Carcinoma, and EEG abnormality

Diseases related with Carcinoma and EEG abnormality

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


Top matches:

Low 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

Low match XERODERMA PIGMENTOSUM


Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

Low 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

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Other less relevant matches:

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match THYROID CARCINOMA, HURTHLE CELL


Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998).Hurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm (Maximo et al., 2005).

THYROID CARCINOMA, HURTHLE CELL Is also known as hurthle cell thyroid neoplasia

Related symptoms:

  • Carcinoma


SOURCES: MESH OMIM MENDELIAN

More info about THYROID CARCINOMA, HURTHLE CELL

Low match NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3


Nasopharyngeal carcinoma (NPCA) is a malignant tumor that emerges from the epithelium of the nasopharynx. It has a high incidence in southern China, and evidence suggests that there may be a genetic component that underlies familial clustering. Some patients have onset before 20 years of age (summary by Dai et al., 2016)For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma


SOURCES: OMIM MENDELIAN

More info about NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3

Low match SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC


Cancer of the head and neck that begins in squamous cells (thin, flat cells that form the surface of the skin, eyes, various internal organs, and the lining of hollow organs and ducts of some glands). Squamous cell carcinoma of the head and neck includes cancers of the nasal cavity, sinuses, lips, mouth, salivary glands, throat, and larynx (voice box). Most head and neck cancers are squamous cell carcinomas.

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Squamous cell carcinoma


SOURCES: OMIM MENDELIAN

More info about SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC

Low match BLOOD GROUP, CROMER SYSTEM; CROM


The Cromer blood group system (CROM) consists of 12 high-prevalence and 3 low-prevalence antigens that reside on decay-accelerating factor (DAF, or CD55; {125240}), a regulator of complement activation. Nearly all Cromer antigens result from SNPs in the DAF gene. The red blood cells (RBCs) of people with the Cromer-null phenotype, Inab, lack DAF but do not appear to show increased susceptibility to hemolysis. Antibodies to Cromer antigens are rarely encountered, although evidence suggests that the antibodies may cause accelerated destruction of transfused RBCs. Cromer system antibodies are not associated with hemolytic disease of the newborn, because placenta is a rich source of fetally derived DAF, which is thought to absorb the antibodies (review by Storry et al., 2010).The Inab phenotype is associated with CHAPLE syndrome (OMIM ) in some individuals.

BLOOD GROUP, CROMER SYSTEM; CROM Is also known as cromer blood group system

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Abnormal intestine morphology
  • Protein-losing enteropathy


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, CROMER SYSTEM; CROM

Low match PILOMATRIXOMA


Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).

PILOMATRIXOMA Is also known as epithelioma calcificans of malherbe|pilomatricoma|ptr

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Neoplasm of the skin
  • Pilomatrixoma


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PILOMATRIXOMA

Low match THYROID CANCER, NONMEDULLARY, 2; NMTC2


Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell (OMIM ), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, {175100}, Carney complex, {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009).Follicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria (summary by Bonora et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Carcinoma
  • Medullary thyroid carcinoma
  • Follicular thyroid carcinoma


SOURCES: MESH OMIM MENDELIAN

More info about THYROID CANCER, NONMEDULLARY, 2; NMTC2

Top 5 symptoms//phenotypes associated to Carcinoma and EEG abnormality

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Neoplasm of the skin Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Reduced tendon reflexes Uncommon - Between 30% and 50% cases
Melanocytic nevus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and EEG abnormality. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Basal cell carcinoma Short stature Squamous cell carcinoma Strabismus Alopecia Scoliosis

