Ataxia, and Atopic dermatitis

Diseases related with Ataxia and Atopic dermatitis

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


Top matches:

Medium 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 MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low 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

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Other less relevant matches:

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

Low match AICARDI-GOUTIERES SYNDROME 7; AGS7


Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Low match ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1


Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 Is also known as as1|asrt1

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1

Low match ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2


Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 Is also known as asrt2

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2

Low match ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5


Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 Is also known as asrt5

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5

Low match ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7


Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7

Low match LYMPHOMA, HODGKIN, CLASSIC; CHL


Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease

Related symptoms:

  • Ataxia
  • Neoplasm
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHOMA, HODGKIN, CLASSIC; CHL

Top 5 symptoms//phenotypes associated to Ataxia and Atopic dermatitis

Symptoms // Phenotype % cases
Inflammatory abnormality of the skin Common - Between 50% and 80% cases
Asthma Common - Between 50% and 80% cases
Dyspnea Uncommon - Between 30% and 50% cases
Cough Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Atopic dermatitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Wheezing Seizures Global developmental delay Erythema Growth delay Cerebral atrophy Abnormality of the dentition Splenomegaly Feeding difficulties Gastroesophageal reflux Neoplasm Pruritus Short stature Hearing impairment Dysarthria Anemia Generalized hypotonia Failure to thrive

