Ataxia, and Bruising susceptibility

Diseases related with Ataxia and Bruising susceptibility

In the following list you will find some of the most common rare diseases related to Ataxia and Bruising susceptibility that can help you solving undiagnosed cases.


Top matches:

Medium match HERMANSKY-PUDLAK SYNDROME TYPE 7


HERMANSKY-PUDLAK SYNDROME TYPE 7 Is also known as hps7

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Respiratory distress
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 7

Medium match NIEMANN-PICK DISEASE, TYPE C1; NPC1


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

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

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Other less relevant matches:

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 ATTENUATED CHÉDIAK-HIGASHI SYNDROME


Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

ATTENUATED CHÉDIAK-HIGASHI SYNDROME Is also known as atypical chÉdiak-higashi syndrome

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Hypertonia
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: ORPHANET MENDELIAN

More info about ATTENUATED CHÉDIAK-HIGASHI SYNDROME

Medium 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

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Top 5 symptoms//phenotypes associated to Ataxia and Bruising susceptibility

Symptoms // Phenotype % cases
Thrombocytopenia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Bruising susceptibility. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Epistaxis Hepatosplenomegaly Global developmental delay Abnormality of the eye Failure to thrive Growth delay Edema Recurrent respiratory infections Neurological speech impairment Fatigue Dysphagia Tremor Spasticity Nystagmus Leukopenia Dementia Generalized hypotonia Abnormal bleeding Pancytopenia Neoplasm Ascites Abnormality of skin pigmentation Hypopigmentation of the skin Abnormality of the cerebral white matter Abnormality of movement Cirrhosis Depressivity Congestive heart failure Hypertelorism Mental deterioration Respiratory distress Scoliosis Short stature Leukemia Peripheral axonal neuropathy Progressive neurologic deterioration Gingival bleeding Abnormality of vision Atrial septal defect Astigmatism Delayed skeletal maturation Proteinuria Peripheral neuropathy Hyperpigmentation of the skin Hyperreflexia Dysarthria Pathologic fracture Bone pain Gait disturbance Interstitial pulmonary abnormality Behavioral abnormality Hypersplenism Abnormal myocardium morphology Osteoporosis Jaundice Hepatocellular carcinoma

