Carcinoma, and Cerebral calcification

Diseases related with Carcinoma and Cerebral calcification

In the following list you will find some of the most common rare diseases related to Carcinoma and Cerebral calcification that can help you solving undiagnosed cases.


Top matches:

Medium match LIPOID PROTEINOSIS


Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

Medium match PAPILLON-LEFÈVRE SYNDROME


Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

PAPILLON-LEFÈVRE SYNDROME Is also known as keratosis palmoplantar-periodontopathy syndrome|pls|keratosis palmoplantaris with periodontopathia

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Recurrent respiratory infections
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PAPILLON-LEFÈVRE SYNDROME

Medium match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

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Other less relevant matches:

Medium match LINEAR NEVUS SEBACEUS SYNDROME


Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Medium match KEUTEL SYNDROME


Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Medium match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Medium match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match HYPERPARATHYROIDISM 1; HRPT1


Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015). Genetic Heterogeneity of Familial HyperparathyroidismHyperparathyroidism-2 with jaw tumors (HRPT2 ), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3 ) has been mapped to chromosome 2p14-p13.3. HRPT4 (OMIM ) is caused by mutation in the GCM2 gene (OMIM ) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT ) is caused by mutation in the CASR gene (OMIM ) on chromosome 3q.Familial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).Familial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism.

HYPERPARATHYROIDISM 1; HRPT1 Is also known as fihp|hyperparathyroidism, familial isolated primary

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Osteopenia
  • Carcinoma
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM 1; HRPT1

Low match HEREDITARY CHRONIC PANCREATITIS


Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.

HEREDITARY CHRONIC PANCREATITIS Is also known as hp|pancreatitis, chronic|hpc

Related symptoms:

  • Neoplasm
  • Pain
  • Fever
  • Vomiting
  • Diabetes mellitus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY CHRONIC PANCREATITIS

Low match HYPERPARATHYROIDISM-JAW TUMOR SYNDROME


Hyperparathyroidism-jaw tumor syndrome is a rare autosomal dominant disorder characterized by synchronous or metachronous occurrence of primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer (summary by Shibata et al., 2015).For a discussion of genetic heterogeneity of hyperparathyroidism, see HRPT1 (OMIM ).

HYPERPARATHYROIDISM-JAW TUMOR SYNDROME Is also known as hyperparathyroidism-jaw tumor syndrome, hereditary|hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas|hpt-jt

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM-JAW TUMOR SYNDROME

Top 5 symptoms//phenotypes associated to Carcinoma and Cerebral calcification

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Cerebral calcification. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the dentition Carious teeth Nevus Abnormality of the kidney Polycystic kidney dysplasia Hypopigmentation of the skin Hearing impairment Fibroma Neoplasm of the endocrine system Global developmental delay Short stature Hypotrichosis Hyperparathyroidism Osteoporosis Papule Respiratory distress Recurrent respiratory infections Dilatation Renal insufficiency

