Muscle weakness, and Atopic dermatitis

Diseases related with Muscle weakness and Atopic dermatitis

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


Top matches:

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

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 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

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Other less relevant 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 EVEN-PLUS SYNDROME


EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

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 Muscle weakness and Atopic dermatitis

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

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Dyspnea Cough Growth delay Wheezing Abnormal facial shape Hearing impairment Failure to thrive Short neck Delayed skeletal maturation Abnormality of the dentition Seizures Gastroesophageal reflux High palate Feeding difficulties

Rare Symptoms - Less than 30% cases


Hyporeflexia High forehead Erythema Myoclonus Dysarthria Brachydactyly Postnatal growth retardation Eczema Anemia Cognitive impairment Sensorineural hearing impairment Ataxia Scoliosis Sensory impairment Atrial septal defect Ventricular hypertrophy Overlapping toe Anteverted nares Deep philtrum Hypothyroidism Patent foramen ovale Short nose Carious teeth Abnormality of the pinna Anal atresia Hypertelorism Sparse hair Basal ganglia calcification Ichthyosis Vomiting Cardiomyopathy Ventriculomegaly Attention deficit hyperactivity disorder Ptosis Hypertrophic cardiomyopathy Microcephaly Nephrotic syndrome Dystonia Cerebral atrophy Developmental regression Mitral regurgitation Hepatomegaly Abnormality of the skeletal system Vasculitis Cochlear malformation Abnormal mitochondrial shape Cochlear degeneration Glomerulopathy Abnormality of the cerebellar vermis Progressive night blindness Hyperthyroidism Abnormal mitochondrial morphology Edema of the dorsum of hands Abnormal macular morphology Crohn's disease Paralytic ileus Paronychia Hemeralopia Thyroiditis Spotty hypopigmentation Abnormality of immune system physiology Rhabdomyolysis Aortic dissection Progressive sensorineural hearing impairment Depressed nasal bridge Severe short stature Bundle branch block Agenesis of corpus callosum Midface retrusion Aphasia Vestibular dysfunction Dysphasia Hyperkalemia Visual field defect Prominent ear helix Abnormal cochlea morphology Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Prolonged QT interval Multiple lipomas Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Vertebral fusion Tubulointerstitial abnormality Homonymous hemianopia Psychotic episodes Abnormal nerve conduction velocity Renal Fanconi syndrome Heart block Abnormality of visual evoked potentials Anterior hypopituitarism Neonatal hypoglycemia Gait imbalance Reduced consciousness/confusion Cerebral ischemia Vitiligo Xerostomia Wolff-Parkinson-White syndrome Increased CSF lactate Drowsiness Visual hallucinations Hypoparathyroidism Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Delusions Cardiorespiratory arrest Facial diplegia Tubulointerstitial nephritis Hashimoto thyroiditis Seborrheic dermatitis Renal tubular dysfunction Dysesthesia Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Primary adrenal insufficiency Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Motor polyneuropathy Distal arthrogryposis Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Pulmonary embolism Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Stroke-like episode Anotia Brachycephaly Abnormal palate morphology Hypoplastic toenails Overfolded helix Failure to thrive in infancy Nasal speech Relative macrocephaly Coarse hair Optic nerve hypoplasia Increased intracranial pressure Arnold-Chiari malformation Infantile muscular hypotonia Abnormality of the fingernails Aplasia/Hypoplasia of the eyebrow Hypocalcemia Hoarse voice Hyperpigmentation of the skin Cafe-au-lait spot Thin skin Sparse scalp hair Thick lower lip vermilion Low posterior hairline Coarctation of aorta Cyanosis Right bundle branch block Abnormality of coagulation Wide intermamillary distance Abnormality of refraction Broad fingertip Loose anagen hair Abnormal location of ears Superior pectus carinatum Abnormality of the intervertebral disk Dermal translucency Abnormality of the pulmonary artery Thickened helices Peripheral pulmonary artery stenosis Slow-growing hair Redundant neck skin Neurodevelopmental delay Abnormality of the testis Enlarged cisterna magna