Carcinoma, and Autistic behavior

Diseases related with Carcinoma and Autistic behavior

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


Top matches:

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

Medium match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match OCULOCUTANEOUS ALBINISM TYPE 6


Oculocutaneous albinism type 6 (OCA6) is a type of oculocutaneous albinism, recently discovered in one Chinese family, characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity and that is due to mutations in the SLC24A5 gene (15q21.1).

OCULOCUTANEOUS ALBINISM TYPE 6 Is also known as oca6

Related symptoms:

  • Nystagmus
  • Strabismus
  • Visual impairment
  • Reduced visual acuity
  • Photophobia


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCUTANEOUS ALBINISM TYPE 6

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Other less relevant matches:

Low match PARAGANGLIOMAS 4; PGL4


PARAGANGLIOMAS 4; PGL4 Is also known as paraganglioma, familial malignant|pheochromocytoma, extraadrenal, and cervical paraganglioma|carotid body tumors and multiple extraadrenal pheochromocytomas|pheochromocytoma, familial extraadrenal|paragangliomas, hereditary extraadrenal

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 4; PGL4

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC


Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993).For a general discussion of xeroderma pigmentosum, see XPA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC Is also known as xp, group c|xp3|xpcc|xeroderma pigmentosum iii

Related symptoms:

  • Neoplasm
  • Hyperactivity
  • Photophobia
  • Carcinoma
  • Abnormality of the nervous system


SOURCES: OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

Low match PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1


Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..

PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1 Is also known as palmoplantar keratoderma, punctate type i|ppkp1|keratodermia palmoplantaris papulosa, buschke-fischer-brauer type|buschke-fischer-brauer syndrome|keratosis palmoplantaris papulosa|kppp1

Related symptoms:

  • Neoplasm
  • Pain
  • Dilatation
  • Depressivity
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1


Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1|cushing syndrome, adrenal, due to ppnad1|adrenocortical nodular dysplasia, primary

Related symptoms:

  • Neoplasm
  • Hypertension
  • Kyphosis
  • Obesity
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

Low match PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

Low match GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY


Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Low match CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2


Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency

Related symptoms:

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

Top 5 symptoms//phenotypes associated to Carcinoma and Autistic behavior

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

Patients with Carcinoma and Autistic behavior. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatocellular carcinoma Tremor Neoplasm of the skin Intellectual disability, moderate Hypopigmentation of the skin Hyperactivity Dilatation Headache Intellectual disability, mild Melanoma Hypertension

