Cardiomyopathy, and Inguinal hernia

Diseases related with Cardiomyopathy and Inguinal hernia

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


Top matches:

Medium match PENOSCROTAL TRANSPOSITION


Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

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Other less relevant matches:

Medium match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Medium match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Medium match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Medium match MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2


Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Medium match MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6


Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Medium match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Medium match MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7


Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Inguinal hernia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Umbilical hernia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Inguinal hernia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hernia

Uncommon Symptoms - Between 30% and 50% cases


Hypertrophic cardiomyopathy Global developmental delay Hearing impairment Splenomegaly Macrocephaly Coarse facial features Seizures Hepatosplenomegaly Corneal opacity Macroglossia Muscular hypotonia Scoliosis Kyphosis Congestive heart failure Dysostosis multiplex Cryptorchidism Pectus carinatum Failure to thrive Hypertelorism Epicanthus Abnormal heart valve morphology Abnormal facial shape Dermatan sulfate excretion in urine Hip dysplasia Waddling gait Neurodegeneration Motor delay Osteopenia Talipes equinovarus Sleep apnea Thoracic kyphosis Dyspnea Cataract Hydrocephalus Tetraplegia Short stature Spastic tetraplegia

Rare Symptoms - Less than 30% cases


Myopia Disproportionate tall stature Skeletal muscle atrophy Retinal fold Ascites Muscle weakness Sensorineural hearing impairment Myelopathy Heparan sulfate excretion in urine Abnormality of the nervous system Cervical cord compression Tremor Kyphoscoliosis Hypertension Cardiac arrest Prominent sternum Hypoplasia of the odontoid process Long face Recurrent upper respiratory tract infections Accelerated skeletal maturation Opacification of the corneal stroma Respiratory failure Dilatation Short nose Respiratory distress Mandibular prognathia Skeletal dysplasia Polyhydramnios Lumbar hyperlordosis Hirsutism Poor speech Genu valgum Hypothyroidism Ataxia Visual impairment Hyperextensible skin Edema Abnormality of the skeletal system Cardiomegaly Obstructive sleep apnea Redundant skin Cutis laxa Dolichocephaly Progressive neurologic deterioration Hypertrichosis Tetraparesis Arrhythmia Intellectual disability, moderate Wide mouth Premature birth Prominent occiput Retinopathy Microcephaly Apnea Severe short stature Short neck Cognitive impairment Micropenis Cerebral cortical atrophy Clinodactyly of the 5th finger Hypospadias Obesity Split hand Pseudohypoparathyroidism Strabismus Hyperactive deep tendon reflexes Widely spaced teeth Low-set ears Neoplasm Blepharophimosis Ventriculomegaly Mild short stature Retrognathia Spastic tetraparesis Macrotia Broad ribs Hydrops fetalis Wide nasal bridge Sloping forehead Ovoid vertebral bodies Hypoplastic iliac wing Thickened skin Corneal dystrophy Ptosis Rod-cone dystrophy Aortic valve stenosis Pes cavus Metaphyseal irregularity Diarrhea Incoordination Intestinal pseudo-obstruction Aseptic necrosis Spinal canal stenosis Metaphyseal widening Epiphyseal dysplasia Abnormality of the cerebral white matter Attention deficit hyperactivity disorder Urinary glycosaminoglycan excretion Elbow flexion contracture Hoarse voice Tracheobronchomalacia Retinoschisis Abnormality of retinal pigmentation Exercise intolerance Recurrent otitis media Depressed nasal bridge Intellectual disability, progressive Thick lower lip vermilion Decreased body weight Intellectual disability, profound Papilledema Intellectual disability, severe Aortic regurgitation Glaucoma Pigmentary retinopathy Joint stiffness Asthma Postural instability Delayed eruption of teeth Scaphocephaly Neurological speech impairment Disproportionate short-trunk short stature Abnormality of the shape of the midface Respiratory tract infection Postnatal growth retardation Hyperlordosis Muscular hypotonia of the trunk Recurrent infections Intellectual disability, mild Hypertonia Spasticity Subchorionic septal cyst Large intestinal polyposis Adrenocortical cytomegaly Facial asymmetry Abnormality of pancreas morphology Congenital megaureter Large placenta Posterior helix pit Branchial cyst Infra-orbital crease Adrenocortical carcinoma Facial hemangioma Urogenital fistula Leiomyosarcoma Platyspondyly Vertigo Hepatoblastoma Pulmonary insufficiency Proximal tapering of metacarpals Decreased pulmonary function Anterior beaking of lumbar vertebrae Pseudoarthrosis Snoring Narrow greater sacrosciatic notches J-shaped sella turcica Thoracic kyphoscoliosis Acetabular dysplasia Thoracolumbar kyphosis Recurrent ear infections Thick eyebrow Nonimmune hydrops