Hearing impairment, and Osteoporosis

Diseases related with Hearing impairment and Osteoporosis

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


Top matches:

Low match HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA; HH21


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
  • Osteoporosis
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA; HH21

Low match HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18


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
  • Abnormality of the dentition
  • Osteoporosis


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18

Low match HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA; HH19


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
  • Abnormality of the dentition
  • Osteoporosis


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA; HH19

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20


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
  • Osteoporosis
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20

Low match OVARIAN DYSGENESIS 1; ODG1


Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Genetic Heterogeneity of Ovarian DysgenesisEven in its isolated form, 46,XX ovarian dysgenesis is etiologically heterogeneous. See ODG2 (OMIM ), caused by mutation in the BMP15 gene (OMIM ); ODG3 (OMIM ), caused by mutation in the PSMC3IP gene (OMIM ); ODG4 (OMIM ), caused by mutation in the MCMDC1 gene (OMIM ); ODG5 (OMIM ), caused by mutation in the SOHLH1 gene (OMIM ); ODG6 (OMIM ), caused by mutation in the NUP107 gene (OMIM ); and ODG7 (OMIM ), caused by mutation in the MRPS22 gene (OMIM ).See also ovarian dysgenesis with sensorineural deafness, or Perrault syndrome (OMIM ).

OVARIAN DYSGENESIS 1; ODG1 Is also known as gonadal dysgenesis, xx type|xxgd|ovarian dysgenesis, hypergonadotropic, with normal karyotype|ovarian dysgenesis, hypergonadotropic, autosomal recessive|ovarian failure, hypergonadotropic|xx gonadal dysgenesis

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Osteoporosis
  • Amenorrhea


SOURCES: OMIM MENDELIAN

More info about OVARIAN DYSGENESIS 1; ODG1

Low match HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9


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}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Clinodactyly
  • Osteoporosis


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9

Low match HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4


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 autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4

Low match FAMILIAL EXPANSILE OSTEOLYSIS


Familial expansile osteolysis is an autosomal dominant bone dysplasia characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton. There is medullary and cortical expansion of the bone without sclerosis, leading to painful and disabling deformities and tendency to pathologic fracture. Clinical features include onset of conductive hearing loss in childhood, premature loss of teeth, and variably increased serum alkaline phosphatase (summary by Palenzuela et al., 2002 and Elahi et al., 2007).

FAMILIAL EXPANSILE OSTEOLYSIS Is also known as expansile osteolysis, familial|eof|mccabe disease|hereditary expansile polyostotic osteolytic dysplasia|polyostotic osteolytic dysplasia, hereditary expansile|hepod

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Abnormality of the dentition
  • Osteoporosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL EXPANSILE OSTEOLYSIS

Low match OSTEOGENESIS IMPERFECTA, TYPE XII; OI12


Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

Low match 46,XX GONADAL DYSGENESIS


46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

46,XX GONADAL DYSGENESIS Is also known as xx female gonadal dysgenesis|46,xx pure gonadal dysgenesis|46,xx complete gonadal dysgenesis|follicular stimulating hormone-resistant ovaries|hypergonadotropic ovarian dysgenesis|xx-gd|46,xx ovarian dysgenesis|fsh-ro

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about 46,XX GONADAL DYSGENESIS

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

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Hypogonadism Common - Between 50% and 80% cases
Osteopenia Common - Between 50% and 80% cases
Anosmia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the dentition Primary amenorrhea

Rare Symptoms - Less than 30% cases


Increased circulating gonadotropin level Decreased testicular size Mixed hearing impairment Micropenis Progressive hearing impairment Hypogonadotrophic hypogonadism Gonadal dysgenesis Secondary amenorrhea Short stature Recurrent fractures Neoplasm Delayed puberty Prominent supraorbital ridges Wormian bones Increased bone mineral density Increased susceptibility to fractures Narrow mouth Delayed eruption of teeth Facial asymmetry Platyspondyly Pectus carinatum Protruding ear Prominent forehead Abnormality of cardiovascular system morphology Generalized osteoporosis Ambiguous genitalia Dentinogenesis imperfecta Pulmonary fibrosis Osteoporosis of vertebrae Aplasia/hypoplasia of the uterus Aplasia/Hypoplasia of the breasts Streak ovary Decreased serum estradiol Sparse pubic hair Decreased fertility Premature ovarian insufficiency Thoracic platyspondyly Reduced bone mineral density Malar flattening Arachnodactyly Delayed skeletal maturation Abnormality of metabolism/homeostasis Ataxia Microcephaly Midface retrusion Thin bony cortex Motor delay Gynecomastia Conductive hearing impairment Pain Diabetes mellitus Obesity Cryptorchidism Seizures Cleft lip Bowing of the long bones Clinodactyly Dysgerminoma Gonadoblastoma Hypoplasia of the uterus Clitoral hypertrophy Amenorrhea Inability to walk Bone pain Depressed nasal bridge Thickened cortex of long bones High palate Micrognathia Scoliosis Deformed humeral heads Fragile teeth Hydroxyprolinuria Osteopetrosis Osteolysis Premature loss of teeth Pathologic fracture Tibial bowing Hyperostosis Hypercalcemia Elevated alkaline phosphatase Abnormality of secondary sexual hair



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Respiratory insufficiency, related diseases and genetic alterations Feeding difficulties and Smooth philtrum, related diseases and genetic alterations Brachydactyly and Pectus excavatum, related diseases and genetic alterations Generalized hypotonia and Hypertriglyceridemia, related diseases and genetic alterations Flexion contracture and Facial asymmetry, related diseases and genetic alterations Neuroblastoma and Dyspnea, related diseases and genetic alterations Micrognathia and Myopathy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more