Cardiomyopathy, and Bronchiectasis

Diseases related with Cardiomyopathy and Bronchiectasis

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


Top matches:

Medium 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

Medium match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match CILIARY DYSKINESIA, PRIMARY, 32; CILD32


Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by Jeanson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 32; CILD32 Is also known as ciliary dyskinesia, primary, 32, without situs inversus

Related symptoms:

  • Respiratory distress
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Infertility
  • Dyskinesia


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 32; CILD32

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Other less relevant matches:

Low match CILIARY DYSKINESIA, PRIMARY, 35; CILD35


Primary ciliary dyskinesia-35 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 35; CILD35 Is also known as ciliary dyskinesia, primary, 35, with or without situs inversus

Related symptoms:

  • Pneumonia
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough
  • Dyskinesia


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 35; CILD35

Low match CILIARY DYSKINESIA, PRIMARY, 29; CILD29


Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by Wallmeier et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.

CILIARY DYSKINESIA, PRIMARY, 29; CILD29 Is also known as ciliary dyskinesia, primary, 29, without situs inversus

Related symptoms:

  • Recurrent respiratory infections
  • Respiratory tract infection
  • Infertility
  • Dyskinesia
  • Otitis media


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 29; CILD29

Low match CILIARY DYSKINESIA, PRIMARY, 6; CILD6


Related symptoms:

  • Recurrent respiratory infections
  • Respiratory tract infection
  • Dyskinesia
  • Bronchiectasis
  • Sinusitis


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 6; CILD6

Low match CILIARY DYSKINESIA, PRIMARY, 21; CILD21


Primary ciliary dyskinesia-21 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by Wirschell et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 21; CILD21 Is also known as ciliary dyskinesia, primary, 21, without situs inversus

Related symptoms:

  • Respiratory distress
  • Pneumonia
  • Dyskinesia
  • Otitis media
  • Recurrent otitis media


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 21; CILD21

Low match CILIARY DYSKINESIA, PRIMARY, 17; CILD17


Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 17; CILD17 Is also known as ciliary dyskinesia, primary, 17, with or without situs inversus

Related symptoms:

  • Respiratory distress
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Paralysis
  • Cough


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 17; CILD17

Low match CILIARY DYSKINESIA, PRIMARY, 7; CILD7


Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003).

CILIARY DYSKINESIA, PRIMARY, 7; CILD7 Is also known as ciliary dyskinesia, primary, 7, with or without situs inversus

Related symptoms:

  • Pneumonia
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough
  • Dyskinesia


SOURCES: OMIM MESH MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 7; CILD7

Low match CILIARY DYSKINESIA, PRIMARY, 16; CILD16


Primary ciliary dyskinesia-16 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (summary by Mazor et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 16; CILD16 Is also known as ciliary dyskinesia, primary, 16, with or without situs inversus

Related symptoms:

  • Respiratory distress
  • Dyskinesia
  • Bronchiectasis
  • Situs inversus totalis
  • Chronic otitis media


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 16; CILD16

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Bronchiectasis

Symptoms // Phenotype % cases
Dyskinesia Common - Between 50% and 80% cases
Ciliary dyskinesia Common - Between 50% and 80% cases
Situs inversus totalis Common - Between 50% and 80% cases
Recurrent respiratory infections Common - Between 50% and 80% cases
Respiratory tract infection Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Chronic sinusitis

Uncommon Symptoms - Between 30% and 50% cases


Sinusitis Pneumonia Otitis media Respiratory distress Neonatal respiratory distress Recurrent otitis media Cough Infertility Chronic rhinitis

