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This is an old revision of this page, as edited by Neilsmith38 (talk | contribs) at 08:19, 1 March 2018 (→‎Colour blindness: new section). The present address (URL) is a permanent link to this revision, which may differ significantly from the current revision.

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Recent edits. - New genetics section.

I am in the process of updating the page to include more reviews and to keep it in line with MEDRES. I have completed the introduction and symptoms section. I am hoping the fact that this has not been reverted means that it is acceptable.

I am in the process of editing down the genetics section to make that table more readable and include the physical symptoms.

I will have a go at the remaining sections as I go along. A lot of content has been removed today. I hope to replace most of that once I can review it and assign better review references to it.

I am trying to make the article the best I can and to try to achieve as high a status as possible. This is a rare condition and it means a lot for me to be be able to produce accurate information while trying to comply with the Wikipedia regulations.


This is how I am thinking the genetics table should look as a suggestion.

The table comes from this review article: [1] [1]


OMIM Name Gene Locus Clinical features Syndromes Associated Inheritance pattern Prevalence (%)
Template:OMIM2 KAL1 (ANOS1) KAL1 Xp22.3 Bimanual synkinesia & renal agenesis. x-linked 5
Template:OMIM2 KAL2 FGFR1 8p11.23 Cleft lip and / or cleft palate. Septo-optic dysplasia. Skeletal anomomalies. Bimanual synkinesia. Hand / foot malformation. Combined pituitary hormone deficiency. Hartsfield syndrome Autosomal dominant 10
Template:OMIM2 GNRHR GNRHR 4q13.2 Autosomal recessive 6-16
Template:OMIM2 CHD7 CHD7 8q12.2 Congenital hearing loss. Semicircular canal hypoplasia. CHARGE syndrome Autosomal dominant (?) 6
Template:OMIM2 KAL4 PROK2 3p13 Autosomal recessive 3-6
Template:OMIM2 KAL3 PROKR2 20p12.3 Combined pituitary hormone deficiency. Morning Glory syndrome Autosomal recessive 3-6
Template:OMIM2 IL17RD IL17RD 3p14.3 Congenital hearing loss. Autosomal recessive 3
Template:OMIM2 SOX10 SOX10 22q13.1 Congenital hearing loss. Waardenburg syndrome 2
Template:OMIM2 KISS1 KiSS-1 1q32.1 Autosomal recessive 2
Template:OMIM2 KISS1R (GPR54) GPR54 19p13.3 Autosomal recessive 2
Template:OMIM2 FGF8 FGF8 10q24.32 Cleft lip and / or cleft palate. Skeletal anomomolies. Bimanual synkinesia. Combined pituitary hormone deficiency. Autosomal dominant <2
Template:OMIM2 FGF17 FGF17 8p21.3 Dandy-Walker syndrome Autosomal dominant (?) <2
Template:OMIM2 LEP LEP 7q32.1 Early onset of morbid obesity. Autosomal recessive <2
Template:OMIM2 LEPR LEPR 1p31.3 Early onset of morbid obesity. Autosomal recessive <2
Template:OMIM2 PCSK1 PCSK1 5q15 Early onset of morbid obesity. Autosomal recessive <2
Template:OMIM2 FEZF1 FEZF1 7q31.32 Autosomal recessive Rare
Template:OMIM2 CCDC141 CCDC141 2q31.2 Autosomal recessive (?) Rare
Template:OMIM2 SEMA3A SEMA3A 7q21.11 Autosomal dominant Rare
Template:OMIM2 SEMA7A SEMA7A 15q24.1 Autosomal dominant Rare
Template:OMIM2 HS6ST1 HS6ST1 2q14.3 Cleft lip and / or cleft palate. Skeletal anomalies. Autosomal dominant (?) Rare
Template:OMIM2 WDR11 WDR11 10q26.12 Combined pituitary hormone deficiency. Autosomal dominant Rare
Template:OMIM2 NELF (NSMF) NELF 9q34.3 Autosomal dominant (?) Rare
Template:OMIM2 IGSF10 IGSF10 3q24 Autosomal dominant Rare
Template:OMIM2 GNRH1 GNRH1 8p21.2 Autosomal recessive Rare
Template:OMIM2 TAC3 TAC3 12q3 Autosomal recessive Rare
Template:OMIM2 TACR3 TACR3 4q24 Autosomal recessive Rare
Template:OMIM2 OTUD4 OTUD4 4q31.21 Cerebellar ataxia. Gordon Holmes syndrome Autosomal recessive Rare
Template:OMIM2 RNF216 RNF216 7p22.1 Cerebellar ataxia. Gordon Holmes syndrome Autosomal recessive Rare
Template:OMIM2 PNPLA6 PNPLA6 19p13.2 Cerebellar ataxia. Gordon Holmes syndrome Autosomal recessive Rare
Template:OMIM2 AXL AXL 19q13.2 Autosomal dominant (?) NR


