Ataxia, and Eczema
Diseases related with Ataxia and Eczema
In the following list you will find some of the most common rare diseases related to Ataxia and Eczema that can help you solving undiagnosed cases.
Top matches:
Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Growth delay
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
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PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.
PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about PGM3-CDG
Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.
CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1
Related symptoms:
- Seizures
- Short stature
- Ataxia
- Failure to thrive
- Anemia
SOURCES:
OMIM
MENDELIAN
More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
BIOTINIDASE DEFICIENCY Is also known as multiple carboxylase deficiency, late-onset|multiple carboxylase deficiency, juvenile-onset|btd deficiency|late-onset multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about BIOTINIDASE DEFICIENCY
Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase. Clinical features are somewhat variable, but include delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present. Two complementation groups have been described based on fibroblast studies: CblE (OMIM ) and CblG (Watkins and Rosenblatt, 1988). Most patients present in early infancy, but some patients with CblG have shown later onset (Outteryck et al., 2012). Cells from patients with CblE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. Cells from patients with CblG have defects in the methionine synthase enzyme under both conditions (summary by Leclerc et al., 1996).CblE is caused by mutation in the MTRR gene (OMIM ).Watkins and Rosenblatt (1989) commented on the clinical and biochemical heterogeneity in patients with cblE and cblG.
METHYLCOBALAMIN DEFICIENCY TYPE CBLG Is also known as functional methionine synthase deficiency type cblg|methylcobalamin deficiency, cblg type|homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type|methionine synthase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLG
Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER
VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
MENDELIAN
More info about VELOCARDIOFACIAL SYNDROME
Top 5 symptoms//phenotypes associated to Ataxia and Eczema
Symptoms // Phenotype |
% cases |
Seizures |
Very Common - Between 80% and 100% cases
|
Generalized hypotonia |
Very Common - Between 80% and 100% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Failure to thrive |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Ataxia and Eczema. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Growth delay
Uncommon Symptoms - Between 30% and 50% cases
Vomiting
Microcephaly
Scoliosis
Diarrhea
Inflammatory abnormality of the skin
Aciduria
Short stature
Hypertonia
Anemia
Hearing impairment
Postnatal growth retardation
Recurrent infections
Feeding difficulties in infancy
Irritability
Anxiety
Skin rash
Muscular hypotonia
Lethargy
Alopecia
High palate
Basal ganglia calcification
Feeding difficulties
Delayed speech and language development
Depressivity
Bulbous nose
Rare Symptoms - Less than 30% cases
Vasculitis
Recurrent skin infections
Narrow palpebral fissure
Abdominal pain
Arthralgia
Fatigue
Hypertelorism
Lymphoma
Neutropenia
Hemolytic anemia
Abnormality of the nervous system
Conductive hearing impairment
Gastroesophageal reflux
Immunodeficiency
Brachydactyly
Cognitive impairment
Abnormal facial shape
Sensorineural hearing impairment