Rare Symptoms - Less than 30% cases


Nephrolithiasis Hydrocephalus Vomiting Parathyroid hyperplasia Gliosis Intellectual disability, mild Renal cyst Parathyroid adenoma Headache Elevated circulating parathyroid hormone level Nausea Hypercalciuria Glaucoma Hypercalcemia Attention deficit hyperactivity disorder Hypophosphatemia Respiratory failure Peptic ulcer Nephrocalcinosis Optic atrophy Pancreatic adenocarcinoma Frontal bossing Horseshoe kidney Recurrent fractures Iris coloboma Coloboma Telecanthus EEG abnormality Osteopenia Kyphoscoliosis Melanocytic nevus Microphthalmia Syndactyly Ventriculomegaly Basal cell carcinoma Precocious puberty Growth delay Abdominal pain Cardiac rhabdomyoma Hyperphosphaturia Adenoma sebaceum Astrocytoma Brain neoplasm Skin tags Renal cell carcinoma Hamartoma Nephroblastoma Aortic aneurysm Hypertension Primary hyperparathyroidism Parathyroid carcinoma Ataxia Thyroid carcinoma Palmoplantar keratoderma Arachnodactyly Nail dystrophy Hyperhidrosis Hyperpigmentation of the skin Pustule Microcephaly Subcutaneous nodule Neoplasm of the skin Strabismus Cataract Memory impairment Scarring Respiratory tract infection Cryptorchidism Abnormality of the nervous system Hyperkeratosis Dysphagia Recurrent pancreatitis Exotropia Fragile nails Premature loss of teeth Dermal atrophy Pancreatitis Squamous cell carcinoma Hepatosplenomegaly Muscular hypotonia of the trunk Proptosis Polydactyly Postnatal growth retardation Brachycephaly Pectus excavatum Visual loss Abnormality of the skeletal system Downslanted palpebral fissures Leukemia Macrocephaly Small for gestational age Abnormality of skin pigmentation Wide nasal bridge Brachydactyly Dysarthria Mandibular prognathia Neonatal respiratory distress Retrognathia Cleft lip Hyporeflexia Hodgkin lymphoma Cerebellar hypoplasia Postaxial polydactyly Oral cleft Cleft upper lip Sparse hair Facial palsy Cerebral cortical atrophy Blepharitis Motor delay Acute myeloid leukemia Myeloid leukemia Restrictive ventilatory defect Increased antibody level in blood Chromosome breakage Abnormality of coagulation Proteinuria Premature graying of hair Coarse facial features Epicanthus Cleft palate Spasticity Excessive wrinkled skin Bone marrow hypocellularity Pulmonary fibrosis Reticular hyperpigmentation Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Flared metaphysis Hypotension Phimosis Conjunctivitis Ridged nail Sparse eyelashes Leukopenia Testicular atrophy Epiphora Abnormal intestine morphology Anosmia Pterygium Abnormal leukocyte morphology Reticulated skin pigmentation Myelodysplasia Split nail Micrognathia Oral leukoplakia Cirrhosis Hypertelorism Scoliosis Anal mucosal leukoplakia Sepsis Gastrointestinal hemorrhage Pterygium of nails Generalized hypopigmentation of hair Truncal ataxia Generalized hyperpigmentation Fragile teeth Oligohydramnios Brittle scalp hair Decreased fetal movement Pancytopenia Sparse scalp hair Telangiectasia Aplastic anemia Decreased testicular size Broad face Abnormality of the ribs Aminoaciduria Portal vein thrombosis Chronic pancreatitis Elevated C-reactive protein level Abnormal thrombosis Peritonitis Neoplasm of the pancreas Exocrine pancreatic insufficiency Steatorrhea Leukocytosis Pleural effusion Type I diabetes mellitus Pancreatic calcification Jaundice Weight loss Diabetes mellitus Fever Polyarticular chondrocalcinosis Elevated alkaline phosphatase of bone origin Calcium nephrolithiasis Abnormality of the parathyroid gland Mitral valve calcification Aortic valve calcification Retinoblastoma Abnormal enzyme/coenzyme activity Pancreatic pseudocyst Generalized osteoporosis Testicular neoplasm Hurthle cell thyroid adenoma Abnormality of the parathyroid morphology Renal hamartoma Ossifying fibroma Renal cortical adenoma Mandibular pain Uterine leiomyoma Infantile hypercalcemia Papillary renal cell carcinoma Shortened QT interval Thyroid adenoma Abnormality of the head Chronic calcifying pancreatitis Chondrocalcinosis Episodic abdominal pain Lipoma Polydipsia Bone pain Nausea and vomiting Arthralgia Constipation Fatigue Muscle weakness Splanchnic vein thrombosis Carcinoid tumor Breast carcinoma Hemiparesis Milia Abnormality of the neck Short 4th metacarpal Down-sloping shoulders Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Colitis Vertebral fusion Agenesis of permanent teeth Long fingers Disproportionate tall stature Ulcerative colitis Inflammation of the large intestine Nephritis Glomerulonephritis Relative macrocephaly Spina bifida occulta Hemivertebrae Hypogonadotrophic hypogonadism Muscle stiffness Short ribs Spina bifida Bradycardia Thrombocytopenia Medulloblastoma Left ventricular hypertrophy