Rare Symptoms - Less than 30% cases


Rigidity Parkinsonism Visual impairment Hepatic steatosis Abnormality of extrapyramidal motor function Vertebral compression fractures Cafe-au-lait spot Joint hypermobility Pericardial effusion Lymphoma Erlenmeyer flask deformity of the femurs Neutropenia Falls Lymphadenopathy Paresthesia Pruritus Multiple myeloma Fever Immunodeficiency Difficulty walking Skin ulcer Kyphosis Cranial nerve paralysis High palate Decreased body weight Hydrocephalus Oculomotor apraxia Reduced bone mineral density Ventriculomegaly Frontal bossing Epicanthus Ptosis Abnormality of cardiovascular system morphology Cryptorchidism Abnormality of coagulation Cataract Micrognathia Hearing impairment Carcinoma Low-set ears Puberty and gonadal disorders Osteoarthritis Abnormality of the cardiovascular system Melanocytic nevus Umbilical hernia Generalized hyperpigmentation Generalized hypopigmentation Dolichocephaly Abnormal cardiac septum morphology Abnormality of the liver Irritability Abnormality of the kidney Hypertrophic cardiomyopathy Proptosis Abdominal distention Weight loss Myopia Oral-pharyngeal dysphagia Osteopenia EEG abnormality Arthritis Clinodactyly of the 5th finger Abnormal heart morphology Increased antibody level in blood Aseptic necrosis Hypertonia Ocular albinism Abnormality of the nervous system Increased susceptibility to fractures Multiple cafe-au-lait spots Neurodegeneration Albinism Abnormality of blood and blood-forming tissues Menorrhagia Cerebral atrophy Ophthalmoplegia Oligohydramnios Sleep disturbance Muscular hypotonia Abnormality of the ulna Cognitive impairment Intrauterine growth retardation Vertical supranuclear gaze palsy Dystonia Pneumonia Abnormality of the testis Myoclonus Supranuclear gaze palsy Feeding difficulties Developmental regression Schizophrenia Abnormal aortic valve morphology Aggressive behavior Vomiting Reduced visual acuity Abnormal lung morphology Osteolysis Psychosis Increased bone mineral density Aspiration Hydroureter Pulmonary arterial hypertension Clumsiness Optic nerve hypoplasia Abnormality of the skeletal system Encephalopathy Hematuria Delayed puberty Generalized myoclonic seizures Dyspnea Thickened skin Open mouth Myocardial infarction Anteverted nares Cardiomyopathy Macrocephaly Optic atrophy Hemiparesis Short neck Downslanted palpebral fissures Ventricular septal defect Inflammatory abnormality of the skin Pyridoxine-responsive sideroblastic anemia Depressed nasal bridge Aplasia/Hypoplasia of the corpus callosum Deficient excision of UV-induced pyrimidine dimers in DNA Deep philtrum Hyperextensible skin Poor suck Relative macrocephaly Palmoplantar hyperkeratosis Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Abnormal palate morphology Lymphedema Neoplasm of head and neck Cutis laxa Sparse eyelashes Narrow palate Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Abnormality of the preputium Delayed speech and language development Abnormality of the nail Cerebral visual impairment Intellectual disability, severe Telecanthus Fine hair Pulmonic stenosis Cerebral cortical atrophy Long face Hyperkeratosis Autism Ichthyosis Polyhydramnios High forehead Gastroesophageal reflux Dry skin Genu valgum Macrotia Hypotrichosis Prominent forehead Hypermetropia Nail dystrophy Coarse facial features Pectus carinatum Scarring Sparse hair Erythema Respiratory tract infection Feeding difficulties in infancy Redundant skin Low-set, posteriorly rotated ears Hydronephrosis Hyperhidrosis Bulbous nose Blindness Dental malocclusion Abnormality of the dentition Low posterior hairline Coarctation of aorta Cardiomegaly Short nose Long philtrum Progressive visual loss Malar flattening Hernia Growth hormone deficiency Webbed neck Premature birth Retinal dystrophy Intestinal malrotation Pectus excavatum Vesicoureteral reflux Nevus Full cheeks Palmoplantar keratoderma Inguinal hernia Constipation Alopecia High, narrow palate Posteriorly rotated ears Thick vermilion border Narrow forehead Slow-growing hair Brittle hair Poor speech Spontaneous abortion Muscle stiffness Increased body weight Decreased liver function Nephrolithiasis Involuntary movements Cholestasis Hepatitis Coma Polyneuropathy Hemolytic anemia Hepatic failure Nausea Confusion Infertility Nephrocalcinosis Nausea and vomiting Anxiety Elevated hepatic transaminase Arthralgia Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Abnormal location of ears Abnormality of the hairline Aminoaciduria Leukoencephalopathy Tongue thrusting Esophageal varix Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Chondrocalcinosis Drooling Glycosuria Abnormality of the hand Back pain Hypercalciuria Abnormality of mitochondrial metabolism Personality changes Global brain atrophy Osteomalacia Acute hepatic failure Arthropathy Joint swelling Hypoparathyroidism Hand tremor Increased reactive oxygen species production Renal tubular dysfunction Hyperkeratosis pilaris Functional abnormality of the gastrointestinal tract Failure to thrive in infancy Infantile spasms Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Curly hair Biparietal