Cognitive impairment, and Renal cell carcinoma

Diseases related with Cognitive impairment and Renal cell carcinoma

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


Top matches:

Low match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


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

Low match TUBEROUS SCLEROSIS COMPLEX


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

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


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

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Other less relevant matches:

Low 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 HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match HYPERPROLINEMIA TYPE 1


Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).

HYPERPROLINEMIA TYPE 1 Is also known as hpi|proline oxidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPROLINEMIA TYPE 1

Low match LYMPHANGIOLEIOMYOMATOSIS


Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam|lymphangiomyomatosis

Related symptoms:

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LYMPHANGIOLEIOMYOMATOSIS

Low match HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA


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

Low match VON HIPPEL-LINDAU DISEASE


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

Low match MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME


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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Renal cell carcinoma

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

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

Uncommon Symptoms - Between 30% and 50% cases


Pain Dilatation Increased intracranial pressure Global developmental delay Macrocephaly Multiple renal cysts Cafe-au-lait spot Autism Behavioral abnormality Congestive heart failure Macule Hypertension Generalized hypotonia Delayed speech and language development Cataract Multiple cafe-au-lait spots Scoliosis Chest pain Short stature Melanoma Carcinoma Astrocytoma

Rare Symptoms - Less than 30% cases


Renal angiomyolipoma Ungual fibroma Hypertrophic cardiomyopathy Osteopenia Weight loss Glaucoma Hyperactivity Osteoporosis Visual loss Intellectual disability, mild Retinal hamartoma Headache Abnormal facial shape Cardiomyopathy Abnormality of the skeletal system Abnormality of the lymphatic system Pulmonary lymphangiomyomatosis Visual impairment Hypertelorism Leukemia Hematuria Incoordination Fatigue Failure to thrive Sensorineural hearing impairment Dyspnea Conductive hearing impairment Arteriovenous malformation Myocardial infarction Intracranial hemorrhage Nausea and vomiting Abnormality of the kidney Narrow mouth Kyphosis Tremor Skeletal muscle atrophy Micrognathia Ataxia Abnormality of skin pigmentation Sinus tachycardia Neoplasm of the central nervous system Carcinoid tumor Paraganglioma Pheochromocytoma Meningioma Proteinuria Shagreen patch Atherosclerosis Nephroblastoma Abnormality of the cardiovascular system Overgrowth Gastrointestinal hemorrhage Lymphoma Optic nerve glioma Breast carcinoma Emphysema Attention deficit hyperactivity disorder Flexion contracture Optic atrophy Precocious puberty Subcutaneous nodule Hypothyroidism Motor delay Respiratory insufficiency Specific learning disability Hamartoma Skin tags Retinal capillary hemangioma Abnormality of the pancreas Papule Hypopigmented skin patches Nystagmus Pneumothorax Adenoma sebaceum EEG abnormality Chylothorax Hemiplegia/hemiparesis Joint stiffness Rhabdomyosarcoma Arrhythmia Aqueductal stenosis Hyperlipidemia High pitched voice Hypogonadotrophic hypogonadism Multiple joint contractures Heart murmur Metaphyseal widening Abnormality of the thorax Osteolysis Premature ovarian insufficiency Hyperinsulinemia Lipodystrophy Nasal speech Dermal atrophy Coxa valga Hypercholesterolemia Aminoaciduria Acanthosis nigricans Relative macrocephaly Vocal cord paralysis Premature graying of hair Thrombocytosis Ovoid vertebral bodies Hyperphosphatemia Sensory neuropathy Migraine Down-sloping shoulders Multicystic kidney dysplasia Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Polycystic kidney dysplasia Aplasia/Hypoplasia of the cerebellum Abnormality of the retinal vasculature Alopecia of scalp Short clavicles Hypoplastic nipples Keratoconjunctivitis sicca Telangiectasia of the skin Thin ribs Scleroderma Lipoatrophy Capillary hemangioma Exertional dyspnea Prolonged QT interval Abnormality of the cerebral vasculature Hypergonadotropic hypogonadism Left ventricular hypertrophy Increased bone mineral density Proptosis Carious teeth Hypotrichosis Hypermetropia Dilated cardiomyopathy Hip dislocation Microtia Stroke Sparse hair Vascular neoplasm Macrotia Neoplasm of the middle ear Hypogonadism Delayed puberty Prominent forehead Dementia Alopecia Midface retrusion Malar flattening Short nose Abnormality of the dentition Growth delay Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Narrow chest Infertility Pancreatic cysts Osteoarthritis Aspiration Aortic valve stenosis Sparse and thin eyebrow Insulin resistance Hypohidrosis Dental crowding Prominent superficial veins Visceral angiomatosis Decreased body weight Broad-based gait Thin skin Hypertriglyceridemia Thin vermilion border Neuroendocrine neoplasm Cardiomegaly Cyanosis Convex nasal ridge Nail dysplasia Growth hormone deficiency Limitation of joint mobility Papillary cystadenoma of the epididymis Hypodontia Delayed eruption of teeth Hepatic steatosis Osteolytic defects of the phalanges of the hand Narrow nasal ridge Angina pectoris Cough Hemoptysis Restrictive ventilatory defect Lymphedema Extraadrenal