Rare Symptoms - Less than 30% cases


Sacral dimple Immotile cilia Decreased antibody level in blood Lymphoma Recurrent pneumonia Squamous cell carcinoma Hodgkin lymphoma Rhinitis Leukemia Abnormality of chromosome stability Short stature Neoplasm Immunodeficiency Diarrhea Failure to thrive Growth delay Abnormal ciliary motility Absent outer dynein arms Recurrent infections Delayed skeletal maturation Abnormal respiratory motile cilium morphology Severe short stature Recurrent sinusitis Atelectasis Recurrent lower respiratory tract infections Anemia Metaphyseal dysplasia Limited elbow extension High hypermetropia Abnormality of the hip bone Tibial bowing Basal cell carcinoma Anal stenosis Macrocytic anemia Lymphopenia Hypoplasia of the odontoid process Esophageal atresia Distal arthrogryposis Exocrine pancreatic insufficiency Thrombocytosis Femoral bowing Upper limb undergrowth Heart block Fair hair Tracheal stenosis Overweight Disproportionate short-limb short stature Mesomelia Accelerated skeletal maturation Sparse and thin eyebrow Gingival overgrowth Abnormality of retinal pigmentation B-cell lymphoma Rhizomelia Hypocalcemia Abnormality of epiphysis morphology Sparse eyelashes Aganglionic megacolon Short thorax Neoplasm of the skin Abnormal palate morphology Reduced tendon reflexes Short ribs Abnormality of pelvic girdle bone morphology Genu varum Portal hypertension Metaphyseal widening Cone-shaped epiphysis Generalized joint laxity Abnormal T cell morphology Aplastic anemia Susceptibility to chickenpox Metaphyseal dysostosis Impaired lymphocyte transformation with phytohemagglutinin Sparse facial hair Severe T-cell immunodeficiency Biconvex vertebral bodies Abnormality of humoral immunity Absent pubertal growth spurt Flaring of lower rib cage Pulmonary lymphoma Long fibula Nasal polyposis Productive cough Absent/shortened outer dynein arms Paralysis Dextrocardia Bronchitis Recurrent bronchitis Chronic otitis media Non-Hodgkin lymphoma Narrow vertebral interpedicular distance Abnormality of the pancreas Mucopolysacchariduria Aplasia/Hypoplasia of the abdominal wall musculature Aplasia/Hypoplasia affecting the eye Metaphyseal chondrodysplasia Cellular immunodeficiency Metaphyseal cupping Bronchiolitis Diaphyseal thickening Abnormal diaphysis morphology Normocytic anemia Abnormality of the distal phalanx of finger Hypersplenism Large face Spinal dysraphism Congenital hypoplastic anemia Neonatal short-limb short stature Abnormal bone ossification Abnormally ossified vertebrae Hypoplastic anemia Abnormal form of the vertebral bodies Bowing of the long bones Short palm Abnormality of the metaphysis IgA deficiency Narrow face Azoospermia Hypopigmented skin patches Reduced number of teeth Hand polydactyly High pitched voice Pulmonary fibrosis Telangiectasia of the skin Myeloid leukemia Acute myeloid leukemia IgG deficiency Telangiectasia Acute leukemia Hypoplasia of the zygomatic bone Chromosome breakage Hypoplastic pelvis Chronic lung disease Chronic obstructive pulmonary disease Abnormality of the nose IgM deficiency Decreased fertility in females Female infertility Spotty hypopigmentation Cafe-au-lait spot Abnormality of the face Neoplasm of the gastrointestinal tract Polydactyly Micrognathia Cryptorchidism Intrauterine growth retardation Abnormality of the dentition Intellectual disability, mild Short nose Malar flattening Syndactyly Clinodactyly of the 5th finger Hyperhidrosis Diabetes mellitus Postnatal growth retardation Hypertrichosis Protruding ear Erythema Skin rash Finger syndactyly Dolichocephaly Ichthyosis Prominent nose Abnormality of the skin Specific learning disability Type II diabetes mellitus Cutaneous photosensitivity Spotty hyperpigmentation Agenesis of maxillary lateral incisor Depressed nasal ridge Micromelia Low-set, posteriorly rotated ears Hyperlordosis Sparse hair Abnormal cardiac septum morphology Pectus carinatum Arthrogryposis multiplex congenita Hypotrichosis Malabsorption Narrow chest Joint hyperflexibility Joint hypermobility Carcinoma Microcephaly Small hand Neutropenia Hypopigmentation of the skin Postural instability Gastrointestinal hemorrhage Convex nasal ridge Abnormality of the ribs Lumbar hyperlordosis Blue sclerae Fine hair Joint laxity EEG abnormality Facial telangiectasia in butterfly midface distribution Myopia Intellectual disability Scoliosis Strabismus Muscular hypotonia Cognitive impairment Visual impairment Depressed nasal bridge Hypertension Epicanthus Hepatomegaly Wide nasal bridge Abnormality of the skeletal system Skeletal dysplasia Anteverted nares Respiratory insufficiency Short neck Splenomegaly Dilatation Thrombocytopenia Constipation Alopecia Prominent forehead Brachycephaly Macrotia Recurrent sinopulmonary infections



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