Dysarthria, and Renal cell carcinoma

Diseases related with Dysarthria and Renal cell carcinoma

In the following list you will find some of the most common rare diseases related to Dysarthria and Renal cell carcinoma that can help you solving undiagnosed cases.

Top matches:

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

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

Other less relevant matches:

Low 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

Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Related symptoms:

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

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

Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.

MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME Is also known as melanoma and renal cell carcinoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Melanoma
  • Renal cell carcinoma
  • Cutaneous melanoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

Top 5 symptoms//phenotypes associated to Dysarthria and Renal cell carcinoma

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Renal cell carcinoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hydrocephalus Strabismus Short stature Carcinoma Increased intracranial pressure Nystagmus Cafe-au-lait spot Weight loss Attention deficit hyperactivity disorder Neurological speech impairment Anxiety Flexion contracture Failure to thrive Overgrowth Delayed puberty Generalized hypotonia Congestive heart failure Ventriculomegaly Motor delay Multiple cafe-au-lait spots Muscular hypotonia Breast carcinoma Gait disturbance Hemiplegia/hemiparesis Dilatation Scoliosis Hypertelorism Abnormal facial shape Global developmental delay Visual impairment Hypertension Respiratory insufficiency Cardiomyopathy Behavioral abnormality Arrhythmia Rhabdomyosarcoma Depressivity

