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:
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
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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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
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
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
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
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
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
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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Spasticity and Delayed myelination, related diseases and genetic alterations
Abnormal facial shape and Short foot, related diseases and genetic alterations
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