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Descriptor English: Kallmann Syndrome
Descriptor Spanish: Síndrome de Kallmann
Descriptor Portuguese: Síndrome de Kallmann
Descriptor French: Syndrome de Kallmann
Entry term(s): Anosmic Hypogonadism
Anosmic Hypogonadisms
Anosmic Idiopathic Hypogonadotropic Hypogonadism
Autosomal Dominant Form of Kallmann Syndrome
Autosomal Recessive Form of Kallmann Syndrome
Dysplasia Olfactogenitalis of De Morsier
Hypogonadism, Anosmic
Hypogonadisms, Anosmic
Hypogonadotropic Hypogonadism and Anosmia
Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion)
Hypogonadotropic Hypogonadism-Anosmia Syndrome
Kallmann Syndrome 1
Kallmann Syndrome 2
Kallmann Syndrome 3
Kallmann Syndrome, Type 1, X-linked
Kallmann Syndrome, Type 3, Recessive
Kallmann's Syndrome
Kallmanns Syndrome
Syndrome, Kallmann
Syndrome, Kallmann's
Tree number(s): C12.706.316.096.750
C13.351.875.253.096.750
C16.131.939.316.096.750
C16.320.467
C19.391.119.096.750
C19.391.482.600
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D017436
Scope note: A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Hypogonadism (1966-1992)
Public MeSH Note: 93
History Note: 93
Related: Gonadotropin-Releasing Hormone MeSH
Receptor, Fibroblast Growth Factor, Type 1 MeSH
DeCS ID: 30678
Unique ID: D017436
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1993/01/01
Date of Entry: 1992/05/20
Revision Date: 2013/07/08
Kallmann Syndrome - Preferred
Concept UI M0026453
Scope note A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
Preferred term Kallmann Syndrome
Entry term(s) Anosmic Hypogonadism
Anosmic Hypogonadisms
Anosmic Idiopathic Hypogonadotropic Hypogonadism
Dysplasia Olfactogenitalis of De Morsier
Hypogonadism, Anosmic
Hypogonadisms, Anosmic
Hypogonadotropic Hypogonadism and Anosmia
Hypogonadotropic Hypogonadism-Anosmia Syndrome
Kallmann's Syndrome
Kallmanns Syndrome
Syndrome, Kallmann
Syndrome, Kallmann's
Kallmann Syndrome 1 - Narrower
Concept UI M0472223
Scope note Type 1 is the X-linked form with mutations of gene Kal1 which encodes anosmin-1 protein that plays a key role in the migration of GNRH-containing neurons and olfactory nerves to the HYPOTHALAMUS.
Preferred term Kallmann Syndrome 1
Entry term(s) Kallmann Syndrome, Type 1, X-linked
Kallmann Syndrome 3 - Narrower
Concept UI M0530007
Preferred term Kallmann Syndrome 3
Entry term(s) Autosomal Recessive Form of Kallmann Syndrome
Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion)
Kallmann Syndrome, Type 3, Recessive
Kallmann Syndrome 2 - Narrower
Concept UI M0472224
Scope note Type 2 is an autosomal dominant form with loss-of-function mutations of gene Kal2 which encodes fibroblast growth-factor receptor-1 (FGFR1 PROTEIN).
Preferred term Kallmann Syndrome 2
Entry term(s) Autosomal Dominant Form of Kallmann Syndrome



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