Hyperreflexia, and Bronchiectasis

Diseases related with Hyperreflexia and Bronchiectasis

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

Top matches:

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Medium match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Other less relevant matches:

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

Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by El Khouri et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 34; CILD34 Is also known as ciliary dyskinesia, primary, 34, without situs inversus

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 34; CILD34

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

Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by Olbrich et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 33; CILD33 Is also known as ciliary dyskinesia, primary, 33, without situs inversus

Related symptoms:

  • Hearing impairment
  • Recurrent infections
  • Conductive hearing impairment
  • Respiratory tract infection
  • Cough


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 33; CILD33

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

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

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 6; CILD6

Top 5 symptoms//phenotypes associated to Hyperreflexia and Bronchiectasis

Symptoms // Phenotype % cases
Respiratory tract infection Common - Between 50% and 80% cases
Recurrent respiratory infections Common - Between 50% and 80% cases
Dyskinesia Common - Between 50% and 80% cases
Ciliary dyskinesia Common - Between 50% and 80% cases
Pneumonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia Situs inversus totalis Short stature Recurrent infections Failure to thrive Conductive hearing impairment Sinusitis Lymphoma Recurrent pneumonia Immunodeficiency Cognitive impairment Scoliosis Lymphopenia Infertility Intellectual disability Chronic rhinitis Hearing impairment

Rare Symptoms - Less than 30% cases

Ataxia Dysarthria Abnormality of the skeletal system Seizures Exocrine pancreatic insufficiency Gingival overgrowth Myoclonus Telangiectasia Neutropenia Global developmental delay Carcinoma Combined immunodeficiency Cellular immunodeficiency Chronic sinusitis Atelectasis Recurrent otitis media Otitis media Cough Immotile cilia Non-Hodgkin lymphoma Abnormality of chromosome stability B-cell lymphoma Severe combined immunodeficiency Recurrent bronchitis Recurrent lower respiratory tract infections Hodgkin lymphoma Reduced tendon reflexes Leukemia Polyneuropathy Strabismus Neoplasm Blue sclerae Decreased antibody level in blood Anteverted nares Delayed puberty Severe short stature Alopecia Low-set, posteriorly rotated ears Delayed skeletal maturation Abnormal cardiac septum morphology Splenomegaly Wide nasal bridge Brachydactyly Hepatomegaly Pectus carinatum Hypotrichosis Malabsorption Epicanthus Flexion contracture Diabetes mellitus Sensorineural hearing impairment Growth delay Generalized hypotonia Abnormality of the testis Micromelia Gastrointestinal hemorrhage Postural instability Hypopigmentation of the skin Small hand Short palm Joint hypermobility Joint hyperflexibility EEG abnormality Convex nasal ridge Arthrogryposis multiplex congenita Sparse hair Hyperlordosis Skeletal dysplasia Joint laxity Narrow chest Fever Abnormality of the ribs Aganglionic megacolon Hypocalcemia Short ribs Sparse and thin eyebrow Abnormality of retinal pigmentation Rhizomelia Chromosome breakage Abnormality of epiphysis morphology Bowing of the long bones Macrotia Abnormal form of the vertebral bodies Abnormality of the metaphysis Ventriculomegaly Renal neoplasm Depressed nasal ridge Ventricular septal defect Fine hair Lumbar hyperlordosis Prominent forehead Brachycephaly Spinocerebellar tract degeneration Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Absent Achilles reflex Progressive spinal muscular atrophy Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Hypoplasia of the thymus Chronic lymphatic leukemia Frontal bossing Conjunctival telangiectasia Mucosal telangiectasiae Immunoglobulin IgG2 deficiency Constipation Myopia Thrombocytopenia Dilatation Diarrhea Cardiomyopathy Short neck Respiratory insufficiency Sparse eyelashes Decreased/absent ankle reflexes Depressed nasal bridge Visual impairment Lymphoproliferative disorder Muscular hypotonia Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Hypertension Lymphadenopathy Accelerated skeletal maturation Abnormality of the distal phalanx of finger Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Long fibula Narrow vertebral interpedicular distance Abnormal T cell morphology Absent pubertal growth spurt Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Abnormality of humoral immunity Flaring of lower rib cage Normocytic anemia Recurrent ear infections Abnormal ciliary motility Absent outer dynein arms Abnormal respiratory motile cilium morphology Recurrent sinusitis Productive cough Nasal polyposis Rhinitis Chronic lung disease Susceptibility to chickenpox Abnormal lung morphology Hypertelorism Ptosis Neonatal respiratory distress Respiratory distress Recurrent sinopulmonary infections Pulmonary lymphoma Hypersplenism Mucopolysacchariduria Neoplasm of the skin Short thorax High hypermetropia Abnormality of the hip bone Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Squamous cell carcinoma Macrocytic anemia Cone-shaped epiphysis Metaphyseal widening Portal hypertension Acute lymphoblastic leukemia Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Abnormal palate morphology Metaphyseal dysplasia Anal stenosis Abnormal diaphysis morphology Aplastic anemia Diaphyseal thickening Bronchiolitis Metaphyseal cupping Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Generalized joint laxity Hypoplasia of the odontoid process Tracheal stenosis Fair hair Heart block Upper limb undergrowth Overweight Thrombocytosis Distal arthrogryposis Esophageal atresia Genu varum Abnormality of the immune system Hepatocellular carcinoma Skin nodule Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Reticulocytopenia Histiocytosis Nasal obstruction Myelofibrosis Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Retinopathy Generalized lymphadenopathy Facial telangiectasia Episodic fever Abnormality of the kidney Hypothyroidism Dyspnea Pes planus High palate Hepatosplenomegaly Abnormal facial shape Camptodactyly Apnea Panniculitis Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Severe sensorineural hearing impairment Polycythemia Hyporeflexia Overgrowth Hypertrichosis Hypertriglyceridemia Epistaxis Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Amenorrhea Hyperpigmentation of the skin Decreased testicular size Wide intermamillary distance Growth hormone deficiency Full cheeks Recurrent fractures Abnormality of the foot Flat face Cleft upper lip Primary amenorrhea Gynecomastia Scleroderma Stridor Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Hyperglycemia Psoriasiform dermatitis Aspiration Lipodystrophy Sleep apnea Azoospermia Plagiocephaly Osteolysis Type I diabetes mellitus Elbow flexion contracture Hypergonadotropic hypogonadism Proptosis Micropenis Hypopigmentation of hair Pancytopenia Abnormality of the hair Abnormal vertebral morphology Intellectual disability, mild Cafe-au-lait spot Limb ataxia Choreoathetosis Intention tremor Type II diabetes mellitus Edema Apraxia Hepatitis Chorea Progressive cerebellar ataxia Abnormal cerebellum morphology Distal amyotrophy Unsteady gait Abnormality of movement Truncal ataxia Oculomotor apraxia Neurological speech impairment Aplasia/Hypoplasia of the skin Hydrocephalus IgA deficiency Prematurely aged appearance Myeloid leukemia Ichthyosis Telangiectasia of the skin Multiple cafe-au-lait spots Resting tremor Atrial septal defect Premature graying of hair Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Breast carcinoma Cerebral palsy Abnormality of eye movement Hernia Hyperkeratosis Inflammatory abnormality of the skin Allergic rhinitis Atopic dermatitis Glomerulonephritis Recurrent skin infections Leukopenia Narrow palpebral fissure Vasculitis Eczema Vasculitis in the skin Posteriorly rotated ears Sensory impairment Asthma Hypogonadism Hemolytic anemia Erythema Abnormality of the nervous system Gastroesophageal reflux Membranoproliferative glomerulonephritis Autoimmune neutropenia Distal muscle weakness Gait disturbance Abnormality of the liver Anxiety Clinodactyly Elevated hepatic transaminase Difficulty walking Gait ataxia Dystonia Cerebellar atrophy Tremor Cortical myoclonus Skeletal muscle atrophy Peripheral neuropathy Spasticity Muscle weakness Patent ductus arteriosus Abnormal heart morphology Nystagmus Microcephaly Absent/shortened outer dynein arms


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