Template:OMIM2 FLRT3 FLRT3 20p12.1 Encodes fibronectin-like domain-containing leucine rich transmembrane protein 3. Protein associated with the function of the KAL2 genes (FGFR1 and FGF8) which allows for the migration of both olfactory axons and GnRH releasing neurones during early embryonic development.[2]
Template:OMIM2 DUSP6 DUSP6 12q21.33 Encodes dual specificity phosphate-6. Protein associated with the function of the KAL2 genes (FGFR1 and FGF8) which allows for the migration of both olfactory axons and GnRH releasing neurones during early embryonic development.[2]
Template:OMIM2 SPRY4 SPRY4 5q31.3 Encodes sprouty, Drosphila, homolog of, 4. Protein associated with the function of the KAL2 genes (FGFR1 and FGF8) which allows for the migration of both olfactory axons and GnRH releasing neurones during early embryonic development.[2]
Template:OMIM2 DAX1/NROB1 DAX1 Xp21.2 Encodes a nuclear receptor with no known ligand. Known to be a transcription inhibitor. Mutations in DAX1 are thought to cause X-linked recessive forms of CHH in both males and occasionally females. Known to cause pubertal delay in females.
Regarding layout, I think this is good but prevalence might be more interesting to the average reader than the OMIM index # (for example), so you might want to reconsider the column order. A table can be very helpful for summarizing, just make sure it's not original research - i.e. that it truly reflects the cited source(s). — soupvector (talk) 22:30, 13 January 2018 (UTC)[reply]


.....Thank you. At the moment the table is taken directly verbatim from a review article published last year mentioned at the top of the table, but summarised in another review article I will cite as well. Once the table is finished I will swap over the prevalence and OMIM columns, that sounds a very good idea. I like the idea of being able to clearly see the link between the physical symptoms and specific gene defect. Thank you for your suggestion. Neilsmith38 (talk) 22:36, 13 January 2018 (UTC)[reply]


I have updated the table. Still a few changes to be made though. Work in process.

Neilsmith38 (talk) 08:37, 14 January 2018 (UTC)[reply]

New gene table with symptoms

[1]

[3]


