IllnessSeptooptic dysplasia spectrum, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Septooptic Dysplasia spectrum comprising 4 or altogether 16 curated genes according to the clinical signs
ID
SP4657
Number of genes
12
Accredited laboratory test
Examined sequence length
3,8 kb (Core-/Core-canditate-Genes)
23,7 kb (Extended panel: incl. additional genes)
23,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
HESX1 | 558 | NM_003865.3 | AD, AR | |
OTX2 | 870 | NM_172337.3 | AD | |
SOX2 | 954 | NM_003106.4 | AD | |
SOX3 | 1341 | NM_005634.3 | XL | |
ALG13 | 417 | NM_001099922.3 | XL | |
ARNT2 | 2154 | NM_014862.4 | AR | |
FGF8 | 735 | NM_033163.5 | AD | |
FGFR1 | 2469 | NM_023110.3 | AD | |
FLNA | 7920 | NM_001456.4 | XL | |
PAX6 | 1269 | NM_000280.5 | AD | |
PROKR2 | 1155 | NM_144773.4 | AD, AR | |
STAG2 | 3807 | NM_001042749.2 | XL |
Informations about the disease
Clinical Comment
Clinically heterogeneous disorder with classical triad of optic nerve hypoplasia, pituitary hormone abnormalities, midline brain defects. Diagnosis is made with 2 or more features of the triad. 30% of patients have complete manifestations, 62% display hypopituitarism, 60% have an absent septum pellucidum. The disorder is equally prevalent in both sexes, more common in infants born to younger mothers. Often no mutation(s) detected.
Synonyms
- Alias: De Morsier syndrome
- Alias: Webb-Dattani syndrome
- Allelic: Congenital disorder of glycosylation, type Is (ALG13)
- Allelic: Epileptic encephalopathy, early infantile, 36 (ALG13)
- Allelic: Growth hormone deficiency with pituitary anomalies (HESX1)
- Allelic: Hartsfield syndrome (FGFR1)
- Allelic: Heterotopia, periventricular, 1 (FLNA)
- Allelic: Holoprosencephaly 13, XL (STAG2)
- Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
- Allelic: Hypogonadotropic hypogonadism 3 with/-out anosmia (PROKR2)
- Allelic: Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
- Allelic: Mental retardation, XL, with isolated growth hormone deficiency (SOX3)
- Allelic: Microphthalmia, syndromic 3 (SOX2)
- Allelic: Microphthalmia, syndromic 5 (OTX2)
- Allelic: Mullegama-Klein-Martinez syndrome (STAG2)
- Allelic: Mungan syndrome (RAD21)
- Allelic: Optic nerve hypoplasia (PAX6)
- Allelic: Panhypopituitarism, XL (SOX3)
- Allelic: Pituitary hormone deficiency, combined, 5 (HESX1)
- Allelic: Pituitary hormone deficiency, combined, 6 (OTX2)
- Cornelia de Lange syndrome 4 (RAD21)
- Frontotemporal hypoplasia, delayed development, pituitary + hypothalamic insufficiency (ARNT2)
- Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
- Pituitary hormone deficiency [panelapp] (TCF7L1)
- Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
- Schizencephaly [Lit: Septooptic dysplasia] (EMX2)
- Septooptic dysplasia (HESX1)
- Webb-Dattani syndrome (ARNT2)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q04.4
Bioinformatics and clinical interpretation
No text defined