Carcinoma, and Poor speech

Diseases related with Carcinoma and Poor speech

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


Top matches:

Medium match PENDRED SYNDROME


Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

PENDRED SYNDROME Is also known as thyroid hormonogenesis, genetic defect in, 2b|goiter-deafness syndrome|deafness with goiter|tdh2b|hypothyroidism, congenital, due to dyshormonogenesis, 2b|thyroid dyshormonogenesis 2b

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Respiratory insufficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PENDRED SYNDROME

Medium 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

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

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Other less relevant matches:

Medium match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Medium match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

Medium match MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES


Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|olms|olmsted syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES

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 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

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

Medium match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Top 5 symptoms//phenotypes associated to Carcinoma and Poor speech

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

Patients with Carcinoma and Poor speech. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Papule Irritability Abnormality of the liver Memory impairment Hallucinations Hearing impairment Hyperkeratosis Cognitive impairment Global developmental delay Failure to thrive Strabismus Scoliosis Hyperhidrosis Cafe-au-lait spot Flexion contracture Abnormality of the dentition Sparse hair Tremor Weight loss Neurological speech impairment Ataxia

Rare Symptoms - Less than 30% cases


Fragile nails IgE deficiency Chronic hepatitis Recurrent lower respiratory tract infections IgA deficiency Short stature Microcephaly Nystagmus Choreoathetosis Spasticity Decreased antibody level in blood Sepsis Recurrent infections Fatigue Immunodeficiency Hypertelorism Hepatomegaly Anemia Micrognathia Abnormality of the gingiva Delayed puberty Abnormal oral mucosa morphology Verrucae Relative macrocephaly Hoarse voice Hypertension Proteinuria Neuroblastoma Sensorineural hearing impairment Neoplasm of the skin Abnormality of the fingernails Curly hair Epidermal acanthosis Palmoplantar keratoderma Carious teeth Hypotrichosis Joint laxity Osteoporosis Severe short stature Delayed skeletal maturation Respiratory insufficiency Thick lower lip vermilion Pain Growth delay Muscular hypotonia Gait disturbance Abdominal pain Neoplasm of the endocrine system Anxiety Hemangioma Hematuria Tachycardia Breast carcinoma Basal cell carcinoma Thickened skin Hydrocephalus Cerebral calcification Kyphoscoliosis High palate Hyperpigmentation of the skin Epicanthus Abnormality of the hair Delusions Nevus Macrocephaly Coarse facial features Abnormality of the testis Dystonia Downslanted palpebral fissures Aggressive behavior Elevated hepatic transaminase Proptosis Diarrhea Edema Frontal bossing Abnormality of the skeletal system Pectus excavatum Dysphagia Cutis laxa Absent speech Cryptorchidism Abnormality of the nervous system Motor delay Respiratory tract infection Recurrent respiratory infections Alopecia Apraxia Abnormal heart morphology Generalized hypotonia Ventricular septal defect Myopia Depressed nasal bridge Delayed speech and language development Feeding difficulties Low-set ears Ptosis Inflammation of the large intestine Abnormal facial shape Retrognathia Hamartomatous stomach polyps Ventriculomegaly Irregular ossification of hand bones Cardiac fibroma Microphthalmia Disproportionate tall stature EEG abnormality Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Talipes equinovarus Short neck Anteverted nares Intellectual disability, mild Arrhythmia Hernia Abnormality of cardiovascular system morphology Visual loss Cerebral atrophy Hypogonadotrophic hypogonadism Hemivertebrae Renal insufficiency Long philtrum Short nose Glaucoma Spina bifida occulta Brachycephaly Polydactyly Short ribs Glomerulonephritis Nephritis Melanocytic nevus Inguinal hernia Mandibular prognathia Myopathy Curved fingers Pes cavus Cardiomyopathy Atrial septal defect Telecanthus Histiocytoma Hemiparesis Broad face Abnormality of the neck Brachydactyly Short 4th metacarpal Skin tags Milia Hypotension Syndactyly Abnormality of the ribs Defective B cell differentiation Long fingers Down-sloping shoulders Exotropia Brain neoplasm Agenesis of permanent teeth Bradycardia Narrow nose Sprengel anomaly Thoracic scoliosis Posteriorly rotated ears Abnormality