Breast carcinoma, and Spastic paraplegia

Diseases related with Breast carcinoma and Spastic paraplegia

In the following list you will find some of the most common rare diseases related to Breast carcinoma and Spastic paraplegia 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

Medium 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

Medium match PEROXISOME BIOGENESIS DISORDER 10B; PBD10B


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10B; PBD10B

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Other less relevant matches:

Medium match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

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

Low match NEUROGENIC SCAPULOPERONEAL SYNDROME, KAESER TYPE


NEUROGENIC SCAPULOPERONEAL SYNDROME, KAESER TYPE Is also known as scapuloperoneal syndrome, neurogenic type, of kaeser|stark-kaeser syndrome|kaeser syndrome

Related symptoms:

  • Skeletal muscle atrophy
  • Dysphagia
  • Talipes equinovarus
  • Facial palsy
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NEUROGENIC SCAPULOPERONEAL SYNDROME, KAESER TYPE

Low match KALLMANN SYNDROME


Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

Low match SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME


Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.

SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME Is also known as solamen syndrome

Related symptoms:

  • Macrocephaly
  • Congestive heart failure
  • Papule
  • Talipes
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME

Low match FILIPPI SYNDROME


Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

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

Top 5 symptoms//phenotypes associated to Breast carcinoma and Spastic paraplegia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm Failure to thrive Paraplegia Global developmental delay Gait disturbance Short stature Ataxia Microcephaly Cognitive impairment Visual impairment Dysarthria Delayed puberty Obesity Cerebellar atrophy Neurological speech impairment Gynecomastia Hypertonia Growth delay Muscle weakness Strabismus Cryptorchidism

