SOD
MCID: SPT014
MIFTS: 69

Septo-Optic Dysplasia (SOD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Septo-Optic Dysplasia

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NINDS:43 Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.

MalaCards based summary: Septo-Optic Dysplasia, also known as de morsier syndrome, is related to growth hormone deficiency and isolated growth hormone deficiency, and has symptoms including optic nerve anomaly/optic atrophy/anomaly of the papilla, visual loss/blindness/amblyopia and septo-optic dysplasia. An important gene associated with Septo-Optic Dysplasia is HESX1 (HESX homeobox 1), and among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Signaling by FGFR3 mutants. The compounds acth and citrinin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and skin, and related mouse phenotypes are taste/olfaction and no phenotypic analysis.

NIH Rare Diseases:42 Septo-optic dysplasia is a disorder of early brain development. the signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. recurring seizures, delayed development, and abnormal movements may be present in some people with septo-optic dysplasia. although the exact cause of septo-optic dysplasia is unknown, it is believed that both genetic and environmental factors play a role. viruses, medications, and blood flow disruption have all been suggested as possible environmental causes. thus far, three genes (hesx1, otx2, and sox2) have been associated with septo-optic dysplasia. typically, people do not have a family history of septo-optic dysplasia. however, there have been a few cases in which multiple family members have been diagnosed. familial cases may follow an autosomal recessive or autosomal dominant pattern of inheritance. last updated: 7/13/2012

Genetics Home Reference:21 Septo-optic dysplasia is a disorder of early brain development. Although its signs and symptoms vary, this condition is traditionally defined by three characteristic features: underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia.

Wikipedia:65 Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring... more...

Descriptions from OMIM:46 182230,262600,613038,613986

Aliases & Classifications for Septo-Optic Dysplasia

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Sources:
42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43NINDS, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Septo-Optic Dysplasia, Aliases & Descriptions:

Name: Septo-Optic Dysplasia 42 21 43 44 48
De Morsier Syndrome 42 21 44 48 62
Septooptic Dysplasia 42 20 21 46
Sod 42 21 48
Multiple Pituitary Hormone Deficiencies, Genetic Forms 48
Combined Pituitary Hormone Deficiencies, Genetic Forms 48
 
Septo-Optic Dysplasia with Growth Hormone Deficiency 42
Hypopituitarism and Septooptic 'dysplasia' 42
Familial Congenital Hypopituitarism 48
Septo-Optic Dysplasia Spectrum 48
De Morsier's Syndrome 43


Classifications:



Characteristics (Orphanet epidemiological data):

48
septo-optic dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,Sporadic; Age of onset: Neonatal/infancy
multiple pituitary hormone deficiencies, genetic forms:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive


External Ids:

MESH via Orphanet35 D025962
ICD10 via Orphanet26 Q04.8, E23.0
UMLS via Orphanet63 C0338503
ICD1025 Q04.4

Related Diseases for Septo-Optic Dysplasia

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Diseases related to Septo-Optic Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1growth hormone deficiency31.0SOX3, POU1F1, HESX1, PROP1, GH1
2isolated growth hormone deficiency30.9POU1F1, GH1
3hypopituitarism30.9LHX3, SOX3, POU1F1, HESX1, PROP1, GH1
4dwarfism30.6POU1F1, PROP1, GH1, FGFR1
5panhypopituitarism30.5LHX3, GH1, PROP1, HESX1, POU1F1
6holoprosencephaly30.3FGF8, GLI2, PROP1, HESX1, POU1F1, SOX3
7pituitary hypoplasia30.0OTX2, PROP1, LHX3, SOX3, POU1F1, HESX1
8kallmann syndrome29.8HESX1, LHX3, PROP1, PROK2, PROKR2, FGF8
9optic nerve hypoplasia10.7
10schizencephaly10.7
11diabetes insipidus10.5
12cerebritis10.5
13retinitis10.5
14agenesis of the corpus callosum10.5
15encephalocele10.5
16hypoglycemia10.4
17gastroschisis10.4
18faces syndrome10.4
19pagon stephan syndrome10.4
20combined pituitary hormone deficiency10.4
21myelomeningocele10.3PAX3
22craniopharyngioma10.3PROP1, GH1
23thyrotropin deficiency, isolated10.3POU1F1, PROP1, GH1
24periventricular nodular heterotopia10.3
25pituitary tumors10.3GH1, PROP1, POU1F1
26pituitary adenoma10.3POU1F1, PROP1, GH1
27cerebral palsy10.2
28hemophagocytic lymphohistiocytosis10.2
29hepatitis10.2
30hyperinsulinism10.2
31sotos syndrome10.2
32marshall-smith syndrome10.2
33cornelia de lange syndrome10.2
34clubfoot10.2
35hydranencephaly10.2
36hyperprolactinemia10.2
37lissencephaly10.2
38arachnoiditis10.2
39dyskinetic cerebral palsy10.2
40choroiditis10.2
41angiomyolipoma10.2
42autism spectrum disorder10.2
43neonatal jaundice10.2
44retinal detachment10.2
45congenital hepatic fibrosis10.2
46polymicrogyria10.2
47tetra-amelia syndrome10.2
48absence of septum pellucidum10.2
49adams oliver syndrome10.2
50anorchia10.2

