ORPHA:280200
Microform holoprosencephaly
Synonyms: HPE, minor form · HPE-L · Holoprosencephaly, minor form · Holoprosencephaly-like · Microform HPE
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microform holoprosencephaly | HPE, minor form · HPE-L · Holoprosencephaly, minor form · Holoprosencephaly-like · Microform HPE |
| fr | Holoprosencéphalie microforme | HPE microforme · HPE-L · Holoprosencéphalie like |
| de | Holoprosenzephalie, mikroforme | HPE, mikroforme · HPE-L · Mikroform der Holoprosenzephalie |
| es | Holoprosencefalia microforma | HPE microforma · HPE, forma menor · HPE-L · Holoprosencefalia, forma menor · Similar a holoprosencefalia |
| it | Oloprosencefalia microforma | HPE microforma |
| nl | Microforme holoprosencefalie | HPE, lichte vorm · HPE-L · Holoprosencefalie, lichte vorm · Holoprosencefalie-achtig · Microforme HPE |
| pt | Holoprosencefalia microforma | HPE microforma |
| pl | Holoprosencefalia typu mikroform | HPE-L · HPE typu mikroform |
| cs | Mikroforma holoprosencefalie | Mikroforma HPE |
| uk | Мікроформа голопрозенцефалії | Голопрозенцефалія, легка форма · Голопрозенцефалоподібні · HPE, мінорна форма · HPE-L · Мікроформа HPE |
| zh | 微缩型前脑无裂畸形 | 微型前脑无裂畸形 |
| tr | Mikroform holoprozensefali | HPE-L · Mikroform HPE · HPE, minör form · Holoprozensefali-benzeri · Holoprozensefali, minör form |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 147250 | BTNT | validated | |
| OMIM | 157170 | NTBT | validated | |
| OMIM | 609637 | NTBT | validated | |
| OMIM | 610829 | NTBT | validated | |
| ICD-10 | Q04.2 | NTBT | attributed | validated |
| ICD-11 | LA05.2 | NTBT | index | validated |
| MONDO | 0017219 | E | validated | |
| UMLS | C5393309 | 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:268926Midline cerebral malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2286OBSOLETE: Solitary median maxillary central incisor syndrome referred to · inactive
- ORPHA:162521OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly referred to · inactive
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Genes
16 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR1 | Candidate gene tested in | Not yet assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 27363716[PMID] |
| SUFU | Candidate gene tested in | Not yet assessed | HGNC:16466 | ENSG00000107882 | 607035 | 10q24.32 | SUFU negative regulator of hedgehog signaling | 27363716[PMID] |
| 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 | 11471164[PMID] |
| SIX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:10889 | ENSG00000138083 | 603714 | 2p21 | SIX homeobox 3 | |
| 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 | 1-9 / 100 000 | — | Europe | 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
35 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000453 | Choanal atresia | |
| HP:0010644 | Midnasal stenosis | |
| HP:0006315 | Single median maxillary incisor | |
| Frequent (79-30%) | ||
| HP:0000601 | Hypotelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0001622 | Premature birth | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0010804 | Tented upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000463 | Anteverted nares | |
| HP:0002099 | Asthma | |
| HP:0000175 | Cleft palate | |
| HP:0009914 | Cyclopia | |
| HP:0002247 | Duodenal atresia | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0001028 | Hemangioma | |
| HP:0001360 | Holoprosencephaly | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000821 | Hypothyroidism | |
| HP:0000612 | Iris coloboma | |
| HP:0009800 | Maternal diabetes | |
| HP:0000202 | Orofacial cleft | |
| HP:0000871 | Panhypopituitarism | |
| HP:0000104 | Renal agenesis | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0000486 | Strabismus | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280200
- This record as JSON: /data/d/280200.json