Rare Symptoms - Less than 30% cases

Apraxia High palate Severe short stature Fatigue Edema Irritability Frontal bossing Hepatomegaly Abnormal pyramidal sign Depressed nasal bridge Feeding difficulties Renal insufficiency Coarse facial features Diabetes mellitus Pneumothorax Nausea and vomiting Growth delay Migraine Optic nerve glioma Vestibular Schwannoma Embryonal rhabdomyosarcoma Leiomyosarcoma Chronic myelogenous leukemia Schwannoma Hypogonadism Abnormality of the pancreas Abnormality of the hair Hepatocellular carcinoma Abnormality of the liver Retinal capillary hemangioma Hematuria Paraganglioma Tremor Telangiectasia of the skin Spasticity Hyperhidrosis Ataxia Reduced tendon reflexes Acanthosis nigricans Abnormality of the nervous system Pointed chin Epidermal acanthosis Type II diabetes mellitus Growth hormone deficiency Decreased antibody level in blood Abnormality of the testis Neuroblastoma Ascites Astigmatism Multiple renal cysts Intellectual disability, moderate Nevus Neoplasm of the pancreas Osteoporosis Precocious puberty Malabsorption Anemia Hypertrophic cardiomyopathy Specific learning disability Paresthesia Abnormality of cardiovascular system morphology Pulmonary fibrosis Ptosis Lymphoma Myocardial fibrosis Gastrointestinal hemorrhage Visual loss Abnormal heart morphology Leukemia Hypoglycemia Glaucoma Mitral valve prolapse Autism Kyphoscoliosis Pulmonic stenosis Osteopenia Peripheral neuropathy Astrocytoma Aqueductal stenosis Abnormality of the skeletal system Intellectual disability, mild Pheochromocytoma Delayed speech and language development Long eyelashes Hyperpigmentation of the skin Wide anterior fontanel Rocker bottom foot Lymphedema Hydrops fetalis Hoarse voice Narrow palate Abnormality of dental enamel Short chin Decreased body weight Atrial fibrillation Hypoplasia of dental enamel Thick lower lip vermilion Eczema Hip dysplasia Syringomyelia Abnormality of the skin Webbed neck Arnold-Chiari type I malformation Premature birth Neonatal hypoglycemia Soft skin Central hypotonia Tracheomalacia Large for gestational age Redundant skin Tricuspid regurgitation Hypoplastic toenails Neurodevelopmental delay Bilateral cryptorchidism Reduced subcutaneous adipose tissue Hyperglycemia Heart murmur Pleural effusion Aortic aneurysm Failure to thrive in infancy Keratoconus Pyloric stenosis Generalized hyperpigmentation Hyperextensible skin Curly hair Poor suck Relative macrocephaly Arnold-Chiari malformation Rhabdomyolysis Ulnar deviation of finger Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Cutis laxa Abnormality of the fingernails Laryngomalacia Anomalous pulmonary venous return Full cheeks Myopia Absent speech Cerebral atrophy Long philtrum Short nose Abnormality of the dentition Myopathy Atrial septal defect Short neck Anteverted nares Talipes equinovarus Ventricular septal defect Dysphagia Downslanted palpebral fissures Epicanthus Pectus excavatum Low-set ears Cryptorchidism Micrognathia Neoplasm of the middle ear Vascular neoplasm Papillary cystadenoma of the epididymis Neuroendocrine neoplasm Abnormality of the lymphatic system Visceral angiomatosis Pancreatic cysts Abnormality of the retinal vasculature Abnormality of the cerebral vasculature Arteriovenous malformation Hernia Inguinal hernia Sepsis Sparse hair Macroglossia Tetraplegia Postural instability Sleep disturbance High, narrow palate Thick vermilion border Wide nose Tachycardia Joint hypermobility Joint hyperflexibility Hypermetropia Arthrogryposis multiplex congenita Pectus carinatum Wide mouth Delayed skeletal maturation Postnatal growth retardation Feeding difficulties in infancy Apnea Low-set, posteriorly rotated ears Joint laxity Gastroesophageal reflux Polyhydramnios Proptosis Hyperkeratosis Respiratory failure Cerebral cortical atrophy Posteriorly rotated ears Pes cavus Obstructive sleep apnea Woolly hair Severe postnatal growth retardation Optic atrophy Abnormality of neuronal migration Atrioventricular block Hypopigmented skin patches Aplasia/Hypoplasia of the corpus callosum Bradycardia Subcutaneous nodule Generalized-onset seizure Cerebral calcification Renal cyst Iris coloboma Papule EEG abnormality Hypothyroidism Cutaneous melanoma Prominent occiput Melanoma Noncommunicating hydrocephalus Corticospinal tract hypoplasia Flexion contracture of thumb Clear cell renal cell carcinoma Absent septum pellucidum Adducted thumb Holoprosencephaly Spastic paraparesis Paraparesis Paraplegia Spastic paraplegia Joint stiffness Agenesis of corpus callosum Emphysema Cortical dysplasia Increased corneal curvature Renal angiomyolipoma Rhabdomyoma Subungual fibromas Achromatic retinal patches Pulmonary lymphangiomyomatosis Confetti-like hypopigmented macules Ungual fibroma Dental enamel pits Hypomelanotic macule Cardiac rhabdomyoma Subependymal nodules Cortical tubers Chordoma Retinal hamartoma Angiofibromas Macrodactyly Macule Shagreen patch Ependymoma Third degree atrioventricular block Adenoma sebaceum Chylothorax Abnormality of the pleura Gingival fibromatosis Wolff-Parkinson-White syndrome Abnormality of the respiratory system Skin tags Gingivitis Nevus flammeus Hamartoma Infantile spasms Intellectual disability, severe Systolic heart murmur Microscopic hematuria Asymmetric septal hypertrophy Papilloma Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Broad