Cognitive impairment, and Epistaxis

Diseases related with Cognitive impairment and Epistaxis

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


Top matches:

Medium match PRUNE BELLY SYNDROME


Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism|abdominal muscle deficiency syndrome|eagle-barret syndrome|eagle-barrett syndrome|triad syndrome|egbrs|obrinsky syndrome

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRUNE BELLY SYNDROME

Medium match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Medium match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

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Other less relevant matches:

Medium match GAUCHER DISEASE, TYPE I


Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Medium match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Medium match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Medium match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Medium match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Low match GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Low match DENGUE FEVER


Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).

DENGUE FEVER Is also known as df|dengue virus infection

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Diarrhea
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about DENGUE FEVER

Top 5 symptoms//phenotypes associated to Cognitive impairment and Epistaxis

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Recurrent respiratory infections Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Epistaxis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Ascites

Common Symptoms - More than 50% cases


Hepatosplenomegaly

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Abnormal bleeding

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea Leukopenia Pancytopenia Fatigue Lymphadenopathy Global developmental delay Edema Bruising susceptibility Bone pain Dementia Generalized myoclonic seizures Hydrops fetalis Pulmonary arterial hypertension Dyspnea Congestive heart failure Delayed skeletal maturation Fever Interstitial pulmonary abnormality Gait disturbance Generalized hypotonia Hepatocellular carcinoma Portal hypertension Hematuria Delayed puberty Proteinuria Osteopenia Osteoporosis Growth delay Short stature Gingival bleeding Scoliosis Osteolysis Abnormality of the spleen Cyanosis Abdominal pain Abnormality of the thorax Erlenmeyer flask deformity of the femurs Cholelithiasis Multiple myeloma Petechiae Avascular necrosis of the capital femoral epiphysis Decreased body weight Exertional dyspnea Respiratory distress Dysphagia Progressive neurologic deterioration Spasticity Oculomotor apraxia Spontaneous hematomas Menorrhagia Protuberant abdomen Generalized osteosclerosis Cirrhosis Hypertension Clubbing Syncope Pericardial effusion Abnormality of eye movement Mental deterioration Increased susceptibility to fractures Aseptic necrosis Increased bone mineral density Vertebral compression fractures Hyperpigmentation of the skin Abnormal myocardium morphology Hypersplenism Rigidity Ophthalmoplegia Abnormality of the eye Increased antibody level in blood Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Motor delay Kyphosis Arrhythmia Myoclonus Orthopnea Encephalopathy Corneal opacity Supranuclear gaze palsy Abdominal distention Pallor Leukemia Renal insufficiency Gastrointestinal hemorrhage Atrial septal defect Lymphoma Recurrent infections Neoplasm Anorexia

