Cardiomyopathy, and Abnormality of the ribs

Diseases related with Cardiomyopathy and Abnormality of the ribs

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


Top matches:

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2


Related symptoms:

  • Pain
  • Cardiomyopathy
  • Dyspnea
  • Hypertrophic cardiomyopathy
  • Chest pain


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2

Low match PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME


Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.

PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME Is also known as progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome|progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Dyspnea
  • Hypertrophic cardiomyopathy
  • Chest pain
  • Syncope


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME

Low match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

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Other less relevant matches:

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Low 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

Low match NOONAN SYNDROME 6; NS6


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Low match COMPLEX LETHAL OSTEOCHONDRODYSPLASIA


Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Abnormality of the ribs

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Dysostosis multiplex Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Abnormality of the ribs. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Sleep disturbance Recurrent upper respiratory tract infections Coarse hair Thickened ribs Asymmetric septal hypertrophy Heparan sulfate excretion in urine Synophrys Ovoid thoracolumbar vertebrae Low-set ears Hirsutism Seizures Motor delay Diarrhea Splenomegaly Joint stiffness Hepatomegaly Hyperactivity Behavioral abnormality Coarse facial features Hypertelorism Anteverted nares Dense calvaria Growth abnormality Flexion contracture Dysphagia Growth delay

Rare Symptoms - Less than 30% cases


Ataxia Delayed speech and language development Restlessness Relative macrocephaly Pulmonary hypoplasia Dementia Wormian bones Limb ataxia Limb undergrowth Progressive neurologic deterioration Flat face Short neck Respiratory tract infection Cellular metachromasia Dyspnea Chest pain Syncope Left ventricular hypertrophy Sensorineural hearing impairment Short stature Generalized hypotonia Failure to thrive Cardiomegaly Wide nasal bridge Edema Macrocephaly Webbed neck Prominent forehead Aggressive behavior Hypertrichosis Polyhydramnios Hyperkeratosis Broad forehead Pulmonic stenosis Motor deterioration Microcephaly Leukemia Bilateral ptosis Juvenile myelomonocytic leukemia Cryptorchidism Long eyebrows Abnormal heart morphology Ptosis Sparse hair Asymmetry of the thorax Epicanthus Myopia Growth hormone deficiency Curly hair Downslanted palpebral fissures Broad neck Intellectual disability, mild High forehead Cafe-au-lait spot Cerebellar hypoplasia Micrognathia Dry skin Abnormal facial shape Cognitive impairment Anemia Talipes equinovarus Dilatation Delayed skeletal maturation Elevated serum creatine phosphokinase Constipation Hypothyroidism Skeletal dysplasia Joint laxity Intellectual disability, moderate Hip dislocation Delayed eruption of teeth Fractured radius Macroglossia Broad-based gait Omphalocele Clumsiness Hoarse voice Increased body weight Congenital hip dislocation Coxa vara Hypercholesterolemia Congenital hypothyroidism Drowsiness Long thorax Thyroid hormone receptor defect No permanent dentition Decreased fibular diameter Multiple rib fractures Cleft palate Platyspondyly Intrauterine growth retardation Ventricular septal defect Ventriculomegaly Short nose Hypospadias Everted lower lip vermilion Posteriorly rotated ears Brachycephaly Micropenis Osteopenia Hydronephrosis Telecanthus Cleft lip Small for gestational age Recurrent fractures Beaded ribs Ascites Hydrops fetalis Short ribs Disproportionate short-limb short stature Adducted thumb Pleural effusion Flared metaphysis Thoracic hypoplasia Single umbilical artery Decreased skull ossification Short femur Unilateral cleft lip Multiple prenatal fractures Large fleshy ears Loss of speech Pain Dolichocephaly Falls Apnea Feeding difficulties in infancy Hyperlordosis Paralysis Cough Dilated cardiomyopathy Arthrogryposis multiplex congenita Limb muscle weakness Genu valgum Generalized muscle weakness Proximal muscle weakness Waddling gait Decreased fetal movement Frequent falls Joint contracture of the hand Narrow face Foot dorsiflexor weakness Knee flexion contracture Respiratory insufficiency due to muscle weakness Infantile muscular hypotonia EMG: myopathic abnormalities Facial palsy Neonatal hypotonia Akinesia Respiratory insufficiency Ventricular hypertrophy Prolonged QT interval Left bundle branch block Scoliosis Muscle weakness High palate Feeding difficulties Hyperreflexia Abnormality of the skeletal system Respiratory distress Rigidity Myopathy Hypertonia Congestive heart failure Pectus excavatum Areflexia Hyporeflexia Recurrent respiratory infections Pes cavus Respiratory failure Retrognathia Congenital contracture Myotonia Hepatosplenomegaly Drooling Dysarthria Frontal bossing Absent speech Difficulty walking Wide mouth Thick eyebrow Thick lower lip vermilion Chronic diarrhea Progressive hearing impairment Peripheral neuropathy Visceromegaly Tremor Cerebellar atrophy Dysmetria Retinal degeneration Neurodegeneration Protuberant abdomen Hernia Rod-cone dystrophy Kyphoscoliosis Umbilical hernia Central nervous system degeneration Thickened calvaria Mask-like facies Type 1 muscle fiber predominance Myopathic facies Mildly elevated creatine phosphokinase Bulbar palsy Spinal rigidity Thin ribs Hypoventilation EMG: neuropathic changes Facial diplegia Fetal akinesia sequence Nemaline bodies Breech presentation Split hand Slender build Neck flexor weakness Diaphragmatic paralysis Fetal distress Percussion myotonia Late-onset distal muscle weakness Intellectual disability, severe Pneumonia Cerebral cortical atrophy Corneal opacity Increased T3/T4 ratio



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