Prevalence (%) OMIM Name Gene Locus Clinical features Syndromes Associated Inheritance pattern
5[1], 5-10[3] Template:OMIM2 KAL1 (ANOS1) KAL1 Xp22.3 Anosmia. Digital synkinesia. Unilateral renal agenesis. High arched palate. x-linked
10[1][3] Template:OMIM2 KAL2 FGFR1 8p11.23 Cleft lip and / or cleft palate. Septo-optic dysplasia. Skeletal anomomalies. Bimanual synkinesia. Hand / foot malformation. Combined pituitary hormone deficiency. Missing teeth. Hartsfield syndrome Autosomal dominant
6-16[1], 5-10[3] Template:OMIM2 GNRHR GNRHR 4q13.2 Autosomal recessive
6[1], 5-10[3] Template:OMIM2 CHD7 CHD7 8q12.2 Congenital hearing loss. Semicircular canal hypoplasia. Missing teeth. Coloboma. Short stature. CHARGE syndrome Autosomal dominant
3-6[1], <2[3] Template:OMIM2 KAL4 PROK2 3p13 Anosmia Autosomal recessive
3-6[1], 5[3] Template:OMIM2 KAL3 PROKR2 20p12.3 Anosmia. Combined pituitary hormone deficiency. Morning Glory syndrome Autosomal recessive
3[1], 2-5[3] Template:OMIM2 IL17RD IL17RD 3p14.3 Anosmia.Congenital hearing loss. Autosomal recessive
2[1], 2-5[3] Template:OMIM2 SOX10 SOX10 22q13.1 Anosmia.Congenital hearing loss. Iris hypopigmentation. Waardenburg syndrome Autosomal dominant
2[1], <2[3] Template:OMIM2 KISS1 KiSS-1 1q32.1 Autosomal recessive
2[1], <2[3] Template:OMIM2 KISS1R (GPR54) GPR54 19p13.3 Autosomal recessive
<2[3] Template:OMIM2 FGF8 FGF8 10q24.32 Anosmia.Cleft lip and / or cleft palate. Skeletal anomomolies. Bimanual synkinesia. Combined pituitary hormone deficiency. Hearing loss. Hand / foot malformation. Autosomal dominant
<2[1], 1 report[3] Template:OMIM2 FGF17 FGF17 8p21.3 Anosmia Dandy-Walker syndrome Autosomal dominant
<2[1] Template:OMIM2 LEP LEP 7q32.1 Early onset of morbid obesity. Autosomal recessive
<2[1] Template:OMIM2 LEPR LEPR 1p31.3 Early onset of morbid obesity. Autosomal recessive
<2[1] Template:OMIM2 PCSK1 PCSK1 5q15 Early onset of morbid obesity. Autosomal recessive
Rare[1], 1 report[3] Template:OMIM2 FEZF1 FEZF1 7q31.32 Anosmia Autosomal recessive
Rare[1], 1 report[3] Template:OMIM2 CCDC141 CCDC141 2q31.2 Anosmia Unknown
Rare[1], <2[3] Template:OMIM2 SEMA3A SEMA3A 7q21.11 Anosmia. Hyposmia Autosomal dominant
1 report[3] Template:OMIM2 SEMA3E SEMA3E 7q21.11 Anosmia. CHARGE syndrome Autosomal dominant
Rare[1] Template:OMIM2 SEMA7A SEMA7A 15q24.1 Autosomal dominant
Rare[1], <2[3] Template:OMIM2 HS6ST1 HS6ST1 2q14.3 Anosmia. Cleft lip and / or cleft palate. Skeletal anomalies. Autosomal dominant
Rare[1], 1 report[3] Template:OMIM2 WDR11 WDR11 10q26.12 Combined pituitary hormone deficiency. Autosomal dominant
Rare[1] Template:OMIM2 NELF (NSMF) NELF 9q34.3 Anosmia Autosomal dominant
Rare[1] Template:OMIM2 IGSF10 IGSF10 3q24 Autosomal dominant
Rare[1], <2[3] Template:OMIM2 GNRH1 GNRH1 8p21.2 Autosomal recessive
Rare[1], <2[3] Template:OMIM2 TAC3 TAC3 12q3 Autosomal recessive
Rare[1], 5[3] Template:OMIM2 TACR3 TACR3 4q24 Autosomal recessive
Rare[1] Template:OMIM2 OTUD4 OTUD4 4q31.21 Cerebellar ataxia. Gordon Holmes syndrome Autosomal recessive
Rare[1] Template:OMIM2 RNF216 RNF216 7p22.1 Cerebellar ataxia. Gordon Holmes syndrome Autosomal recessive
Rare[1] Template:OMIM2 PNPLA6 PNPLA6 19p13.2 Cerebellar ataxia. Gordon Holmes syndrome Autosomal recessive
1 report[3] Template:OMIM2 AXL AXL 19q13.2 Anosmia Unknown
Rare[1] Template:OMIM2 DMXL2 DMXL2 15q21.2 Polyendocrine deficiencies and polyneuropathy. Autosomal recessive
Rare[1] Template:OMIM2 NR0B1 (DAX1) NR0B1 Xp21.2 Adrenal hypoplasia. x-linked
1 report[3] Template:OMIM2 DUSP6 DUSP6 12q21.33 Anosmia Autosomal dominant
1 report[3] Template:OMIM2 POLR3B POLR3B 12q23.3 Autosomal recessive
1 report[3] Template:OMIM2 SPRY4 SPRY4 5q31.3 Autosomal dominant
1 report[3] Template:OMIM2 FLRT3 FLRT3 20p12.1 Anosmia Autosomal dominant
1 report[3] Template:OMIM2 SRA1 SRA1 19q13.33 Unknown
Rare[1] Template:OMIM2 HESX1 HESX1 3p14.3 Septo-optic dysplasia. Combined pituitary hormone deficiency. Autosomal recessive and dominant