Graphical network of the top 20 diseases related to Septo-Optic Dysplasia:



Diseases related to septo-optic dysplasia

Symptoms for Septo-Optic Dysplasia

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Symptoms by clinical synopsis from OMIM:

182230

Clinical features from OMIM:

182230,262600,613038,613986

Symptoms:

48 (show all 34)
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • septo-optic dysplasia
  • strabismus/squint
  • nystagmus
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micropenis/small penis/agenesis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • corpus callosum/septum pellucidum total/partial agenesis
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • short stature/dwarfism/nanism
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • sensorineural deafness/hearing loss
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • dry/squaly skin/exfoliation
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • constipation
  • congenital cardiac anomaly/malformation/cardiopathy
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • diabetes insipidus
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • sleep and vigilance disorders
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autism/autistic disoders
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • generalized obesity
  • thirst
  • asthenia/fatigue/weakness
  • antenatal exposure : alcohol
  • maternal diabetes

HPO human phenotypes related to Septo-Optic Dysplasia:

(show all 41)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 optic atrophy hallmark (90%) HP:0000648
3 septo-optic dysplasia hallmark (90%) HP:0100842
4 cryptorchidism typical (50%) HP:0000028
5 cleft palate typical (50%) HP:0000175
6 strabismus typical (50%) HP:0000486
7 nystagmus typical (50%) HP:0000639
8 anterior hypopituitarism typical (50%) HP:0000830
9 seizures typical (50%) HP:0001250
10 short stature typical (50%) HP:0004322
11 hemiplegia/hemiparesis typical (50%) HP:0004374
12 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
13 hypoplasia of penis typical (50%) HP:0008736
14 sensorineural hearing impairment occasional (7.5%) HP:0000407
15 autism occasional (7.5%) HP:0000717
16 diabetes insipidus occasional (7.5%) HP:0000873
17 dry skin occasional (7.5%) HP:0000958
18 hypohidrosis occasional (7.5%) HP:0000966
19 obesity occasional (7.5%) HP:0001513
20 constipation occasional (7.5%) HP:0002019
21 sleep disturbance occasional (7.5%) HP:0002360
22 malformation of the heart and great vessels occasional (7.5%) HP:0002564
23 tracheoesophageal fistula occasional (7.5%) HP:0002575
24 abnormality of the sense of smell occasional (7.5%) HP:0004408
25 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
26 maternal diabetes occasional (7.5%) HP:0009800
27 abnormal renal physiology occasional (7.5%) HP:0012211
28 cognitive impairment occasional (7.5%) HP:0100543
29 autosomal dominant inheritance HP:0000006
30 autosomal recessive inheritance HP:0000007
31 optic nerve hypoplasia HP:0000609
32 growth hormone deficiency HP:0000824
33 diabetes insipidus HP:0000873
34 global developmental delay HP:0001263
35 agenesis of corpus callosum HP:0001274
36 absent septum pellucidum HP:0001331
37 phenotypic variability HP:0003812
38 optic disc hypoplasia HP:0007766
39 short finger HP:0009381
40 polydactyly HP:0010442
41 anterior pituitary hypoplasia HP:0010627

Drugs & Therapeutics for Septo-Optic Dysplasia

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Drug clinical trials:

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Genetic Tests for Septo-Optic Dysplasia

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Genetic tests related to Septo-Optic Dysplasia:

id Genetic test Affiliating Genes
1 Septooptic Dysplasia20 HESX1

Anatomical Context for Septo-Optic Dysplasia

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MalaCards organs/tissues related to Septo-Optic Dysplasia:

32
Pituitary, Brain, Skin, Eye, Testes, Hypothalamus, Cerebellum, Olfactory bulb

Animal Models for Septo-Optic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Septo-Optic Dysplasia:

36 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.4SOX2, HESX1, OTX2
2MP:00030128.8FGFR1, GLI2, PAX3, SOX2, SOX3
3MP:00053888.6SOX2, PAX3, HESX1, PROP1, GLI2, OTX2
4MP:00053818.0SOX2, PAX3, GLI2, OTX2, FGF8, FGFR1
5MP:00028737.9SOX2, PAX3, HESX1, GLI2, OTX2, FGF8
6MP:00053697.8SOX2, SOD1, PAX3, GLI2, OTX2, FGF8
7MP:00053907.8SOX2, SOD1, PAX3, GLI2, OTX2, FGF8
8MP:00053807.8SOX3, SOX2, PAX3, HESX1, GLI2, OTX2
9MP:00053917.7SOX2, SOD1, PAX3, HESX1, GLI2, OTX2
10MP:00053827.3POU1F1, SOX2, SOX3, LHX3, PAX3, HESX1
11MP:00053867.2SOX3, SOX2, SOD1, PAX3, PROP1, PROKR2
12MP:00053777.1LHX3, SOX2, SOD1, POU1F1, PAX3, HESX1
13MP:00053847.1SOX3, SOX2, SOD1, PAX3, PROP1, PROKR2
14MP:00053897.0SOD1, SOX2, SOX3, LHX3, POU1F1, PROP1
15MP:00053786.5PAX3, POU1F1, SOX2, SOX3, LHX3, PROP1
16MP:00053766.4POU1F1, SOD1, SOX2, SOX3, LHX3, PAX3
17MP:00107686.4POU1F1, SOD1, SOX2, SOX3, LHX3, PAX3
18MP:00053796.0FGFR1, LHX3, SOX3, SOX2, SOD1, POU1F1
19MP:00036315.4PAX3, POU1F1, SOD1, SOX2, SOX3, LHX3

Publications for Septo-Optic Dysplasia

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Articles related to Septo-Optic Dysplasia:

(show top 50)    (show all 185)
idTitleAuthorsYear
1
Unilateral closed lip schizencephaly with septo-optic dysplasia. (24761255)
2014
2
A giant renal angiomyolipoma (AML) in a patient with septo-optic dysplasia (SOD). (25199882)
2014
3
Midbrain-hindbrain involvement in septo-optic dysplasia. (24763416)
2014
4
Anorchia masked by septo-optic dysplasia. (22196414)
2012
5
The association of sphenoidal encephalocele and right anophthalmia with septo-optic dysplasia: a case report. (22665004)
2012
6
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. (21396578)
2011
7
Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia. (22085631)
2011
8
Septo-optic dysplasia syndrome with schizencephaly and sudden visual loss. A new observation. (21677624)
2011
9
Septo-optic dysplasia plus: a patient with diabetes insipidus. (20682211)
2010
10
Sonographic diagnosis of brain malformations, part 2: holoprosencephaly - hydranencephaly - agenesis of septum pellucidum - schizencephaly - septo-optical dysplasia. (21117007)
2010
11
Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency. (20694410)
2010
12
Rest-activity disturbances in children with septo-optic dysplasia characterized by actigraphy and 24-hour plasma melatonin profiles. (20660044)
2010
13
Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia. (20370811)
2010
14
Septo-optic dysplasia. (21073116)
2010
15
Septo-optic dysplasia. (19623216)
2010
16
Septo-optic dysplasia. (20602044)
2010
17
Septo-optic dysplasia with encephalocele. (19766496)
2009
18
Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes. (19623038)
2009
19
Monocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo-optic dysplasia. (18637109)
2009
20
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism. (19093031)
2008
21
Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. (18627063)
2008
22
Electroconvulsive therapy of a depressed patient with septo-optic dysplasia. (18451203)
2008
23
Septo-optic dysplasia associated with abnormal pubertal development. (17624226)
2007
24
Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. (15670191)
2005
25
Septo-optic dysplasia and dentato-olivary dysplasia in a case of 18q deletion/3p trisomy. (14986931)
2004
26
Diffusion-tensor imaging in septo-optic dysplasia. (15160259)
2004
27
Septo-optic dysplasia plus. (12849124)
2003
28
Case 12. Absent septum or septo-optic dysplasia (magnetic resonance imaging not yet performed). (12008837)
2002
29
Children with septo-optic dysplasia - how to improve and sharpen the diagnosis. (10895038)
2000
30
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. (9541113)
1998
31
Septo-optic dysplasia associated with bilateral complex microphthalmos. (8905851)
1996
32
Sotos syndrome with septo-optic dysplasia. (8910820)
1996
33
Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia). (9107111)
1996
34
Septo-optic dysplasia and growth hormone deficiency: accelerated pubertal maturation during GH therapy. (1392395)
1992
35
Septo-optic dysplasia (case report). (1810885)
1991
36
Growth hormone deficiency of hypothalamic origin in septo-optic dysplasia. (2079074)
1990
37
Anaesthesia and septo-optic dysplasia. Implications of missed diagnosis in the peri-operative period. (3434762)
1987
38
Hypothalamic defects in two adult patients with septo-optic dysplasia. (3751451)
1986
39
Extreme variant of septo-optic dysplasia. (3934619)
1985
40
Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. (6093418)
1984
41
The endocrine spectrum of septo-optic dysplasia. (6488662)
1984
42
Computed tomographic findings in septo-optic dysplasia: discordance between clinical and radiological findings. (6462434)
1984
43
Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia. (6846278)
1983
44
Septo-optic dysplasia and maternal age. (87980)
1979
45
Maternal factors in septo-optic dysplasia. (480051)
1979
46
Septo-optic dysplasia (de Morsier syndrome). (308321)
1978
47
A case of septo-optic dysplasia. (102048)
1978
48
Septo-optic dysplasia: a case report. (897950)
1977
49
Septo-optic dysplasia. (5076259)
1972
50
Septo-optic dysplasia and pituitary dwarfism. (4191531)
1970

