Cardiomyopathy, and Umbilical hernia

Diseases related with Cardiomyopathy and Umbilical hernia

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


Top matches:

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

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

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C


Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

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 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

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

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Coarse facial features Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertrophic cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases


Hypertrichosis Inguinal hernia Global developmental delay Seizures Accelerated skeletal maturation Hearing impairment Hirsutism Flexion contracture Hepatosplenomegaly Macroglossia Wide mouth Macrocephaly Hypertension Generalized hypotonia Wide nasal bridge Long philtrum Hydrocephalus Cognitive impairment Anteverted nares Abnormal heart valve morphology Cryptorchidism Abnormal facial shape Sleep apnea Dolichocephaly Depressed nasal bridge Osteopenia Dysostosis multiplex Patent ductus arteriosus Intellectual disability, mild Mandibular prognathia Short neck Congestive heart failure Tall stature Nephrolithiasis

Rare Symptoms - Less than 30% cases


Retinopathy Corneal opacity Intrauterine growth retardation Abnormality of the skeletal system Spastic tetraplegia Tetraplegia Microcephaly Apnea Cleft palate Failure to thrive Growth delay Ventricular hypertrophy Tetraparesis Hyperactivity Hypothyroidism Heparan sulfate excretion in urine Dermatan sulfate excretion in urine Cervical cord compression Recurrent upper respiratory tract infections Retinal fold Myelopathy Obstructive sleep apnea Joint stiffness Rod-cone dystrophy Progressive neurologic deterioration Diarrhea Low-set ears Hypertelorism Spastic tetraparesis Premature birth Waddling gait Split hand Retrognathia Obesity Kyphosis Nephropathy Generalized lipodystrophy Large hands Epicanthus Motor delay Muscular hypotonia Ovoid vertebral bodies Sensorineural hearing impairment Metaphyseal widening Generalized muscular appearance from birth Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Labial hypertrophy Insulin-resistant diabetes mellitus at puberty Hyperinsulinemia Prominent umbilicus Decreased serum leptin Congenital generalized lipodystrophy Decreased fertility in females Acute pancreatitis Large for gestational age Skeletal muscle hypertrophy High pitched voice Bone cyst Polyphagia Long foot Clitoral hypertrophy Broad ribs Lipodystrophy Hypertriglyceridemia Macrotia Elevated hepatic transaminase Cardiomegaly Cirrhosis Hepatic steatosis Thick lower lip vermilion Triangular face Epidermal acanthosis Lipoatrophy Kyphoscoliosis Polycystic ovaries Insulin resistance Acanthosis nigricans Abnormality of the genital system Urinary glycosaminoglycan excretion Edema Short hallux Incoordination Corneal dystrophy Glaucoma Intellectual disability, severe Mild short stature Respiratory distress Thickened calvaria Short stature Papilledema Scaphocephaly Tracheobronchomalacia Intestinal pseudo-obstruction Retinoschisis Bilateral coxa valga Widely spaced teeth Severe short stature Abnormality of the cerebral white matter Curly eyelashes Attention deficit hyperactivity disorder Concentric hypertrophic cardiomyopathy Erlenmeyer flask deformity of the femurs Congenital, generalized hypertrichosis Genu valgum Delayed eruption of teeth Visual impairment Ptosis Widened posterior fossa Congenital hypertrophy of left ventricle Hypoplastic ischiopubic rami Broad first metatarsal Neurodegeneration Postural instability Aortic regurgitation Recurrent otitis media Intellectual disability, progressive Exercise intolerance Elbow flexion contracture Hoarse voice Abnormality of retinal pigmentation Cuboid-shaped vertebral bodies Intellectual disability, profound Asthma Thick upper lip vermilion Broad hallux phalanx Esodeviation Generalized hypertrichosis Deep plantar creases Large sella turcica Pigmentary retinopathy Pes cavus Long face Hip dysplasia Nevus flammeus Rhabdomyosarcoma Ureteral duplication Visceromegaly Gonadoblastoma Hemihypertrophy Diastasis recti Multiple renal cysts Neonatal hypoglycemia Pseudohypoparathyroidism Enlarged kidney Exocrine pancreatic insufficiency Prominent metopic ridge Polycythemia Neuroblastoma Neurodevelopmental delay Prominent occiput Otosclerosis Abnormality of earlobe Nephroblastoma Branchial cyst Large intestinal polyposis Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of