Rare Symptoms - Less than 30% cases


Hearing impairment Microcephaly Ataxia Exotropia Failure to thrive Cataract Cryptorchidism Anemia Spasticity Cognitive impairment Nevus Abnormality of the dentition Delayed skeletal maturation Epicanthus Wide nasal bridge Abnormality of the skeletal system Brachycephaly Sparse hair Hypotrichosis Abnormality of the ribs Seizures Cerebral calcification Short ribs Syndactyly Muscular hypotonia Microphthalmia Dilatation Growth delay Frontal bossing Iris coloboma Kyphoscoliosis Hepatomegaly Hypopigmentation of the skin Telecanthus Coloboma Macrotia Arthrogryposis multiplex congenita Skeletal dysplasia Joint laxity Low-set, posteriorly rotated ears Hyperlordosis Prominent forehead Severe short stature Abnormal cardiac septum morphology Pectus carinatum Leukemia Narrow chest Malabsorption Convex nasal ridge Aganglionic megacolon Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Fine hair Blue sclerae Lumbar hyperlordosis Decreased antibody level in blood Constipation Gastrointestinal hemorrhage Lymphoma Postural instability Neutropenia Small hand Short palm Joint hypermobility Micromelia Joint hyperflexibility Pneumonia Immunodeficiency Thrombocytopenia Vertebral wedging Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Abnormality of the sense of smell Curved fingers Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Histiocytoma Bifid ribs Recurrent infections Hypertension Abnormality of epiphysis morphology Splenomegaly Diarrhea Cardiomyopathy Short neck Respiratory insufficiency Anteverted nares Myopia Depressed nasal bridge Cardiac rhabdomyoma Visual impairment Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Bronchiectasis Generalized muscle weakness Rhizomelia Hypersplenism Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Normocytic anemia Abnormality of the distal phalanx of finger Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Abnormal T cell morphology Narrow vertebral interpedicular distance Aplasia/Hypoplasia of the abdominal wall musculature Susceptibility to chickenpox Follicular thyroid carcinoma Medullary thyroid carcinoma Abnormality of metabolism/homeostasis Pilomatrixoma Protein-losing enteropathy Abnormal intestine morphology Pulmonary lymphoma Flaring of lower rib cage Long fibula Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Aplasia/Hypoplasia affecting the eye Abnormality of the pancreas Abnormality of retinal pigmentation Disproportionate short-limb short stature Mesomelia Short thorax Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Sacral dimple Limited elbow extension Abnormal palate morphology Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Lymphopenia Sparse and thin eyebrow Broad face Gingival overgrowth Femoral bowing Tibial bowing Aplastic anemia Thrombocytosis B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Heart block Upper limb undergrowth Overweight Exocrine pancreatic insufficiency Abnormality of the hip bone Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Ulcerative colitis Narrow nose Neoplasm of the endocrine system Osteopenia Hypogonadism Hyporeflexia Fatigue Optic atrophy Fever Peripheral neuropathy Agenesis of corpus callosum Abnormality of the nervous system Hyperkeratosis Sensorineural hearing impairment Abnormality of the eye Attention deficit hyperactivity disorder Corneal opacity Ophthalmoplegia Facial asymmetry Nevus sebaceus Cerebral cortical atrophy Arthralgia Odontogenic neoplasm Thin skin Opacification of the corneal stroma Conjunctivitis Aminoaciduria Bone marrow hypocellularity Abnormal vertebral morphology Thickened skin Telangiectasia Choreoathetosis Photophobia Cutaneous photosensitivity Abnormality of extrapyramidal motor function Decreased testicular size Dry skin Erythema Developmental regression Mental deterioration Linear nevus sebaceous Odontoma Melanoma Abnormality of vision Vertebral segmentation defect Prominent occiput Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Ichthyosis Rickets Precocious puberty Hemangioma Neurofibromas Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Horseshoe kidney Pachygyria Coarctation of aorta Recurrent fractures Overgrowth Talipes Biparietal narrowing Abnormality of toe Cavernous hemangioma Nevus sebaceous Epidermal nevus Hemimegalencephaly Cranial asymmetry Abnormality of dental color Adenoma sebaceum Asymmetric growth Porencephalic cyst Osteomalacia Hypophosphatemic rickets Hyperphosphaturia Hemihypertrophy Abnormality of finger Gangrene Genu recurvatum Dilatation of the cerebral artery Irregular hyperpigmentation Intellectual disability, progressive Hypopigmented skin patches Abnormality of the neck Palmoplantar keratoderma Muscle stiffness Global developmental delay Spina bifida Bradycardia Hyperpigmentation of the skin Hemiparesis Hypotension Postaxial polydactyly Hemivertebrae Oral cleft Cleft upper lip Arachnodactyly Carious teeth Papule Hyperreflexia Facial palsy Hypogonadotrophic hypogonadism Spina bifida occulta Proteinuria Abnormality of the sternum Short 4th metacarpal Skin tags Down-sloping shoulders Fragile nails Dandy-Walker malformation Sprengel anomaly Thoracic scoliosis Colitis Relative macrocephaly Vertebral fusion Agenesis of permanent teeth Long fingers Milia Disproportionate tall stature Inflammation of the large intestine Nephritis Glomerulonephritis Cleft lip Coarse facial features Dermal atrophy Blepharitis Defective DNA repair after ultraviolet radiation damage Ankyloblepharon Papilloma Conjunctival telangiectasia Entropion Craniofacial hyperostosis Poikiloderma Telangiectasia of the skin Flat nasal alae Freckling Macule Hypermelanotic macule Blindness Keratitis Ectropion Pterygium Neoplasm of the eye Hypertelorism Retrognathia Hydrocephalus Mandibular prognathia Proptosis Polydactyly Glaucoma Abdominal pain Visual loss Pectus excavatum Downslanted palpebral fissures Micrognathia Macrocephaly Talipes equinovarus Brachydactyly Dysarthria Ventriculomegaly Motor delay Pain Cleft palate Non-medullary thyroid carcinoma



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