Variations for Septo-Optic Dysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Septo-Optic Dysplasia:

64
id Symbol AA change Variation ID SNP ID
1HESX1p.Arg160CysVAR_010225rs28936702
2HESX1p.Gln6HisVAR_063230
3HESX1p.Ile26ThrVAR_063231
4HESX1p.Glu149LysVAR_063232
5HESX1p.Ser170LeuVAR_063233
6HESX1p.Thr181AlaVAR_063234

Clinvar genetic disease variations for Septo-Optic Dysplasia:

6
id Gene Name Type Significance SNP ID Assembly Location
1HESX1NM_003865.2(HESX1): c.478C> T (p.Arg160Cys)single nucleotide variantPathogenicrs28936702GRCh37Chr 3, 57232305: 57232305
2HESX1HESX1, 2-BP INS, 306AGinsertionPathogenic
3HESX1HESX1, 1-BP DEL, 1684GdeletionPathogenic

Expression for genes affiliated with Septo-Optic Dysplasia

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Expression patterns in normal tissues for genes affiliated with Septo-Optic Dysplasia

Search GEO for disease gene expression data for Septo-Optic Dysplasia.

Pathways for genes affiliated with Septo-Optic Dysplasia

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Pathways related to Septo-Optic Dysplasia according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0HESX1, SOX2
2
Show member pathways
9.6FGFR1, FGF8
3
Show member pathways
9.6FGFR1, FGF8
49.5SOX2, GLI2, OTX2
59.4OTX2, PAX3, SOX3
6
Show member pathways
9.2LHX3, FGF8, FGFR1
7
Show member pathways
9.1FGFR1, FGF8, GH1
8
Show member pathways
9.1FGFR1, FGF8, GH1
99.0FGFR1, FGF8, PAX3
10
Show member pathways
8.8FGFR1, FGF8, GH1, SOX2
11
Show member pathways
8.5SOX3, SOX2, GH1, FGF8, FGFR1