femoral neck Hyperextensibility of the finger joints Pain Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Deep palmar crease Thin nail Labial hypoplasia Redundant neck skin Lack of skin elasticity Central apnea Verrucae Large forehead Achilles tendon contracture Thick upper lip vermilion Large earlobe Progeroid facial appearance Barrel-shaped chest Megalencephaly Fragile nails Thickened nuchal skin fold Large face Deep plantar creases Thickened Achilles tendon Deep-set nails Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Frontal hirsutism Hematemesis Ganglioneuroblastoma Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Melena Capillary hemangioma Paroxysmal vertigo Aplasia/Hypoplasia of the cerebellum High pitched voice Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Microglossia Scaphocephaly Insulin-resistant diabetes mellitus Pericarditis Slender long bone Nephroblastoma Microcephaly Premature ovarian insufficiency Cachexia Tetralogy of Fallot Abnormality of the cardiovascular system Increased body weight Insulin resistance Dental crowding Coarctation of aorta Pigmentary retinopathy Cyanosis Hypsarrhythmia Aganglionic megacolon Bone pain Pericardial constriction Muscle weakness Triangular face Genu valgum Pancytopenia Pruritus Hepatitis Chorea Progressive cerebellar ataxia Abnormal cerebellum morphology Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of movement Abnormality of eye movement Distal muscle weakness Respiratory tract infection Facial asymmetry Recurrent fractures Elevated hepatic transaminase Difficulty walking Gait ataxia Myoclonus Recurrent respiratory infections Pneumonia Recurrent infections Immunodeficiency Dystonia Cerebellar atrophy Peripheral axonal neuropathy Skeletal muscle atrophy Abnormality of skin pigmentation Abdominal distention Sensorimotor neuropathy Choreoathetosis Single ventricle Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Neoplasm of the endocrine system Neurofibrosarcoma Neuroma Brain neoplasm Axillary freckling Renovascular hypertension Renal artery stenosis Pseudoarthrosis Tibial pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Renal phosphate wasting Parathyroid adenoma Glioma Nasolacrimal duct obstruction Carcinoid tumor Complete atrioventricular canal defect Cerebral artery stenosis Brow ptosis Hypodontia Back pain Cirrhosis Spina bifida Infertility Atherosclerosis Dolichocephaly Small for gestational age Broad forehead Retinopathy Venous thrombosis Reduced bone mineral density Hepatosplenomegaly Incoordination Sarcoma Clitoral hypertrophy Meningioma Hypoplasia of the corpus callosum Sensory axonal neuropathy Hypophosphatemia Intrauterine growth retardation Wide nasal bridge Neurofibromas Tibial bowing Freckling Osteomalacia Severe vision loss Overweight Increased reactive oxygen species production Gangrene Intention tremor Telangiectasia Polycystic kidney dysplasia Abnormality of creatine metabolism Cerebral hemorrhage Glomerulosclerosis Hypercalcemia Dysphonia Palpitations Chest pain Nausea Pallor Proteinuria Conductive hearing impairment Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Neoplasm of the skeletal system Episodic abdominal pain Benign neoplasm of the central nervous system Neoplasm of the thyroid gland Agnosia Glioblastoma multiforme Pancreatic adenocarcinoma Amaurosis fugax Dysgraphia Prostate cancer Intestinal polyposis Pituitary adenoma Ovarian neoplasm Colon cancer Visual field defect Aniridia Vocal cord paralysis Hyperactivity Paraganglioma of head and neck Multicystic kidney dysplasia Sensory neuropathy Retinal detachment Abnormality of the kidney Blindness Cataract Sensorineural hearing impairment Hearing impairment Arachnoid hemangiomatosis Night sweats Positive regitine blocking test Elevated urinary norepinephrine Elevated urinary dopamine Elevated urinary epinephrine Flushing Headache Extraadrenal pheochromocytoma Episodic hyperhidrosis Hypertension associated with pheochromocytoma Panic attack Hypertensive retinopathy Episodic paroxysmal anxiety Pulsatile tinnitus Adrenal pheochromocytoma Elevated calcitonin Recurrent paroxysmal headache Cranial nerve compression Sinus tachycardia Basal cell carcinoma Hallucinations Bronchiectasis Premature graying of hair Recurrent lower respiratory tract infections Severe combined immunodeficiency Acute lymphoblastic leukemia Autistic behavior Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Prematurely aged appearance Myeloid leukemia Abnormality of the immune system Paralysis Aplasia/Hypoplasia of the skin Resting tremor Combined immunodeficiency Recurrent bronchitis Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Cerebral palsy Oculomotor apraxia Recurrent pneumonia Truncal ataxia Lymphopenia Abnormal vertebral morphology Sinusitis Limb ataxia Chromosome breakage Renal neoplasm Memory impairment Aplasia/Hypoplasia of the thymus Dyskinesia Developmental regression Abdominal pain Constipation Hypertonia Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Increased sensitivity to ionizing radiation B-cell lymphoma Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Conjunctival telangiectasia Abnormality of chromosome stability Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Subependymal giant-cell astrocytoma


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