Kallmann Syndrome

Description

Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

Clinical Features

Top most frequent phenotypes and symptoms related to Kallmann Syndrome

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness
  • Muscular hypotonia
  • Cleft palate
  • Cryptorchidism
  • Ptosis
  • Visual impairment

And another 34 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available KALLMANN SYNDROME have a estimated prevalence of 3.75 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Kallmann Syndrome Is also known as congenital hypogonadotropic hypogonadism with anosmia, olfacto-genital pathological sequence.

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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Kallmann Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FGF8 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

FGF8
Specificity
100 %
Genes
5 %
Anosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

PROKR2, PROK2, FGF8, FGFR1, GNRHR, KISS1R, ANOS1
Specificity
86 %
Genes
28 %
Complete Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

TACR3, PROKR2, PROK2, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1R, ANOS1
Specificity
80 %
Genes
37 %
Comprehensive Brain Malformation Panel.

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

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
10 %
Holoprosencephaly.

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

SHH, SIX3, TGIF1, ZIC2, CDON, DISP1, DLL1, FGF8, FOXH1, GAS1, GLI2, NODAL, PTCH1
Specificity
8 %
Genes
5 %
Hypogonadotropic Hypogonadism Sequencing Panel.

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

TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1R, ANOS1, LHB, NR0B1
Specificity
69 %
Genes
60 %
Holoprosencephaly Sequencing Panel.

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

SHH, STIL, SIX3, TGIF1, ZIC2, CDON, FGF8, FGFR1, GLI2, PTCH1
Specificity
20 %
Genes
10 %
Holoprosencephaly Deletion/Duplication Panel.

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

SHH, STIL, SIX3, TGIF1, ZIC2, CDON, FGF8, FGFR1, GLI2, PTCH1
Specificity
20 %
Genes
10 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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