Cardiomyopathy, and Skin rash

Diseases related with Cardiomyopathy and Skin rash

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


Top matches:

Low match MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2


MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM ), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018).For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2

Low match AMYLOIDOSIS, FAMILIAL VISCERAL


AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis|amyloidosis, systemic nonneuropathic|amyloidosis viii|amyloidosis, familial renal|ostertag type amyloidosis

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYLOIDOSIS, FAMILIAL VISCERAL

Low match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

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Other less relevant matches:

Low match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Low match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Low match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Low match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Skin rash

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Skin rash. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Papule Short stature Hypertension Microcephaly Mitral regurgitation Restrictive cardiomyopathy Sensorineural hearing impairment Abnormality of the nose Myocardial infarction Mitral valve prolapse Subcutaneous nodule Failure to thrive Chronic obstructive pulmonary disease Corneal opacity Dyspnea Micrognathia Cataract Tricuspid regurgitation Hypertrophic cardiomyopathy Anemia Visual impairment Telangiectasia of the skin Erythema Angina pectoris Arrhythmia Global developmental delay Pain Stroke Cafe-au-lait spot Purpura Intrauterine growth retardation Abnormal facial shape Peripheral neuropathy Edema Abdominal pain Pruritus Proteinuria Paresthesia Nephropathy Hematuria Diarrhea Visual loss