of the sternum Cataract Cleft palate Colitis Vertebral fusion Spina bifida Ulcerative colitis Astrocytoma Immunoglobulin IgG2 deficiency Oral cleft Calcification of falx cerebri Orbital cyst Cleft lip Facial palsy Wide nasal bridge Palmar pits Coloboma Short distal phalanx of the thumb Arachnodactyly Severe hydrocephalus Muscle stiffness Cleft upper lip Iris coloboma Medulloblastoma Interosseus muscle atrophy Multiple impacted teeth Postaxial polydactyly Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Decreased/absent ankle reflexes Thick vermilion border Hypogonadism Hyperextensibility of the finger joints Abnormal mitral valve morphology Broad philtrum Fasting hypoglycemia Hypoplasia of teeth Concave nail Pneumothorax Rhabdomyosarcoma Deep palmar crease Broad femoral neck Schwannoma Abnormality of earlobe Limited elbow movement Fetal distress Bronchomalacia Papilloma Asymmetric septal hypertrophy Labial hypoplasia Thin nail Barrel-shaped chest Soft skin Obstructive sleep apnea Severe postnatal growth retardation Microscopic hematuria Thickened nuchal skin fold Megalencephaly Progeroid facial appearance Redundant neck skin Woolly hair Large earlobe Thick upper lip vermilion Achilles tendon contracture Large forehead Central apnea Lack of skin elasticity Large face Deep plantar creases Arnold-Chiari type I malformation Enlarged cerebellum Neonatal sepsis Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Macrocephaly at birth Myofiber disarray Embryonal rhabdomyosarcoma Vitreomacular adhesion Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Multifocal atrial tachycardia Deep-set nails Hematemesis Ulnar deviation of the wrist Melena Triangular mouth Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Duodenal ulcer Body odor Vestibular Schwannoma Postprandial hyperglycemia Shyness Hypopnea Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Ganglioneuroblastoma Frontal hirsutism Neonatal hypoglycemia Syringomyelia Cerebral cortical atrophy Tetraplegia Wide nose Non-Hodgkin lymphoma High, narrow palate Sleep disturbance Postural instability Ascites Macroglossia Astigmatism Full cheeks Premature birth Webbed neck Growth hormone deficiency Abnormality of the skin Hip dysplasia Overgrowth Joint hypermobility Joint hyperflexibility Mitral valve prolapse Intellectual disability, moderate Respiratory failure Polyhydramnios Gastroesophageal reflux Osteopenia Hypoglycemia Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Pulmonic stenosis Apnea Feeding difficulties in infancy Postnatal growth retardation Wide mouth Pectus carinatum Arthrogryposis multiplex congenita Hypermetropia Eczema Atrial fibrillation Central hypotonia Rocker bottom foot Pleural effusion Heart murmur Hyperglycemia Bilateral cryptorchidism Hypoplastic toenails Tricuspid regurgitation Large for gestational age Failure to thrive in infancy Neurodevelopmental delay Reduced subcutaneous adipose tissue Keratoconus Rhabdomyolysis Ulnar deviation of finger Generalized hyperpigmentation Tracheomalacia Aortic aneurysm Redundant skin Hypoplasia of dental enamel Abnormality of dental enamel Decreased body weight Long eyelashes Wide anterior fontanel Lymphedema Hydrops fetalis Pointed chin Narrow palate Short chin Pyloric stenosis Acanthosis nigricans Abnormal dermatoglyphics Infantile muscular hypotonia Arnold-Chiari malformation Laryngomalacia Poor suck Hyperextensible skin Progressive spinal muscular atrophy Sinusitis Mucosal telangiectasiae Agranulocytosis Sclerosing cholangitis Cholangiocarcinoma Decreased T cell activation Impaired Ig class switch recombination Absence of lymph node germinal center Enlarged tonsils Opportunistic infection Dysgammaglobulinemia Impaired memory B cell generation Congestive heart failure Conductive hearing impairment Pallor Retinopathy Congenital cataract Increased IgM level IgM deficiency Chest pain Chronic diarrhea Neurodegeneration Neutropenia Otitis media Recurrent otitis media Clumsiness Involuntary movements Recurrent bacterial infections Stomatitis Leukoencephalopathy Encephalitis IgG deficiency Gingivitis Agammaglobulinemia Cholangitis Nausea Palpitations Autoimmunity Elevated urinary dopamine Hypertension associated with pheochromocytoma Hypertensive retinopathy Panic attack Episodic hyperhidrosis Extraadrenal pheochromocytoma Elevated urinary epinephrine Paraganglioma of head and neck Episodic paroxysmal anxiety Positive regitine blocking test Paroxysmal vertigo Elevated urinary norepinephrine Episodic hypertension Erythema Corneal opacity Adrenal pheochromocytoma Pulsatile tinnitus Dysphonia Raynaud phenomenon Hypercalcemia Glomerulosclerosis Cerebral hemorrhage Aniridia Episodic abdominal pain Vocal cord paralysis Flushing Renal artery stenosis Pheochromocytoma Paraganglioma Sinus tachycardia Cranial nerve compression