Cardiomyopathy, and Thin vermilion border

Diseases related with Cardiomyopathy and Thin vermilion border

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


Top matches:

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Medium match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

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Other less relevant matches:

Medium match KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME


Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium match ALG1-CDG


ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Medium match 8P23.1 MICRODELETION SYNDROME


8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

8P23.1 MICRODELETION SYNDROME Is also known as del(8)(p23.1)|monosomy 8p23.1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MESH MENDELIAN

More info about 8P23.1 MICRODELETION SYNDROME

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE


Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Medium match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Thin vermilion border

Symptoms // Phenotype % cases
Thin upper lip vermilion Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Thin vermilion border. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Low-set ears Abnormal facial shape Generalized hypotonia Seizures Microcephaly Intrauterine growth retardation Intellectual disability Myopathy Intellectual disability, mild Depressed nasal bridge Bulbous nose Short neck Immunodeficiency High palate Hypertelorism Muscle weakness Long philtrum Muscular hypotonia Cleft palate Cryptorchidism Patent ductus arteriosus Wide nasal bridge Joint laxity Elevated serum creatine phosphokinase Motor delay Hypoglycemia Deeply set eye Hearing impairment Hepatomegaly Ventricular hypertrophy Cardiomegaly Full cheeks Broad nasal tip Obesity

