Breast carcinoma, and Photophobia

Diseases related with Breast carcinoma and Photophobia

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


Top matches:

Medium match PITUITARY APOPLEXY


The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

Medium match LYMPHEDEMA-DISTICHIASIS SYNDROME


Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

Medium match ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1


ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

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Other less relevant matches:

Medium match EEC SYNDROME


EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1


Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..

PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1 Is also known as palmoplantar keratoderma, punctate type i|ppkp1|keratodermia palmoplantaris papulosa, buschke-fischer-brauer type|buschke-fischer-brauer syndrome|keratosis palmoplantaris papulosa|kppp1

Related symptoms:

  • Neoplasm
  • Pain
  • Dilatation
  • Depressivity
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1

Low match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Low 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

Low match CONE ROD DYSTROPHY


Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.

CONE ROD DYSTROPHY Is also known as human retinal gene 4|hrg4

Related symptoms:

  • Visual impairment
  • Photophobia
  • Nyctalopia
  • Retinal degeneration
  • Abnormality of retinal pigmentation


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONE ROD DYSTROPHY

Low match CYSTINOSIS, ADULT NONNEPHROPATHIC


Ocular nonnephropathic cystinosis, a variant of the classic nephropathic type of cystinosis (OMIM ), is an autosomal recessive lysosomal storage disorder characterized by photophobia due to corneal cystine crystals but absence of renal disease (summary by Anikster et al., 2000).

CYSTINOSIS, ADULT NONNEPHROPATHIC Is also known as cystinosis, benign nonnephropathic|cystinosis, ocular nonnephropathic

Related symptoms:

  • Photophobia
  • Proteinuria
  • Aciduria
  • Corneal dystrophy
  • Renal tubular dysfunction


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, ADULT NONNEPHROPATHIC

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

Symptoms // Phenotype % cases
Growth hormone deficiency Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Central diabetes insipidus Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hydroureter Dilatation Cleft palate Hypogonadotrophic hypogonadism Recurrent urinary tract infections Pain Visual impairment Hearing impairment Neoplasm Depressivity Seizures Carious teeth Fever Fatigue Cleft upper lip Proteinuria Vesicoureteral reflux Polydactyly Alopecia