Calcification of falx cerebri Ventricular hypertrophy Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Bifid ribs Curved fingers Histiocytoma Orbital cyst Ectopic calcification Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Hamartomatous polyposis Cervical ribs Supernumerary ribs Hypospadias Growth abnormality Immunodeficiency Sleep disturbance Tachypnea Cafe-au-lait spot Hypoplasia of dental enamel Heterotopia Cardiomegaly Generalized-onset seizure Specific learning disability Focal-onset seizure Brain atrophy Chest pain Retinal detachment Infantile spasms Abnormality of the cerebral white matter Cough Stroke Skin rash Autistic behavior Irritability Intellectual disability, moderate Dyspnea Hypothyroidism Autism Hyperactivity CNS hypomyelination Hyperventilation Behavioral abnormality Angiofibromas Subungual fibromas Rhabdomyoma Connective tissue nevi Pulmonary lymphangiomyomatosis Chordoma Cortical tubers Ungual fibroma Dental enamel pits Hypomelanotic macule Subependymal nodules Optic nerve glioma Renal angiomyolipoma Abnormality of the respiratory system Premature chromatid separation Ependymoma Shagreen patch Flank pain Chylothorax Gingival fibromatosis Pneumothorax Wolff-Parkinson-White syndrome White hair Renal neoplasm Generalized hypopigmentation Arrhythmia Congestive heart failure Projection of scalp hair onto lateral cheek Fragile skin Hoarse cry Abnormality of the gingiva Patchy alopecia Paranoia Abnormal oral mucosa morphology Nasal polyposis Verrucae Microglossia Delusions Alopecia of scalp Acne Bilateral intracranial calcifications Oral-pharyngeal dysphagia Oligodontia Hoarse voice Hallucinations Thickened skin Thick lower lip vermilion Abnormal blistering of the skin Aggressive behavior Absent speech Dystonia High palate Tongue nodules Erythema Atrophy of alveolar ridges Gingivitis Halitosis Chronic furunculosis Severe periodontitis Choroid plexus calcification Recurrent cutaneous abscess formation Cigarette-paper scars Liver abscess Plantar hyperkeratosis Premature loss of primary teeth Stomatitis Periodontitis Sparse body hair Hypertrichosis Keratitis Scaling skin Reduced number of teeth Palmoplantar hyperkeratosis Recurrent skin infections Melanoma Hypopigmented skin patches Osteolysis Abnormality of the fingernails Generalized hirsutism Abnormality of the nail Achromatic retinal patches Muscular hypotonia Hypertonia Short thumb Recurrent sinusitis Mixed hearing impairment Emphysema Nasal speech Deep philtrum Progressive hearing impairment Cutis laxa Spontaneous abortion Leukodystrophy Sinusitis Short phalanx of finger Irregular vertebral endplates Recurrent otitis media Pulmonary arterial hypertension Sloping forehead Otitis media Underdeveloped nasal alae Asthma Wide nose Short distal phalanx of finger Long face Infertility Pulmonic stenosis Epiphyseal stippling Pulmonary artery stenosis Macrotia Tracheal atresia Intrauterine growth retardation Visual impairment Anemia Failure to thrive Generalized hypotonia Cartilaginous ossification of larynx Premature fusion of phalangeal epiphyses Cartilaginous ossification of nose Calcification of the auricular cartilage Costal cartilage calcification Soft, doughy skin Calcification of cartilage Chronic sinusitis Arterial calcification Pulmonary artery hypoplasia Obstructive lung disease Abdominal aortic aneurysm Papillary thyroid carcinoma Short nail Shortening of all distal phalanges of the fingers Peripheral pulmonary artery stenosis Chronic obstructive pulmonary disease Recurrent bronchitis Short hallux Hydronephrosis Midface retrusion Hyperreflexia Overgrowth Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Rickets Abnormality of vision Hemangioma Aplasia/Hypoplasia of the corpus callosum Reduced tendon reflexes Plagiocephaly Pachygyria Coarctation of aorta Dandy-Walker malformation Vertebral segmentation defect Generalized muscle weakness Ichthyosis Talipes Facial asymmetry Ophthalmoplegia Corneal opacity Abnormality of the eye Agenesis of corpus callosum Blindness Talipes equinovarus Hepatomegaly Prominent occiput Neurofibromas Malar flattening Cranial asymmetry Ventricular septal defect Depressed nasal bridge Abnormal facial shape Nevus sebaceus Linear nevus sebaceous Odontogenic neoplasm Odontoma Abnormality of toe Nevus sebaceous Epidermal nevus Hemimegalencephaly Abnormality of dental color Biparietal narrowing Asymmetric growth Cavernous hemangioma Porencephalic cyst Hypophosphatemic rickets Hemihypertrophy Abnormality of finger Gangrene Genu recurvatum Dilatation of the cerebral artery Irregular hyperpigmentation Osteomalacia Ossifying fibroma of the jaw



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