Cognitive impairment, and Atopic dermatitis

Diseases related with Cognitive impairment and Atopic dermatitis

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


Top matches:

Medium 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

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

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Other less relevant matches:

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 BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

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

Low match AICARDI-GOUTIERES SYNDROME 6; AGS6


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Top 5 symptoms//phenotypes associated to Cognitive impairment and Atopic dermatitis

Symptoms // Phenotype % cases
Inflammatory abnormality of the skin Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Asthma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cough Wheezing Intellectual disability Gastroesophageal reflux Dystonia Hypertonia Erythema Short stature Hearing impairment Ataxia Failure to thrive Generalized hypotonia Microcephaly Dysarthria Developmental regression Cerebral atrophy Hepatomegaly Feeding difficulties Growth delay Nystagmus

Rare Symptoms - Less than 30% cases


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



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