| Phenotype (plain language) | Suggested HPO term(s) | Typical onset/course | Evidence notes | Supporting citation ids |
|---|---|---|---|---|
| Diffuse angiokeratoma / angiokeratoma corporis diffusum | HP:0001056 Angiokeratoma | Adult-onset; chronic; frequency unknown/variable | A hallmark cutaneous feature of Kanzaki disease/Schindler type II; reported as diffuse angiokeratoma or angiokeratoma corporis diffusum in adult patients. Included in Rossor 2024 table and Castro 2019 case description. | (pqac-00000012, pqac-00000017, pqac-00000018) |
| Chronic lymphedema | HP:0001004 Lymphedema | Adult-onset; progressive/chronic; frequency unknown/variable | Castro 2019 describes chronic lymphoedema as a key feature of the adult phenotype and in the reported 68-year-old case. | (pqac-00000000, pqac-00000002, pqac-00000012) |
| Sensorineural hearing loss | HP:0000407 Sensorineural hearing impairment | Adult-onset; chronic; frequency unknown/variable | Recurrently reported in type II/Kanzaki disease; present in the Castro 2019 case and listed in Rossor 2024. | (pqac-00000000, pqac-00000002, pqac-00000012, pqac-00000017, pqac-00000018) |
| Recurrent vertigo | HP:0002321 Vertigo | Adult-onset; episodic/recurrent; frequency unknown/variable | Rossor 2024 lists recurrent vertigo; Castro 2019 notes recurrent vertigo among neurologic manifestations described for type II disease. | (pqac-00000000, pqac-00000012, pqac-00000017, pqac-00000018) |
| Peripheral neuropathy / sensory-motor axonal neuropathy | HP:0009830 Peripheral neuropathy; HP:0003447 Axonal neuropathy | Adult-onset; chronic/progressive; frequency unknown/variable | Type II disease includes peripheral neuropathy; Rossor 2024 specifies sensory-motor axonal neuropathy, while Castro 2019 reports axonal and demyelinating polyneuropathy. | (pqac-00000000, pqac-00000002, pqac-00000012, pqac-00000017, pqac-00000018) |
| White matter abnormalities on brain MRI | HP:0002500 Abnormal cerebral white matter morphology; HP:0007045 Periventricular white matter abnormalities | Adult presentation; course unclear; frequency unknown/variable | Rossor 2024 specifically reports periventricular white matter abnormalities on MRI in Kanzaki disease. | (pqac-00000017, pqac-00000018) |
| Mild cognitive impairment / cognitive decline | HP:0001263 Global developmental delay (not ideal for adults); HP:0100543 Cognitive impairment | Usually adult-onset when present; mild/variable; frequency unknown/variable | Adult type II is described as milder; Makridou 2025 notes mild cognitive decline, and Asadi 2021 notes mild cognitive impairment among typical adult features. | (pqac-00000001, pqac-00000004, pqac-00000013) |
| Lymphadenopathy | HP:0002716 Lymphadenopathy | Adult-onset; chronic/variable; frequency unknown/variable | Makridou 2025 includes lymphadenopathy/lymph node involvement among clinical features of Kanzaki disease. | (pqac-00000001, pqac-00000013) |
| Neurological weakness | HP:0001324 Muscle weakness | Adult-onset; variable; frequency unknown/variable | Asadi 2021 describes neurological weakness as part of the milder adult phenotype. | (pqac-00000004) |
| Recurrent carpal tunnel syndrome / entrapment neuropathy | HP:0009834 Carpal tunnel syndrome | Adult-onset; chronic/recurrent; frequency unknown/variable | Reported in the Castro 2019 case as bilateral carpal tunnel syndrome, likely part of peripheral nerve involvement rather than a universal feature. | (pqac-00000000) |
| Cardiac enlargement / hypertrophy | HP:0001642 Cardiac hypertrophy; HP:0001627 Abnormal cardiac morphology | Adult-onset when present; variable; frequency unknown/variable | Castro 2019 notes that type II disease can include cardiac enlargement; structural variant reviews also associate some NAGA variants with cardiac hypertrophy. | (pqac-00000000, pqac-00000006) |


*Table: This table summarizes the major reported clinical phenotypes of Kanzaki disease (Schindler disease type II), emphasizing adult-onset cutaneous, neurologic, lymphatic, and imaging findings. It is designed to support phenotype curation with suggested HPO mappings and source-linked evidence.*