Rare Symptoms - Less than 30% cases


Split foot Hypoplastic nipples Sparse axillary hair Dysuria Sparse pubic hair Depressed nasal tip Blepharitis Blue irides Fair hair Xerostomia Generalized hypopigmentation Ptosis Ectrodactyly Sparse scalp hair Oral cleft Hypoplasia of the maxilla Hypodontia Hypertonia Ectodermal dysplasia Renal agenesis Microdontia Choanal atresia Colon cancer Split hand Muscular hypotonia Renal dysplasia Hypohidrosis Sparse and thin eyebrow Sparse eyelashes Neoplasm of the pancreas Keratitis Hypoplasia of the thymus Dacryocystitis Bladder diverticulum Irritability Optic atrophy Behavioral abnormality Encephalopathy Constipation Pneumonia Abdominal pain Autism Autistic behavior Motor delay Nyctalopia Retinal degeneration Hypertension Gastrointestinal hemorrhage Hypoventilation Epidermal acanthosis Thickened skin Abnormality of retinal pigmentation Hepatomegaly Delayed speech and language development Selective tooth agenesis Short stature Duplicated collecting system Abnormality of the nasopharynx Nail pits Ureterocele Urethral atresia Carcinoma Transverse vaginal septum Absence of Stensen duct Flexion contracture Strabismus Sparse hair Dry skin Urethral stenosis Global developmental delay Ataxia Growth delay Nystagmus Failure to thrive Toe syndactyly Sensorineural hearing impairment Microtia Anxiety Tubulointerstitial nephritis Glomerulopathy Conjunctivitis Gynecomastia Pallor Paresthesia Abnormality of the liver Diabetes mellitus Microcephaly Hypogonadism Patent ductus arteriosus Oligomenorrhea Nausea and vomiting Cataract Hypergonadotropic hypogonadism Hypopituitarism Pituitary adenoma Corneal erosion Obesity Cryptorchidism Blepharophimosis Recurrent respiratory infections Micropenis Conductive hearing impairment Syndactyly Hydronephrosis Cleft lip Malar flattening Chronic obstructive pulmonary disease Myocardial fibrosis Abnormal left ventricle morphology Abnormal renal physiology Neurofibromas Disinhibition Male hypogonadism Retinal pigment epithelial atrophy Renal tubular dysfunction Aciduria Esophageal varix Chronic fatigue Endocardial fibroelastosis Abnormal renal morphology Testicular atrophy Decreased HDL cholesterol concentration Ovarian cyst Corneal dystrophy High-frequency hearing impairment Restrictive cardiomyopathy Menstrual irregularities Arteriosclerosis Tubulointerstitial fibrosis Bull's eye maculopathy Abnormality of the optic disc First degree atrioventricular block Melena Neoplasm of the skeletal system Abnormality of creatine metabolism Hematemesis Frontal balding Portal hypertension Increased total bilirubin Neoplasm of the rectum Vertical nystagmus Multinodular goiter Elevated C-reactive protein level Cardiac diverticulum Abnormality of female external genitalia Urinary tract neoplasm Abnormality of color vision Hepatic encephalopathy Achromatopsia Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Urinary retention Myocarditis Oligospermia Elevated serum creatinine Tubular atrophy Progressive sensorineural hearing impairment Pericarditis Subcapsular cataract Hyperostosis Increased number of teeth Hyperuricemia Hyperglycemia Corneal crystals Bronchitis Glycosuria Retinal pigment epithelial mottling Agenesis of permanent teeth Multiple myeloma Short finger Polyphagia Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Truncal obesity Urinary urgency Pulmonary fibrosis Emphysema Polyuria Glucose intolerance Thoracic scoliosis Acne Recurrent bronchitis Posterior subcapsular cataract Acute hepatic failure Diabetes insipidus Right ventricular hypertrophy Attenuation of retinal blood vessels Pendular nystagmus Gingivitis Ketoacidosis Broad foot Polydipsia Nephritis Chronic otitis media Impaired vibratory sensation Obsessive-compulsive behavior Poor coordination Hyperventilation Aplasia/Hypoplasia of the cerebellum Alopecia of scalp Peripheral visual field loss Retinal atrophy Insulin-resistant diabetes mellitus Constriction of peripheral visual field Severe sensorineural hearing impairment Autoimmune thrombocytopenia Decreased glomerular filtration rate Agnosia Abnormal spermatogenesis Abnormality of the skin Dysarthria Squamous cell carcinoma Gait disturbance Developmental regression Scaling skin Abnormal pyramidal sign Attention deficit hyperactivity disorder Abnormality of the nail Neurological speech impairment Malabsorption Dyskinesia Reduced dihydropyrimidine dehydrogenase activity Migraine Palmoplantar keratoderma Papule Memory impairment Hallucinations Increased intracranial pressure Hyperinsulinemia Hemiplegia/hemiparesis Abnormality of the femoral head Basal cell carcinoma Vitreous haze Uraciluria Recurrent aspiration pneumonia Localized hirsutism Generalized hypotonia Agenesis of corpus callosum Thrombocytopenia Cerebral atrophy Coloboma Microphthalmia Lethargy Diarrhea Iris coloboma Tetraplegia Ventriculomegaly Febrile seizures Transitional cell carcinoma of the bladder Stomatitis Spastic tetraplegia Aspiration Leukopenia Delayed gross motor development Orthokeratosis Hypergranulosis Aspiration pneumonia Parakeratosis Renal cell carcinoma Diffuse cerebral atrophy Hodgkin lymphoma Visual field defect Abnormality of renal calyx morphology Chronic