Hearing impairment, and Infertility

Diseases related with Hearing impairment and Infertility

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

Top matches:

Perrault syndrome-2 is an autosomal recessive disorder characterized by sensorineural deafness in both males and females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile (summary by Pierce et al., 2011).For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Epicanthus
  • Infertility
  • Amenorrhea


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 2; PRLTS2

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Other less relevant matches:

CILIARY DYSKINESIA, PRIMARY, 2; CILD2 Is also known as ciliary dyskinesia, primary, 2, with or without situs inversus

Related symptoms:

  • Hearing impairment
  • Respiratory distress
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough


SOURCES: OMIM MESH MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 2; CILD2

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Delayed skeletal maturation


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7 Is also known as ihh|hypogonadism, isolated hypogonadotropic|idiopathic hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7

Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by Fassad et al., 2018 and Hoben et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 38; CILD38 Is also known as ciliary dyskinesia, primary, 38, with or without situs inversus

Related symptoms:

  • Respiratory distress
  • Conductive hearing impairment
  • Cough
  • Infertility
  • Dyskinesia


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 38; CILD38

CILIARY DYSKINESIA, PRIMARY, 37; CILD37 Is also known as ciliary dyskinesia, primary, 37, with or without situs inversus

Related symptoms:

  • Hearing impairment
  • Hypothyroidism
  • Conductive hearing impairment
  • Cough
  • Infertility


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 37; CILD37

Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Renal insufficiency
  • Recurrent respiratory infections
  • Rod-cone dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA-RETINITIS PIGMENTOSA SYNDROME

Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism (summary by Santens et al., 2015).

GORDON HOLMES SYNDROME; GDHS Is also known as cahh|cerebellar ataxia and hypogonadotropic hypogonadism|luteinizing hormone-releasing hormone, deficiency of, with ataxia|lhrh deficiency and ataxia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Abnormality of the skeletal system
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about GORDON HOLMES SYNDROME; GDHS

Top 5 symptoms//phenotypes associated to Hearing impairment and Infertility

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Amenorrhea Uncommon - Between 30% and 50% cases
Primary amenorrhea Uncommon - Between 30% and 50% cases
Dyskinesia Uncommon - Between 30% and 50% cases
Bronchiectasis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Infertility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sinusitis Hypogonadism Ciliary dyskinesia Chronic sinusitis Cough Otitis media Situs inversus totalis Immotile cilia Hypogonadotrophic hypogonadism Anosmia Azoospermia Decreased testicular size Micropenis Cryptorchidism Cleft palate

Rare Symptoms - Less than 30% cases

Respiratory distress Gynecomastia Absent inner and outer dynein arms Conductive hearing impairment Dextrocardia Rhinitis Recurrent lower respiratory tract infections Respiratory tract infection Recurrent respiratory infections Bronchitis Gonadotropin deficiency Ataxia Recurrent Haemophilus influenzae infections Recurrent ear infections Hypoxemia Atrophy/Degeneration affecting the brainstem High-frequency hearing impairment Atelectasis Recurrent bronchitis Recurrent upper respiratory tract infections Loss of speech Recurrent otitis media Oligomenorrhea Aspiration pneumonia Inappropriate behavior Confusion Rod-cone dystrophy Renal insufficiency Right aortic arch Dysarthria Aggressive behavior Cerebral cortical atrophy Parkinsonism Dementia Pneumonia Abnormality of metabolism/homeostasis Mental deterioration Chronic rhinitis Dysmetria Unsteady gait Abnormal cerebellum morphology Progressive cerebellar ataxia Abnormality of the skeletal system Chorea Memory impairment Aspiration Dysdiadochokinesis Cerebral atrophy Personality changes Impulsivity Cerebellar atrophy Brisk reflexes Sparse axillary hair Rhinorrhea High palate Anemia of inadequate production Male infertility Progressive sensorineural hearing impairment Narrow palpebral fissure Bilateral sensorineural hearing impairment Synophrys Prominent nasal bridge Brachydactyly Anemia Abnormal spermatogenesis Low-set ears Short stature Intellectual disability Hyposmia Furrowed tongue Severe sensorineural hearing impairment Severe hearing impairment Epicanthus Congenital hypoplastic anemia Reduced sperm motility Wheezing Sparse pubic hair Goiter Hypothyroidism Productive cough Recurrent sinopulmonary infections Neonatal respiratory distress Chronic otitis media Bimanual synkinesia Microphallus Bilateral cryptorchidism Moderate hearing impairment Abnormality of eye movement Abnormality of the eye Breast aplasia Hypoplasia of the uterus Osteopenia Delayed skeletal maturation Nasal polyposis Prominent eyelashes Chorioretinal dystrophy


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