Global developmental delay, and Bronchiectasis

Diseases related with Global developmental delay and Bronchiectasis

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

Top matches:

SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY Is also known as severe combined immunodeficiency due to coronin-1a deficiency|scid due to coro1a deficiency|scid due to coronin-1a deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY

Related symptoms:

  • Seizures
  • Global developmental delay
  • Nystagmus
  • Abnormal facial shape
  • Blindness


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 15; NPHP15

Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME Is also known as irf8 deficiency, autosomal recessive|epstein-barr virus, susceptibility to chronic infection by|immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive|caebv syndrome|chronic ebv infection syndrome

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME

Other less relevant matches:

Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about USHER SYNDROME TYPE 1

Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency|david|immunodeficiency, common variable, with central adrenal insufficiency

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.

DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME Is also known as david syndrome

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Fatigue
  • Alopecia
  • Nail dystrophy


SOURCES: ORPHANET MENDELIAN

More info about DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

High 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

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Bronchiectasis

Symptoms // Phenotype % cases
Recurrent respiratory infections Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Bronchiectasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Seizures Intellectual disability Lymphopenia Pneumonia Sinusitis Recurrent pneumonia Decreased antibody level in blood Inflammatory abnormality of the skin Autoimmune thrombocytopenia Blindness Abnormal facial shape Diarrhea Sepsis Short stature Lymphoma

Rare Symptoms - Less than 30% cases

Thyroiditis Nail dystrophy Ataxia Autoimmune neutropenia Eczema Sensorineural hearing impairment Visual loss Hemolytic anemia Chronic sinusitis Gait disturbance Alopecia Asthma Dysarthria Recurrent upper respiratory tract infections Decrease in T cell count Growth hormone deficiency Combined immunodeficiency Purpura Psoriasiform dermatitis Inflammation of the large intestine Vitiligo Alopecia totalis Hearing impairment Enterocolitis Recurrent sinusitis Lymphadenopathy Hepatic failure Dilatation Thrombocytopenia Fatigue Chronic infection Generalized hypotonia Communicating hydrocephalus Chronic bronchitis Cellular immunodeficiency Abnormality of chromosome stability Hodgkin lymphoma Abnormality of neutrophils Impaired T cell function High palate Scoliosis Cognitive impairment Brachydactyly Abnormality of the skeletal system Hyporeflexia Myoclonus Gastroesophageal reflux Conductive hearing impairment Abnormality of the nervous system Erythema Agammaglobulinemia Protruding tongue Shawl scrotum Short nose Severe B lymphocytopenia Abnormality of the periungual region Lymphoproliferative disorder Hypertelorism Micrognathia Cryptorchidism Low-set ears Depressed nasal bridge Epicanthus Macrocephaly Anteverted nares Malar flattening Sensory impairment Hypospadias High forehead Umbilical hernia Malabsorption Flat face Neurodegeneration Macroglossia Otitis media Malnutrition B-cell lymphoma Bronchitis Neutropenia Narrow palpebral fissure Attention deficit hyperactivity disorder Primary hypothyroidism Patent foramen ovale Autoimmune hemolytic anemia Pulmonary embolism Hashimoto thyroiditis Dilatation of the cerebral artery Abnormality of the endocrine system Chronic mucocutaneous candidiasis Villous atrophy Generalized osteoporosis Immune dysregulation B lymphocytopenia Leukoencephalopathy Antiphospholipid antibody positivity Renovascular hypertension Renal artery stenosis Functional abnormality of the bladder Carotid artery dilatation Recurrent Aspergillus infections Susceptibility to herpesvirus Oropharyngeal squamous cell carcinoma Esophageal carcinoma Medial calcification of large arteries Encephalitis Abnormal intestine morphology Vasculitis Cortical myoclonus Decreased circulating androgen level Leukopenia Recurrent skin infections Glomerulonephritis Atopic dermatitis Severe combined immunodeficiency Allergic rhinitis Membranoproliferative glomerulonephritis Vasculitis in the skin Hyperactivity Growth delay Type I diabetes mellitus Congestive heart failure Delayed skeletal maturation Diabetes mellitus Hypothyroidism Osteopenia Hepatosplenomegaly Carcinoma Autoimmunity Delayed puberty Hepatitis Pulmonary arterial hypertension Abnormal size of pituitary gland Decreased serum insulin-like growth factor 1 Abnormal lymphocyte morphology Splenomegaly Peripheral visual field loss Undetectable electroretinogram Tapetoretinal degeneration Hemianopia Subcortical cerebral atrophy Vestibular hypofunction Abnormal cochlea morphology Absent vestibular function Spasticity Dysphagia Hypoglycemia Severe hearing impairment Fever Hepatomegaly Neoplasm Congenital blindness Meningitis Nephronophthisis Cerebellar vermis hypoplasia Adrenal insufficiency Retinal degeneration Abnormality of the liver Iris hypopigmentation High hypermetropia Alopecia areata Progressive visual loss Skin rash Cataract Motor delay Depressivity Respiratory failure Rod-cone dystrophy Cerebral cortical atrophy Anxiety Abnormality of the eye Nyctalopia Psychosis Scotoma Clumsiness Hallucinations Abnormality of dental enamel Progressive hearing impairment Mutism Schizophrenia Abnormal electroretinogram Aplasia/Hypoplasia of the cerebellum Vestibular dysfunction Decreased fertility Adrenocorticotropic hormone deficiency Central adrenal insufficiency Severe viral infections Papilloma Broad eyebrow Urethral stricture Recurrent infection of the gastrointestinal tract Cutaneous amyloidosis Generalized reticulate brown pigmentation Decreased proportion of CD4-positive T cells Hypotension Recurrent otitis media Diplopia Absence seizures Hyponatremia Nystagmus Hyperkalemia Recurrent sinopulmonary infections Recurrent bronchitis Recurrent hypoglycemia Decreased circulating cortisol level Autoimmune antibody positivity Recurrent pharyngitis Decreased circulating ACTH level Hypoglycemic coma Adrenocorticotropin deficient adrenal insufficiency Corneal scarring Focal dystonia Trachyonychia Abnormality of skin pigmentation Visual impairment Elevated hepatic transaminase Polydactyly Dystonia Abnormality of metabolism/homeostasis Hernia Inguinal hernia Hyperkeratosis Photophobia Scarring Chronic diarrhea Ulcerative colitis Hypohidrosis Hyperpigmentation of the skin Opacification of the corneal stroma Corneal dystrophy Failure to thrive in infancy Hemiplegia Keratitis Obesity Colitis Amyloidosis Abnormal serum interferon-gamma level


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