Breast carcinoma, and Brain atrophy

Diseases related with Breast carcinoma and Brain atrophy

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


Top matches:

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

Low 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

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

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Other less relevant matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51


Early infantile epileptic encephalopathy-51 is an autosomal recessive severe neurodevelopmental disorder characterized by onset of intractable seizures and hypotonia in the first days or weeks of life. Affected individuals have severely delayed psychomotor development and may show abnormal movements. Brain imaging shows nonspecific abnormalities, such as cerebral atrophy, cerebellar atrophy, and delayed myelination. Laboratory studies showed increased lactate, suggesting mitochondrial dysfunction (summary by Ait-El-Mkadem et al., 2017).For a discussion of genetic heterogeneity of EIEE, see {308350}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51

Low match PENOSCROTAL TRANSPOSITION


Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

Low match RIBOFLAVIN TRANSPORTER DEFICIENCY


Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

RIBOFLAVIN TRANSPORTER DEFICIENCY Is also known as sensorineural hearing loss-pontobulbar palsy syndrome|brown-vialetto-van laere syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about RIBOFLAVIN TRANSPORTER DEFICIENCY

Low match RFT1-CDG


RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

RFT1-CDG Is also known as congenital disorder of glycosylation type in|cdg1n|cdg-in|cdg syndrome type in|carbohydrate deficient glycoprotein syndrome type in|man5glcnac2-pp-dol flippase deficiency|cdgin|cdg in|congenital disorder of glycosylation type 1n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RFT1-CDG

Low match TEMPLE-BARAITSER SYNDROME


Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3


MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Top 5 symptoms//phenotypes associated to Breast carcinoma and Brain atrophy

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Cerebral atrophy Failure to thrive Visual impairment Epicanthus Short neck Feeding difficulties Cerebral cortical atrophy Hearing impairment Encephalopathy Wide intermamillary distance Cognitive impairment Microcephaly Ataxia Strabismus

