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:

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Low match HOLOCARBOXYLASE SYNTHETASE DEFICIENCY


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

Low match SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD


SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD Is also known as sulfocysteinuria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match PGM3-CDG


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

Low match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


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

Low match BIOTINIDASE DEFICIENCY


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

Low match METHYLCOBALAMIN DEFICIENCY TYPE CBLG


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

Low match X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Low match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


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

Low match VELOCARDIOFACIAL SYNDROME


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
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Neutropenia, related diseases and genetic alterations Fever and Macroglossia, related diseases and genetic alterations Hyperreflexia and Gastroesophageal reflux, related diseases and genetic alterations Spasticity and Iris coloboma, related diseases and genetic alterations Muscle weakness and Thick vermilion border, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more