Disease #05198 (KAL (Kallmann syndrome (KAL)))

Official abbreviation KAL
Name Kallmann syndrome (KAL)
OMIM ID -
Inheritance -
Individuals reported having this disease 20
Phenotype entries for this disease 18
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2016-10-21 14:34:27 +02:00 (CEST)
Date last edited N/A


Individuals

20 entries on 1 page. Showing entries 1 - 20.
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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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - KAL - SEMA3A SEMA3A 1 1 Johan den Dunnen
00163781 - PubMed: Bouilly 2018 Caucasian M no - - - - - - KAL, MRMV1 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; 3y-head CT normal - DCC 1 1 Ashley Marsh
00163782 - PubMed: Bouilly 2018 Caucasian M no - - - - - - KAL, MRMV1 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, iInfancy was marked by retarded speech - DCC 1 1 Ashley Marsh
00163783 - PubMed: Bouilly 2018 Indian subcontinent descent F no - - - - - - 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 - - - - - - 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 - - - - - - - KAL, XLI includes Kallman phenotype KAL1, STS STS 1 1 Michel van Geel
00434898 20D2602998 - - M no China East Asia - - - - KAL Micropenis; anosmia; low nose bridge; hearing loss; mild cubitus valgus; metacarpal sign; testicular hypotrophy WDR11 WDR11 1 1 Dongye He
00435425 patient - - M no Poland white - - - none KAL - KAL1 KAL1 1 1 Katarzyna Bilińska
00458112 FamPatIII2 PubMed: Graziani 2024 4-generation family, affected mother/daughter F no Italy;(Italy) - - - - - KAL, WS Hypogonadism, Anosmia, Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Hyposmia, Primary amenorrhea - SOX10 1 2 Ludovico Graziani
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