Rare Symptoms - Less than 30% cases


Bilateral single transverse palmar creases Depressed nasal bridge Hypertension Edema Malar flattening Recurrent infections High palate Obesity Clinodactyly of the 5th finger Developmental regression Downturned corners of mouth Open mouth Respiratory insufficiency Myoclonus Skeletal muscle atrophy Hypoplasia of the corpus callosum Absent speech Hyporeflexia Abnormal pyramidal sign Micrognathia Arthrogryposis multiplex congenita Muscular hypotonia of the trunk Intellectual disability, severe Gynecomastia Spasticity Diabetes insipidus Ptosis Adducted thumb Abnormality of mitochondrial metabolism Optic atrophy Short stature Growth delay Spastic tetraplegia Tetraplegia Thrombocytopenia Nystagmus Hepatomegaly Ventriculomegaly Abnormal cranial nerve morphology Sensorineural hearing impairment Abnormality of macular pigmentation Cataract Iris hypopigmentation Bulbar palsy Abnormality of color vision Cachexia Sleep apnea Progressive hearing impairment Fever Motor delay Hyperreflexia Reduced visual acuity Delayed speech and language development Abnormality of the foot Abnormal bleeding Abnormality of the coagulation cascade Mild short stature Abnormality of coagulation Inverted nipples Stroke-like episode Abnormal thrombosis Pes valgus Hyperintensity of cerebral white matter on MRI Abnormality of the posterior cranial fossa Cranial nerve paralysis Optic disc pallor Abnormal autonomic nervous system physiology Blind vagina Elevated circulating follicle stimulating hormone level Patellar aplasia Menstrual irregularities Aplasia of the uterus Elevated circulating luteinizing hormone level Pseudohypoparathyroidism Perineal hypospadias Dimple chin Nephrogenic diabetes insipidus Abnormality of the urethra Penoscrotal hypospadias Abnormal external genitalia Female external genitalia in individual with 46,XY karyotype Absent facial hair Penoscrotal transposition Hallucinations Incomplete male pseudohermaphroditism Scrotal hypospadias Muscle weakness Hypertonia Diarrhea Dysarthria Tremor Dysphagia Hypogonadism Aggressive behavior Facial palsy Limb muscle weakness Abnormality of eye movement Bilateral basal ganglia lesions Abnormal isoelectric focusing of serum transferrin Abnormal facial shape Hypertelorism Tetraparesis Hypoplastic thumbnail Intrauterine growth retardation Respiratory distress Myopathy Respiratory failure Acidosis Polyhydramnios Retrognathia Irritability Abnormality of the cerebral white matter Lactic acidosis Polymicrogyria Metabolic acidosis Leukodystrophy Pseudoepiphysis of the thumb Severe muscular hypotonia Spastic tetraparesis Leukoencephalopathy Hypoplasia of the brainstem Agitation Opisthotonus Episodic fever Loss of speech Pendular nystagmus Severe lactic acidosis Primitive reflex Psychomotor deterioration Diffuse leukoencephalopathy Frontoparietal polymicrogyria Absent nail of hallux Tented philtrum Sparse pubic hair Broad thumb Wide nasal bridge Downslanted palpebral fissures Anteverted nares Long philtrum Neonatal hypotonia Wide mouth Generalized tonic-clonic seizures Short distal phalanx of finger Wide nose Thick vermilion border Tapered finger Full cheeks Prominent nose Small nail Short thumb Flat forehead Low anterior hairline Intellectual disability, progressive Myopathic facies Broad hallux Anonychia Global brain atrophy Poor eye contact Short columella Low hanging columella High anterior hairline Thick nasal alae Small thenar eminence Frontal upsweep of hair Pseudoepiphyses Labial hypoplasia Shawl scrotum Sparse axillary hair Sandal gap Short palm Postaxial polydactyly Single transverse palmar crease Neutropenia Postural instability Macroglossia Microdontia Type II diabetes mellitus Thick lower lip vermilion Depressed nasal ridge Febrile seizures Aganglionic megacolon Narrow palate Renal hypoplasia/aplasia Anal atresia Cholelithiasis Alzheimer disease Hydroureter Decreased fertility Atrioventricular canal defect Broad palm Transposition of the great arteries Prematurely aged appearance Abnormality of blood and blood-forming tissues Abnormality of immune system physiology Impaired pain sensation Congenital hypothyroidism Neurofibrillary tangles Polycythemia Flat face Hypotrichosis Thrombocytosis Abnormality of cardiovascular system morphology Anemia Uraciluria Reduced dihydropyrimidine dehydrogenase activity Recurrent aspiration pneumonia Brachydactyly Myopia Gait disturbance Stomatitis Hydrocephalus Diffuse cerebral atrophy Abnormality of the dentition Short nose Aspiration pneumonia Hypoventilation Delayed gross motor development Leukemia Abnormal heart morphology Leukopenia Dementia Upslanted palpebral fissure Brachycephaly Polydactyly Narrow mouth Hypothyroidism Umbilical hernia Conductive hearing impairment Hydronephrosis Joint laxity Aspiration Microtia Protruding tongue Acute lymphoblastic leukemia Male pseudohermaphroditism Hypospadias Inability to walk Generalized myoclonic seizures Delayed myelination Increased serum lactate Epileptic encephalopathy Poor head control Hyperactivity Supernumerary nipple Increased CSF lactate Corpus callosum atrophy Agenesis of corpus callosum Cryptorchidism Cardiomyopathy Hernia Inguinal hernia Rod-cone dystrophy Pneumonia Micropenis Pectus carinatum Alopecia Renal agenesis Ambiguous genitalia Primary amenorrhea Abnormality of the genital system Renal dysplasia Growth abnormality Bifid scrotum Microphthalmia Prominent occiput Abnormality of the ureter Weight loss Constipation Thickened nuchal skin fold Atlantoaxial instability Double outlet right ventricle Hypoplastic iliac wing Senile plaques Acute monocytic leukemia Hypoxemia Pulmonary edema Complete atrioventricular canal defect Short middle phalanx of the 5th finger Myeloproliferative disorder Abnormality of the lymphatic system Duodenal stenosis Shallow acetabular fossae Abnormality of the fontanelles or cranial sutures Neutrophilia Crackles Babinski sign Transient myeloproliferative syndrome Brushfield spots Round ear Left-to-right shunt Acute megakaryocytic leukemia Abnormality of the ear Ovarian neoplasm Iris coloboma Lethargy Coloboma Cerebellar atrophy Dystonia Autistic behavior Autism Progressive leukoencephalopathy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Lymphoma and Single transverse palmar crease, related diseases and genetic alterations Hydrocephalus and Polycystic kidney dysplasia, related diseases and genetic alterations Skeletal muscle atrophy and Difficulty walking, related diseases and genetic alterations Cryptorchidism and Polydactyly, related diseases and genetic alterations

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