| Field | Value | Notes / Source |
|---|---|---|
| Disease name | Pitt-Hopkins syndrome (PTHS) | Rare neurodevelopmental disorder characterized by intellectual disability, facial dysmorphism, and abnormal/irregular breathing (pqac-00000001, pqac-00000039) |
| OMIM disease ID | **#610954** | Pitt-Hopkins syndrome OMIM identifier (pqac-00000001, pqac-00000002) |
| Orphanet ID | **ORPHA:2896** | Orphanet/INSERM identifier for Pitt-Hopkins syndrome (pqac-00000039) |
| MONDO ID | **MONDO:0012589** | Open Targets disease mapping for Pitt-Hopkins syndrome (pqac-00000000) |
| ICD-10 | No specific disease-specific ICD-10 code consistently reported in retrieved sources | Often classified under broader rare congenital malformation / intellectual disability coding frameworks; disease-specific code not confirmed in retrieved evidence |
| Causal gene | **TCF4** (transcription factor 4) | Causal gene; TCF4 haploinsufficiency/loss-of-function is the established mechanism (pqac-00000001, pqac-00000031) |
| OMIM gene ID | **\*602272** | OMIM identifier for TCF4 (pqac-00000001, pqac-00000002) |
| Chromosomal location | **18q21.2** | TCF4 locus on chromosome 18q21.2 (pqac-00000002, pqac-00000032) |
| Inheritance pattern | **Autosomal dominant** | Usually due to monoallelic pathogenic variants/deletions in TCF4 (pqac-00000031) |
| Typical mutational origin | **Usually de novo** | Most cases arise from de novo variants; rare parental mosaicism reported (pqac-00000031) |
| Molecular mechanism | **TCF4 haploinsufficiency** | Can result from deletions, truncating variants, or loss-of-function missense variants, especially in the bHLH domain (pqac-00000001, pqac-00000007, pqac-00000031) |
| Open Targets associated target | **TCF4** (primary) | Strongest disease-target association in Open Targets; secondary weaker association reported for H1-4 (pqac-00000000) |
| Prevalence estimate 1 | **~1 in 225,000-300,000** | Estimate cited from UK/Netherlands data in recent cohort literature (pqac-00000001) |
| Prevalence estimate 2 | **~1 in 34,000-41,000 births** | Estimate cited in review literature; reflects ascertainment differences across sources (pqac-00000031) |
| Sex distribution | Affects males and females | No clear sex bias reported; boys and girls appear equally affected (pqac-00000034) |
| Data type represented here | Aggregated disease-level resource + cohort literature | Information synthesized from disease databases/reviews and cohort studies rather than individual EHR-only data (pqac-00000001, pqac-00000031, pqac-00000039) |


*Table: This table summarizes the core identifiers and defining characteristics of Pitt-Hopkins syndrome, including disease and gene IDs, inheritance, locus, and prevalence. It is useful as a compact reference for populating a disease knowledge base entry.*