pheochromocytoma Elevated urinary epinephrine Abnormal lung morphology Ascites Paraganglioma of head and neck Elevated urinary dopamine Lymphadenopathy Respiratory failure Pulmonary infiltrates Abdominal pain Recurrent respiratory infections Respiratory distress Elevated urinary norepinephrine Fever Positive regitine blocking test Hyperprolinemia Paroxysmal vertigo Prolinuria Arachnoid hemangiomatosis Hydroxyprolinuria Episodic hyperhidrosis Hypertension associated with pheochromocytoma Motor deterioration Cystic lung disease Aniridia Flushing Cerebral hemorrhage Glomerulosclerosis Hypercalcemia Dysphonia Palpitations Nausea Pallor Chylopericardium Cranial nerve compression Bronchiolitis obliterans Panic attack Abnormal urinary color Recurrent paroxysmal headache Elevated calcitonin Adrenal pheochromocytoma Pulsatile tinnitus Bronchiolitis Abnormality of female internal genitalia Episodic paroxysmal anxiety Hypertensive retinopathy Atelectasis Renal neoplasm Hyperglycinuria Bruxism Lack of skin elasticity Absence of subcutaneous fat Mitral valve calcification Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Neurological speech impairment Corneal arcus Retinal detachment Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Hip pain Prominent scalp veins Aplastic clavicle Episodic abdominal pain Arteriosclerosis Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Enlarged joints Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Small face Generalized osteoporosis Bird-like facies Hyperhidrosis Nephritis Muscular hypotonia Schizophrenia Severe muscular hypotonia Stereotypy Conjunctival hamartoma Hemiparesis Status epilepticus Sleep disturbance Nephropathy Ichthyosis Aggressive behavior Gait disturbance Tapering pointed ends of distal finger phalanges Hypoplastic facial bones Arteriosclerosis of small cerebral arteries Regional abnormality of skin Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Absence of pubertal development Carotid artery stenosis Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Ductal carcinoma in situ Acute myeloid leukemia Dysplastic gangliocytoma of the cerebellum Genu valgum Sensorimotor neuropathy Bone pain Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Tetralogy of Fallot Recurrent fractures Peripheral axonal neuropathy Paresthesia Facial asymmetry Malabsorption Venous thrombosis Pulmonic stenosis Pruritus Paralysis Autistic behavior Hypoglycemia Kyphoscoliosis Abnormal heart morphology Depressivity Abnormality of cardiovascular system morphology Blindness Dysarthria Spina bifida Reduced bone mineral density Anemia Neoplasm of the endocrine system Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Parathyroid adenoma Brain neoplasm Myocardial fibrosis Gangrene Sarcoma Increased reactive oxygen species production Overweight Severe vision loss Osteomalacia Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Back pain Peripheral neuropathy Ptosis Gastrointestinal stroma tumor Adducted thumb Cerebral calcification Renal cyst Iris coloboma Abnormality of the liver Anxiety Renal insufficiency Noncommunicating hydrocephalus Corticospinal tract hypoplasia Flexion contracture of thumb Clear cell renal cell carcinoma Absent septum pellucidum Holoprosencephaly Bradycardia Spastic paraparesis Paraparesis Paraplegia Spastic paraplegia Abnormal pyramidal sign Coarse facial features Agenesis of corpus callosum Intellectual disability, severe Ventriculomegaly Spasticity Strabismus Generalized-onset seizure Aplasia/Hypoplasia of the corpus callosum Subependymal giant-cell astrocytoma Macrodactyly Rhabdomyoma Subungual fibromas Achromatic retinal patches Confetti-like hypopigmented macules Dental enamel pits Hypomelanotic macule Cardiac rhabdomyoma Subependymal nodules Cortical tubers Chordoma Angiofibromas Ependymoma Atrioventricular block Third degree atrioventricular block Abnormality of the pleura Gingival fibromatosis Wolff-Parkinson-White syndrome Abnormality of the respiratory system Gingivitis Neoplasm of the pancreas Nevus flammeus Infantile spasms Cortical dysplasia Prominent occiput Abnormality of neuronal migration Lisch nodules Fibular bowing Trichilemmoma Scaphocephaly Bone cyst Intestinal polyposis Ovarian cyst Abnormality of the uterus Furrowed tongue Hydrocele testis Megalencephaly Prolactin excess Papilledema Abnormality of the vasculature Lipoma Hashimoto thyroiditis Long penis Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Cutis marmorata Melanocytic nevus Hand polydactyly Cellular immunodeficiency Cavernous hemangioma Palmoplantar hyperkeratosis Follicular thyroid carcinoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Varicocele Enlarged polycystic ovaries Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Decreased proportion of CD4-positive T cells Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Dysdiadochokinesis Goiter Leiomyosarcoma Subcutaneous neurofibromas High palate Low-set ears Muscle weakness Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Neurofibrosarcoma Myopia Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Brachydactyly Downslanted palpebral fissures Hemangioma Macroglossia Drooling Cranial nerve paralysis Neoplasm of the skin Lymphopenia Gynecomastia Exotropia Chronic diarrhea Telangiectasia Broad thumb Intention tremor Decreased antibody level in blood Abnormal cerebellum morphology Frontal bossing Hypoplasia of the maxilla Palmoplantar keratoderma Polymicrogyria Joint hypermobility Intellectual disability, moderate Proximal muscle weakness Pectus excavatum Recurrent infections Immunodeficiency Diarrhea Myopathy Atrial septal defect Cutaneous melanoma



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