narrowing Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Neurofibromas Hypoplasia of the zygomatic bone Chronic otitis media Bilateral ptosis Sparse eyebrow Scaling skin Pleural effusion Ectropion Cubitus valgus Heart murmur Neurodevelopmental delay Obsessive-compulsive behavior Absent eyebrow Large for gestational age Open bite Malnutrition Aplasia/Hypoplasia of the eyebrow Absent eyelashes Premature skin wrinkling Laryngeal cleft Excessive wrinkled skin Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Abnormality of the pulmonary artery Abnormality of the gastrointestinal tract Delayed CNS myelination Short attention span Woolly hair Thick upper lip vermilion Abnormal hair pattern Dystrophic fingernails Abnormality of the optic nerve Abnormality of refraction Hyperextensibility of the finger joints Deep palmar crease Gastrointestinal dysmotility Abnormal mitral valve morphology Prolonged G2 phase of cell cycle Thickened helices Subvalvular aortic stenosis Anemic pallor Hip dislocation Abnormal carotid artery morphology Resting tremor Recurrent bacterial skin infections Macular hypoplasia Partial albinism Progressive peripheral neuropathy Hemophagocytosis Spinocerebellar tract degeneration White hair Fair hair Periodontitis Gingivitis Iris hypopigmentation Hypopigmentation of hair Sensory axonal neuropathy Hypofibrinogenemia Cerebral hemorrhage Decreased nerve conduction velocity Foot dorsiflexor weakness Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Bradykinesia Peripheral demyelination Gastrointestinal hemorrhage Brain atrophy Sensory neuropathy Paraplegia Oculogyric crisis Abnormal leukocyte morphology Photophobia Hepatic fibrosis Bipolar affective disorder Protuberant abdomen Exertional dyspnea Petechiae Osteomyelitis Leukocytosis Clubbing Abnormality of the thorax Portal hypertension Cholelithiasis Spastic paraparesis Meningitis Anorexia Recurrent cutaneous abscess formation Apraxia Cyanosis Syncope Abnormality of eye movement Corneal opacity Abdominal pain Arrhythmia Diarrhea Motor delay Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Spastic paraplegia Hyporeflexia Edema of the lower limbs Tetraplegia Trismus Loss of speech Neurofibrillary tangles Prolonged neonatal jaundice Athetosis Dysphonia Intention tremor Intellectual disability, profound Spastic tetraplegia Mitral valve prolapse Neuronal loss in central nervous system Chorea Retinal degeneration Spastic dysarthria Generalized tonic-clonic seizures Skin rash Abnormal pyramidal sign Paralysis Neonatal hypotonia Hyperopic astigmatism Hypopigmentation of the fundus Impaired platelet aggregation Hypoplasia of the fovea Colitis Intracranial hemorrhage Muscle weakness Head tremor Aplasia/Hypoplasia of the abdominal wall musculature Areflexia Hydrops fetalis Recurrent infections Cerebellar atrophy Skeletal muscle atrophy Mitral valve calcification Aortic valve calcification Chronic fatigue Aspiration pneumonia Pulmonary infiltrates Macular atrophy Stridor Hyperkinesis Shock Hypertension Foam cells Pain Fatal liver failure in infancy Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Fetal ascites Rapid neurologic deterioration Bone-marrow foam cells Supranuclear ophthalmoplegia Cataplexy Visceromegaly Increased serum ferritin Avascular necrosis of the capital femoral epiphysis Almond-shaped palpebral fissure Glucose intolerance Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Acute myeloid leukemia Myeloid leukemia Absent thumb Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Tracheoesophageal fistula Arteriovenous malformation Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Hypopigmented skin patches Renal hypoplasia/aplasia Azoospermia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Abnormal eyelid morphology B-cell lymphoma Insulin resistance Duodenal stenosis Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Primary hypothyroidism Abnormality of the upper limb Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Aplastic anemia Abnormal vertebral morphology Short thumb Abnormality of the spleen Hematological neoplasm Heterotopia Aciduria Asthma Intellectual disability, moderate Acidosis Agenesis of corpus callosum Abnormality of metabolism/homeostasis Intellectual disability, mild Talipes equinovarus Incoordination Horizontal supranuclear gaze palsy Cardiac valve calcification Decreased beta-glucocerebrosidase protein and activity Microcephaly Biliary tract obstruction Vascular calcification Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Esodeviation Periorbital edema Generalized osteosclerosis Poor coordination Abnormal facial shape Telangiectasia Toe syndactyly Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Sloping forehead Tetralogy of Fallot Renal agenesis Vertigo Anal atresia Facial asymmetry Abnormality of the foot Finger syndactyly Cleft palate Small for gestational age Postnatal growth retardation Pes planus Hypothyroidism Diabetes mellitus Upslanted palpebral fissure Hypogonadism Severe short stature Patent ductus arteriosus Hypospadias Headache Microphthalmia Renal insufficiency Atypical or prolonged hepatitis



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