Cardiomyopathy, and Atopic dermatitis

Diseases related with Cardiomyopathy and Atopic dermatitis

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


Top matches:

Medium 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

Medium 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

Medium 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 EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND


Related symptoms:

  • Cardiomyopathy
  • Hyperkeratosis
  • Scarring
  • Muscular dystrophy
  • Papule


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND

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 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG


Related symptoms:

  • Flexion contracture
  • Ventricular septal defect
  • Atrial septal defect
  • Camptodactyly
  • Arthrogryposis multiplex congenita


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG

Low match IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH


IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Atrial septal defect Cough Growth delay Failure to thrive Short stature Ventriculomegaly Hypertelorism Seizures Short neck Pruritus Hearing impairment Ventricular septal defect Ichthyosis Gastroesophageal reflux Hypertrophic cardiomyopathy Delayed speech and language development Feeding difficulties Pulmonic stenosis Ptosis Delayed skeletal maturation Vomiting

Rare Symptoms - Less than 30% cases


Decreased body weight Hypertonia Feeding difficulties in infancy Abnormality of the testis Cerebral visual impairment Abnormality of refraction Arnold-Chiari type I malformation Neurological speech impairment Erythema Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hemiparesis EEG abnormality Failure to thrive in infancy Deep philtrum Relative macrocephaly Depressivity Optic nerve hypoplasia Arthrogryposis multiplex congenita Cerebral atrophy Slow-growing hair Overlapping toe Thickened helices Hepatomegaly Abnormality of the dentition Congestive heart failure Abnormal heart morphology Blindness Dysphagia Bilateral ptosis Tremor Optic atrophy Constipation Dysarthria Scarring Abnormality of the pulmonary artery Cataract Muscular hypotonia Cerebral cortical atrophy Abnormal palate morphology Ataxia Nail dystrophy Encephalopathy Autism Kyphosis Abnormal location of ears Abnormality of the cerebral white matter Nystagmus Hyperkeratosis Pectus excavatum Peripheral axonal neuropathy Carious teeth Hypotrichosis Dolichocephaly Pectus carinatum Attention deficit hyperactivity disorder Sparse hair Anteverted nares Hydrocephalus Low-set, posteriorly rotated ears Downslanted palpebral fissures Hoarse voice Umbilical hernia Short nose High forehead Macrotia Hypothyroidism Abnormality of cardiovascular system morphology Prominent forehead Posteriorly rotated ears Joint hypermobility Macrocephaly Full cheeks Low-set ears Low posterior hairline Strabismus Ventricular hypertrophy Coarctation of aorta Cryptorchidism Scoliosis Abnormality of the cardiovascular system Cafe-au-lait spot Micrognathia High palate Epicanthus Growth hormone deficiency Webbed neck High, narrow palate Generalized hypotonia Hyperpigmentation of the skin Telecanthus Abnormality of the eye Coarse facial features Aggressive behavior Myocardial infarction Proptosis Polyhydramnios Osteopenia Abnormality of the kidney Hydronephrosis Abdominal distention Progressive visual loss Irritability Premature birth Sleep disturbance Hepatic steatosis Abnormal bleeding Thick vermilion border Retinal dystrophy Nevus Bruising susceptibility Vesicoureteral reflux Intestinal malrotation Bulbous nose Falls Long face Respiratory tract infection Abnormality of skin pigmentation Dry skin Astigmatism Genu valgum Hypermetropia Dental malocclusion Narrow forehead Leukemia Cardiomegaly Abnormal cardiac septum morphology Fine hair Palmoplantar keratoderma Paralytic ileus Hyperhidrosis Persistence of primary teeth Hemeralopia Crohn's disease 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 Writer's cramp Spotty hypopigmentation Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Abnormal macular morphology Paronychia Alopecia Neoplasm Clinodactyly of the 5th finger Inguinal hernia Hernia Thrombocytopenia Malar flattening Long philtrum Splenomegaly Behavioral abnormality Intellectual disability, severe Edema Frontal bossing Myopia Depressed nasal bridge Prominent ear helix Abnormal mitochondrial morphology Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Thickened skin Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Open mouth Anal stenosis Lymphedema Frontal balding Hyperkeratosis pilaris 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 Endocarditis Puberty and gonadal