Abnormally large globe Hypomagnesemia Fragile nails Hiatus hernia Abnormality of the elbow Broad neck Arnold-Chiari type I malformation Natal tooth Freckling Dandy-Walker malformation Growth hormone deficiency Neonatal hypotonia Metaphyseal dysplasia Strabismus Micrognathia Dysplasia of the femoral head Hypoplastic helices Dysplastic corpus callosum Vertebral clefting Coronal cleft vertebrae Bifid nasal tip Hypoplasia of the odontoid process Aplasia cutis congenita Epiphyseal dysplasia Low-set ears Abnormality of the outer ear Recurrent urinary tract infections Depressed nasal ridge Renal hypoplasia Oligohydramnios Vesicoureteral reflux Hypodontia Highly arched eyebrow Flat face Synophrys Microtia Cryptorchidism Delayed speech and language development Webbed neck Umbilical hernia High, narrow palate Thin vermilion border Joint hypermobility Pulmonic stenosis Hypotrichosis Dolichocephaly Pectus carinatum Craniosynostosis Low-set, posteriorly rotated ears Hypoglycemia Retrognathia Epicanthus Macrotia Hyperactivity Prominent forehead Posteriorly rotated ears Patent ductus arteriosus Pectus excavatum Abnormality of cardiovascular system morphology Hydrocephalus Ventricular septal defect Downslanted palpebral fissures Macrocephaly Adrenal insufficiency Ragged-red muscle fibers Abnormality of neuronal migration Hypertension Respiratory insufficiency Dysphagia Fatigue Gait disturbance Tremor Optic atrophy Skeletal muscle atrophy Fever Hyperreflexia Peripheral neuropathy Motor delay Blindness Visual impairment Cataract Pain Muscular hypotonia Nystagmus Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Respiratory distress Myopathy Combined immunodeficiency Constipation Weight loss Gait ataxia Cerebral cortical atrophy Abdominal pain Diabetes mellitus Hypogonadism Osteoporosis Dementia Rod-cone dystrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Cerebellar atrophy Areflexia Arrhythmia Visual loss Encephalopathy Depressivity Headache Renal insufficiency Kyphosis Hypertonia Congestive heart failure Diarrhea Severe combined immunodeficiency Glomerulonephritis Acidosis Absent speech Lymphadenopathy Paraplegia Abnormality of eye movement Abnormality of the cerebral white matter Spastic paraplegia Skin rash Irritability Muscular hypotonia of the trunk Alopecia Thrombocytopenia Splenomegaly Brain atrophy Intrauterine growth retardation Spasticity Calcification of the aorta Pulmonary edema Aortic valve stenosis Dry skin Arthritis Hyperkeratosis Glaucoma Edema Flexion contracture Tetraplegia Spastic tetraplegia Recurrent skin infections Recurrent respiratory infections Leukopenia Narrow palpebral fissure Lymphopenia Bronchiectasis Lymphoma Neutropenia Hemolytic anemia Respiratory tract infection Abnormality of the nervous system Conductive hearing impairment Recurrent infections Tetraparesis Immunodeficiency Chilblains Serositis Progressive spastic paraplegia Pericardial effusion Increased antibody level in blood Toe walking Spastic tetraparesis Progressive microcephaly Lower limb spasticity Progressive neurologic deterioration Autism Jaundice Focal segmental glomerulosclerosis Clonus Pancreatitis Macular degeneration Purpura Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Truncal ataxia Cardiac arrest Cerebral visual impairment Reduced tendon reflexes Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Anorexia Left ventricular hypertrophy Decreased body weight Involuntary movements Hypertrichosis Hemiparesis Atrial fibrillation External ophthalmoplegia Ischemic stroke Status epilepticus Hemiplegia Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Bilateral ptosis Hypopigmented skin patches Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Psychosis Pulmonary arterial hypertension Photophobia Dilated cardiomyopathy Dysmetria Delayed puberty Malabsorption Nausea and vomiting Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Pruritus Neurological speech impairment Confusion Stroke Nyctalopia Abnormality of the liver Protruding ear Feeding difficulties in infancy Mental deterioration Apnea Proteinuria Anxiety Myalgia EEG abnormality Paresthesia Vertigo Type II diabetes mellitus Migraine Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Memory impairment Increased serum lactate Sudden cardiac death Peripheral axonal neuropathy Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Postural instability Coma Polyneuropathy Nephropathy Hirsutism Polymicrogyria Nausea Lactic acidosis Abnormality of the nasal bridge



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