Cataract
Erythema
Autoimmunity
Fever
Conjunctivitis
Poor coordination
Renal insufficiency
Blindness
Tremor
Short neck
Flexion contracture
Pain
Nystagmus
Seborrheic dermatitis
Urticaria
Hypoplasia of the corpus callosum
Arthritis
Splenomegaly
Cerebellar atrophy
Purpura
Myopia
Hepatomegaly
Constipation
Recurrent aphthous stomatitis
Macrocytic anemia
Hypocalcemia
Abdominal distention
Apathy
Spasticity
Infertility
Deeply set eye
Gait disturbance
Hyperactivity
Desquamation of skin soon after birth
Keratoconjunctivitis
Hypotrichosis
Lactic acidosis
Perioral eczema
Organic aciduria
Hyperventilation
Dystonia
Severe global developmental delay
Hyperammonemia
Acidosis
Cerebellar vermis hypoplasia
Intellectual disability, severe
Weight loss
Thrombocytopenia
Thickened helices
Respiratory distress
Macrotia
Coma
Abnormality of the pinna
Intrauterine growth retardation
Tachypnea
Autistic behavior
Metabolic acidosis
Peritonitis
Episodic fever
Uveitis
Congenital conductive hearing impairment
Peripheral visual field loss
Posterior subcapsular cataract
Acrocyanosis
Large forehead
Chills
Optic neuritis
Increased IgA level
Central nervous system degeneration
Hernia
Absent speech
Abnormality of cardiovascular system morphology
Behavioral abnormality
Atrial septal defect
Hydrocephalus
Aplasia of the thymus
Arteria lusoria
Ventricular septal defect
Neuritis
Cleft palate
Vascular ring
Perineal fistula
Pharyngitis
Serositis
Cervical lymphadenopathy
Neutrophilia
Erysipelas
Porokeratosis
Subcapsular cataract
Truncus arteriosus
Amyloidosis
Pneumonia
Cough
Nyctalopia
Pallor
Myalgia
Hepatosplenomegaly
Hyperhidrosis
Rod-cone dystrophy
Headache
Vertigo
Frontal bossing
Unilateral lung agenesis
Neoplasm
Abnormality of the septum pellucidum
Talipes cavus equinovarus
Prominent protruding coccyx
Broad chin
Thickened ears
Papule
Lymphadenopathy
Colitis
Recurrent pneumonia
Elevated erythrocyte sedimentation rate
Hypermelanotic macule
Leukocytosis
Intestinal obstruction
Obesity
Right aortic arch with mirror image branching
Sacral meningocele
Long eyelashes
Nausea
Nephrotic syndrome
Optic disc pallor
Dehydration
Gastrointestinal hemorrhage
Migraine
Limitation of joint mobility
Sepsis
Retinal dystrophy
Psychotic episodes
Retrognathia
Hypospadias
Abnormality of the ear
Anal stenosis
Autoimmune thrombocytopenia
Paranoia
Submucous cleft hard palate
Retinal vascular tortuosity
Axonal loss
Autoimmune hemolytic anemia
Myopathic facies
Bipolar affective disorder
Inflammation of the large intestine
Hypoplasia of the brainstem
Acne
Unilateral renal agenesis
Obsessive-compulsive behavior
Psoriasiform dermatitis
Rheumatoid arthritis
Giant platelets
Posterior embryotoxon
Duodenal stenosis
Cholelithiasis
Delusions
Echolalia
Abnormality of the endocrine system
Pulmonary artery atresia
Juvenile rheumatoid arthritis
Aplasia of the uterus
Pierre-Robin sequence
Graves disease
Interrupted aortic arch
Impaired T cell function
Perimembranous ventricular septal defect
Meningocele
Hearing abnormality
Hypoparathyroidism
Platybasia
Mood swings
Right aortic arch
Vitiligo
Dysdiadochokinesis
Caesarian section
Patent ductus arteriosus
Mental deterioration
Chorea
Bifid uvula
Dysmetria
Anal atresia
Pulmonic stenosis
Congenital cataract
Blepharophimosis
Aggressive behavior
Underdeveloped nasal alae
Umbilical hernia
Myelomeningocele
Hypothyroidism
Posteriorly rotated ears
Conotruncal defect
Dementia
Inguinal hernia
Abnormal heart morphology
Vesicoureteral reflux
Renal agenesis
Nasal speech
Hallucinations
Abnormality of the hand
Schizophrenia
Arnold-Chiari malformation