Rare Symptoms - Less than 30% cases


Abnormal heart morphology Brachydactyly Abnormality of the dentition Ptosis Hypothyroidism Hepatic failure Flexion contracture Clinodactyly Sinusitis Ventricular arrhythmia Scoliosis Feeding difficulties Microdontia Hepatosplenomegaly Ventricular septal defect Dilated cardiomyopathy Ventricular tachycardia 2-3 toe syndactyly Cardiac arrest Hypoplasia of dental enamel Prolonged QT interval Syncope Sudden cardiac death Hypoplasia of the maxilla Torsade de pointes Toe syndactyly Arrhythmia Retrognathia Depressivity Syndactyly Cognitive impairment Epicanthus Behavioral abnormality Abnormality of cardiovascular system morphology Abnormal cardiac septum morphology Protruding tongue Anteverted nares Tetralogy of Fallot Delayed myelination Malar flattening Hypertension Failure to thrive Hypertriglyceridemia Pain Atrial septal defect Congestive heart failure Pectus excavatum Posteriorly rotated ears Upslanted palpebral fissure Hyperlipidemia Small hand Hepatic fibrosis Left ventricular hypertrophy High, narrow palate Distal amyotrophy Elevated hepatic transaminase Midface retrusion Broad forehead Poor speech Weight loss Strabismus Broad thumb Downslanted palpebral fissures Short nose Bronchitis Hypospadias Congenital diaphragmatic hernia High forehead Tapered finger Pes planus Cutaneous finger syndactyly Attention deficit hyperactivity disorder Prominent frontal sinuses Amelogenesis imperfecta Wide intermamillary distance Prominent nasal bridge Aplasia/Hypoplasia of the maxilla Constipation Bidirectional ventricular ectopy Periodic paralysis Short metatarsal Myotonia Atrioventricular dissociation T-wave alternans Right bundle branch block Short finger Ventricular extrasystoles Left bundle branch block T-wave inversion Abnormality of dental color Abnormal atrioventricular conduction Abnormal T-wave Frontal balding Antegonial notching of mandible Delayed eruption of permanent teeth Biventricular hypertrophy Cutaneous syndactyly of toes Perimembranous ventricular septal defect Hypothermia First degree atrioventricular block Clinodactyly of the 5th toe Short digit Short mandibular rami Periodic hypokalemic paresis Proximal placement of thumb Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Transposition of the great arteries Hypoplastic left heart Prominent occiput Round face Coma Joint hypermobility Carious teeth Hip dislocation Autistic behavior Gastroesophageal reflux Macular degeneration Torticollis Widely spaced teeth Abnormality of the outer ear Scrotal hypoplasia Heart murmur Congenital hypothyroidism Pulmonary arterial hypertension Autism Hypoplasia of teeth Patellar hypoplasia Epicanthus inversus Abnormal palmar dermatoglyphics Prominent forehead Neonatal asphyxia Multiple bladder diverticula Myopia Dysphagia Recurrent infections Encephalopathy Pneumonia Esotropia Abnormality of the face Atrioventricular canal defect Talipes equinovarus Biparietal narrowing Mixed hearing impairment External ear malformation Pulmonary artery stenosis Broad hallux phalanx Abnormal aortic morphology Enlarged thorax Multiple joint contractures Ventricular fibrillation Obsessive-compulsive behavior Patent foramen ovale Delayed speech and language development Atrioventricular block Intellectual disability, severe Amblyopia Optic nerve hypoplasia Microphthalmia Cutaneous syndactyly Narrow mouth Abnormality of dental enamel Proteinuria Postnatal growth retardation Blepharophimosis Microtia Talipes Hypocalcemia Recurrent otitis media Bradycardia Growth abnormality Cerebral atrophy Oligodontia Decreased liver function Bacterial endocarditis Quadricuspid aortic valve Reversed usual vertebral column curves Skeletal muscle atrophy Proximal muscle weakness Myalgia Carcinoma Abnormality of the liver Scarring Cirrhosis Otitis media Epistaxis Progressive muscle weakness Progressive hearing impairment Asthenia Recurrent sinusitis Ketosis Recurrent corneal erosions Skeletal myopathy Micronodular cirrhosis Periportal fibrosis Ketotic hypoglycemia Falls Everted lower lip vermilion Webbed neck Underdeveloped nasal alae Low posterior hairline Frequent falls Mastoiditis Tricuspid valve prolapse Mild short stature Tachycardia Peripheral axonal neuropathy Lactic acidosis Exercise intolerance Neurodevelopmental delay Abnormality of lipid metabolism Increased muscle fatiguability Sinus tachycardia Increased hepatic glycogen content Dyspnea Intellectual disability, moderate Short philtrum Pulmonic stenosis Long face Chest pain Endocarditis Convex nasal ridge Limb undergrowth Abnormality of the cardiovascular system Mitral valve prolapse Atrial fibrillation Mitral regurgitation Dental crowding Aortic regurgitation Disproportionate tall stature Abnormal heart valve morphology Striae distensae Thromboembolism Supraventricular tachycardia Bilateral ptosis Centrally nucleated skeletal muscle fibers Reduced tendon reflexes Budd-Chiari syndrome Hypogonadism Cerebral cortical atrophy Jaundice Nephropathy Ascites Nephrotic syndrome Large fontanelles Portal hypertension Abnormality of coagulation Abnormality of immune system physiology Nonimmune hydrops fetalis Type I transferrin isoform profile Abnormality of the amniotic fluid Clinodactyly of the 5th finger Splenomegaly Dolichocephaly Limb muscle weakness Short palm Wide nose Triangular face Short metacarpal Febrile seizures Specific learning disability Palpitations Short phalanx of finger Bilateral single transverse palmar creases Scapular winging Abnormal palate morphology Areflexia Cerebellar atrophy Thoracolumbar scoliosis Wide mouth Nemaline bodies Fused cervical vertebrae Acetabular dysplasia Cervical C2/C3 vertebral fusion Limitation of neck motion Sensorineural hearing impairment Hypoplasia of the corpus callosum Hydrocephalus Hypertonia Absent speech Hernia Coarse facial features Umbilical hernia Severe global developmental delay Blindness Macroglossia Bifid uvula Dandy-Walker malformation Small nail Short chin Lissencephaly Failure to thrive in infancy Cutis marmorata Severe failure to thrive Periorbital fullness Skull asymmetry Respiratory insufficiency Edema Abnormal direction of ventricular apex



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Single transverse palmar crease, related diseases and genetic alterations Optic atrophy and Tall stature, related diseases and genetic alterations Hydrocephalus and Dysphagia, related diseases and genetic alterations Cardiomyopathy and Macroglossia, related diseases and genetic alterations

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