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ORPHA:478

Kallmann syndrome

medium confidenceSubtype of disorder

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

Publications

7,248

94.4th percentile

Trials

11

Interventional, condition-specific

Researchers

1,081

Distinct authors in sample

Gene link

AXL, SEMA3E, TCF12

Strong

Readiness

5/6

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.”

5/6 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

    7,248 matched papers (4,640 in last 10 years) Source

  3. Phenotype characterisedPresent

    244 HPO annotations (e.g. Hypogonadotropic hypogonadism; Micropenis; Hearing impairment) Source

  4. Animal modelPresent

    7 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

244

Associated phenotypes · MONDO:0018800

  • Hypogonadotropic hypogonadism
  • Micropenis
  • Hearing impairment

Showing 3 of 244 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0018800

CTD chemicals (MyDisease.info)

1 associated chemical · 133 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Vitamin D · marker/mechanism

Pathways: MAPK signaling pathway; Ras signaling pathway; Rap1 signaling pathway; PI3K-Akt signaling pathway; Adherens junction; Signaling pathways regulating pluripotency of stem cells; Regulation of actin cytoskeleton; Pathways in cancer

MyDisease.info · MONDO:0018800

Literature

Is anyone studying this?

7,248

7,248 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,248 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

4,640 in the last 10 years · medium confidence · 94.4th 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 11 September 2026 · last trial check 28 July 2026

11 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.8th percentile).

medium confidence · 92.8th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Kallmann syndrome — check Associations / patient organisations on that page.

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") OR ("AXL syndrome" OR "AXL-related" OR "SEMA3E" OR "SEMA3E syndrome" OR "SEMA3E-related" OR "TCF12" OR "TCF12 syndrome" OR "TCF12-related")

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"

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: ok — strategies attempted: phrase; 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