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:
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
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
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:
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
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
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
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
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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