PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Synonyms: Chung-Jansen syndrome · DIDOD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | Chung-Jansen syndrome · DIDOD |
| fr | Syndrome de troubles de comportement-déficience intellectuelle-obésité-dysmorphie associé à PHIP | |
| de | PHIP-assoziierte Verhaltensstörung-Intelligenzminderung-Adipositas-Dysmorphie-Syndrome | Chung-Jansen-Syndrom |
| es | Síndrome de trastornos de conducta-discapacidad intelectual-obesidad-rasgos dismórficos asociado al gen PHIP | Síndrome de Chung-Jansen |
| it | Sindrome problemi comportamentali, disabilità intellettiva, obesità, dismorfismi correlata a PHIP | Sindrome di Chung-Jansen |
| nl | PHIP-gerelateerd gedragsproblemen - intellectuele achterstand - obesitas - dysmorfe kenmerken-syndroom | Syndroom van Chung-Jansen |
| pt | Síndrome de perturbação comportamental-perturbação do desenvolvimento intelectual-obesidade-dismorfia PHIP-relacionada | DIDOD · Síndrome Chung-Jansen |
| pl | Zespół dysmorficzny z otyłością, niepełnosprawnością intelektualną i problemami behawioralnymi związany z PHIP | Zespół Chung i Jansen |
| cs | Syndrom zahrnující problémy s chováním související s PHIP, mentální retardaci, obezitu a dysmorfické rysy | = en |
| uk | PHIP-повязаний синдром поведінкових проблем-інтелектуальної недостатності-ожиріння- дисморфічних особливостей | Синдром Чанг-Янсена · DIDOD |
| zh | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | Chung-Jansen syndrome |
| tr | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | Chung-Jansen syndrome |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617991 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0035133 | E | validated | |
| UMLS | C4693860 | E | validated | |
| MedDRA | 10090066 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98033Rare neurologic disease with psychiatric involvement
rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PHIP | Disease-causing germline mutation(s) in | Assessed | HGNC:15673 | ENSG00000146247 | 612870 | 6q14.1 | PHIP subunit of CUL4-Ring ligase complex | 29209020[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 27900362[PMID]_29209020[PMID]_31167805[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27900362[PMID]_29209020[PMID]_31167805[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
38 annotations · validated 2022-10-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0000400 | Macrotia | |
| HP:0012758 | Neurodevelopmental delay | |
| Frequent (79-30%) | ||
| HP:0000539 | Abnormality of refraction | |
| HP:0000463 | Anteverted nares | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000455 | Broad nasal tip | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0012378 | Fatigue | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000348 | High forehead | |
| HP:0000540 | Hypermetropia | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0100710 | Impulsivity | |
| HP:0004324 | Increased body weight | |
| HP:0000343 | Long philtrum | |
| HP:0000664 | Synophrys | |
| HP:0001182 | Tapered finger | |
| HP:0000233 | Thin vermilion border | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0001288 | Gait disturbance | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0002378 | Hand tremor | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000508 | Ptosis | |
| HP:0000403 | Recurrent otitis media | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 31167805[PMID]_29209020[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/589905
- This record as JSON: /data/d/589905.json