Tremor, and Atopic dermatitis

Diseases related with Tremor and Atopic dermatitis

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


Top matches:

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 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 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 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 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6


EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

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 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Wheezing Growth delay Short stature Feeding difficulties Hearing impairment Generalized hypotonia Cough Gastroesophageal reflux Failure to thrive Delayed skeletal maturation Ventriculomegaly Cerebral atrophy High palate Vomiting Hypertrophic cardiomyopathy Cardiomyopathy Erythema Short neck Scoliosis Dysarthria Hepatomegaly Ataxia Hypertelorism Ptosis Ichthyosis

Rare Symptoms - Less than 30% cases


Macrotia Thrombocytopenia Relative macrocephaly Deep philtrum Failure to thrive in infancy Anteverted nares Basal ganglia calcification Hydrocephalus Aplasia/Hypoplasia of the eyebrow Atrial septal defect Neurodevelopmental delay Arnold-Chiari type I malformation Bilateral ptosis Abnormality of the testis Short nose Abnormality of refraction Slow-growing hair Abnormal palate morphology Thickened helices Abnormality of the pulmonary artery Cerebral visual impairment Decreased body weight Hemiparesis Posteriorly rotated ears Ventricular hypertrophy Nephrotic syndrome Abnormality of the cardiovascular system Alopecia Abnormal location of ears Abnormality of cardiovascular system morphology Sensory impairment Peripheral axonal neuropathy Optic nerve hypoplasia Hyperpigmentation of the skin Vasculitis Macrocephaly Strabismus Umbilical hernia High forehead Cryptorchidism Low-set ears Eczema Delayed speech and language development Respiratory tract infection Epicanthus Low-set, posteriorly rotated ears Pectus excavatum Irritability Sparse hair Brachydactyly Abnormal facial shape Cafe-au-lait spot Joint hypermobility Low posterior hairline Micrognathia Growth hormone deficiency Webbed neck High, narrow palate Ventricular septal defect Pulmonic stenosis Carious teeth Hypotrichosis Abnormality of the cerebral white matter Dolichocephaly Pectus carinatum Downslanted palpebral fissures Prominent forehead Coarctation of aorta Splenomegaly Cerebral cortical atrophy Attention deficit hyperactivity disorder Pruritus Hypothyroidism Depressivity Developmental regression Neurological speech impairment Dysphagia Feeding difficulties in infancy Kyphosis Dystonia Hypertonia Blindness Myoclonus Abnormality of the dentition Optic atrophy Encephalopathy Congestive heart failure Constipation Microcephaly Nystagmus EEG abnormality Autism Hyporeflexia Sensorineural hearing impairment Anemia Muscular hypotonia Cognitive impairment Cataract Dental malocclusion Retinal dystrophy Thick vermilion border Hepatic steatosis Abdominal distention Abnormal bleeding Intestinal malrotation Vesicoureteral reflux Nevus Sleep disturbance Coarse hair Palmoplantar keratoderma Full cheeks Premature birth Open mouth Increased intracranial pressure Sparse eyelashes Abnormality of vision Palmoplantar hyperkeratosis Hoarse voice Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Hypocalcemia Cutis laxa Oculomotor apraxia Narrow palate Progressive visual loss Abnormality of the nail Aspiration Abnormality of the fingernails Lymphedema Infantile muscular hypotonia Thickened skin Bulbous nose Myocardial infarction Fine hair Arnold-Chiari malformation Cardiomegaly Narrow forehead Bruising susceptibility Pericardial effusion Falls Inguinal hernia Osteopenia Fragile nails Hypomagnesemia Polyhydramnios Proptosis Hyperkeratosis Hyperhidrosis Abnormally large globe Clinodactyly of the 5th finger Enlarged cisterna magna Hiatus hernia Redundant neck skin Peripheral pulmonary artery stenosis Dermal translucency Abnormality of the intervertebral disk Abnormal heart morphology Superior pectus carinatum Hernia Loose anagen hair Broad fingertip Malar flattening Coarse facial features Abnormality of the elbow Nasal speech Leukemia Long face Abnormality of skin pigmentation Dry skin Astigmatism Genu valgum Patent foramen ovale Hypermetropia Overfolded helix Hypoplastic toenails Poor suck Abnormal cardiac septum morphology Hydronephrosis Scarring Right bundle branch block Abnormality of coagulation Abnormality of the kidney Abnormality of the eye Freckling Natal tooth Telecanthus Aggressive behavior Broad neck Nail dystrophy Mitral regurgitation Hyperextensible skin Optic nerve dysplasia Puberty and gonadal disorders Abnormality of the hairline Hyperkeratosis pilaris Patent ductus arteriosus Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hyperactivity