Compounds for genes affiliated with Septo-Optic Dysplasia

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Compounds related to Septo-Optic Dysplasia according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1acth449.7GH1, PROP1, HESX1, POU1F1
2citrinin449.6SOD1, MT-CYB
3semiquinone449.6MT-CYB, SOD1
4fenton449.5SOD1, MT-CYB
5ribonucleic acid449.5FGFR1, GH1, POU1F1
6antimycin a449.5MT-CYB, SOD1
7nitroblue tetrazolium449.4MT-CYB, SOD1
8hydroquinone44 2410.4SOD1, MT-CYB
9gnrh449.2LHX3, HESX1, PROP1, GH1, FGFR1
10forskolin44 50 1111.2POU1F1, GH1, FGF8, FGFR1
11dopamine44 28 24 1112.1FGFR1, FGF8, GH1, POU1F1
12ubiquinone449.1MT-CYB, SOD1
13oligonucleotide449.0POU1F1, PAX3, GH1, OTX2, FGFR1
14steroid448.9POU1F1, PROP1, GH1, FGFR1
15thymidine44 249.9FGFR1, GH1, MT-CYB, POU1F1
16testosterone44 61 24 1111.9PROP1, GH1, FGF8, FGFR1
17leucine448.9POU1F1, MT-CYB, GH1, FGFR1
18retinoic acid44 249.9SOX2, POU1F1, GH1, FGF8, FGFR1
19cysteine448.7LHX3, SOD1, PAX3, GH1, FGFR1
20alanine448.6SOX3, SOD1, POU1F1, MT-CYB, GH1
21h2o2448.6FGFR1, GH1, MT-CYB, SOD1
22zinc44 249.2FGFR1, FGF8, GLI2, GH1, POU1F1, SOD1
23tyrosine448.1LHX3, POU1F1, PAX3, GH1, FGF8, FGFR1

GO Terms for genes affiliated with Septo-Optic Dysplasia

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Cellular components related to Septo-Optic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.6PROP1, SOX2, LHX3
2nucleusGO:0056346.7FGFR1, LHX3, SOX3, SOX2, SOD1, POU1F1

Biological processes related to Septo-Optic Dysplasia according to GeneCards/GeneDecks:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1diencephalon morphogenesisGO:04885210.2OTX2, SOX2
2cell fate specificationGO:00170810.2OTX2, POU1F1
3regulation of smoothened signaling pathwayGO:00858910.1OTX2, GLI2
4dorsal/ventral pattern formationGO:00995310.1PROP1, OTX2
5midbrain developmentGO:03090110.1FGFR1, OTX2
6otic vesicle formationGO:03091610.0FGF8, HESX1
7forebrain morphogenesisGO:04885310.0FGF8, HESX1
8positive regulation of multicellular organism growthGO:04001810.0GH1, POU1F1
9inner ear morphogenesisGO:0424729.9FGFR1, OTX2, SOX2
10neuron fate commitmentGO:0486639.9PAX3, SOX2
11negative regulation of neuron differentiationGO:0456659.9SOX2, SOX3
12positive regulation of neuron differentiationGO:0456669.9SOX2, GLI2, FGFR1
13chondrocyte differentiationGO:0020629.9GLI2, FGFR1
14spinal cord association neuron differentiationGO:0215279.9LHX3, PAX3
15branching involved in salivary gland morphogenesisGO:0604459.9FGF8, FGFR1
16organ inductionGO:0017599.9FGF8, FGFR1
17inner ear developmentGO:0488399.8SOX2, LHX3
18male genitalia developmentGO:0305399.8FGF8, SOX2
19placenta developmentGO:0018909.8LHX3, SOD1
20motor neuron axon guidanceGO:0080459.7LHX3, FGF8
21organ morphogenesisGO:0098879.7PAX3, SOX3, LHX3
22circadian rhythmGO:0076239.6PROKR2, PROK2
23pituitary gland developmentGO:0219839.6GLI2, SOX2, SOX3, LHX3
24sensory perception of soundGO:0076059.6FGFR1, PAX3, SOD1
25positive regulation of MAP kinase activityGO:0434069.4FGFR1, GH1
26positive regulation of cell proliferationGO:0082849.1POU1F1, PAX3, FGF8, FGFR1
27negative regulation of transcription from RNA polymerase II promoterGO:0001228.9SOX2, POU1F1, PAX3, PROP1, GLI2, FGFR1
28positive regulation of transcription, DNA-templatedGO:0458938.8LHX3, SOX2, POU1F1, PAX3, GLI2, OTX2
29positive regulation of transcription from RNA polymerase II promoterGO:0459448.5LHX3, SOX2, POU1F1, PAX3, PROP1, GLI2

Molecular functions related to Septo-Optic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:0010779.3SOX2, POU1F1, OTX2
2chromatin bindingGO:0036828.6SOX2, POU1F1, PAX3, HESX1, PROP1, GLI2
3sequence-specific DNA bindingGO:0435658.2OTX2, LHX3, SOX2, POU1F1, PAX3, HESX1
4sequence-specific DNA binding transcription factor activityGO:0037008.2LHX3, SOX2, POU1F1, PAX3, HESX1, PROP1
5protein bindingGO:0055157.4SOD1, PAX3, HESX1, PROP1, GH1, GLI2

Products for genes affiliated with Septo-Optic Dysplasia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Septo-Optic Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet