Breast carcinoma, and Intellectual disability, profound

Diseases related with Breast carcinoma and Intellectual disability, profound

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


Top matches:

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

Medium 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

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

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Other less relevant matches:

Medium match COWDEN SYNDROME 5; CWS5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Medium match COWDEN SYNDROME 6; CWS6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

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 SAETHRE-CHOTZEN SYNDROME


Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SAETHRE-CHOTZEN 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

Medium match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN 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

Top 5 symptoms//phenotypes associated to Breast carcinoma and Intellectual disability, profound

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Neoplasm Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Intellectual disability, profound. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Meningioma Intention tremor Hypoplasia of the maxilla Hypothyroidism Narrow mouth Intellectual disability, mild Myopia Cognitive impairment Leukemia Hypertelorism Delayed speech and language development Anemia Strabismus Failure to thrive Cataract Microcephaly Goiter High palate Kyphosis Pectus excavatum Micrognathia Abnormality of the cardiovascular system Narrow palate Gynecomastia Palmoplantar hyperkeratosis Hydrocele testis Hyperthyroidism Transitional cell carcinoma of the bladder Hypertension Brachydactyly Abnormality of cardiovascular system morphology Abnormal heart morphology Multiple cafe-au-lait spots Cafe-au-lait spot Lymphoma Recurrent infections Fibroadenoma of the breast Progressive macrocephaly Thyroiditis Thyroid adenoma Angioid streaks of the fundus Colonic diverticula Subcutaneous lipoma Hamartomatous polyposis Ovarian cyst Furrowed tongue Conductive hearing impairment Skin tags Hashimoto thyroiditis Carcinoma Varicocele Autism Generalized hypotonia Epicanthus Ataxia Hydrocephalus Abnormal facial shape