Hypoplasia of the frontal lobes Retrognathia Patchy alopecia Cutaneous T-cell lymphoma Hypoglycemia 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 Excessive wrinkled skin Morphological abnormality of the gastrointestinal tract Inappropriate crying Abnormal aortic valve morphology Tetraplegia Progressive spastic paraplegia Toe walking Spastic tetraparesis Progressive microcephaly Lower limb spasticity Progressive neurologic deterioration Tetraparesis Spastic tetraplegia Serositis Brain atrophy Chilblains Lymphadenopathy Abnormality of the auditory canal Paraplegia Abnormality of eye movement Spastic paraplegia Skin rash Muscular hypotonia of the trunk Absent speech Intrauterine growth retardation Spasticity Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Hyperextensibility of the finger joints Subvalvular aortic stenosis Thin skin Large for gestational age Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Thick lower lip vermilion Sparse scalp hair Hydroureter Malnutrition Open bite Absent eyebrow Curly hair Obsessive-compulsive behavior Heart murmur Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Scaling skin Sparse eyebrow Increased antibody level in blood Brittle hair Redundant skin Biparietal narrowing Generalized hyperpigmentation Postnatal growth retardation Woolly hair Craniosynostosis Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Thin vermilion border Wide intermamillary distance Delayed CNS myelination Dandy-Walker malformation Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Short attention span Submucous cleft hard palate Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Cyanosis Abnormal eyelash morphology Alopecia of scalp Poor appetite Underdeveloped supraorbital ridges Anal stenosis Abnormal myocardium morphology Recurrent respiratory infections Long philtrum Generalized-onset seizure Abnormality of retinal pigmentation Gingival overgrowth Anorexia Left ventricular hypertrophy Involuntary movements Hypertrichosis Atrial fibrillation Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Bilateral sensorineural hearing impairment Pigmentary retinopathy Clonus Cerebral calcification Amenorrhea 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 Hallucinations Cardiac arrest Nephropathy Schizophrenia Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Mutism Truncal ataxia Hypopigmented skin patches Ischemic stroke 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 Polyneuropathy Hirsutism Personality changes Cerebellar atrophy Diabetes mellitus Hypogonadism Osteoporosis Dementia Rod-cone dystrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Areflexia Arrhythmia Visual loss Headache Renal insufficiency Diarrhea Myopathy Gait ataxia Respiratory distress Respiratory insufficiency Fatigue Gait disturbance Skeletal muscle atrophy Fever Hyperreflexia Peripheral neuropathy Hypertension Motor delay Visual impairment Pain Muscle weakness Abdominal pain Weight loss Polymicrogyria Lethargy Nausea Lactic acidosis Vertigo Confusion Paresthesia Dysmetria Anal atresia Delayed puberty Malabsorption Nausea and vomiting Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Acidosis Dilated cardiomyopathy Stroke Nyctalopia Abnormality of the liver Protruding ear Abnormality of the pinna Mental deterioration Apnea Proteinuria Anxiety Myalgia Photophobia Jaundice Ophthalmoparesis Intestinal obstruction Behavioral abnormality Hemeralopia Abnormality of acid-base homeostasis 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 Crohn's disease Bilateral intracranial calcifications Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Episodic quadriplegia Morphological abnormality of the vestibule of the inner ear Dysesthesia Glomerulonephritis Intellectual disability, severe Edema Frontal bossing Myopia Depressed nasal bridge Neoplasm Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Combined immunodeficiency Recurrent skin infections Morphological abnormality of the inner ear Leukopenia Narrow palpebral fissure Lymphopenia Bronchiectasis Lymphoma Neutropenia Hemolytic anemia Abnormality of the nervous system Conductive hearing impairment Recurrent infections Immunodeficiency Abnormality of the skeletal system Prominent ear helix Psychomotor deterioration Motor polyneuropathy Aplasia/Hypoplasia of the cerebellum Multiple lipomas Abnormality of visual evoked potentials 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 Prolonged QT interval Vitiligo Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Neonatal hypoglycemia Xerostomia Episodic vomiting Cerebral ischemia Abnormality of the renal tubule 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 Wolff-Parkinson-White syndrome Heart block Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Abnormality of the nasal bridge



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