ORPHA:93924
Lobar holoprosencephaly
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partial) and/or flat nose amongst other features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lobar holoprosencephaly | |
| fr | Holoprosencéphalie lobaire | |
| de | Holoprosenzephalie, lobäre | |
| es | Holoprosencefalia lobar | |
| it | Oloprosencefalia lobare | |
| nl | Lobaire holoprosencefalie | |
| pt | Holoprosencefalia lobar | |
| pl | Holoprozencefalia lobarna | |
| cs | Lobární holoprosencefalie | |
| uk | Лобарна голопрозенцефалія | |
| zh | 脑叶性前脑无裂畸形 | |
| tr | Lober holoprozensefali |
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 | index | validated |
| MONDO | 0019756 | E | validated | |
| UMLS | C0431362 | 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 (1):
- ORPHA:2162Holoprosencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare endocrine diseases
No children.
4
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] |
| 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 |
5
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.
6
HPO phenotypes
72 annotations · validated 2020-06-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011968 | Feeding difficulties | |
| HP:0000601 | Hypotelorism | |
| Frequent (79-30%) | ||
| HP:0012285 | Abnormal hypothalamus physiology | |
| HP:0011442 | Abnormality of central motor function | |
| HP:0002270 | Abnormality of the autonomic nervous system | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000739 | Anxiety | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0006528 | Chronic lung disease | |
| HP:0000175 | Cleft palate | |
| HP:0002019 | Constipation | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000716 | Depression | |
| HP:0000873 | Diabetes insipidus | |
| HP:0001508 | Failure to thrive | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001510 | Growth delay | |
| HP:0000218 | High palate | |
| HP:0001249 | Intellectual disability | |
| HP:0000737 | Irritability | |
| HP:0000161 | Median cleft lip | |
| HP:0002465 | Poor speech | |
| HP:0002033 | Poor suck | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0006979 | Sleep-wake cycle disturbance | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0031860 | Abnormal heart rate variability | |
| HP:0040327 | Abnormal morphology of the olfactory bulb | |
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0040064 | Abnormality of limbs | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000741 | Apathy | |
| HP:0010654 | Aplasia of the falx cerebri | |
| HP:0008936 | Axial hypotonia | |
| HP:0000193 | Bifid uvula | |
| HP:0002871 | Central apnea | |
| HP:0011787 | Central hypothyroidism | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0002015 | Dysphagia | |
| HP:0008947 | Floppy infant | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002827 | Hip dislocation | |
| HP:0000238 | Hydrocephalus | |
| HP:0001254 | Lethargy | |
| HP:0002451 | Limb dystonia | |
| HP:0000256 | Macrocephaly | |
| HP:0000252 | Microcephaly | |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract | |
| HP:0007301 | Oromotor apraxia | |
| HP:0000871 | Panhypopituitarism | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0005968 | Temperature instability | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001344 | Absent speech | |
| HP:0009914 | Cyclopia | |
| HP:0001371 | Flexion contracture | |
| HP:0002540 | Inability to walk | |
| HP:0045005 | Neural tube defect | |
| HP:0012806 | Proboscis | |
| HP:0006315 | Single median maxillary incisor | |
| HP:0009932 | Single naris | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30182446[PMID]_20301702[PMID]_30182444[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93924
- This record as JSON: /data/d/93924.json