ORPHA:439822
PDE4D haploinsufficiency syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PDE4D haploinsufficiency syndrome | |
| fr | Syndrome par haploinsuffisance de PDE4D | |
| de | PDE4D-Haploinsuffizienz-Syndrom | |
| es | Síndrome por haploinsuficiencia de PDE4D | |
| it | Sindrome da aploinsufficienza PDE4D | |
| nl | Syndroom door PDE4D-haploinsufficiëntie | |
| pt | Síndrome de haploinsuficiência PDE4D | |
| pl | Zespół haplinsuficjencji PDE4D | |
| cs | Syndrom PDE4D haploinsuficience | |
| uk | Синдром гаплонедостатності PDE4D | |
| zh | PDE4D单倍剂量不足综合征 | |
| tr | PDE4D haployetmezlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615668 | ND | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014298 | E | validated | |
| UMLS | C5681186 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDE4D | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8783 | ENSG00000113448 | 600129 | 5q11.2-q12.1 | phosphodiesterase 4D | 24203977[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 24203977[PMID]_21594994[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24203977[PMID]_21594994[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.
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HPO phenotypes
60 annotations · validated 2019-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0001769 | Broad foot | |
| HP:0010055 | Broad hallux | |
| HP:0001230 | Broad metacarpals | |
| HP:0001783 | Broad metatarsal | |
| HP:0006009 | Broad phalanx | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0012368 | Flat face | |
| HP:0001249 | Intellectual disability | |
| HP:0000272 | Malar flattening | |
| HP:0010049 | Short metacarpal | |
| HP:0010743 | Short metatarsal | |
| HP:0003196 | Short nose | |
| HP:0009803 | Short phalanx of finger | |
| HP:0001831 | Short toe | |
| Frequent (79-30%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0000280 | Coarse facial features | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000303 | Mandibular prognathia | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000322 | Short philtrum | |
| Occasional (29-5%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000729 | Autistic behavior | |
| HP:0010665 | Bilateral coxa valga | |
| HP:0000248 | Brachycephaly | |
| HP:0000283 | Broad face | |
| HP:0008457 | Caudal interpedicular narrowing | |
| HP:0000028 | Cryptorchidism | |
| HP:0003165 | Elevated circulating parathyroid hormone level | |
| HP:0000565 | Esotropia | |
| HP:0002007 | Frontal bossing | |
| HP:0000365 | Hearing impairment | |
| HP:0000540 | Hypermetropia | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0000601 | Hypotelorism | |
| HP:0002615 | Hypotension | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0003301 | Irregular vertebral endplates | |
| HP:0001382 | Joint hypermobility | |
| HP:0002003 | Large forehead | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001513 | Obesity | |
| HP:0001763 | Pes planus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0005274 | Prominent nasal tip | |
| HP:0000448 | Prominent nose | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0002684 | Thickened calvaria | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0009824 | Upper limb undergrowth | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24203977[PMID]_28515031[PMID]_30006632[PMID]_21594994[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/439822
- This record as JSON: /data/d/439822.json