Generalized hypotonia, and Asthma

Diseases related with Generalized hypotonia and Asthma

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

Top matches:

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency|acad8 deficiency|acyl-coa dehydrogenase family, member 8, deficiency of|isobutyric aciduria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Other less relevant matches:

ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

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

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Medium match HYPOPLASMINOGENEMIA

Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.

HYPOPLASMINOGENEMIA Is also known as plasminogen deficiency type 1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hyperreflexia
  • Macrocephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOPLASMINOGENEMIA

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Asthma

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Recurrent pneumonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Asthma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Myopia Immunodeficiency Recurrent infections Short stature Muscular hypotonia Failure to thrive

Rare Symptoms - Less than 30% cases

Hypermetropia Periodontitis Poor wound healing Feeding difficulties Delayed speech and language development Abnormal facial shape Macrocephaly Frontal bossing Diarrhea Autoimmunity Brachydactyly Microcephaly Abnormality of the dentition Joint hypermobility Narrow palpebral fissure Hernia Inguinal hernia Erythema Inflammatory abnormality of the skin Abnormality of the skeletal system Hemolytic anemia Eczema Epicanthus Hypertension Hearing impairment Respiratory tract infection Dysarthria Abnormal lung morphology Infantile muscular hypotonia Respiratory failure Atrial septal defect Recurrent respiratory infections Motor delay Ataxia Hypothyroidism Mitral valve prolapse Kyphoscoliosis Umbilical hernia Pes planus Spondylolisthesis Joint laxity Abnormality of the foot Bruising susceptibility Generalized joint laxity Varicose veins Retinal detachment Blue sclerae Aortic dissection Osteoarthritis Recurrent urinary tract infections Joint dislocation Dilatation Ectopia lentis Aortic aneurysm Atrophic scars Fragile skin Aortic root aneurysm Soft skin Hiatus hernia Hyperextensible skin Broad distal phalanx of finger Broad phalanx of the toes Short distal phalanx of finger Membranoproliferative glomerulonephritis Vasculitis in the skin Autoimmune neutropenia Cortical myoclonus Fever Renal insufficiency Pectus excavatum Rod-cone dystrophy Protruding ear Craniosynostosis Narrow chest Smooth philtrum Stage 5 chronic kidney disease Thin vermilion border Nephropathy Pes valgus Full cheeks Ectodermal dysplasia Hip dysplasia Limb undergrowth Hepatic fibrosis Bone marrow hypocellularity Cutis laxa Cone/cone-rod dystrophy Chronic kidney disease Nephronophthisis Cutaneous finger syndactyly Elevated serum creatinine Sagittal craniosynostosis Hyperextensibility of the finger joints Bladder diverticulum Thyroid dysgenesis Rectal prolapse Abnormality of the ovary Venous thrombosis Abnormality of vision Recurrent upper respiratory tract infections Nephritis Chronic otitis media Epiphora Abnormality of the ear Premature loss of teeth Gingivitis Recurrent bronchitis Abnormality of the respiratory system Abnormality of the larynx Stomatitis Recurrent pharyngitis Hoarse voice Keratoconjunctivitis Abnormality of the middle ear Duodenal ulcer Gastrointestinal inflammation Abnormality of the gallbladder Abnormality of the fallopian tube Abnormality of the mediastinum Reduced factor XII activity Abnormality of fontanelles Chronic irritative conjunctivitis Geographic tongue Vaginitis Cervicitis Decreased level of plasminogen Conjunctivitis Sinusitis Severe combined immunodeficiency Membranous ventricular septal aneurysm Eczematoid dermatitis Lop ear Cigarette-paper scars Premature rupture of membranes Narrow maxilla Molluscoid pseudotumors Myxomatous mitral valve degeneration Arterial rupture Irregularly spaced teeth Bowel diverticulosis Hyperextensibility at elbow Subcutaneous spheroids Hyperextensibility of the knee Premature birth following premature rupture of fetal membranes Hyperreflexia Gingival overgrowth Hypoplasia of the corpus callosum Hydrocephalus Blindness Abnormality of metabolism/homeostasis Visual loss Cerebellar hypoplasia Abnormality of the eye Scarring Papule Otitis media Abnormality of the skin Dandy-Walker malformation Recurrent otitis media Nephrolithiasis Allergic rhinitis Recurrent skin infections Atopic dermatitis Hyperkeratosis Abnormal intestine morphology Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis Choreoathetosis Growth delay Cataract Flexion contracture Chorea Hypertonia Sleep disturbance Abnormality of movement Photophobia Type I diabetes mellitus Pallor Abnormal cardiac septum morphology Dry skin Ichthyosis Tetraplegia Generalized myoclonic seizures Brain atrophy Delayed myelination Spastic tetraplegia High myopia Intellectual disability, profound Aspiration Scaling skin Short chin Chronic diarrhea Drusen Pyelonephritis Increased thyroid-stimulating hormone level Parkinsonism with favorable response to dopaminergic medication Congenital hypothyroidism Abnormality of the thyroid gland Cardiomyopathy Vomiting Dilated cardiomyopathy Pulmonic stenosis Dehydration Cardiomegaly Mild global developmental delay Decreased plasma carnitine Peripheral pulmonary artery stenosis Neonatal hyperbilirubinemia Hepatitis Interstitial pulmonary abnormality Low-set ears Hepatomegaly Athetosis Neonatal respiratory distress Hyperkinesis Splenomegaly Clinodactyly Posteriorly rotated ears Diabetes mellitus Proptosis Camptodactyly Dolichocephaly Malabsorption Abnormality of visual evoked potentials Myopathy Combined immunodeficiency Hyporeflexia Dystonia Oligodontia Eosinophilia Myopathic facies Delayed ability to walk Thin eyebrow Respiratory distress Scoliosis Sensorineural hearing impairment Cognitive impairment High palate Respiratory insufficiency Ventricular septal defect Myoclonus Hypsarrhythmia Gastroesophageal reflux Conductive hearing impairment Abnormality of the nervous system Neutropenia Sensory impairment Lymphoma Skeletal muscle atrophy Bronchiectasis Lymphopenia Vasculitis Leukopenia Compensated hypothyroidism Glomerulonephritis Short palpebral fissure Microdontia Apnea Episodic fever Thrombocytopenia Hepatosplenomegaly Lymphadenopathy Difficulty walking Nail dysplasia Nephrotic syndrome Hypoplasia of dental enamel Hypohidrosis Recurrent bacterial infections Abnormality of dental enamel Sarcoma Anhidrosis Autoimmune hemolytic anemia Hypoplasia of the iris Prominent nose Amelogenesis imperfecta Recurrent lower respiratory tract infections Intermittent diarrhea Hypertelorism Spasticity Gait ataxia Long philtrum Hyperactivity Narrow mouth Thin upper lip vermilion Anxiety Attention deficit hyperactivity disorder Unsteady gait Hypodontia Pneumomediastinum


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