| Category | Identifier/Detail | Source |
|---|---|---|
| Disease name | Elsahy-Waters syndrome | (pqac-00000004, pqac-00000001) |
| OMIM disease ID | OMIM: 211380 | (pqac-00000003) |
| MONDO ID | MONDO:0008885 | (pqac-00000000) |
| Synonyms | Branchioskeletogenital syndrome; branchio-skeleto-genital syndrome; BSG syndrome; BSGS | (pqac-00000004, pqac-00000001) |
| Causal gene | CDH11 | (pqac-00000001, pqac-00000000) |
| Gene OMIM ID | OMIM: 600023 | (pqac-00000001) |
| Chromosomal location | 16q21 | (pqac-00000006) |
| Protein | Cadherin-11; OB-cadherin; osteoblast-cadherin | (pqac-00000007, pqac-00000013) |
| Inheritance | Autosomal recessive | (pqac-00000004, pqac-00000005, pqac-00000002) |
| Molecular mechanism | Biallelic loss-of-function variants in CDH11 causing prematurely truncated protein and impaired adhesion | (pqac-00000001, pqac-00000002, pqac-00000008) |
| Reported variant classes | Homozygous nonsense and other truncating variants | (pqac-00000001, pqac-00000003, pqac-00000008) |
| Example pathogenic variant | CDH11 c.127A>T (p.Lys43*) homozygous nonsense variant | (pqac-00000002) |
| Functional consequence | Impaired Ca2+-dependent cell adhesion / reduced cell-substrate adhesion; delayed osteogenic differentiation proposed | (pqac-00000008, pqac-00000017) |
| Relationship to Teebi hypertelorism syndrome | Distinct allelic disorder: heterozygous CDH11 variants cause Teebi hypertelorism syndrome, while biallelic truncating variants cause Elsahy-Waters syndrome | (pqac-00000003, pqac-00000008) |
| Distinguishing clinical-genetic note | Global developmental delay/intellectual disability is emphasized in Elsahy-Waters syndrome and helps distinguish it from many Teebi hypertelorism syndrome cases | (pqac-00000003) |
| Open Targets association | CDH11 is the sole associated target listed for Elsahy-Waters syndrome; association score 0.713 | (pqac-00000000) |
| Reported patients/families through 2018 | Approximately 6 patients from 4 families reported as of 2018 | (pqac-00000016) |
| Additional case after 2018 | First East Asian patient reported in 2021, expanding geographic representation | (pqac-00000000) |


*Table: This table summarizes the core disease identifiers, nomenclature, inheritance, and CDH11-related molecular genetics for Elsahy-Waters syndrome. It is useful as a compact reference for knowledge-base curation and for distinguishing this recessive CDH11 disorder from dominant CDH11-related Teebi hypertelorism syndrome.*