fetalis Thoracolumbar scoliosis Spinal cord compression Metatarsus adductus Spondyloepiphyseal dysplasia Pleural effusion Pterygium Gingival overgrowth Broad-based gait Webbed neck Elevated alpha-fetoprotein Anterior creases of earlobe Flared iliac wings Proptosis Nephrolithiasis Large fontanelles Omphalocele Congenital diaphragmatic hernia Prominent nose Vesicoureteral reflux Nephropathy Gastroparesis Feeding difficulties in infancy Hypoglycemia Autism Wide anterior fontanel Hyperactivity Midface retrusion Abnormality of cardiovascular system morphology Cleft palate Anterior wedging of L2 Anterior wedging of L1 Hypoplastic acetabulae Cervical instability Cervical myelopathy Constrictive median neuropathy Tall stature Arnold-Chiari malformation Choroideremia Nevus flammeus Asymmetric growth Abnormality of earlobe Otosclerosis Rhabdomyosarcoma Ureteral duplication Visceromegaly Gonadoblastoma Hemihypertrophy Diastasis recti Multiple renal cysts Neonatal hypoglycemia Relative macrocephaly Enlarged kidney Exocrine pancreatic insufficiency Prominent metopic ridge Polycythemia Neuroblastoma Neurodevelopmental delay Large for gestational age Melanocytic nevus Nephroblastoma Hypercalciuria Abnormal pulmonary valve morphology Vacuolated lymphocytes Hyperalaninemia Cavum septum pellucidum Pes planus Hyperkeratosis Elevated serum creatine phosphokinase Patent ductus arteriosus Myopathy Gait disturbance Narrow naris Wide nasal base Entropion Muscular dystrophy Bundle branch block Right bundle branch block Mask-like facies Focal impaired awareness seizure Narrow palpebral fissure Pointed chin Convex nasal ridge Focal-onset seizure Gliosis Scarring Abnormality of the foot Triangular face Difficulty climbing stairs Arterial rupture High-frequency sensorineural hearing impairment Keloids Bladder diverticulum Cleft soft palate Follicular hyperkeratosis Soft skin Atrophic scars Congenital muscular dystrophy Joint hypermobility Increased susceptibility to fractures Poor suck Easy fatigability Poor head control Severe muscular hypotonia Blue sclerae Hypotelorism Microcornea Bruising susceptibility Sepsis Polymicrogyria Aortic rupture Bifid scrotum Elevated circulating follicle stimulating hormone level Labial hypoplasia Sparse pubic hair Sparse axillary hair Male pseudohermaphroditism Shawl scrotum Abnormality of the ureter Diabetes insipidus Growth abnormality Menstrual irregularities Bilateral single transverse palmar creases Gynecomastia Renal dysplasia Abnormality of the genital system Primary amenorrhea Ambiguous genitalia Renal agenesis Wide intermamillary distance Micrognathia Patellar aplasia Aplasia of the uterus Bulbous nose Incomplete male pseudohermaphroditism Protruding ear Camptodactyly Pneumonia Atrial septal defect Hypoplasia of the corpus callosum Ventricular septal defect Downslanted palpebral fissures Delayed speech and language development Scrotal hypospadias Penoscrotal transposition Elevated circulating luteinizing hormone level Blind vagina Absent facial hair Female external genitalia in individual with 46,XY karyotype Abnormal external genitalia Penoscrotal hypospadias Abnormality of the urethra Nephrogenic diabetes insipidus Dimple chin Perineal hypospadias Abnormal eye morphology Fatigue 3-Methylglutaconic aciduria Cherry red spot of the macula Cerebellar atrophy Respiratory insufficiency Anteverted nares Intrauterine growth retardation Growth delay Urinary excretion of sialylated oligosaccharides Increased urinary O-linked sialopeptides Bone-marrow foam cells Facial edema Encephalopathy Foam cells Barrel-shaped chest Hand tremor Syringomyelia Epiphyseal stippling Slurred speech Laryngomalacia Choreoathetosis Progressive visual loss Long philtrum Acidosis Falls Pulmonary arterial hypertension Moderate global developmental delay Abnormal aortic valve morphology Flat occiput Encephalitis Hyperammonemia Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Microretrognathia Intention tremor Interphalangeal joint contracture of finger Neonatal hypotonia Oligohydramnios Aciduria Increased serum lactate Flat face Lactic acidosis Small for gestational age Short philtrum Camptodactyly of finger Abnormality of the kidney Progressive cerebellar ataxia Dysmetria Malar flattening Coxa valga Aortic root aneurysm Prematurely aged appearance Keratoconus Telangiectasia of the skin Rocker bottom foot Aortic aneurysm Pyloric stenosis Coxa vara Thin skin Hiatus hernia Myocardial infarction Short palpebral fissure Specific learning disability Arachnodactyly Joint hyperflexibility Dilated cardiomyopathy Hip dislocation Craniosynostosis Gastroesophageal reflux Pulmonary artery stenosis Cardiorespiratory arrest Abnormality of movement Abnormality of the zygomatic bone Mental deterioration Proteinuria Myoclonus Dementia Visual loss Blindness Hyperreflexia Peripheral neuropathy Nystagmus Abnormal carotid artery morphology Aortic dissection Keratoglobus Long palm Median cleft lip and palate Femoral hernia Arterial stenosis Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Myocarditis Esophagitis Anterior beaking of lower thoracic vertebrae



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