Breast carcinoma, and Lactic acidosis

Diseases related with Breast carcinoma and Lactic acidosis

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


Top matches:

Low match AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY


This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Low match MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY


Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

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

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Other less relevant matches:

Low match NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B


Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib|charcot-marie-tooth disease, type 6b|cmt6b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM


Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Is also known as mtdna depletion syndrome, myopathic form|mitochondrial dna depletion myopathy, tk2-related

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

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

Low match PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2


Early activation of the hypothalamic-pituitary-gonadal axis results in gonadotropin-dependent precocious puberty, also known as central precocious puberty, which is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. The timing of puberty is associated with risks of subsequent disease: earlier age of menarche in girls is associated with increased risk of breast cancer, endometrial cancer, obesity, type 2 diabetes, and cardiovascular disease. Central precocious puberty has also been associated with an increased incidence of conduct and behavior disorders during adolescence (summary by Abreu et al., 2013).For discussion of genetic heterogeneity of central precocious puberty, see CPPB1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Obesity
  • Abnormality of the cardiovascular system
  • Type II diabetes mellitus
  • Accelerated skeletal maturation


SOURCES: OMIM MENDELIAN

More info about PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2

Low match LI-FRAUMENI SYNDROME 2; LFS2


Related symptoms:

  • Neoplasm
  • Breast carcinoma
  • Sarcoma
  • Meningioma
  • Stomach cancer


SOURCES: MESH OMIM MENDELIAN

More info about LI-FRAUMENI SYNDROME 2; LFS2

Top 5 symptoms//phenotypes associated to Breast carcinoma and Lactic acidosis

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

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

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Hearing impairment Respiratory failure Respiratory distress Irritability

Rare Symptoms - Less than 30% cases


Microcephaly Skeletal muscle atrophy Flexion contracture Muscular hypotonia Peripheral neuropathy Muscle weakness Optic atrophy Myopathy Visual impairment Encephalopathy Babinski sign Wide intermamillary distance Severe lactic acidosis Ovarian neoplasm Cerebral atrophy Failure to thrive Muscular hypotonia of the trunk Ataxia Abnormality of the cerebral white matter Cognitive impairment Hyperreflexia Tremor Cerebellar atrophy Pes cavus Proximal muscle weakness Myoclonus Abnormal pyramidal sign Developmental regression Polyhydramnios Increased serum lactate Gynecomastia Spasticity Pneumonia Ophthalmoplegia Hyperlordosis Elevated serum creatine phosphokinase Limb muscle weakness Facial palsy Respiratory insufficiency Fatigue Muscular dystrophy Intellectual disability Ptosis Sensorimotor neuropathy Sensory neuropathy Tapered finger Polyneuropathy Sensory impairment Progressive visual loss Peripheral demyelination Narrow forehead Exotropia Narrow palate Trophic changes related to pain Tented upper lip vermilion Waddling gait Steppage gait Atrophy/Degeneration affecting the brainstem Inverted nipples Absent Achilles reflex Cone dysfunction syndrome Pontocerebellar atrophy Hepatic failure Gowers sign Lumbar hyperlordosis Obesity Weak voice Generalized aminoaciduria Loss of ability to walk in early childhood Depletion of mitochondrial DNA in muscle tissue Abnormality of the ear Ovarian carcinoma Abnormality of the cardiovascular system Respiratory arrest Type II diabetes mellitus Accelerated skeletal maturation Precocious puberty Premature thelarche Sarcoma Meningioma Stomach cancer Decreased activity of mitochondrial respiratory chain Abnormality of the basal ganglia Aminoaciduria Delayed gross motor development Intellectual disability, progressive Scapular winging Respiratory insufficiency due to muscle weakness External ophthalmoplegia Ragged-red muscle fibers Infantile muscular hypotonia EMG: myopathic abnormalities Nasal speech Facial diplegia Distal amyotrophy Toe walking Decreased muscle mass Generalized amyotrophy Ankle contracture Progressive external ophthalmoplegia Mitochondrial myopathy Distal sensory impairment Diffuse leukoencephalopathy Bulbous nose Rotary nystagmus Hepatomegaly Long philtrum Thin upper lip vermilion Hypoglycemia Progressive microcephaly Organic aciduria Increased serum pyruvate Focal T2 hypointense basal ganglia lesion Growth delay High palate Feeding difficulties Intrauterine growth retardation Ventriculomegaly Hypoplasia of the corpus callosum Epicanthus Talipes cavus equinovarus Recurrent infections EMG abnormality Strabismus Dystonia Gait ataxia Intellectual disability, moderate Stroke Progressive cerebellar ataxia Exercise intolerance Epilepsia partialis continua Brisk reflexes Neurodevelopmental delay Axonal degeneration Central hypotonia Increased CSF lactate Generalized tonic seizures Increased intramyocellular lipid droplets Edema Retrognathia Dysmetria Hypertonia Frontoparietal polymicrogyria Progressive leukoencephalopathy Scoliosis Delayed speech and language development Dysphagia Anteverted nares Midface retrusion Primitive reflex Visual loss Areflexia Hyporeflexia Cerebellar hypoplasia Difficulty walking Pallor Severe global developmental delay Psychomotor deterioration Pendular nystagmus Arthrogryposis multiplex congenita Leukodystrophy Polymicrogyria Metabolic acidosis Tetraplegia Brain atrophy Spastic tetraplegia Tetraparesis Severe muscular hypotonia Loss of speech Spastic tetraparesis Leukoencephalopathy Abnormality of mitochondrial metabolism Hypoplasia of the brainstem Agitation Opisthotonus Episodic fever Glioma



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