ORPHA:3157
Septo-optic dysplasia spectrum
Synonyms: De Morsier syndrome · SOD · Septo-optic dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Septo-optic dysplasia spectrum | De Morsier syndrome · SOD · Septo-optic dysplasia |
| fr | Spectre de dysplasie septo-optique | DSO · Dysplasie septo-optique · SOD · Syndrome de De Morsier |
| de | Septo-optische Dysplasie-Spektrum | De-Morsier-Syndrom · Dysplasie, septo-optische · SOD |
| es | Espectro de la displasia septo-óptica | Displasia septo-óptica · SOD · Síndrome de De Morsier |
| it | Spettro della displasia setto-ottica | Displasia setto-ottica · SOD · Sindrome di De Morsier |
| nl | Septo-optische dysplasie-spectrum | SOD · Septo-optische dysplasie · Syndroom van De Morsier |
| pt | Espectro clínico de displasia septo-óptica | Síndrome De Morsier |
| pl | Spektrum dysplazji przegrodowo-ocznej | Dysplazja przegrodowo-oczna · SOD · Zespół De Morsiera |
| cs | Septooptická dysplázie | SOD · Spektrum septooptické dysplázie · De Morsierův syndrom |
| uk | Спектр септо-оптичної дисплазії | Синдром де Морсьє · Септо-оптична дисплазія · SOD |
| zh | 透明隔-视神经发育不良疾病谱 | 透明隔-视神经发育不良 |
| tr | Septo-optik displazi spektrumu | SOD · De Morsier sendromu · Septo-optik displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182230 | E | validated | |
| ICD-10 | Q04.4 | E | specific | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0008428 | E | validated | |
| MeSH | D025962 | E | validated | |
| UMLS | C0338503 | E | validated | |
| GARD | 7627 | E | validated | |
| MedDRA | 10067159 | 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 (6):
- ORPHA:95495Disease associated with non-acquired combined pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders - ORPHA:137905Syndromic optic nerve hypoplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1102Anophthalmia-hypothalamo-pituitary insufficiency syndrome moved to · inactive
- ORPHA:1678Dincsoy-Salih-Patel syndrome moved to · inactive
- ORPHA:2243Hypopituitarism-micropenis-cleft lip/palate syndrome moved to · inactive
- ORPHA:2244Hypopituitarism-microphthalmia syndrome moved to · inactive
- ORPHA:93943Corpus callosum dysgenesis-hypopituitarism syndrome moved to · inactive
- ORPHA:370006Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome moved to · inactive
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARNT2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16876 | ENSG00000172379 | 606036 | 15q25.1 | aryl hydrocarbon receptor nuclear translocator 2 | 24022475[PMID] |
| FGFR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 22319038[PMID] |
| HESX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4877 | ENSG00000163666 | 601802 | 3p14.3 | HESX homeobox 1 | 17587179[PMID]_19623216[PMID]_21396578[PMID]_24802313[PMID] |
| OTX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8522 | ENSG00000165588 | 600037 | 14q22.3 | orthodenticle homeobox 2 | 21396578[PMID]_24802313[PMID] |
| PROKR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15836 | ENSG00000101292 | 607123 | 20p12.3 | prokineticin receptor 2 | 22319038[PMID] |
| SOX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11195 | ENSG00000181449 | 184429 | 3q26.33 | SRY-box transcription factor 2 | 17587179[PMID]_19623216[PMID]_21396578[PMID]_24802313[PMID] |
| SOX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11199 | ENSG00000134595 | 313430 | Xq27.1 | SRY-box transcription factor 3 | 17587179[PMID]_21396578[PMID]_24802313[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
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
33 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0100842 | Septo-optic dysplasia | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000639 | Nystagmus | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000458 | Anosmia | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000717 | Autism | |
| HP:0002019 | Constipation | |
| HP:0000873 | Diabetes insipidus | |
| HP:0000958 | Dry skin | |
| HP:0002032 | Esophageal atresia | |
| HP:0012378 | Fatigue | |
| HP:0001263 | Global developmental delay | |
| HP:0000966 | Hypohidrosis | |
| HP:0001249 | Intellectual disability | |
| HP:0009800 | Maternal diabetes | |
| HP:0001513 | Obesity | |
| HP:0001959 | Polydipsia | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002360 | Sleep abnormality | |
| HP:0002575 | Tracheoesophageal fistula | |
Run the differential on the 3 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3157
- This record as JSON: /data/d/3157.json