ORPHA:280195
Septopreoptic holoprosencephaly
Synonyms: Septopreoptic HPE
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare subtype of holoprosencephaly characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Midline craniofacial malformations are generally mild and include solitary median maxillary incisor and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Septopreoptic holoprosencephaly | Septopreoptic HPE |
| fr | Holoprosencéphalie septo-préoptique | HPE septo-préoptique |
| de | Holoprosenzephalie, septopräoptische | HPE, septopräoptische |
| es | Holoprosencefalia septopreóptica | HPE septopreóptica |
| it | Oloprosencefalia setto-preottica | HPE setto-preottica |
| nl | Septopreoptische holoprosencefalie | Septopreoptische HPE |
| pt | Holoprosencefalia septo-pre-optica | HPE septo-pre-optica |
| pl | Holoprosencefalia przegrodowo-przedwzrokowa | HPE przegrodowo-przedwzrokowa HPE |
| cs | Septopreoptická holoprosencefalie | Septopreoptická HPE |
| uk | Септопреоптична голопрозенцефалія | Септопреоптичний HPE |
| zh | 视交叉前脑无裂畸形 | 视交叉HPE |
| tr | Septopreoptik holoprozensefali | Septopreoptik HPE |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 157170 | NTBT | validated | |
| OMIM | 609637 | NTBT | validated | |
| OMIM | 610829 | NTBT | validated | |
| ICD-10 | Q04.2 | NTBT | attributed | validated |
| ICD-11 | LA05.2 | NTBT | attributed | validated |
| UMLS | C5679777 | 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 (1):
- ORPHA:2162Holoprosencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare endocrine diseases
No children.
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Genes
15 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDON | Disease-causing germline mutation(s) in | Assessed | HGNC:17104 | ENSG00000064309 | 608707 | 11q24.2 | cell adhesion associated, oncogene regulated | |
| CRIPTO | Disease-causing germline mutation(s) in | Assessed | HGNC:11701 | ENSG00000241186 | 187395 | 3p21.31 | cripto, EGF-CFC family member | |
| DISP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19711 | ENSG00000154309 | 607502 | 1q41 | dispatched RND transporter family member 1 | |
| DLL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2908 | ENSG00000198719 | 606582 | 6q27 | delta like canonical Notch ligand 1 | |
| FGF8 | Disease-causing germline mutation(s) in | Assessed | HGNC:3686 | ENSG00000107831 | 600483 | 10q24.32 | fibroblast growth factor 8 | |
| FOXH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3814 | ENSG00000160973 | 603621 | 8q24.3 | forkhead box H1 | |
| GAS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4165 | ENSG00000180447 | 139185 | 9q21.33 | growth arrest specific 1 | |
| GLI2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4318 | ENSG00000074047 | 165230 | 2q14.2 | GLI family zinc finger 2 | |
| NODAL | Disease-causing germline mutation(s) in | Assessed | HGNC:7865 | ENSG00000156574 | 601265 | 10q22.1 | nodal growth differentiation factor | |
| PTCH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9585 | ENSG00000185920 | 601309 | 9q22.32 | patched 1 | |
| SHH | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | |
| SIX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:10889 | ENSG00000138083 | 603714 | 2p21 | SIX homeobox 3 | |
| STIL | Disease-causing germline mutation(s) in | Assessed | HGNC:10879 | ENSG00000123473 | 181590 | 1p33 | STIL centriolar assembly protein | 29785796[PMID] |
| TGIF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11776 | ENSG00000177426 | 602630 | 18p11.31 | TGFB induced factor homeobox 1 | |
| ZIC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12873 | ENSG00000043355 | 603073 | 13q32.3 | Zic family zinc finger 2 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
24 annotations · validated 2020-06-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0002418 | Abnormality of midbrain morphology | |
| HP:0000830 | Anterior hypopituitarism | |
| HP:0000863 | Central diabetes insipidus | |
| HP:0002474 | Expressive language delay | |
| HP:0001290 | Generalized hypotonia | |
| HP:0100710 | Impulsivity | |
| HP:0001249 | Intellectual disability | |
| HP:0000826 | Precocious puberty | |
| HP:0000736 | Short attention span | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0007375 | Abnormality of the septum pellucidum | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0001680 | Coarctation of aorta | |
| HP:0002015 | Dysphagia | |
| HP:0007330 | Frontoethmoidal encephalocele | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0001355 | Megalencephaly | |
| HP:0000252 | Microcephaly | |
| HP:0012650 | Perisylvian polymicrogyria | |
| HP:0031913 | Rhombencephalosynapsis | |
Annotation source: 20488907[PMID]_32103291[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280195
- This record as JSON: /data/d/280195.json