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ORPHA:478

Kallmann syndrome

medium confidenceSubtype of disorder

Also known as: Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

3,019

94.7th percentile

Trials

11

Interventional, condition-specific

Researchers

1,081

Distinct authors in sample

Gene link

AXL, SEMA3E, TCF12

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

congenital hypogonadotropic hypogonadism with anosmia · hypogonadotropic hypogonadism with anosmia

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — AXL, SEMA3E, TCF12

  2. LiteraturePresent

    3,019 matched papers (1,585 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    11 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (AXL, SEMA3E, TCF12).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

3,019

3,019 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

3,019 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

1,585 in the last 10 years · medium confidence · 94.7th percentile (publications denominator)

Phrase hits: 3,019 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,081

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Wang X9 papers · 2026

    Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China.

    Papers in Europe PMC
  2. 02
    Zhang J7 papers · 2026

    Department of Pediatric Endocrinology and Genetics, Hangzhou Children's Hospital, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  3. 03
    Zhang Y7 papers · 2026

    Department of Pediatric Endocrinology and Genetics, Hangzhou Children's Hospital, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  4. 04
    Dwyer AA5 papers · 2026

    William F. Connell School of Nursing, Boston College; P50 Massachusetts General Hospital - Harvard Center for Reproductive Medicine, Massachusetts General Hospital, MA, USA. Electronic address: andrew.dwyer@bc.edu.

    Papers in Europe PMC
  5. 05
    Li X5 papers · 2025

    Medical Science Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  6. 06
    Li Y5 papers · 2026

    Department of Pediatrics, the Third Xiangya Hospital, Central South University, Changsha, China.

    Papers in Europe PMC
  7. 07
    Men M5 papers · 2026

    Health Management Center, Xiangya Hospital, Central South University, Changsha, China.

    Papers in Europe PMC
  8. 08
    Wang Y5 papers · 2026

    Department of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao, China.

    Papers in Europe PMC
  9. 09
    Wu X5 papers · 2026

    Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China. wuxueyan@pumch.ac.cn.

    Papers in Europe PMC
  10. 10
    Fukami M4 papers · 2025

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

11 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.1th percentile).

medium confidence · 92.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

11 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

6 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Kallmann syndrome" OR "Congenital hypogonadotropic hypogonadism with anosmia" OR "Olfacto-genital pathological sequence" OR "hypogonadotropic hypogonadism with anosmia"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Kallmann syndrome" OR "Congenital hypogonadotropic hypogonadism with anosmia" OR "Olfacto-genital pathological sequence" OR "hypogonadotropic hypogonadism with anosmia" OR "AXL" OR "SEMA3E" OR "TCF12"

Recall-expansion terms: AXL, SEMA3E, TCF12

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 11 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:58:08.977Z