Albuminuria Recurrent paroxysmal headache Hemolytic anemia Thrombocytopenia Nail dystrophy Vomiting Hypoplasia of the cochlea Compensated hypothyroidism Unilateral deafness Euthyroid goiter Enlarged vestibular aqueduct Thyroid nodule Obesity Abnormality of the inner ear Hyperactivity Lethargy Confusion Hepatic steatosis Coma Psychosis Cochlear malformation Metabolic alkalosis Cholestasis Progressive hearing impairment Dilatation Abnormality of metabolism/homeostasis Hypothyroidism Vertigo Nephropathy Bilateral sensorineural hearing impairment Goiter Thyroid carcinoma Congenital sensorineural hearing impairment Vestibular dysfunction Abnormality of the thyroid gland Hyperparathyroidism Tracheal stenosis Alkalosis Hypertriglyceridemia Decreased liver function Splenomegaly Microglossia Oligodontia Oral-pharyngeal dysphagia Acne Fragile skin Alopecia of scalp Pustule Nasal polyposis Abnormal blistering of the skin Paranoia Patchy alopecia Hoarse cry Tongue nodules Bilateral intracranial calcifications Fever Subcutaneous nodule Scarring Hepatic fibrosis Intrahepatic cholestasis Pancreatitis Hyperammonemia Hypoalbuminemia Restlessness Drowsiness Insomnia Echolalia Respiratory distress Enuresis Cerebral edema Mania Delirium Delayed menarche Hypoargininemia Pruritus Ichthyosis Aplasia/Hypoplasia of the thymus Abnormal vertebral morphology Type II diabetes mellitus Pancytopenia Intention tremor Telangiectasia Bronchiectasis Limb ataxia Lymphopenia Lymphoma Truncal ataxia Recurrent pneumonia Oculomotor apraxia Reduced tendon reflexes Cerebral palsy Slurred speech Hepatitis Chorea Spinal muscular atrophy Distal muscle weakness Cerebellar atrophy Pneumonia Myoclonus Diabetes mellitus Gait ataxia Difficulty walking Leukemia Progressive cerebellar ataxia Abnormality of eye movement Abnormality of movement Unsteady gait Distal amyotrophy Polyneuropathy Abnormal cerebellum morphology Polycystic ovaries Athetosis Peripheral neuropathy Conjunctival telangiectasia Spinocerebellar tract degeneration Absent Achilles reflex Hypoplasia of the thymus Chronic lymphatic leukemia Cellular immunodeficiency Abnormality of chromosome stability Chronic myelogenous leukemia B-cell lymphoma Neoplasm of the breast Abnormal spermatogenesis Elevated alpha-fetoprotein Decreased proportion of CD4-positive T cells Female hypogonadism Increased sensitivity to ionizing radiation Lymphoproliferative disorder Renal neoplasm Glucose intolerance Abnormality of the immune system Combined immunodeficiency Premature graying of hair Resting tremor Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Telangiectasia of the skin Myeloid leukemia Recurrent bronchitis Prematurely aged appearance Hodgkin lymphoma Hypopigmentation of hair Acute lymphoblastic leukemia Severe combined immunodeficiency Chromosome breakage Skeletal muscle atrophy Muscle weakness Hypodontia Palmoplantar hyperhidrosis Amniotic constriction ring Trichorrhexis nodosa Abnormality of the tongue Alopecia universalis Abnormal cornea morphology Plantar hyperkeratosis Hidrotic ectodermal dysplasia Generalized osteoporosis Autoamputation Foot pain Ainhum Agenesis of premolar Circumungual hyperkeratosis Skin fissure Subungual hyperkeratosis Hypergranulosis Visual impairment Melanoma Ectodermal dysplasia Nail dysplasia Inflammatory abnormality of the skin Skin ulcer Opacification of the corneal stroma Osteolysis Mutism Pili torti Anhidrosis Squamous cell carcinoma Parakeratosis Neoplasm of the lung Ankylosis Oral leukoplakia Anal fissure Hypertonia Urinary tract neoplasm Glioblastoma multiforme Intestinal polyposis Prostate cancer Dysgraphia Amaurosis fugax Leiomyosarcoma Pancreatic adenocarcinoma Agnosia Neoplasm of the pancreas Neoplasm of the thyroid gland Benign neoplasm of the central nervous system Neoplasm of the skeletal system Abnormality of creatine metabolism Neoplasm of the rectum Cardiac diverticulum Pituitary adenoma Ovarian neoplasm Behavioral abnormality Nausea and vomiting Depressivity Constipation Developmental regression Abnormal pyramidal sign Attention deficit hyperactivity disorder Malabsorption Paresthesia Colon cancer Dyskinesia Migraine Gastrointestinal hemorrhage Increased intracranial pressure Hemiplegia/hemiparesis Visual field defect Increased corneal curvature



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Focal seizures, related diseases and genetic alterations Macrocephaly and Lymphedema, related diseases and genetic alterations High palate and Delayed puberty, related diseases and genetic alterations Flexion contracture and Clinodactyly, related diseases and genetic alterations Cardiomyopathy and Lymphedema, related diseases and genetic alterations Muscle weakness and Primary amenorrhea, related diseases and genetic alterations

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