Disease #05198

Official abbreviation KAL
Name Kallmann syndrome (KAL)
OMIM ID -
Inheritance -
Individuals reported having this disease 17
Phenotype entries for this disease 16
Associated with 0 genes -
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Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00081726 - PubMed: Young 2012, Journal: Young 2012 3-generation family, 6 affecteds (3F, 3M), sister/brother (III2), father, grandfather (and his 2 sisters) F;M - France - - 0 - - KAL see paper; ..., hypogonadism, right cryptorchidism, hyposmia, bilateral hypoplasia olfactory bulbs, ... SEMA3A SEMA3A 1 6 Johan den Dunnen
00081727 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 13 affecteds (2F, 11M) F;M - France - - 0 - - KAL - SEMA3A SEMA3A 1 13 Johan den Dunnen
00081728 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - SEMA3A SEMA3A 1 1 Johan den Dunnen
00081729 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 2 affecteds (2M) M - France - - 0 - - KAL - SEMA3A SEMA3A 1 2 Johan den Dunnen
00081730 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - PROKR2, SEMA3A PROKR2, SEMA3A 2 1 Johan den Dunnen
00081731 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - PROKR2, SEMA3A PROKR2, SEMA3A 2 1 Johan den Dunnen
00081732 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - FGFR1, SEMA3A FGFR1, SEMA3A 2 1 Johan den Dunnen
00081733 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected F - France - - 0 - - KAL - PROK2, SEMA3A PROK2, SEMA3A 2 1 Johan den Dunnen
00081734 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - KAL1, SEMA3A KAL1, SEMA3A 2 1 Johan den Dunnen
00081735 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - SEMA3A SEMA3A 1 1 Johan den Dunnen
00081736 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected F - France - - 0 - - KAL - SEMA3A SEMA3A 1 1 Johan den Dunnen
00081737 - PubMed: Hanchate 2012, Journal: Hanchate 2012 targeted sequencing in 386 Kallmann syndrome patients, 1 affected M - France - - 0 - - KAL - SEMA3A SEMA3A 1 1 Johan den Dunnen
00163781 - PubMed: Bouilly 2018 Caucasian M no - - - 0 - - KAL, MRMV-1 Absent puberty Cryptorchidism Micropenis Right inguinal hernia Hypospadias Mild facial asymmetry Right ear hypoplasia Anosmic (< 5th %ile) At age 13, he had absent puberty (testes 1 ml) and hormonal profiling compatible with hypogonadotropic hypogonadism (T<1.0 nmol/l, LH&FSH < 0.5 U/l), Delayed childhood motor milestones - DCC 1 1 Ashley Marsh
00163782 - PubMed: Bouilly 2018 Caucasian M no - - - 0 - - KAL, MRMV-1 Absent puberty Micropenis without cryptorchidism Mental retardation Obesity Glucose intolerance Moderate hypotonia Cavum septum pellucidum, reduced pituitary volume, decreased Rathke’s cyst, olfactory bulb asymmetry Gonadotropines levels were low for minipuberty (LH 0.5 U/l, FSH 0.7 U/l) without dysfunction of other pituitary axes, CMM Infancy was marked by retarded speech - DCC 1 1 Ashley Marsh
00163783 - PubMed: Bouilly 2018 Indian subcontinent descent F no - (not applicable) - - 0 - - KAL Absent puberty despite a normal stature (170 cm) Serum measurement of reproductive hormones showed hypogonadotropic hypogonadism (T < 1 nmol/L, LH < 1 IU/L, FSH < 1 IU/L) Obesity Anosmic Born without cryptorchidism nor micropenis MRI not performed - DCC 1 1 Ashley Marsh
00163784 - PubMed: Bouilly 2018 Caucasian F no - - - 0 - - KAL Absent puberty Anosmic (UPSIT: 13/40, <5th %ile) Primary amenorrhea lack of pubertal development and hormonal profiling revealed undetectable gonadotropins (LH/FSH < 1.0 U/L) in the setting of low estradiol levels (< 60 pmol/L) Bilateral sensorineural hearing loss Osteopenia (hip) Absence of olfactory bulb - DCC 1 1 Ashley Marsh
00207482 - PubMed: Trevisson 2015 Patient with independent mutations affecting the KAL1 and STS genes M - - - - 0 - - KAL, XLI includes Kallman phenotype KAL1, STS STS 1 1 Michel van Geel
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