Rare Symptoms - Less than 30% cases


Vomiting Pathologic fracture Abnormality of the skin Falls Shock Decreased muscle mass Depressivity Neurodegeneration Malabsorption Dystonia Myopia Feeding difficulties in infancy Increased serum ferritin Parkinsonism Polyhydramnios Cerebral hemorrhage Headache Neurological speech impairment Feeding difficulties Pain Lethargy Poor suck Bilateral ptosis Brain atrophy Gastroesophageal reflux Hemophagocytosis Abnormal facial shape Microcephaly Tremor Horizontal supranuclear gaze palsy Aspiration pneumonia Aspiration Hypertonia Hypertriglyceridemia Restrictive deficit on pulmonary function testing Vasculitis Muscular hypotonia Purpura Intellectual disability Pectus excavatum Bulbar palsy Slow saccadic eye movements Periorbital edema Mitral valve calcification Nystagmus Abnormality of coagulation Hypercoagulability Edema of the lower limbs Cryptorchidism Pulmonary infiltrates Pleural effusion Myopathy Cranial nerve paralysis Peripheral neuropathy Arthritis Developmental regression Pectus carinatum Hepatic failure Aortic valve calcification Difficulty walking Opisthotonus Jaundice Hypoglycemia Elevated hepatic transaminase Thick vermilion border Abnormality of the foot Pulmonic stenosis Abnormality of cardiovascular system morphology Inguinal hernia Posteriorly rotated ears Congenital nonbullous ichthyosiform erythroderma Joint hypermobility Triangular face Prominent forehead Low-set, posteriorly rotated ears Hypoxemia Hypermetropia Broad forehead Abnormality of the larynx Highly arched eyebrow High forehead Astigmatism Macrotia Joint laxity Sparse hair Postnatal growth retardation Sleep myoclonus Long philtrum Abnormality of bone marrow cell morphology Laryngeal stridor CSF pleocytosis Abnormal platelet function Abnormal platelet aggregation Slowed horizontal saccades Arthralgia of the hip Flank pain EEG with temporal sharp waves Arthralgia Intestinal bleeding Fractures of the long bones Esodeviation Skin rash Pruritus Nausea and vomiting Hypotension Cardiorespiratory arrest Flushing Giant cell hepatitis Subcutaneous hemorrhage Cardiomyopathy Delayed speech and language development Short neck Anteverted nares Frontal bossing Downslanted palpebral fissures Optic atrophy Macrocephaly Epicanthus Depressed nasal bridge Low-set ears Abducens palsy Ptosis Hypertelorism Histiocytosis Abnormal pattern of respiration Eclabion Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Axial dystonia Webbed neck Hypokinesia Esotropia Abnormality of the mediastinum Abnormality of the subarachnoid space Reduced factor X activity Irritability Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Arteritis Aggressive behavior Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Short attention span Hydrocele testis Facial hypotonia Hydrocephalus Abnormal pyramidal sign Neurodevelopmental delay Flexion contracture Abnormality of ion homeostasis Abnormal saccadic eye movements Abnormal thrombosis Astrocytosis Protein-losing enteropathy Thoracic kyphosis Abnormal heart valve morphology Abnormality of the sternum Lower limb hyperreflexia Abnormal retinal morphology Generalized tonic-clonic seizures Intrauterine growth retardation Restrictive ventilatory defect Umbilical hernia Pulmonary fibrosis Hypoalbuminemia Apnea Lymphopenia Intention tremor Progressive cerebellar ataxia Abnormal eyebrow morphology Proximal placement of thumb Wide intermamillary distance Mitral regurgitation Athetosis Aortic valve stenosis Abnormality of the acoustic reflex Lymphedema Cafe-au-lait spot Congenital ichthyosiform erythroderma Poor eye contact Atrophy/Degeneration affecting the brainstem Limb hypertonia Akinesia Epileptic spasms Fine hair Fetal akinesia sequence Hypomagnesemia Bulbar signs Low posterior hairline Trismus Nonimmune hydrops fetalis Hip dysplasia Heart murmur Hyponatremia Overfolded helix Torticollis Cubitus valgus Failure to thrive in infancy Deep philtrum Cough Nausea Pulmonary hypoplasia Bicuspid aortic valve Decreased fetal movement Cholestasis Thickened skin Ectropion Progressive microcephaly Cardiac arrest Elbow flexion contracture Hypocalcemia Knee flexion contracture Hyperbilirubinemia Hyperammonemia Intracranial hemorrhage Bilateral single transverse palmar creases B-cell lymphoma Peripheral demyelination Bipolar affective disorder Memory impairment Normocytic anemia Reduced consciousness/confusion Abnormality of the retinal vasculature Lymphoproliferative disorder Raynaud phenomenon Elevated erythrocyte sedimentation rate Cutis marmorata Urticaria Migraine Retinal hemorrhage Polyneuropathy Vertigo Stroke Autoimmunity Proptosis Weight loss Visual loss Respiratory insufficiency Hearing impairment Abnormality of neutrophils Multifocal epileptiform discharges Aplasia of the abdominal wall musculature Nephrolithiasis Glomerulosclerosis Elevated alkaline phosphatase Hypercalciuria Chronic kidney disease Venous thrombosis Atherosclerosis Pancreatitis Hyperlipidemia Nephrocalcinosis Hepatitis Monoclonal immunoglobulin M proteinemia Full cheeks Metabolic acidosis Nephropathy Lactic acidosis Carcinoma Acidosis Polyclonal elevation of IgM Cryoglobulinemia Impaired lymphocyte transformation with phytohemagglutinin Aplasia of the musculature Dilatation of the bladder Prolonged bleeding time Intestinal malrotation Hemivertebrae Congenital hip dislocation Telangiectasia Recurrent urinary tract infections Abnormality of the ribs Oligohydramnios Tetralogy of Fallot Decreased testicular size Vesicoureteral reflux Cutis laxa Anal atresia Hip dislocation Hydronephrosis Constipation Abnormal heart morphology Patent ductus arteriosus Dilatation Talipes equinovarus Ventricular septal defect Multicystic kidney dysplasia Abnormality of the urinary system Congenital posterior urethral valve Intestinal atresia Fetal ascites Urethral obstruction Megacystis Abnormality of the bladder Prune belly Abdominal wall defect Cervical ribs Urethral stenosis Urogenital sinus anomaly Miosis Bilateral cryptorchidism Volvulus Abnormality of the uterus 11 pairs of ribs Aplasia/Hypoplasia of the lungs Xerostomia Abnormality of the ureter Decreased fertility Vertebral segmentation defect Hydroureter Focal segmental glomerulosclerosis Hyperuricemia Osteomyelitis Sensory axonal neuropathy Generalized hypopigmentation Fair hair Periodontitis Gingivitis Iris hypopigmentation Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Albinism Spinocerebellar tract degeneration Melanocytic nevus Decreased nerve conduction velocity Abnormality of vision Foot dorsiflexor weakness Skin ulcer Amblyopia Cutaneous photosensitivity Abnormality of extrapyramidal motor function Bradykinesia White hair Progressive peripheral neuropathy Neutropenia EEG abnormality Leukocytosis Reduced bone mineral density Spastic paraparesis Meningitis Hepatic fibrosis Osteoarthritis Apraxia Abnormality of the cardiovascular system Abnormality of skin pigmentation Generalized hypopigmentation of hair Partial albinism Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Hypopigmentation of the skin Sensory neuropathy Renal tubular acidosis Microalbuminuria Lipemia retinalis Distal renal tubular acidosis Chronic pancreatitis Chronic hepatitis Hepatoblastoma Decreased glomerular filtration rate Intermittent diarrhea Xanthelasma Hypoglycemic seizures Hepatocellular adenoma Pyelonephritis Enterocolitis Skeletal myopathy Fasting hypoglycemia Breathing dysregulation Neoplasm of the liver Xanthomatosis Gout Enlarged kidney Doll-like facies Hypocitraturia Peripheral axonal neuropathy Cerebellar atrophy Paresthesia Paraplegia Abnormality of movement Spastic paraplegia Photophobia Reduced visual acuity Hyporeflexia Areflexia Immunodeficiency Skeletal muscle atrophy Abnormality of the skeletal system Visual impairment Vertical supranuclear gaze palsy Chronic fatigue Macular atrophy Oral-pharyngeal dysphagia Stridor Hyperkinesis Abnormal lung morphology Pneumonia Hypoproteinemia



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