cell tumor Endolymphatic sac tumor Congenital shortened small intestine Thyroid nodule Uterine neoplasm Clear cell renal cell carcinoma Intussusception Testicular neoplasm Bloody diarrhea Glaucoma Polydipsia Weight loss Renal phosphate wasting Pseudoarthrosis Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Lisch nodules Chronic myelogenous leukemia Schwannoma Renal artery stenosis Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Single ventricle Renovascular hypertension Parathyroid adenoma Spinal neurofibromas Neoplasm of the stomach Abnormality of the lymphatic system Abnormality of extrapyramidal motor function Dry skin Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Inguinal freckling Axillary freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Pheochromocytoma Aqueductal stenosis Kyphoscoliosis Malabsorption Tetralogy of Fallot Specific learning disability Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Facial asymmetry Genu valgum Biliary tract neoplasm Coarctation of aorta Pulmonic stenosis Pruritus Attention deficit hyperactivity disorder Paralysis Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Osteopenia Abnormality of the cardiovascular system Hypsarrhythmia Brain neoplasm Neurofibromas Myocardial fibrosis Neoplasm of the endocrine system Gangrene Increased reactive oxygen species production Overweight Severe vision loss Osteomalacia Tibial bowing Pulmonary fibrosis Aganglionic megacolon Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Venous thrombosis Spina bifida Sensorimotor neuropathy Bone pain Melanonychia Abnormality of the respiratory system Esophageal neoplasm Kyphosis Intellectual disability, moderate Proximal muscle weakness Hypothyroidism Narrow mouth Abnormality of the dentition Pectus excavatum Recurrent infections Immunodeficiency Rod-cone dystrophy Nausea and vomiting Myopathy Atrial septal defect Frontal bossing Tremor Downslanted palpebral fissures Myopia Brachydactyly Motor delay Papule Joint hypermobility Micropenis Chronic diarrhea Hypopigmented skin patches Increased intracranial pressure Macrodontia Drooling Cranial nerve paralysis Duodenal stenosis Lymphopenia Exotropia Telangiectasia Polymicrogyria Subcutaneous nodule Broad thumb Intention tremor Decreased antibody level in blood Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma High palate Low-set ears Palmoplantar hyperkeratosis Type I diabetes mellitus Hoarse voice Hypergonadotropic hypogonadism Posterior subcapsular cataract Pulmonary artery stenosis Spontaneous abortion Alopecia of scalp Premature loss of teeth Subcapsular cataract Macular degeneration Sparse scalp hair Myeloid leukemia Scleroderma Dermal atrophy Polyphagia Lipodystrophy High pitched voice Squamous cell carcinoma Polyuria Insulin resistance Myocardial infarction Muscle weakness Coma Proptosis Ataxia Joint stiffness Generalized hypotonia Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Nephropathy Small hand Chest pain Slender build Poliosis Decreased testicular size Chorioretinitis Cutaneous melanoma Narrow nasal ridge Arteriosclerosis Enlarged joints Thyroid carcinoma Goiter Dysdiadochokinesis Neoplasm of the colon Mucosal telangiectasiae Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Sparse hair Transitional cell carcinoma of the bladder Acrokeratosis Pseudopapilledema Ductal carcinoma in situ Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Blepharophimosis Angioid streaks of the fundus Conjunctival hamartoma Merkel cell skin cancer Subcutaneous lipoma Abnormality of the nose Neoplasm of the rectum Abnormality of the gallbladder Pancreatic adenocarcinoma Arteriovenous fistula Gastrointestinal infarctions Multiple lentigines Anteverted nares Microphthalmia Abnormality of the gastrointestinal tract Multiple trichilemmomata Myelodysplasia Multiple renal cysts Clinodactyly Upslanted palpebral fissure Coarse facial features Conductive hearing impairment Vomiting Lobular carcinoma in situ Abnormality of the penis Colonic diverticula Intracranial hemorrhage Acute myeloid leukemia Lipoma Scaphocephaly Hashimoto thyroiditis Bone marrow hypocellularity Hodgkin lymphoma Thyroiditis Hyperthyroidism Narrow palate Proximal placement of thumb Papilledema Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Chromosome breakage Cutis marmorata Thick upper lip vermilion Hand polydactyly Abnormality of the vasculature Prolactin excess Adenoma sebaceum Cellular immunodeficiency Decreased proportion of CD4-positive T cells Prominent nasal bridge Generalized hyperkeratosis Fibroma Hip dislocation Papilloma Cavernous hemangioma Long penis Bone cyst Skin tags Dental malocclusion Long eyelashes Low anterior hairline Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Megalencephaly Abnormality of the ear



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