ORPHA:220386
Semilobar 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 fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Semilobar holoprosencephaly | |
| fr | Holoprosencéphalie semi-lobaire | |
| de | Holoprosenzephalie, semilobäre | |
| es | Holoprosencefalia semilobar | |
| it | Oloprosencefalia semilobare | |
| nl | Semilobaire holoprosencefalie | |
| pt | Holoprosencefalia semilobar | |
| pl | Holoprosencefalia semilobarna | |
| cs | Semilobární holoprosencefalie | |
| uk | Напівлобарна голопрозенцефалія | |
| zh | 前脑无裂畸形 | |
| tr | Semilobar holoprosensefali |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 157170 | NTBT | validated | |
| OMIM | 301043 | NTBT | validated | |
| OMIM | 609637 | NTBT | validated | |
| OMIM | 610829 | NTBT | validated | |
| ICD-10 | Q04.2 | NTBT | attributed | validated |
| ICD-11 | LA05.2 | NTBT | index | validated |
| UMLS | C0751617 | 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
18 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMC1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11111 | ENSG00000072501 | 300040 | Xp11.22 | structural maintenance of chromosomes 1A | 31334757[PMID] |
| STAG2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11355 | ENSG00000101972 | 300826 | Xq25 | STAG2 cohesin complex component | 31334757[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 | |
| FGFR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 27363716[PMID] |
| 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 | 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
72 annotations · validated 2020-06-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0000601 | Hypotelorism | |
| HP:0002033 | Poor suck | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0012285 | Abnormal hypothalamus physiology | |
| HP:0040327 | Abnormal morphology of the olfactory bulb | |
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0011442 | Abnormality of central motor function | |
| HP:0002270 | Abnormality of the autonomic nervous system | |
| HP:0001344 | Absent speech | |
| HP:0000739 | Anxiety | |
| HP:0000741 | Apathy | |
| HP:0010654 | Aplasia of the falx cerebri | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0000193 | Bifid uvula | |
| HP:0002871 | Central apnea | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0006528 | Chronic lung disease | |
| HP:0000175 | Cleft palate | |
| HP:0002019 | Constipation | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000716 | Depression | |
| HP:0002015 | Dysphagia | |
| HP:0008947 | Floppy infant | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000218 | High palate | |
| HP:0002540 | Inability to walk | |
| HP:0001249 | Intellectual disability | |
| HP:0000737 | Irritability | |
| HP:0001254 | Lethargy | |
| HP:0002451 | Limb dystonia | |
| HP:0000161 | Median cleft lip | |
| HP:0000252 | Microcephaly | |
| HP:0045005 | Neural tube defect | |
| HP:0007301 | Oromotor apraxia | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0006979 | Sleep-wake cycle disturbance | |
| HP:0001257 | Spasticity | |
| HP:0001328 | Specific learning disability | |
| HP:0005968 | Temperature instability | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0031860 | Abnormal heart rate variability | |
| HP:0040064 | Abnormality of limbs | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0008936 | Axial hypotonia | |
| HP:0011787 | Central hypothyroidism | |
| HP:0009914 | Cyclopia | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000873 | Diabetes insipidus | |
| HP:0001371 | Flexion contracture | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002827 | Hip dislocation | |
| HP:0000238 | Hydrocephalus | |
| HP:0000256 | Macrocephaly | |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract | |
| HP:0000871 | Panhypopituitarism | |
| HP:0002465 | Poor speech | |
| HP:0012806 | Proboscis | |
| HP:0002650 | Scoliosis | |
| HP:0006315 | Single median maxillary incisor | |
| HP:0009932 | Single naris | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 30182446[PMID]_20301702[PMID]_30182444[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/220386
- This record as JSON: /data/d/220386.json