ORPHA:2896
Pitt-Hopkins syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pitt-Hopkins syndrome | |
| fr | Syndrome de Pitt-Hopkins | |
| de | Pitt-Hopkins-Syndrom | |
| es | Síndrome de Pitt Hopkins | |
| it | Sindrome di Pitt-Hopkins | |
| nl | Syndroom van Pitt-Hopkins | |
| pt | Síndrome Pitt-Hopkins | |
| pl | Zespół Pitta i Hopkinsa | |
| cs | Pittův-Hopkinsův syndrom | Pitt-Hopkinsův syndrom |
| uk | Синдром Пітта-Хопкінса | |
| zh | 皮特-霍普金斯综合征 | |
| tr | Pitt-Hopkins sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610954 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0012589 | E | validated | |
| MeSH | C537403 | E | validated | |
| UMLS | C1970431 | E | validated | |
| GARD | 4372 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TCF4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11634 | ENSG00000196628 | 602272 | 18q21.2 | transcription factor 4 | 22934316[PMID] |
| TCF4 | Role in the phenotype of | Assessed | HGNC:11634 | ENSG00000196628 | 602272 | 18q21.2 | transcription factor 4 | 30450687[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET_[EXPERT]_30677142[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
69 annotations · validated 2018-01-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011039 | Abnormal helix morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0002381 | Aphasia | |
| HP:0000483 | Astigmatism | |
| HP:0001251 | Ataxia | |
| HP:0011300 | Broad fingertip | |
| HP:0000280 | Coarse facial features | |
| HP:0002019 | Constipation | |
| HP:0000490 | Deeply set eye | |
| HP:0010529 | Echolalia | |
| HP:0100633 | Esophagitis | |
| HP:0006352 | Failure of eruption of permanent teeth | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0040019 | Finger clinodactyly | |
| HP:0000293 | Full cheeks | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0002036 | Hiatus hernia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000252 | Microcephaly | |
| HP:0002300 | Mutism | |
| HP:0000545 | Myopia | |
| HP:0000341 | Narrow forehead | |
| HP:0011833 | Overhanging nasal tip | |
| HP:0001763 | Pes planus | |
| HP:0008081 | Pes valgus | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0010743 | Short metatarsal | |
| HP:0000470 | Short neck | |
| HP:0000322 | Short philtrum | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0002360 | Sleep abnormality | |
| HP:0200055 | Small hand | |
| HP:0001328 | Specific learning disability | |
| HP:0001182 | Tapered finger | |
| HP:0012471 | Thick vermilion border | |
| HP:0000391 | Thickened helices | |
| HP:0000692 | Tooth malposition | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0001344 | Absent speech | |
| HP:0001063 | Acrocyanosis | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002066 | Gait ataxia | |
| HP:0002883 | Hyperventilation | |
| HP:0001786 | Narrow foot | |
| HP:0001250 | Seizure | |
| HP:0010535 | Sleep apnea | |
| HP:0002472 | Small cerebral cortex | |
| HP:0000486 | Strabismus | |
| HP:0000451 | Triangular nasal tip | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0000028 | Cryptorchidism | |
| HP:0040082 | Happy demeanor | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000054 | Micropenis | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002650 | Scoliosis | |
| HP:0100716 | Self-injurious behavior | |
| HP:0002558 | Supernumerary nipple | |
| Very rare (<4-1%) | ||
| HP:0002251 | Aganglionic megacolon | |
| HP:0012189 | Hodgkin lymphoma | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 18222743[PMID]_21671391[PMID]_18728071[PMID]_22045651[PMID]_16531728[PMID]_18781613[PMID]_728011[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2896
- This record as JSON: /data/d/2896.json