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Septo-optic dysplasia
1 OMIM reference -
6 associated genes
186 connected diseases
34 signs/symptoms
Disease Type of connection
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Combined pituitary hormone deficiencies, genetic forms
Isolated anophthalmia - microphthalmia
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
46,XX testicular disorder of sex development
Agnathia - holoprosencephaly - situs inversus
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Giant cell glioblastoma
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Myeloid neoplasm associated with FGFR1 rearrangement
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Pituitary stalk interruption syndrome
Syndromic microphthalmia type 5
X-linked congenital generalized hypertrichosis
X-linked intellectual deficit with isolated growth hormone deficiency
Precursor B-cell acute lymphoblastic leukemia
Peters anomaly
Coffin-Siris syndrome
Autosomal agammaglobulinemia
X-linked non-syndromic intellectual deficit
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Essential thrombocythemia
Hepatocellular carcinoma, childhood-onset
Isolated brachycephaly
Isolated scaphocephaly
Myelofibrosis with myeloid metaplasia
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
WAGR syndrome
46,XY complete gonadal dysgenesis
17q12 microdeletion syndrome
Classic Mayer-Rokitansky-Küster-Hauser syndrome
MURCS association
SHORT syndrome
Coffin-Lowry syndrome
Atypical teratoid tumor
CHARGE syndrome
Familial multiple meningioma
Familial rhabdoid tumor
Neurofibromatosis type 3
Omenn syndrome
Spinocerebellar ataxia type 1
Dedifferentiated liposarcoma
Familial melanoma
Well-differentiated liposarcoma
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
12p12.1 microdeletion syndrome
3M syndrome
Acrocallosal syndrome
Acrodysostosis with multiple hormone resistance
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Anauxetic dysplasia
Atypical Rett syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hypophosphatemic rickets
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal recessive primary microcephaly
Axenfeld anomaly
Axenfeld-Rieger syndrome
B-cell chronic lymphocytic leukemia
Budd-Chiari syndrome
Carney complex
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Congenital fibrosis of extraocular muscles
Congenital mesoblastic nephroma
Cornelia de Lange syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Developmental and speech delay due to SOX5 deficiency
Distal hereditary motor neuropathy type 2
Distal myopathy, Welander type
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Familial atrial myxoma
Familial gastric cancer
Familial isolated dilated cardiomyopathy
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Familial thrombocytosis
Frontonasal dysplasia with alopecia and genital anomaly
Fuchs endothelial corneal dystrophy
Gastric linitis plastica
Greig cephalopolysyndactyly syndrome
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Helicoid peripapillary chorioretinal degeneration
Hypercalcemic tumoral calcinosis
Hyperparathyroidism - jaw tumor syndrome
Hypotonia with lactic acidemia and hyperammonemia
Intellectual deficit - sparse hair - brachydactyly
Intellectual deficit, X-linked - psychosis - macroorchidism
Isolated ATP synthase deficiency
Isolated delta-storage pool disease
Isolated plagiocephaly
Lethal congenital contracture syndrome type 2
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Lissencephaly due to TUBA1A mutation
Mowat-Wilson syndrome due to a point mutation
Mowat-Wilson syndrome due to monosomy 2q22
Muscular dystrophy, Selcen type
Myelodysplastic syndromes
Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys
Pallister-Hall syndrome
Papillary or follicular thyroid carcinoma
Parathyroid carcinoma
Parietal foramina
Polycythemia vera
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Pontocerebellar hypoplasia type 2
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Posterior polymorphous corneal dystrophy
Potocki-Shaffer syndrome
Precursor T-cell acute lymphoblastic leukemia
Primary biliary cirrhosis
Primary pigmented nodular adrenocortical disease
Progressive cerebello-cerebral atrophy
Rett syndrome
Rieger anomaly
Saethre-Chotzen syndrome
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe neonatal-onset encephalopathy with microcephaly
Simpson-Golabi-Behmel syndrome
Sudden infant death - dysgenesis of the testes
Townes-Brocks syndrome
Trisomy Xq28
Ulnar-mammary syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Alobar holoprosencephaly
Lobar holoprosencephaly
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple synostoses syndrome
Nodulosis-arthropathy-osteolysis syndrome
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Torg-Winchester syndrome
46,XX gonadal dysgenesis
46,XY partial gonadal dysgenesis
Clear cell renal carcinoma
Deafness with labyrinthine aplasia, microtia, and microdontia
Hereditary gingival fibromatosis
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Noonan syndrome
Ocular albinism with congenital sensorineural deafness
Oculootodental syndrome
Otodental syndrome
Papillary renal cell carcinoma
Tietz syndrome
Waardenburg syndrome type 2
Autosomal recessive lymphoproliferative disease
- De Morsier syndrome
- Septo-optic dysplasia spectrum

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D025962

Very frequent
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Septo-optic dysplasia
- Visual loss / blindness / amblyopia

- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Corpus callosum / septum pellucidum total / partial agenesis
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Micropenis / small penis / agenesis
- Nystagmus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes

- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Antenatal exposure : alcohol
- Asthenia / fatigue / weakness
- Autism / autistic disoders
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Congenital cardiac anomaly / malformation / cardiopathy
- Constipation
- Diabetes insipidus
- Dry / squaly skin / exfoliation
- Generalized obesity
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Maternal diabetes
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Sensorineural deafness / hearing loss
- Sleep and vigilance disorders
- Thirst
- Tracheo-esophageal fistula / esophageal atresia / stenosis