HH25
MCID: HYP865
MIFTS: 18

Hypogonadotropic Hypogonadism 25 with Anosmia (HH25)

Categories: Genetic diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 25 with Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 25 with Anosmia:

Name: Hypogonadotropic Hypogonadism 25 with Anosmia 56 6
Hh25 56

Characteristics:

OMIM:

56
Miscellaneous:
variable expressivity
incomplete penetrance

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 56 618841
OMIM Phenotypic Series 56 PS147950

Summaries for Hypogonadotropic Hypogonadism 25 with Anosmia

OMIM : 56 Hypogonadotropic hypogonadism-25 with anosmia (HH25) is characterized by delayed or absent puberty with low gonadotropic hormones in the setting of low testosterone or estradiol. Affected individuals also exhibit hyposmia or anosmia, with hypoplastic olfactory bulbs on MRI. Intrafamilial variable expressivity and incomplete penetrance has been observed (Messina et al., 2020). For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950. (618841)

MalaCards based summary : Hypogonadotropic Hypogonadism 25 with Anosmia, is also known as hh25. An important gene associated with Hypogonadotropic Hypogonadism 25 with Anosmia is NDNF (Neuron Derived Neurotrophic Factor). Affiliated tissues include olfactory bulb, bone and heart.

Related Diseases for Hypogonadotropic Hypogonadism 25 with Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 25 with Anosmia

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism
small prepubertal testes

Genitourinary External Genitalia Male:
micropenis

Skeletal:
delayed bone age

Endocrine Features:
delayed or absent puberty
low testosterone
low follicle-stimulating hormone (fsh)
low luteinizing hormone (lh)
undetectable estradiol

Growth Height:
delayed or absent pubertal growth spurt

Genitourinary Internal Genitalia Female:
primary amenorrhea
small ovaries
small unestrogenized uterus

Head And Neck Nose:
anosmia
hyposmia
olfactory bulb hypoplasia

Skin Nails Hair Hair:
scant pubic hair
scant axillary hair

Chest Breasts:
delayed breast development

Clinical features from OMIM:

618841

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 25 with Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 25 with Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 25 with Anosmia

Anatomical Context for Hypogonadotropic Hypogonadism 25 with Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 25 with Anosmia:

40
Olfactory Bulb, Bone, Heart, Breast, Ovary, Uterus, Testes

Publications for Hypogonadotropic Hypogonadism 25 with Anosmia

Articles related to Hypogonadotropic Hypogonadism 25 with Anosmia:

(show all 24)
# Title Authors PMID Year
1
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism. 56 6
31883645 2020
2
Organ Dynamics and Hemodynamic of the Whole HH25 Avian Embryonic Heart, Revealed by Ultrasound Biomicroscopy, Boundary Tracking, and Flow Simulations. 61
31792224 2019
3
Origin of acoustic-vestibular ganglionic neuroblasts in chick embryos and their sensory connections. 61
31396696 2019
4
Fluid dynamics and forces in the HH25 avian embryonic outflow tract. 61
30810888 2019
5
Organ Dynamics and Fluid Dynamics of the HH25 Chick Embryonic Cardiac Ventricle as Revealed by a Novel 4D High-Frequency Ultrasound Imaging Technique and Computational Flow Simulations. 61
28744840 2017
6
MicroRNA processing machinery in the developing chick embryo. 61
25266146 2014
7
Effect of FGFR inhibitors on chicken limb development. 61
25280231 2014
8
Role of myosin Va in neuritogenesis of chick dorsal root ganglia nociceptive neurons. 61
24302658 2014
9
Versican knockdown reduces interzone area during early stages of chick synovial joint development. 61
22190409 2012
10
Quantification of embryonic atrioventricular valve biomechanics during morphogenesis. 61
22169154 2012
11
Isolation and culture of avian embryonic valvular progenitor cells. 61
21085095 2010
12
Transitions in early embryonic atrioventricular valvular function correspond with changes in cushion biomechanics that are predictable by tissue composition. 61
17478728 2007
13
Immunolocalization of chick periostin protein in the developing heart. 61
15803479 2005
14
Coronary artery and orifice development is associated with proper timing of epicardial outgrowth and correlated Fas-ligand-associated apoptosis patterns. 61
15705966 2005
15
The keratocan gene is expressed in both ocular and non-ocular tissues during early chick development. 61
12935817 2003
16
Transient expression of TIP60 protein during early chick heart development. 61
11891991 2002
17
The avian griseum tectale: cytoarchitecture, NOS expression and neurogenesis. 61
11922988 2002
18
Distribution of antigen epitopes shared by nerves and the myocardium of the embryonic chick heart using different neuronal markers. 61
11074398 2000
19
Resistance of three immortalized human hepatocyte cell lines to acetaminophen and N-acetyl-p-benzoquinoneimine toxicity. 61
10580581 1999
20
Smooth muscle cells and fibroblasts of the coronary arteries derive from epithelial-mesenchymal transformation of the epicardium. 61
10195310 1999
21
Behavior of a cell line derived from normal human hepatocytes on non-physiological and physiological-type substrates: evidence for enhancement of secretion of liver-specific proteins by a three-dimensional growth pattern. 61
10475252 1999
22
The development of the coronary vessels and their differentiation into arteries and veins in the embryonic quail heart. 61
9056638 1997
23
In normal development pulmonary veins are connected to the sinus venosus segment in the left atrium. 61
8540635 1995
24
Characterization of human hepatocyte lines derived from normal liver tissue. 61
7514562 1994

Variations for Hypogonadotropic Hypogonadism 25 with Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 25 with Anosmia:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDNF NM_024574.4(NDNF):c.184A>T (p.Lys62Ter)SNV Pathogenic 834069 4:121966809-121966809 4:121045654-121045654
2 NDNF NM_024574.4(NDNF):c.381del (p.Tyr128fs)deletion Pathogenic 834070 4:121958745-121958745 4:121037590-121037590
3 NDNF NM_024574.4(NDNF):c.1406G>A (p.Trp469Ter)SNV Pathogenic 834071 4:121957720-121957720 4:121036565-121036565

Expression for Hypogonadotropic Hypogonadism 25 with Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 25 with Anosmia.

Pathways for Hypogonadotropic Hypogonadism 25 with Anosmia

GO Terms for Hypogonadotropic Hypogonadism 25 with Anosmia

Sources for Hypogonadotropic Hypogonadism 25 with Anosmia

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