References

  1. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah Lima Amato LG, Latronico AC, Gontijo Silveira LF (2017). "Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism". Endocrinol Metab Clin North Am. 46 (2): 283–303. doi:10.1016/j.ecl.2017.01.010. PMID 28476224.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  2. ^ a b c Miraoui H1, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N. (2013). "Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism". Am J Hum Genet. 92 (5): 725–43. doi:10.1016/j.ajhg.2013.04.008. PMC 3644636. PMID 23643382.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: numeric names: authors list (link)
  3. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab Balasubramanian R, Crowley WF Jr (2017). "Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency". SourceGeneReviews® [Internet]. PMID 20301509.

Updates

I have made some updates today. I have revised the genetics table, taking out a lot of references and replacing them with 2 more recent review articles. I have deleted some of the information to condense it down to linking genes to the physical symptoms, estimated prevalence and mode of inheritance.

I think this table is slightly easier to read and might be more informative.

I have kept a copy of the old table with reference which I can revert back if required.

Some of the genes in the table have been listed as rare or having been described in only one case. I have linked to the review article that mentioned them rather than the primary source. I hope this is acceptable in terms of references.

Neilsmith38 (talk) 19:17, 17 January 2018 (UTC)[reply]

Images on Kallmann syndrome

I have started to add a few images to the article to help illustrate certain points.

I was thinking of adding a Wiki Commons image of the Tanner stages of puberty in both males and females to the diagnosis section.

Does anybody have any suggestions of illustrations to use ? I would like a diagram, rather than a photo, showing the symptoms of delayed puberty / hypogonadism. I have seen a few diagrams that would be good but none available under free licence with Wiki Commons that I can see so far.

We used to have a couple of lines on notable patients with Kallmann syndrome (Brian Brett and Jimmy Scott), both of whom have Wiki articles. I was thinking of adding a mention of them into the "History" section of the article. These were deleted in the past by an editor but I think they warrant an inclusion.

Neilsmith38 (talk) 14:56, 18 January 2018 (UTC)[reply]

We don't do "notable patients" unless they are important to the history of the disease as described in reliable sources. They just become magnets for gossip. Jytdog (talk) 16:55, 18 January 2018 (UTC)[reply]

Genetics update.

I have removed the table of genes to its own page Genetics of GnRH deficiency conditions. After suggestions it was looking too technical for the main page I thought it would do better on a page of its own. I thought I would make a bold edit on this one.

There has been a recently published review article that now puts the number of genes up to 30.

I will update that information with the reference as soon as I can.

I am trying to improve the article and make it more readable for people not familiar with the condition, I would like to try to get the article to B standard class at least if I can.

Neilsmith38 (talk) 11:12, 25 February 2018 (UTC)[reply]

Colour blindness

I am not sure about the recent addition about colour blindness. The association between Kallmann syndrome and colour blindness has long been discredited and is not mentioned in any current review articles. One of the articles stated is a primary source and too old to be used as reference.

Septo-optic dysplasia is a known symptom and is already mentioned in the article.

I might revert the reference to colour blindness if a more recent review article is not found that mentions it.

Neilsmith38 (talk) 08:19, 1 March 2018 (UTC)[reply]

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