disorders Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of the hairline Morphological abnormality of the gastrointestinal tract Delayed CNS myelination Joint contracture of the hand Recurrent skin infections Bicuspid aortic valve Leukoencephalopathy Absence seizures Decreased antibody level in blood Recurrent infections Immunodeficiency Intellectual disability, mild Decreased hip abduction Aseptic necrosis Multiple joint contractures Pyloric stenosis Camptodactyly Cutaneous T-cell lymphoma Flexion contracture Plantar hyperkeratosis Skin vesicle Abnormal blistering of the skin Papule Muscular dystrophy Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Abnormal myocardium morphology Abnormality of the optic nerve Aspiration Hyperextensible skin Obsessive-compulsive behavior Heart murmur Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Scaling skin Sparse eyebrow Brittle hair Redundant skin Poor suck Large for gestational age Abnormality of vision Palmoplantar hyperkeratosis Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Cutis laxa Oculomotor apraxia Sparse eyelashes Narrow palate Abnormality of the nail Absent eyebrow Open bite Dystrophic fingernails Poor appetite 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 Abnormal eyelash morphology Alopecia of scalp Underdeveloped supraorbital ridges Malnutrition Stroke-like episode 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 Hydroureter Seborrheic dermatitis Ophthalmoparesis Anterior hypopituitarism Areflexia Gait ataxia Abdominal pain Diabetes mellitus Hypogonadism Osteoporosis Myoclonus Dementia Rod-cone dystrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Hyporeflexia Arrhythmia Acidosis Visual loss Headache Renal insufficiency Dystonia Diarrhea Cerebellar atrophy Myopathy Respiratory distress Respiratory insufficiency Fatigue Gait disturbance Skeletal muscle atrophy Weight loss Jaundice Hyperreflexia Lethargy Lactic acidosis Vertigo Confusion Paresthesia Dysmetria Anal atresia Delayed puberty Malabsorption Nausea and vomiting Congenital cataract Ophthalmoplegia Generalized tonic-clonic seizures Photophobia Dilated cardiomyopathy Stroke Nyctalopia Abnormality of the liver Protruding ear Abnormality of the pinna Developmental regression Mental deterioration Apnea Proteinuria Anxiety Myalgia Fever Peripheral neuropathy Polymicrogyria Thick lower lip vermilion Patent foramen ovale Nasal speech Coarse hair Increased intracranial pressure Arnold-Chiari malformation Infantile muscular hypotonia Abnormality of the fingernails Hypocalcemia Thin skin Mitral regurgitation Sparse scalp hair Eczema Hypoplastic toenails Cyanosis Dandy-Walker malformation Wide intermamillary distance Thin vermilion border Craniosynostosis Postnatal growth retardation Hypoglycemia Retrognathia Hyperactivity Patent ductus arteriosus Brachydactyly Abnormal facial shape Overfolded helix Right bundle branch block Hypertension Superior pectus carinatum Motor delay Visual impairment Anemia Cognitive impairment Pain Muscle weakness Sensorineural hearing impairment Microcephaly Abnormality of the nasal bridge Broad fingertip Loose anagen hair Abnormality of the intervertebral disk Abnormality of coagulation Dermal translucency Peripheral pulmonary artery stenosis Redundant neck skin Enlarged cisterna magna Abnormally large globe Hypomagnesemia Fragile nails Hiatus hernia Abnormality of the elbow Broad neck Natal tooth Freckling Nausea Hirsutism Gait imbalance Aphasia Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Bundle branch block Thyroiditis Adrenal insufficiency Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Rhabdomyolysis Abnormality of immune system physiology Hypercalciuria Transient ischemic attack Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Posterior subcapsular cataract Primary adrenal insufficiency Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Distal arthrogryposis Pulmonary embolism Hemiplegia Decreased nerve conduction velocity Nephropathy Amenorrhea Hypertrichosis Atrial fibrillation Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Pigmentary retinopathy Cerebral calcification Specific learning disability Left ventricular hypertrophy Hip dysplasia Memory impairment Increased serum lactate Migraine Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Postural instability Coma Polyneuropathy Involuntary movements Anorexia Cachexia External ophthalmoplegia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes Pancreatitis Gingival overgrowth Macular degeneration Purpura Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Truncal ataxia Cardiac arrest Clonus Hallucinations Abnormality of retinal pigmentation IgA deficiency



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