Premature Ovarian Failure 11; Pof11

Description

Premature ovarian failure-11 (POF11) is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone (FSH; see {136530}) levels before age 40 years (Qin et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Premature Ovarian Failure 11; Pof11

  • Amenorrhea
  • Premature ovarian insufficiency
  • Secondary amenorrhea
  • Oligomenorrhea
  • Elevated circulating follicle stimulating hormone level

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Premature Ovarian Failure 11; Pof11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
50 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BDNF, RPS6KA3, SCN1A, BRAF, SLC2A1, SLC6A4, SLC9A6, SMC1A, KDM5C, SOS1, CDKL5, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
ERCC6. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ERCC6
Specificity
100 %
Genes
50 %
Pena-Shokeir syndrome type 2 (sequence analysis of ERCC6 gene).

By CGC Genetics (Portugal).

ERCC6
Specificity
100 %
Genes
50 %
Cockayne syndrome B (sequence analysis of ERCC6 gene).

By CGC Genetics (Portugal).

ERCC6
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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