Rare Symptoms - Less than 30% cases


Encephalopathy Depressivity Delayed skeletal maturation Coarse facial features Sensorineural hearing impairment Kyphosis Dystonia Hypertonia Irritability Congestive heart failure Vomiting Skin rash Blindness Cardiomyopathy Short neck Respiratory insufficiency Ventriculomegaly Constipation Increased antibody level in blood Cerebral cortical atrophy Abnormality of the cardiovascular system Bilateral ptosis Hemiplegia Poor appetite Cerebral visual impairment Anorexia Decreased body weight Hemiparesis Nephrotic syndrome Basal ganglia calcification Migraine Weight loss Peripheral axonal neuropathy Ichthyosis Neurological speech impairment Developmental regression Feeding difficulties in infancy Hypertrophic cardiomyopathy Abnormality of the cerebral white matter EEG abnormality Fatigue Leukemia Dysphagia Autism Recurrent infections Alopecia Sensory impairment Immunodeficiency Thrombocytopenia Myoclonus Respiratory tract infection Combined immunodeficiency Lymphadenopathy Recurrent skin infections Microcephaly Hypertelorism Nystagmus Lymphoma Muscular hypotonia Cataract Ptosis Optic atrophy Hemolytic anemia Fever Eczema Hyporeflexia Peripheral neuropathy Vasculitis Hyperhidrosis Cognitive impairment High palate Scoliosis Oculomotor apraxia Intellectual disability, severe Behavioral abnormality Cutis laxa Sparse eyelashes Thickened skin Narrow palate Abnormality of the nail Aspiration Hyperpigmentation of the skin Lymphedema Cafe-au-lait spot Aplasia/Hypoplasia of the corpus callosum Open mouth Myocardial infarction Fine hair Low posterior hairline Coarctation of aorta Cardiomegaly Narrow forehead Abnormal palate morphology Polyhydramnios Hemangioma Failure to thrive in infancy Large for gestational age Absent eyebrow Obsessive-compulsive behavior Heart murmur Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Scaling skin Sparse eyebrow Atrial septal defect Brittle hair Sleep apnea Redundant skin Deep philtrum Hyperextensible skin Edema Poor suck Relative macrocephaly Abnormality of vision Palmoplantar hyperkeratosis Growth hormone deficiency Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Progressive visual loss Abdominal distention Webbed neck Inguinal hernia Hydrocephalus Pectus carinatum Hernia Malnutrition Abnormal cardiac septum morphology Scarring Sparse hair Pectus excavatum Abnormality of the kidney Abnormality of the eye Abnormal heart morphology Low-set, posteriorly rotated ears Nail dystrophy Telecanthus Aggressive behavior Hydronephrosis Umbilical hernia Clinodactyly of the 5th finger Posteriorly rotated ears Osteopenia Prominent forehead Macrotia Hyperkeratosis High forehead Proptosis Abnormality of cardiovascular system morphology Dolichocephaly Dental malocclusion Retinal dystrophy Premature birth Short nose Intestinal malrotation Vesicoureteral reflux Nevus Full cheeks Abnormal bleeding Palmoplantar keratoderma Sleep disturbance High, narrow palate Hepatic steatosis Thick vermilion border Bruising susceptibility Hypermetropia Bulbous nose Falls Joint hypermobility Long face Abnormality of skin pigmentation Dry skin Astigmatism Long philtrum Genu valgum Pulmonic stenosis Malar flattening Hypotrichosis Open bite Gastrointestinal dysmotility Hydroureter Eosinophilia Recurrent upper and lower respiratory tract infections Cerebral vasculitis Recurrent fungal infections Recurrent sinopulmonary infections Recurrent viral infections Esophagitis Recurrent lower respiratory tract infections Subarachnoid hemorrhage Recurrent sinusitis Pericarditis Autoimmune hemolytic anemia Osteomyelitis Recurrent bacterial infections Spasticity Meningitis Sinusitis Abnormal lung morphology Recurrent otitis media Otitis media 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 Anaphylactic shock Intrauterine growth retardation Abnormal location of ears Progressive spastic paraplegia Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Lung adenocarcinoma Cellular immunodeficiency Hemoptysis Hodgkin lymphoma Osteolysis Bone marrow hypocellularity Bone pain Chest pain Chilblains Serositis Pericardial effusion Absent speech Toe walking Spastic tetraparesis Progressive microcephaly Lower limb spasticity Progressive neurologic deterioration Tetraparesis Spastic tetraplegia Brain atrophy Tetraplegia Paraplegia Abnormality of eye movement Spastic paraplegia Muscular hypotonia of the trunk Puberty and gonadal disorders Abnormality of the hairline Aplasia/Hypoplasia of the eyebrow Abnormal eyelash morphology Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Alopecia of scalp Abnormality of the testis Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Neurodevelopmental delay Abnormality of the optic nerve Delayed CNS myelination Hyperkeratosis pilaris Sparse or absent eyelashes Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft 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 Multiple lentigines Abnormal myocardium morphology Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Ventricular septal defect Deep palmar crease Abnormality of refraction Anteverted nares Leber optic atrophy Frontal bossing Polymicrogyria Hip dysplasia Memory impairment Increased serum lactate Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Postural instability Coma Polyneuropathy Nephropathy Hirsutism Nausea Amenorrhea Lactic acidosis Vertigo Confusion Paresthesia Dysmetria Anal atresia Delayed puberty Malabsorption Nausea and vomiting Carious teeth Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Specific learning disability Cerebral calcification Generalized tonic-clonic seizures Clonus Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Truncal ataxia Cardiac arrest Hallucinations Pigmentary retinopathy Abnormality of retinal pigmentation Gingival overgrowth Left ventricular hypertrophy Involuntary movements Hypertrichosis Atrial fibrillation Ventricular hypertrophy Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Bilateral sensorineural hearing impairment Generalized-onset seizure Lethargy Dilated cardiomyopathy Ischemic stroke Membranoproliferative glomerulonephritis Gait disturbance Tremor Skeletal muscle atrophy Hyperreflexia Hypertension Motor delay Visual impairment Pain Muscle weakness Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Allergic rhinitis Myopathy Severe combined immunodeficiency Glomerulonephritis Leukopenia Narrow palpebral fissure Lymphopenia Bronchiectasis Neutropenia Abnormality of the nervous system Conductive hearing impairment Recurrent respiratory infections Abnormality of the skeletal system Brachydactyly Abnormal facial shape Respiratory distress Cerebellar atrophy Stroke Hypothyroidism Attention deficit hyperactivity disorder Nyctalopia Abnormality of the liver Protruding ear Abnormality of the pinna Mental deterioration Apnea Proteinuria Anxiety Myalgia Photophobia Jaundice Acidosis Gait ataxia Diarrhea Abdominal pain Diabetes mellitus Hypogonadism Osteoporosis Dementia Rod-cone dystrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Areflexia Arrhythmia Visual loss Headache Renal insufficiency Ragged-red muscle fibers Hypopigmented skin patches Downslanted palpebral fissures Episodic vomiting Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Abnormality of the renal tubule Psychotic episodes Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Tubulointerstitial abnormality Abnormality of the cerebellar vermis Increased CSF lactate Episodic quadriplegia Macrocephaly Myopia Epicanthus Depressed nasal bridge Delayed speech and language development Low-set ears Cryptorchidism Strabismus Micrognathia Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Abnormality of acid-base homeostasis Crohn's disease Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Wolff-Parkinson-White syndrome Visual hallucinations Mutism Personality changes Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Ophthalmoparesis Hyperkalemia Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Dysphasia Visual field defect Tubulointerstitial nephritis Neonatal hypoglycemia Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Abnormality of visual evoked potentials Prolonged QT interval Hashimoto thyroiditis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Polyclonal elevation of IgM



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Intrauterine growth retardation, related diseases and genetic alterations Spasticity and Hepatomegaly, related diseases and genetic alterations Cryptorchidism and Sleep disturbance, related diseases and genetic alterations Peripheral neuropathy and High forehead, related diseases and genetic alterations Cleft palate and Finger syndactyly, related diseases and genetic alterations Ataxia and Spastic tetraplegia, related diseases and genetic alterations

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