Bicuspid aortic valve
Holoprosencephaly
Multicystic kidney dysplasia
Spina bifida
Renal dysplasia
Specific learning disability
Open mouth
Primary amenorrhea
Low posterior hairline
Velopharyngeal insufficiency
Psychosis
Tetralogy of Fallot
Peripheral demyelination
Amenorrhea
Prominent coccyx
Hemolytic-uremic syndrome
Sleep-wake cycle disturbance
Cortical myoclonus
Cerebral calcification
Nevus
Polyneuropathy
Delayed puberty
Malabsorption
Elevated hepatic transaminase
Osteoporosis
Autoimmune neutropenia
Chronic diarrhea
Vasculitis in the skin
Membranoproliferative glomerulonephritis
Allergic rhinitis
Severe combined immunodeficiency
Atopic dermatitis
Combined immunodeficiency
Glomerulonephritis
Hypoplasia of dental enamel
Type I diabetes mellitus
Lymphopenia
Thrombocytosis
Vitamin D deficiency
Folate deficiency
Abnormality of the abdominal wall
Prolonged prothrombin time
Stomatitis
Prolonged partial thromboplastin time
Chronic fatigue
Iron deficiency anemia
Spontaneous abortion
Thyroiditis
IgA deficiency
Celiac disease
Steatorrhea
Malnutrition
Abnormality of the coagulation cascade
Rickets
Abnormal intestine morphology
Leukopenia
Bronchiectasis
Vitamin B12 deficiency
Failure to thrive in infancy
Gait ataxia
Motor delay
Congenital lactic acidosis
Anorexia
Nausea and vomiting
Small earlobe
Hallux valgus
Thick lower lip vermilion
Fine hair
Hypotelorism
Narrow forehead
Febrile seizures
Small for gestational age
Autism
Cerebral cortical atrophy
Micrognathia
Delayed eruption of teeth
Choreoathetosis
Sensory impairment
Increased urinary sulfite
Asthma
Respiratory tract infection
Myoclonus
Recurrent respiratory infections
Hyporeflexia
Abnormality of the skeletal system
Dysarthria
Decreased urinary sulfate
Aspiration
Sulfite oxidase deficiency
Molybdenum cofactor deficiency
Generalized dystonia
Restlessness
Agitation
Ectopia lentis
Hemiplegia
Infantile muscular hypotonia
Vitamin K deficiency
Muscle weakness
Short digit
Proptosis
Abnormality of eye movement
Synophrys
Attention deficit hyperactivity disorder
Sparse hair
Protruding ear
Thin upper lip vermilion
Osteopenia
Prominent forehead
Joint hypermobility
Cerebellar hypoplasia
Pectus excavatum
Long philtrum
Kyphosis
Anteverted nares
Ventriculomegaly
Dysphagia
Long face
Hirsutism
Low-set ears
Oral-pharyngeal dysphagia
Toenail dysplasia
Nasolacrimal duct obstruction
Gait imbalance
Depressed nasal tip
Aplasia cutis congenita
Spastic diplegia
Flat occiput
Chronic otitis media
High, narrow palate
Prominent supraorbital ridges
Delayed gross motor development
Sacral dimple
Reduced tendon reflexes
Microretrognathia
Pointed chin
Hip dysplasia
Broad nasal tip
Downslanted palpebral fissures
Strabismus
Optic atrophy
Bronchitis
Metabolic ketoacidosis
Laryngeal stridor
Diffuse cerebellar atrophy
Recurrent fungal infections
Alcoholism
Diffuse cerebral atrophy
Iris hypopigmentation
Infantile spasms
Hypertension
Visual field defect
Stridor
High myopia
Generalized myoclonic seizures
Abnormal cerebellum morphology
Developmental regression
Apnea
Visual loss
Decreased biotinidase activity
Peripheral neuropathy
Hypomethioninemia
Optic neuropathy
Decreased methionine synthase activity
Decreased methylcobalamin
Hyperhomocystinemia
Rotary nystagmus
Homocystinuria
Methylmalonic aciduria
Megaloblastic anemia
Slender finger
Cerebral atrophy
Leukoencephalopathy
Paraparesis
Generalized-onset seizure
Unsteady gait
EEG abnormality
Jaundice
Pes planus
Respiratory failure
Unilateral primary pulmonary dysgenesis
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