Rare Symptoms - Less than 30% cases


Coronary artery atherosclerosis Abnormal mitral valve morphology Peripheral arterial stenosis Dilatation Abnormal endocardium morphology Gastrointestinal hemorrhage Abnormality of cardiovascular system morphology Hypothyroidism Scarring Retinopathy Abnormality of the skin Ischemic stroke Abnormality of skin pigmentation Abnormality of the cardiovascular system Sudden cardiac death Hypopigmented skin patches Hyperkeratotic papule Myalgia Hyperkeratosis Supraventricular tachycardia Tachycardia Nail dystrophy Midface retrusion Wheezing Glomerulopathy Diabetes insipidus Hemiplegia Chest pain Nausea and vomiting Cough Arthritis Arthralgia Syndactyly Headache Respiratory distress Respiratory insufficiency Fatigue Pulmonary fibrosis Blindness Sacral dimple Sinusitis Specific learning disability Otitis media Hyperhidrosis Severe short stature Recurrent respiratory infections Congestive heart failure Elevated erythrocyte sedimentation rate Dilated cardiomyopathy Micropenis Drusen Glaucoma Nephrotic syndrome Intellectual disability Cerebral calcification Hepatosplenomegaly Recurrent infections Status epilepticus Weight loss Neoplasm High palate Petechiae Splenomegaly Microphthalmia Hepatomegaly Prominent nasal bridge Vomiting Behavioral abnormality Nausea Stage 5 chronic kidney disease Vertigo Delayed puberty Malabsorption Abnormality of the cerebral white matter Posteriorly rotated ears Carcinoma Developmental regression Frontal bossing Abnormality of the kidney Constipation Abnormality of the nervous system Mandibular prognathia Anxiety Coarse facial features Depressivity Thick vermilion border Bulbous nose Bradycardia Reduced bone mineral density Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Hyperlipidemia Aminoaciduria Exercise intolerance Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Lymphedema Thick eyebrow Hypohidrosis Anorexia Left ventricular hypertrophy Abnormal lung morphology Palpitations Atrial fibrillation Thick lower lip vermilion Ventricular hypertrophy Hypotension Urinary incontinence Syncope Abdominal distention Muscle cramps Optic atrophy Cleft earlobe Cognitive impairment Albinism Abnormal eyelash morphology Posterior embryotoxon Anencephaly Aplasia cutis congenita Anteriorly placed anus Absent septum pellucidum Aplasia/Hypoplasia of the skin Abnormality of the ear Congenital glaucoma Hypoplasia of the uterus Dysphasia Aphasia Preauricular pit Sclerocornea Ventricular fibrillation Anophthalmia Clitoral hypertrophy Patent foramen ovale Dermal atrophy Mutism Intellectual disability, progressive Abnormality of dental enamel Abnormality of the nail Hyperpigmentation of the skin Abnormality of retinal pigmentation Amblyopia Male pseudohermaphroditism Ocular albinism Anal fistula Abnormality of the penis Asymmetric, linear skin defects Tinnitus Abnormality of the rectum Vitritis Histiocytoid cardiomyopathy Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Mandibular aplasia Abnormal eyelid morphology Overriding aorta Abnormality of the anus Tricuspid valve prolapse Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Periventricular leukomalacia Colpocephaly Abnormality of the testis Echolalia Retinal dysplasia Ventricular arrhythmia Prominent supraorbital ridges Easy fatigability Reduced sperm motility Unexplained fevers Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Impaired temperature sensation Obstructive lung disease Angiokeratoma Increased blood urea nitrogen Functional abnormality of the gastrointestinal tract Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Biventricular hypertrophy ST segment depression Impaired renal concentrating ability Microalbuminuria Erythroderma Skin vesicle Abnormal blistering of the skin Muscular dystrophy Otitis externa Paronychia Recurrent infection of the gastrointestinal tract Thick nail Villous atrophy Myocarditis Hematochezia Blepharitis Pustule Eosinophilia Abnormality of glycosphingolipid metabolism Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Abnormality of the forehead Primary hypothyroidism Conjunctival telangiectasia Atrioventricular block Impotence Transient ischemic attack Xerostomia Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Renal tubular acidosis Glycosuria Abnormal heart valve morphology Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Bundle branch block Edema of the lower limbs Loss of consciousness Emphysema Anhidrosis Polyuria Impaired vibratory sensation Clubbing Heart murmur Personality changes Polydipsia Glomerulosclerosis Abnormality of the hand Ambiguous genitalia Chronic kidney disease Renal tubular dysfunction Tubulointerstitial nephritis Supraventricular arrhythmia Asymmetric septal hypertrophy Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness High-frequency hearing impairment Elevated serum creatinine Abnormal myocardium morphology Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Clubbing of fingers Reduced ejection fraction Heat intolerance Large earlobe Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Congenital diaphragmatic hernia Increased CSF protein Pigmentary retinopathy Vascular calcification Premature occlusive vascular stenosis Erythematous papule Subretinal fluid Peau d'orange Peripapillary chorioretinal atrophy Medial calcification of large arteries Generalized arterial calcification Localized skin lesion Thrombocytopenia Arterial calcification Subcutaneous calcification Accelerated atherosclerosis Abnormal atrioventricular valve morphology Civatte bodies Abnormality of connective tissue Renovascular hypertension Metamorphopsia Angioid streaks of the fundus Intermittent claudication Retinal hemorrhage Cerebellar hypoplasia Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Excessive wrinkled skin Medial calcification of medium-sized arteries Medial calcification of small arteries Arterial stenosis Polydactyly Hyperreflexia Prominent nose Decreased antibody level in blood Lymphoma Ichthyosis Infertility Dolichocephaly Leukemia Finger syndactyly Ventriculomegaly Protruding ear Postnatal growth retardation Diabetes mellitus Cryptorchidism Anteverted nares Intellectual disability, severe Hypertonia Pneumonia Clinodactyly of the 5th finger Delayed skeletal maturation Immunodeficiency Long philtrum Malar flattening Short nose Intellectual disability, mild Abnormality of the dentition Arteriosclerosis Pulmonary edema Cutaneous photosensitivity Joint hyperflexibility Congenital cataract Abnormality of movement Polymicrogyria Blue sclerae Tetraplegia Gliosis Neuronal loss in central nervous system Sloping forehead Postural instability Bruising susceptibility Intellectual disability, profound Tetraparesis Macular degeneration Small for gestational age Pachygyria Postnatal microcephaly Decreased liver function Cerebral visual impairment Reduced visual acuity Opacification of the corneal stroma Microretrognathia Spastic tetraparesis Lissencephaly Myopia Scoliosis Nephrocalcinosis Atherosclerosis Cerebral cortical atrophy Multiple lipomas Abnormal thrombocyte morphology Redundant neck skin Lack of skin elasticity Jaundice Abnormality of the cerebral vasculature Mitral stenosis Thickened nuchal skin fold Abnormality of the mouth Severe intrauterine growth retardation Severe vision loss Striae distensae Elevated hepatic transaminase Chorioretinal atrophy Cutis laxa Abnormal retinal morphology Hypermelanotic macule Muscular hypotonia of the trunk Cutis marmorata Hemiplegia/hemiparesis Abnormality of the liver Acne Abnormality of the thorax Intracranial hemorrhage Redundant skin Hyperextensible skin Generalized tonic-clonic seizures Type II diabetes mellitus Hypertrichosis Hypopigmentation of the skin Nasal obstruction Ureteral stenosis Endocarditis Neuritis Granulomatosis Pleuritis Subglottic stenosis Ocular pain Rhinorrhea Periorbital edema Elevated C-reactive protein level Inflammatory abnormality of the eye Recurrent corneal erosions Episcleritis Abnormality of the hypothalamus-pituitary axis Cerebral ischemia Concave nasal ridge Tracheal stenosis Myositis Gangrene Pulmonary infiltrates Hemoptysis Malar rash Pericarditis Restrictive ventilatory defect Intestinal obstruction Abnormal oral cavity morphology Arteritis Chronic otitis media Agenesis of corpus callosum Retinal dystrophy Iris coloboma Wide nose Gastroesophageal reflux Anal atresia Congenital microcephaly Abnormal cardiac septum morphology Coloboma Blepharophimosis Retrognathia Respiratory failure Hypogonadism Abnormal heart morphology Increased inflammatory response Hypospadias Hernia Abnormality of metabolism/homeostasis Reduced subcutaneous adipose tissue Atrial septal defect Hydrocephalus Ventricular septal defect Wide nasal bridge Feeding difficulties Prostatitis Recurrent intrapulmonary hemorrhage Scleritis Stridor Pleural effusion Abnormality of the face Acute myeloid leukemia Decreased fertility in females Abnormality of chromosome stability IgM deficiency Generalized hypotonia Chronic lung disease Hypoplastic pelvis Chromosome breakage Hypoplasia of the zygomatic bone Acute leukemia IgG deficiency Hodgkin lymphoma IgA deficiency Myeloid leukemia Spotty hypopigmentation Hypertelorism High pitched voice Squamous cell carcinoma Hand polydactyly Reduced number of teeth Nystagmus Spasticity Azoospermia Narrow face Low-set ears Telangiectasia Bronchiectasis Female infertility Spotty hyperpigmentation Glomerulonephritis Autoimmunity Venous thrombosis Cranial nerve paralysis Pancreatitis Conjunctivitis Vasculitis Meningitis Hoarse voice Skin ulcer Diplopia Epistaxis Sensory neuropathy Polyneuropathy Paralysis Neoplasm of the gastrointestinal tract Hydronephrosis Cholestasis Urticaria Amyloidosis Proptosis Optic neuropathy Papilledema Albuminuria Renal amyloidosis Generalized amyloid deposition Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Plantar hyperkeratosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Camptodactyly of finger, related diseases and genetic alterations Macrocephaly and Gliosis, related diseases and genetic alterations Hydrocephalus and Myopia, related diseases and genetic alterations Ptosis and Talipes, related diseases and genetic alterations

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