infection Abnormal muscle tone Urethral obstruction Squared iliac bones Renovascular hypertension Hepatocellular carcinoma Intestinal polyposis Albuminuria Prostate cancer Dysgraphia Amaurosis fugax Leiomyosarcoma Pancreatic adenocarcinoma Female hypogonadism Hypoplastic male external genitalia Glioblastoma multiforme Hyperactivity Neoplasm of the thyroid gland Impaired temperature sensation Benign neoplasm of the central nervous system Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Abnormality of the pituitary gland Hepatic necrosis Neuroblastoma Receptive language delay Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Dilatation of the bladder Thickened ears Granular macular appearance Hyperostosis frontalis interna Chronic hepatic failure Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Ovarian neoplasm Facial hirsutism Lipodystrophy Nausea Precocious puberty Abnormality of the genitourinary system Nasolacrimal duct obstruction Recurrent corneal erosions Rectovaginal fistula Heat intolerance Anodontia Bilateral cleft lip Absent septum pellucidum Epiphora Hand polydactyly Preaxial polydactyly Abnormality of the urinary system Oligodontia Abnormal salivary gland morphology Abnormality of the genital system Omphalocele Thin skin Oligohydramnios Nail dysplasia Broad nasal tip Pulmonary hypoplasia Anal atresia Abnormality of the foot Small for gestational age Short philtrum Semilobar holoprosencephaly Slow-growing scalp hair Posteriorly rotated ears Reduced number of teeth Aplasia/Hypoplasia of the nipples Slow-growing hair Entropion Lacrimation abnormality Anterior hypopituitarism Taurodontia External ear malformation Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasia of the skin Hypoplastic toenails Proximal placement of thumb Coarse hair Depressed nasal bridge Renal hypoplasia/aplasia Cutaneous syndactyly Abnormality of dental enamel Hypoplasia of dental enamel Fine hair Lymphoma Nevus Thick eyebrow Nail dystrophy Finger syndactyly Hypospadias Telecanthus Inguinal hernia Thin nail Increased circulating cortisol level Bitemporal hemianopia Trigeminal neuralgia Prolactin deficiency Mydriasis Abnormality of the cerebrospinal fluid Galactorrhea Normochromic anemia Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Excessive daytime somnolence Prolactin excess Growth hormone excess Thunderclap headache Blurred vision Impotence Hyponatremia Cranial nerve paralysis Diplopia Hypotension Coma Confusion Hypoglycemia Reduced visual acuity Headache Abnormal kinetic perimetry test Abnormal caudate nucleus morphology Recurrent infections Varicose veins Immunodeficiency Hypertelorism Lipedema Spinalarachnoid cyst Abnormality of the pulmonary vasculature Predominantly lower limb lymphedema Fibrosarcoma Knee pain Renal duplication Distichiasis Venous insufficiency Overweight Abnormal static automated perimetry test Cellulitis Ectropion Recurrent skin infections Lymphedema Telangiectasia Webbed neck Bruising susceptibility Arrhythmia Abnormality of cardiovascular system morphology Edema Muscle weakness Inflammatory abnormality of the eye Abnormality of the middle ear Elevated alkaline phosphatase Progressive visual loss Involuntary movements Recurrent otitis media Hypertriglyceridemia Pulmonary arterial hypertension Type II diabetes mellitus Cardiomegaly Optic disc pallor Hepatitis Pigmentary retinopathy Cyanosis Specific learning disability Decreased testicular size Chronic diarrhea Otitis media Round face Urinary incontinence Asthma Abdominal distention Ascites Sleep disturbance Nephropathy Hepatic steatosis Retinal dystrophy Hirsutism Left ventricular hypertrophy Anorexia Tachycardia Macular degeneration Cholelithiasis Abnormality of the hand Polycystic ovaries Goiter Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Pancreatitis Hyperlipidemia Atherosclerosis Acanthosis nigricans Accelerated skeletal maturation Insulin resistance Absence seizures Nephrocalcinosis Generalized hirsutism Increased body weight Horizontal nystagmus Recurrent pneumonia Short toe Sinusitis Hyperpigmentation of the skin Hepatic fibrosis Decreased liver function Hepatic failure Cirrhosis Megacystis Cardiomyopathy Hyporeflexia Visual loss Clinodactyly Renal insufficiency Kyphosis Splenomegaly Dystonia Abnormality of the dentition Congestive heart failure Vomiting Blindness Respiratory distress Myoclonus Short neck Respiratory insufficiency Peripheral neuropathy Feeding difficulties Cognitive impairment Scoliosis Generalized microdontia Periorbital hyperpigmentation Mesoaxial polydactyly Abnormality of the inner ear Aplasia/Hypoplasia of the breasts Rod-cone dystrophy Hyperhidrosis Stage 5 chronic kidney disease Scarring Lymphadenopathy Infertility Delayed puberty Pulmonic stenosis Ophthalmoplegia Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Dilated cardiomyopathy Cough Retinopathy Respiratory tract infection Respiratory failure Postnatal growth retardation Abnormality of the kidney Myalgia Elevated hepatic transaminase Deeply set eye Jaundice Hepatosplenomegaly Pes planus Kyphoscoliosis Gastroesophageal reflux Dyspnea Hypothyroidism Crystalline corneal dystrophy



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