Abnormality of the skeletal system, and Primary amenorrhea

Diseases related with Abnormality of the skeletal system and Primary amenorrhea

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Primary amenorrhea that can help you solving undiagnosed cases.


Top matches:

Low match PREMATURE OVARIAN FAILURE 5; POF5


Related symptoms:

  • Primary amenorrhea
  • Premature ovarian insufficiency
  • Secondary amenorrhea


SOURCES: OMIM MESH MENDELIAN

More info about PREMATURE OVARIAN FAILURE 5; POF5

Low match OVARIAN DYSGENESIS 3; ODG3


Related symptoms:

  • Amenorrhea
  • Primary amenorrhea
  • Hypoplasia of the uterus
  • Gonadal dysgenesis


SOURCES: OMIM MENDELIAN

More info about OVARIAN DYSGENESIS 3; ODG3

Low match 46,XY SEX REVERSAL 2; SRXY2


46,XY SEX REVERSAL 2; SRXY2 Is also known as dss|46,xy sex reversal, dax1-related|dosage-sensitive sex reversal

Related symptoms:

  • Intellectual disability
  • Amenorrhea
  • Primary amenorrhea
  • Adrenal insufficiency
  • Gonadal dysgenesis


SOURCES: OMIM MESH MENDELIAN

More info about 46,XY SEX REVERSAL 2; SRXY2

Mendelian

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

Learn more

Other less relevant matches:

Low match OVARIAN DYSGENESIS 5; ODG5


Related symptoms:

  • Short stature
  • Delayed skeletal maturation
  • Amenorrhea
  • Primary amenorrhea
  • Hypoplasia of the uterus


SOURCES: OMIM MENDELIAN

More info about OVARIAN DYSGENESIS 5; ODG5

Low match PREMATURE OVARIAN FAILURE 14; POF14


Related symptoms:

  • Amenorrhea
  • Primary amenorrhea
  • Elevated circulating follicle stimulating hormone level
  • Elevated circulating luteinizing hormone level


SOURCES: OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 14; POF14

Low match OVARIAN DYSGENESIS 6; ODG6


Ovarian dysgenesis-6 is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and absence of ovarian tissue on imaging studies. Males appear to be unaffected (Weinberg-Shukron et al., 2015).

Related symptoms:

  • Amenorrhea
  • Primary amenorrhea
  • Hypoplasia of the uterus
  • Elevated circulating luteinizing hormone level


SOURCES: OMIM MENDELIAN

More info about OVARIAN DYSGENESIS 6; ODG6

Low match 46,XX OVARIAN DYSGENESIS-SHORT STATURE SYNDROME


Related symptoms:

  • Short stature
  • Delayed skeletal maturation
  • Hypogonadism
  • Infertility
  • Amenorrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about 46,XX OVARIAN DYSGENESIS-SHORT STATURE SYNDROME

Low match 46,XY SEX REVERSAL 7; SRXY7


46,XY SEX REVERSAL 7; SRXY7 Is also known as 46,xy sex reversal, partial or complete, dhh-related|gdxym|46,xy gonadal dysgenesis, partial or complete, dhh-related|gonadal dysgenesis, xy, male-limited

Related symptoms:

  • Primary amenorrhea
  • Hypoplasia of the uterus
  • Gonadal dysgenesis
  • Sex reversal
  • Gonadoblastoma


SOURCES: OMIM MENDELIAN

More info about 46,XY SEX REVERSAL 7; SRXY7

Low match PERRAULT SYNDROME 6; PRLTS6


Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Amenorrhea
  • Primary amenorrhea
  • Premature ovarian insufficiency


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 6; PRLTS6

Low match PERRAULT SYNDROME 4; PRLTS4


Perrault syndrome is characterized by premature ovarian failure (POF) in females and by progressive hearing loss in both females and males (summary by Pierce et al., 2013).For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Amenorrhea
  • Primary amenorrhea
  • Progressive hearing impairment


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 4; PRLTS4

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Primary amenorrhea

Symptoms // Phenotype % cases
Amenorrhea Common - Between 50% and 80% cases
Hypoplasia of the uterus Common - Between 50% and 80% cases
Gonadal dysgenesis Uncommon - Between 30% and 50% cases
Premature ovarian insufficiency Uncommon - Between 30% and 50% cases
Delayed skeletal maturation Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormality of the skeletal system and Primary amenorrhea. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Hearing impairment Sensorineural hearing impairment Elevated circulating luteinizing hormone level Short stature Secondary amenorrhea Sex reversal Hypoplasia of the fallopian tube Congenital sensorineural hearing impairment Progressive hearing impairment Severe hearing impairment Abnormality of the uterus Abnormality of the epididymis Infertility Gonadal dysgenesis, male Dysgerminoma Streak ovary Gonadoblastoma Decreased body weight Hypogonadism Elevated circulating follicle stimulating hormone level Adrenal insufficiency Intellectual disability Bicornuate uterus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Vertigo, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more