pancreas morphology Congenital megaureter Large placenta Posterior helix pit Infra-orbital crease Asymmetric growth Adrenocortical carcinoma Facial hemangioma Urogenital fistula Leiomyosarcoma Elevated alpha-fetoprotein Hepatoblastoma Anterior creases of earlobe Choroideremia Melanocytic nevus Redundant skin Lumbar hyperlordosis Thoracic kyphosis Cervical instability Cervical myelopathy Prominent sternum Constrictive median neuropathy Flared iliac wings Disproportionate short-trunk short stature Hypoplastic iliac wing Hypoplasia of the odontoid process Anterior wedging of L1 Aseptic necrosis Spinal canal stenosis Metaphyseal irregularity Epiphyseal dysplasia Opacification of the corneal stroma Aortic valve stenosis Thickened skin Decreased body weight Hypoplastic acetabulae Anterior wedging of L2 Hypercalciuria Vesicoureteral reflux Relative macrocephaly Arnold-Chiari malformation Wide anterior fontanel Large fontanelles Omphalocele Congenital diaphragmatic hernia Prominent nose Poor speech Neoplasm Neurological speech impairment Feeding difficulties in infancy Hypoglycemia Polyhydramnios Proptosis Autism Midface retrusion Abnormality of cardiovascular system morphology Thin ribs Interphalangeal joint contracture of finger Pericardial effusion Severe global developmental delay Left ventricular hypertrophy Small nail Dandy-Walker malformation Delayed myelination Bifid uvula Thin vermilion border Absent speech Lissencephaly Hypertonia Hypoplasia of the corpus callosum Ventricular septal defect Brachydactyly Aortic rupture Abnormal eye morphology Arterial rupture Short chin Failure to thrive in infancy Keloids Everted lower lip vermilion Asymmetric septal hypertrophy Motor deterioration Loss of speech Restlessness Coarse hair Growth abnormality Sleep disturbance Synophrys Cutis marmorata Respiratory tract infection Behavioral abnormality Dysphagia Skull asymmetry Periorbital fullness Severe failure to thrive Protruding tongue High-frequency sensorineural hearing impairment Bladder diverticulum Ovoid thoracolumbar vertebrae Talipes equinovarus Muscular dystrophy Scarring Pes planus Hyperkeratosis Elevated serum creatine phosphokinase Myopathy Gait disturbance Joint hypermobility Skeletal muscle atrophy Myopia Muscle weakness Scoliosis Thick hair Decreased fertility Pancreatitis Abnormality of the foot Bruising susceptibility Cleft soft palate Poor suck Follicular hyperkeratosis Soft skin Atrophic scars Difficulty climbing stairs Disproportionate tall stature Congenital muscular dystrophy Increased susceptibility to fractures Hyperextensible skin Microcornea Easy fatigability Poor head control Cutis laxa Severe muscular hypotonia Blue sclerae Hypotelorism Sloping forehead Thickened ribs Dense calvaria Broad hallux Strabismus Skeletal dysplasia Osteoporosis Prominent forehead Delayed skeletal maturation Recurrent infections Delayed speech and language development Abnormal pulmonary valve morphology Finger syndactyly Gastroparesis Hyperalaninemia 3-Methylglutaconic aciduria Moderate global developmental delay Abnormal aortic valve morphology Flat occiput Encephalitis Anxiety Platyspondyly Aplasia/Hypoplasia of the corpus callosum Low anterior hairline Flared metaphysis Elevated alkaline phosphatase Pyloric stenosis Prominent supraorbital ridges Bicuspid aortic valve Coxa valga Generalized hirsutism Lymphedema Narrow chest Gingival overgrowth Long eyelashes Abnormality of the metaphysis Low posterior hairline Thick vermilion border Short distal phalanx of finger Thick eyebrow Hyperammonemia Leukoencephalopathy Cellular metachromasia Oligomenorrhea Respiratory insufficiency Tremor Cataract Ataxia Glioma Abnormality of the ovary Angina pectoris Abnormality of lipid metabolism Hypospadias Insulin-resistant diabetes mellitus Hyperlipidemia Autoimmunity Diabetes mellitus Hyperhidrosis Dilatation Peripheral neuropathy Cerebellar atrophy Encephalopathy Microretrognathia Small for gestational age Intention tremor Pulmonary arterial hypertension Oligohydramnios Aciduria Increased serum lactate Flat face Lactic acidosis Short philtrum Arrhythmia Camptodactyly of finger Abnormality of the kidney Intellectual disability, moderate Neonatal hypotonia Acidosis Respiratory failure Cerebral cortical atrophy Subchorionic septal cyst



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Osteoporosis, related diseases and genetic alterations Macrocephaly and Insulin resistance, related diseases and genetic alterations Obesity and Joint hypermobility, related diseases and genetic alterations Obesity and Ectodermal dysplasia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more