Rare Symptoms - Less than 30% cases


Muscular hypotonia of the trunk Thick eyebrow Distal amyotrophy Neoplasm of the thyroid gland Cataract High forehead Progressive cerebellar ataxia Small for gestational age Hypothyroidism Gait ataxia Micropenis Severe short stature Frontal bossing Peripheral neuropathy Sparse hair Skeletal muscle atrophy Hypoplasia of penis Brachycephaly Cleft palate Talipes Abnormality of cardiovascular system morphology Delayed skeletal maturation Recurrent fractures Reduced bone mineral density Decreased fertility Neoplasm of the breast Acute lymphoblastic leukemia Prematurely aged appearance Brachydactyly Clinodactyly of the 5th finger Polydactyly Long eyelashes Type II diabetes mellitus Single transverse palmar crease Polyneuropathy Microdontia Leukemia Bilateral single transverse palmar creases Recurrent infections Dystonia Tremor Ovarian neoplasm Anemia Spasticity Hypogonadotrophic hypogonadism Hepatocellular carcinoma Distal muscle weakness Optic atrophy Carcinoma Alopecia Hemiplegia/hemiparesis Anxiety Developmental regression Thrombocytopenia Flexion contracture Pneumonia Weight loss Intellectual disability, severe Abnormality of the lymphatic system Duodenal stenosis Prominent forehead Clinodactyly Syndactyly Short palm Atrial septal defect Ventricular septal defect Abnormality of the skeletal system Thin upper lip vermilion Downslanted palpebral fissures Intrauterine growth retardation Wide nasal bridge Proptosis Short philtrum Intellectual disability, moderate Wide nose Pulmonary edema Ambiguous genitalia Complete atrioventricular canal defect Specific learning disability Short middle phalanx of the 5th finger Underdeveloped nasal alae Limitation of joint mobility Hypodontia Myeloproliferative disorder Hirsutism Postnatal growth retardation Bulbous nose Thin vermilion border Smooth philtrum Toe syndactyly Synophrys Finger syndactyly Broad forehead Prominent nasal bridge Micrognathia Abnormal facial shape Upper limb asymmetry Shallow acetabular fossae Renal agenesis Atlantoaxial instability Abnormality of color vision Abnormality of the voice Reduced number of teeth Anosmia Crackles Primary amenorrhea Decreased testicular size Ichthyosis Anterior hypopituitarism Pes planus Skeletal dysplasia Pes cavus Transient myeloproliferative syndrome Brushfield spots Round ear Ptosis Left-to-right shunt Hyposmia Abnormality of female internal genitalia Hypertelorism Hamartoma Fine hair Lymphangioma Excessive wrinkled skin Visceral angiomatosis Venous insufficiency Lower limb asymmetry Arteriovenous malformation Abnormality of the fontanelles or cranial sutures Subcutaneous nodule Neutrophilia Papule Congestive heart failure Macrocephaly Hypothalamic gonadotropin-releasing hormone deficiency Erectile abnormalities Dyspareunia Bimanual synkinesia Breast hypoplasia Small nail Postnatal microcephaly Hypertrichosis Enlarged epiphyses Hypertension Postural instability Depressed nasal bridge Macroglossia Thick lower lip vermilion Hearing impairment 2-4 toe syndactyly Frontal hirsutism Clinodactyly of the 5th toe Myopia Aplastic/hypoplastic toenail Depressed nasal ridge Open mouth Aganglionic megacolon Narrow palate Sandal gap Renal hypoplasia/aplasia Cholelithiasis Epicanthus Neutropenia Anteverted ears Narrow mouth Anal atresia Postaxial polydactyly Hypotrichosis Microtia Joint laxity Hydronephrosis Conductive hearing impairment Umbilical hernia Upslanted palpebral fissure Short neck Dementia Abnormal heart morphology Downturned corners of mouth Malar flattening Short nose Abnormality of the dentition Edema Hydrocephalus Narrow naris Alzheimer disease Decreased body weight Thrombocytosis Aphasia Dysphasia Supernumerary nipple Short middle phalanx of finger Mutism Widely spaced teeth Cutaneous syndactyly Short chin Thickened nuchal skin fold Abnormality of digit Double outlet right ventricle Hypoplastic iliac wing Senile plaques Finger clinodactyly Acute monocytic leukemia Generalized hirsutism Hypoxemia Flat face Narrow nasal bridge Cutaneous finger syndactyly Hydroureter Abnormality of blood and blood-forming tissues Congenital microcephaly Cutaneous syndactyly of toes Atrioventricular canal defect Scapuloperoneal weakness Broad palm Transposition of the great arteries Broad columella Echolalia Abnormality of immune system physiology Protruding tongue Impaired pain sensation High anterior hairline Low hanging columella Congenital hypothyroidism Narrow nose Limb hypertonia Neurofibrillary tangles Polycythemia Limb dystonia Sensorineural hearing impairment B-cell lymphoma Scapuloperoneal amyotrophy Pancreatic adenocarcinoma Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Agnosia Glioblastoma multiforme Leiomyosarcoma Hyperreflexia Amaurosis fugax Dysgraphia Prostate cancer Intestinal polyposis Pituitary adenoma Neoplasm of the pancreas Neuroblastoma Colon cancer Visual field defect Low-set ears Posteriorly rotated ears Increased intracranial pressure Peripheral axonal neuropathy Chorioretinal atrophy Sensory axonal neuropathy Horizontal nystagmus Clumsiness Sparse scalp hair Pigmentary retinopathy Growth hormone deficiency Retinal degeneration Pallor Jaundice Hypoglycemia Hypogonadism Rod-cone dystrophy Neurogenic bladder Inverted nipples Prolonged neonatal jaundice Spastic paraparesis Nephrocalcinosis Paraparesis Basal cell carcinoma Hallucinations Progressive gait ataxia Hyperactivity Spastic tetraplegia Febrile seizures Tetraplegia Iris coloboma Lethargy Coloboma Autistic behavior Autism Agenesis of corpus callosum Leukopenia Encephalopathy Cerebral atrophy Microphthalmia Diarrhea Ventriculomegaly Fever Hepatomegaly Motor delay Delayed speech and language development Aspiration Delayed gross motor development Memory impairment Abdominal pain Gastrointestinal hemorrhage Migraine Dyskinesia Paresthesia Nausea and vomiting Malabsorption Attention deficit hyperactivity disorder Abnormal pyramidal sign Irritability Constipation Hypoventilation Depressivity Behavioral abnormality Fatigue Uraciluria Reduced dihydropyrimidine dehydrogenase activity Recurrent aspiration pneumonia Stomatitis Diffuse cerebral atrophy Aspiration pneumonia Retinal atrophy Recurrent hypoglycemia Peroneal muscle atrophy Recurrent bronchitis Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis Renal neoplasm Chromosome breakage Conjunctival telangiectasia Recurrent lower respiratory tract infections Severe combined immunodeficiency Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Myeloid leukemia Abnormality of the immune system Telangiectasia of the skin Multiple cafe-au-lait spots Abnormality of chromosome stability Chronic myelogenous leukemia Resting tremor Decreased/absent ankle reflexes Shoulder girdle muscle atrophy Foot dorsiflexor weakness Muscular dystrophy Facial palsy Talipes equinovarus Dysphagia Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Immunoglobulin IgG2 deficiency Abnormal spermatogenesis Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Aplasia/Hypoplasia of the skin Premature graying of hair Titubation Elevated hepatic transaminase Lymphoma Chorea Abnormal cerebellum morphology Unsteady gait Abnormality of movement Abnormality of eye movement Abnormality of the liver Respiratory tract infection Difficulty walking Hepatitis Diabetes mellitus Myoclonus Recurrent respiratory infections Immunodeficiency Scoliosis Central heterochromia Long eyebrows Choroideremia Alopecia areata Decreased antibody level in blood Apraxia Combined immunodeficiency Truncal ataxia Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Abnormality of the hair Pancytopenia Lymphopenia Abnormal vertebral morphology Sinusitis Cafe-au-lait spot Limb ataxia Bronchiectasis Telangiectasia Choreoathetosis Intention tremor Acute megakaryocytic leukemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Kyphosis, related diseases and genetic alterations Lymphoma and Irritability, related diseases and genetic alterations Epicanthus and Agenesis of corpus callosum, related diseases and genetic alterations Flexion contracture and Short neck, related diseases and genetic alterations

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