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Astrocytoma Acute lymphoblastic leukemia Microtia Immunodeficiency Gait disturbance Tremor Thrombocytopenia Pneumonia Peripheral neuropathy Overgrowth Flexion contracture Diarrhea Muscle weakness Microphthalmia Dysarthria Ptosis Hyperactivity Broad thumb Increased intracranial pressure Motor delay Telangiectasia Type II diabetes mellitus Bilateral single transverse palmar creases Neoplasm of the central nervous system Decreased antibody level in blood Abnormal cerebellum morphology Prematurely aged appearance Muscular hypotonia Single transverse palmar crease Upslanted palpebral fissure Flat face Optic atrophy Facial asymmetry Complete atrioventricular canal defect Hodgkin lymphoma Intellectual disability, moderate Weight loss Ovarian neoplasm Incoordination Autistic behavior Growth delay Ovarian carcinoma Duodenal stenosis Renal cell carcinoma Macroglossia Chromosome breakage Mucosal telangiectasiae Nystagmus Clinodactyly Malar flattening Low anterior hairline Abnormality of the skeletal system Dental malocclusion Prominent nasal bridge Depressed nasal bridge Low-set ears Decreased proportion of CD4-positive T cells Lymphopenia Macrocephaly Brachycephaly Cellular immunodeficiency Clinodactyly of the 5th finger Dilatation Neoplasm of the breast Pain Chronic myelogenous leukemia Headache Aganglionic megacolon Edema Vestibular Schwannoma Arterial fibromuscular dysplasia Embryonal rhabdomyosarcoma Abnormality of the dentition Axillary freckling Renovascular hypertension Short nose Renal artery stenosis Obesity Single ventricle Optic nerve glioma Neuroma Short neck Neurofibrosarcoma Subcutaneous neurofibromas Acute promyelocytic leukemia Brow ptosis Dementia Umbilical hernia Tibial pseudoarthrosis Polydactyly Inguinal freckling Spinal neurofibromas Cerebral artery stenosis Plexiform neurofibroma Back pain Pseudoarthrosis Atherosclerosis Recurrent fractures Hydronephrosis Gastrointestinal hemorrhage Specific learning disability Tetralogy of Fallot Mitral valve prolapse Coarctation of aorta Hypsarrhythmia Bone pain Sensorimotor neuropathy Spina bifida Venous thrombosis Severe vision loss Reduced bone mineral density Sarcoma Osteomalacia Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Abnormality of skin pigmentation Overweight Soft tissue sarcoma Nasolacrimal duct obstruction Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Genu valgum Paresthesia Lisch nodules Renal phosphate wasting Schwannoma Glioma Rhabdomyosarcoma Increased reactive oxygen species production Carcinoid tumor Night sweats Anomalous pulmonary venous return Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Gangrene Peripheral axonal neuropathy Paraganglioma Abnormality of the fontanelles or cranial sutures Joint laxity Cutis marmorata Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hamartoma Acute myeloid leukemia Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Melanocytic nevus Megalencephaly Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Melanoma Hypopigmented skin patches Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Exotropia Chronic diarrhea Subcutaneous nodule Prolactin excess Arteriovenous malformation Polymicrogyria Colorectal polyposis 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 Acrokeratosis Pseudopapilledema Endometrial carcinoma Abnormality of the uterus Follicular thyroid carcinoma Intestinal polyp Abnormality of the penis Adenoma sebaceum Generalized hyperkeratosis Fibroma Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Bone cyst Intestinal polyposis Palmoplantar keratoderma Joint hypermobility Developmental regression Cholelithiasis Neurofibrillary tangles Congenital hypothyroidism Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Transposition of the great arteries Broad palm Atrioventricular canal defect Decreased fertility Hydroureter Alzheimer disease Renal hypoplasia/aplasia Protruding tongue Sandal gap Open mouth Depressed nasal ridge Thick lower lip vermilion Microdontia Postural instability Neutropenia Downturned corners of mouth Postaxial polydactyly Short palm Anal atresia Hypotrichosis Polycythemia Thrombocytosis Nausea and vomiting Crackles Papule Abnormality of the kidney Proximal muscle weakness Myopathy Atrial septal defect Frontal bossing Downslanted palpebral fissures Acute megakaryocytic leukemia Left-to-right shunt Round ear Brushfield spots Transient myeloproliferative syndrome Atlantoaxial instability Thickened nuchal skin fold Neutrophilia Pulmonic stenosis Shallow acetabular fossae Abnormality of the lymphatic system Myeloproliferative disorder Short middle phalanx of the 5th finger Pulmonary edema Hypoxemia Acute monocytic leukemia Senile plaques Hypoplastic iliac wing Double outlet right ventricle Malabsorption Broad hallux Pruritus Bronchiectasis Slurred speech Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Truncal ataxia Abnormality of the hair Abnormal vertebral morphology Sinusitis Limb ataxia Choreoathetosis Spinal muscular atrophy Pancytopenia Apraxia Hepatitis Chorea Progressive cerebellar ataxia Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of movement Abnormality of eye movement Polycystic ovaries Athetosis Neurological speech impairment Recurrent lower respiratory tract infections Abnormality of chromosome stability Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Severe combined immunodeficiency Glucose intolerance Hepatocellular carcinoma Hypopigmentation of hair IgA deficiency Myeloid leukemia Abnormality of the immune system Telangiectasia of the skin Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Combined immunodeficiency Delayed puberty Distal muscle weakness Abnormal spermatogenesis Tetraplegia Recurrent aspiration pneumonia Stomatitis Diffuse cerebral atrophy Aspiration pneumonia Hypoventilation Delayed gross motor development Leukopenia Aspiration Spastic tetraplegia Febrile seizures Iris coloboma Uraciluria Lethargy Coloboma Agenesis of corpus callosum Alopecia Encephalopathy Cerebral atrophy Hypertonia Ventriculomegaly Fever Hepatomegaly Reduced dihydropyrimidine dehydrogenase activity Intrauterine growth retardation Abnormality of the liver Spasticity Respiratory tract infection Anxiety Elevated hepatic transaminase Difficulty walking Gait ataxia Diabetes mellitus Myoclonus Recurrent respiratory infections Dystonia Cerebellar atrophy Macrodontia Anteverted nares Stomach cancer Thick upper lip vermilion Proximal placement of thumb Bone marrow hypocellularity Long eyelashes Hypopigmentation of the skin Hip dislocation Blepharophimosis Sparse hair Coarse facial features Conjunctival telangiectasia Elevated alpha-fetoprotein Attention deficit hyperactivity disorder Anterior plagiocephaly Mild hearing impairment Craniofacial asymmetry Adrenogenital syndrome Flat forehead Abnormal nasolacrimal system morphology Parietal foramina Congenital adrenal hyperplasia Craniofacial dysostosis Lacrimal duct stenosis Lambdoidal craniosynostosis Oxycephaly Skull asymmetry Buphthalmos Abnormal hair pattern Bilateral cleft lip and palate Adrenal hyperplasia Blepharospasm Abnormality of the antihelix Short columella Coronal craniosynostosis Abnormality of the skull Bilateral cleft lip Narrow internal auditory canal Deviated nasal septum Narrow nose Blindness Paralysis Hypertrophic cardiomyopathy Hypoglycemia Osteopenia Kyphoscoliosis Glaucoma Osteoporosis Visual loss Depressivity Behavioral abnormality Cardiomyopathy Duplication of the distal phalanx of hand Respiratory insufficiency Visual impairment Cleft of chin Absent first metatarsal Partial duplication of the distal phalanx of the 2nd finger Partial duplication of the distal phalanx of the 3rd finger Renotubular dysgenesis Prominent crus of helix Proximal radio-ulnar synostosis Premature closure of fontanelles Shallow orbits External ear malformation Chronic hepatitis Cleft palate Low-set, posteriorly rotated ears Cleft lip Telecanthus High forehead Mandibular prognathia Proptosis Posteriorly rotated ears Midface retrusion Syndactyly Cryptorchidism Sensorineural hearing impairment Protruding ear 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 Female hypogonadism Hyperlordosis Craniosynostosis Abnormality of digit Abnormality of the genitourinary system Vertebral fusion Long nose Delayed cranial suture closure Hallux valgus Open bite Epiphora Triphalangeal thumb Trigonocephaly Radioulnar synostosis Abnormality of pelvic girdle bone morphology Sleep apnea Broad forehead Cutaneous syndactyly Plagiocephaly Coxa valga Elbow flexion contracture Amblyopia Abnormal form of the vertebral bodies Hypotelorism Convex nasal ridge Migraine Toe syndactyly Finger syndactyly Lobular carcinoma in situ



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