Rare Symptoms - Less than 30% cases


Skin tags Telangiectasia Squamous cell carcinoma Hamartoma Low-set ears Cafe-au-lait spot Basal cell carcinoma Subcutaneous nodule Hypertelorism Astrocytoma Anxiety Generalized hypopigmentation Papule Hodgkin lymphoma Cranial nerve paralysis Fibroma Adenoma sebaceum Edema Hypopigmented skin patches Abnormality of the liver Breast carcinoma Melanocytic nevus Cutaneous photosensitivity Heterotopia Thickened skin Thin skin Depressivity Transitional cell carcinoma of the bladder Hydrocephalus Vomiting Congestive heart failure Behavioral abnormality Palmoplantar keratoderma Obesity Autism Hypothyroidism Kyphosis Abnormality of the kidney Irritability Skin rash Diarrhea Hepatic steatosis Bruising susceptibility Hypertrichosis Photophobia Nevus Strabismus Psychosis Papilloma Conjunctivitis Squamous cell carcinoma of the skin Abnormality of the nail Epidermal acanthosis Entropion Defective DNA repair after ultraviolet radiation damage Poikiloderma Hyperkeratosis Dermal atrophy Systemic lupus erythematosus Freckling Ectropion Keratitis Abnormality of the nervous system Abnormality of the skin Cutaneous melanoma Tachycardia Elevated urinary catecholamines Multiple trichilemmomata Albinism Abnormality of the hair Abnormal bleeding Reduced visual acuity Visual impairment Nystagmus Lobular carcinoma in situ Merkel cell skin cancer Hypoplasia of the fovea Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Severe vision loss Abnormal fundus morphology Paraganglioma of head and neck Recurrent paroxysmal headache Glomus jugular tumor Extraadrenal pheochromocytoma Chemodectoma Hypertension associated with pheochromocytoma Adrenal pheochromocytoma Episodic paroxysmal anxiety Pulsatile tinnitus Gastrointestinal stroma tumor Aplasia/Hypoplasia of the macula Paraganglioma Pheochromocytoma Neuroblastoma Palpitations Hyperhidrosis Actinic keratosis Abnormal foveal morphology on macular OCT Abnormal iris pigmentation Scaling skin Increased circulating cortisol level Colon cancer Asthma Coma Confusion Lethargy Aggressive behavior Elevated hepatic transaminase Poor coordination Aciduria Acidosis Hypertriglyceridemia Agenesis of corpus callosum Abnormality of metabolism/homeostasis Talipes equinovarus Hyperreflexia Hyperpigmentation in sun-exposed areas Porphyrinuria Viral hepatitis Memory impairment Cholestasis Congenital hypoplastic anemia Delusions Delayed menarche Delirium Mania Cerebral edema Enuresis Echolalia Intrahepatic cholestasis Insomnia Decreased liver function Drowsiness Restlessness Hypoalbuminemia Hyperammonemia Pancreatitis Hepatic fibrosis Hallucinations Facial hypertrichosis Alcoholism Parakeratosis Agitation Adrenocortical carcinoma Decreased circulating ACTH level Mood changes Adrenal hyperplasia Mucosal telangiectasiae Striae distensae Truncal obesity Round face Primary hypercortisolism Mental deterioration Osteopenia Cerebral cortical atrophy Osteoporosis Orthokeratosis Hypergranulosis Neoplasm of the pancreas Moon facies Pigmented micronodular adrenocortical disease Anemia of inadequate production Hyperpigmentation of the skin Onycholysis Atypical scarring of skin Scleroderma Fragile skin Skin vesicle Cerebral palsy Generalized hirsutism Inflammatory abnormality of the skin Paradoxical increased cortisol secretion on dexamethasone suppression test Hepatitis Abnormal blistering of the skin Sudden cardiac death Hemolytic anemia Cirrhosis Erythema Alopecia Anemia Acrokeratosis Ovarian cyst Pseudopapilledema Hypomelanotic macule Connective tissue nevi Pulmonary lymphangiomyomatosis Chordoma Cortical tubers Cardiac rhabdomyoma Ungual fibroma Dental enamel pits Subependymal nodules Subungual fibromas Optic nerve glioma Angiofibromas Renal angiomyolipoma Premature chromatid separation Ependymoma Shagreen patch Flank pain Rhabdomyoma Achromatic retinal patches Gingival fibromatosis Muscle weakness Myopia Brachydactyly Motor delay Delayed speech and language development High palate Cognitive impairment Cataract Micrognathia Projection of scalp hair onto lateral cheek Failure to thrive Ataxia Scoliosis Hearing impairment Generalized hypotonia Short stature Global developmental delay Chylothorax Pneumothorax Macrocephaly Stroke Chest pain Renal cyst Sleep disturbance Retinal detachment Nausea Abnormality of the cerebral white matter Cough Attention deficit hyperactivity disorder Brain atrophy Dyspnea Respiratory failure Glaucoma Arrhythmia Renal insufficiency Respiratory distress Gliosis Focal-onset seizure Brain neoplasm Aortic aneurysm Wolff-Parkinson-White syndrome White hair Renal neoplasm Abnormality of the respiratory system Hyperventilation Infantile spasms Nephroblastoma Precocious puberty Specific learning disability Polycystic kidney dysplasia CNS hypomyelination Tachypnea Hypoplasia of dental enamel Cardiomegaly Generalized-onset seizure Cerebral calcification Skeletal muscle atrophy Downslanted palpebral fissures Progressive macrocephaly Prolactin excess Intestinal polyposis Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Papilledema Cellular immunodeficiency Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Thyroiditis Ovarian neoplasm Hyperthyroidism Bone cyst Long penis Multiple cafe-au-lait spots Angioid streaks of the fundus Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Abnormality of the penis Cavernous hemangioma Subcutaneous lipoma Colonic diverticula Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Hamartomatous polyposis Enlarged polycystic ovaries Acute myeloid leukemia Cellulitis Frontal bossing Nausea and vomiting Decreased antibody level in blood Lymphoma Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Polymicrogyria Joint hypermobility Leukemia Intention tremor Proximal muscle weakness Narrow mouth Pectus excavatum Recurrent infections Immunodeficiency Myopathy Atrial septal defect Overgrowth Broad thumb Cystic hygroma Incoordination Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Palmoplantar hyperkeratosis Chronic diarrhea Goiter Increased intracranial pressure Hemangioma Drooling Lymphopenia Gynecomastia Exotropia Hypoargininemia



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