Delayed speech and language development, and Bronchiectasis

Diseases related with Delayed speech and language development and Bronchiectasis

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


Top matches:

High match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Autosomal dominant inheritance
  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Tics


SOURCES: MESH MONDO OMIM UMLS

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Medium match IMMUNODEFICIENCY 8; IMD8

IMMUNODEFICIENCY 8; IMD8 Is also known as ;scid due to coro1a deficiency; scid due to coronin-1a deficiency; severe combined immunodeficiency due to coronin-1a deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET DOID MONDO OMIM UMLS

More info about IMMUNODEFICIENCY 8; IMD8

Medium match NEPHRONOPHTHISIS 15; NPHP15

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Nystagmus
  • Abnormal facial shape


SOURCES: UMLS OMIM DOID MONDO

More info about NEPHRONOPHTHISIS 15; NPHP15

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Other less relevant matches:

Medium match IMMUNODEFICIENCY 36; IMD36

IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Growth delay
  • Splenomegaly
  • Diarrhea


SOURCES: MONDO UMLS OMIM

More info about IMMUNODEFICIENCY 36; IMD36

Medium match USHER SYNDROME, TYPE I; USH1

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 I; USH1 Is also known as us1, retinitis pigmentosa and congenital deafness

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM UMLS SCTID

More info about USHER SYNDROME, TYPE I; USH1

Medium match PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

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
  • Pica
  • Failure to thrive


SOURCES: MONDO OMIM

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

Medium match DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME

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

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

Medium match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients that is explained by mutations in the DNMT3B gene in some, but not all, ICF patients (Hagleitner et al., 2008). Genetic Heterogeneity of Immunodeficiency-Centromeric Instability-Facial Anomalies SyndromeSee also ICF2 (OMIM ), caused by mutation in the ZBTB24 gene (OMIM ) on chromosome 6q21; ICF3 (OMIM ), caused by mutation in the CDCA7 gene (OMIM ) on chromosome 2q31; and ICF4 (OMIM ), caused by mutation in the HELLS gene (OMIM ) on chromosome 10q23.

IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1 Is also known as immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16, centromeric instability, immunodeficiency syndrome;ciid, immunodeficiency syndrome, variable

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: OMIM SCTID DOID MONDO UMLS

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1

Medium match IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

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 immunodeficiency, common variable, with central adrenal insufficiency, deficit in anterior pituitary function and variable immunodeficiency;david

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia


SOURCES: OMIM UMLS

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Medium match IMMUNODEFICIENCY 23; IMD23

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.

IMMUNODEFICIENCY 23; IMD23 Is also known as immunodeficiency with hyper ige and cognitive impairment, immunodeficiency-vasculitis-myoclonus syndrome;ivms;cid due to pgm3 deficiency; combined immunodeficiency due to pgm3 deficiency; pgm3-related congenital disorder of glycosylation

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO GARD ORPHANET OMIM UMLS

More info about IMMUNODEFICIENCY 23; IMD23

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Bronchiectasis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Recurrent respiratory infections Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Recurrent pneumonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Bronchiectasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Recurrent infections Respiratory tract infection Decreased antibody level in blood Intellectual disability Seizures Diarrhea Autosomal dominant inheritance Abnormal facial shape Blindness Lymphopenia Chronic diarrhea Lymphoma Pneumonia Sinusitis

Rare Symptoms - Less than 30% cases


Growth delay Growth hormone deficiency Sepsis Nail dystrophy Alopecia Alopecia totalis Recurrent sinopulmonary infections Short stature Retinal degeneration Psoriasiform dermatitis Visual loss Inflammation of the large intestine Inflammatory abnormality of the skin Pica Hearing impairment Ataxia Sensorineural hearing impairment Combined immunodeficiency Asthma Chronic sinusitis Lymphadenopathy Milia Recurrent upper respiratory tract infections Autoimmune thrombocytopenia Infantile onset Hypohidrosis Agammaglobulinemia Recurrent infection of the gastrointestinal tract Splenomegaly Arthritis Cognitive impairment Anemia High forehead Depressed nasal bridge Epicanthus Recurrent sinusitis Anteverted nares Short nose Malar flattening Hypospadias Recurrent hypoglycemia Low-set ears Flat face Macroglossia Neurodegeneration Allergic rhinitis Otitis media Atopic dermatitis Severe combined immunodeficiency Malabsorption Micrognathia Cryptorchidism Adrenocorticotropin deficient adrenal insufficiency Vasculitis in the skin Autoimmune neutropenia Recurrent bronchitis Decreased circulating cortisol level Recurrent pharyngitis Hypoglycemic coma Decreased circulating ACTH level Decreased serum insulin-like growth factor 1 Cortical myoclonus Decreased circulating androgen level Severe viral infections Abnormal size of pituitary gland Severe B lymphocytopenia Abnormality of the periungual region Shawl scrotum Hypertelorism Membranoproliferative glomerulonephritis Malnutrition Myoclonus Protruding tongue Scoliosis Neutropenia Mania Vitiligo Adrenocorticotropic hormone deficiency Alopecia areata Central adrenal insufficiency Trachyonychia Generalized hypotonia High palate Eczema Hemolytic anemia Clonus Dysarthria Brachydactyly Abnormality of the nervous system Abnormality of the skeletal system Hyporeflexia Conductive hearing impairment Adrenal insufficiency Sensory impairment Bronchitis Renal insufficiency Gastroesophageal reflux Decrease in T cell count Opportunistic infection Glomerulonephritis Spasticity Gait disturbance Dysphagia Cellulitis Hypoglycemia Purpura Retinopathy Recurrent skin infections Cortical visual impairment Narrow palpebral fissure Leukopenia Vasculitis Meningitis Nephritis Chronic bronchitis Hemiplegia Hyponatremia Hepatic failure Papilloma Hodgkin lymphoma Lymphoproliferative disorder Nystagmus Obesity Elevated hepatic transaminase Polydactyly Abnormality of the liver Cerebellar vermis hypoplasia Attention deficit hyperactivity disorder Nephronophthisis Congenital blindness Autoimmunity Recurrent bacterial infections Neurodevelopmental delay Allergy Enlarged tonsils Motor delay Pruritus Hyperactivity Heterogeneous Sparse scalp hair Tics Frontal bossing Hepatosplenomegaly Sparse hair Dry skin Hypodontia Ectodermal dysplasia Fine hair Aplasia of the sweat glands Leukocytosis Anhidrosis Concave nasal ridge Heat intolerance Conical tooth Lymphocytosis Hidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Periorbital wrinkles Cataract Depressivity Diplopia Enterocolitis Hyperpigmentation of the skin Opacification of the corneal stroma Corneal dystrophy Colitis Failure to thrive in infancy Keratitis Amyloidosis Ulcerative colitis Corneal scarring Abnormality of skin pigmentation Broad eyebrow Urethral stricture Cutaneous amyloidosis Red eye Generalized reticulate brown pigmentation Fatigue Hypotension Recurrent otitis media Absence seizures Scarring X-linked inheritance Rod-cone dystrophy Vestibular dysfunction Nyctalopia Acrania Psychosis Clumsiness Mutism Progressive hearing impairment Decreased fertility Severe hearing impairment Undetectable electroretinogram Photophobia Tapetoretinal degeneration Absent vestibular function Visual impairment Pain Abnormality of metabolism/homeostasis Inguinal hernia Hernia X-linked recessive inheritance Hyperkeratosis Unilateral narrow palpebral fissure



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