SOD
MCID: SPT014
MIFTS: 59

Septo-Optic Dysplasia (SOD) malady

Neuronal, Eye, Endocrine, Fetal, Genetic categories

Summaries for Septo-Optic Dysplasia

Sources:
43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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: Septo-Optic Dysplasia, also known as septooptic dysplasia, is related to growth hormone deficiency and holoprosencephaly, 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 Wnt / Hedgehog / Notch and Transcription factors in neurogenesis. The compounds citrinin and semiquinone have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and olfactory bulb, and related mouse phenotypes are taste/olfaction and respiratory system.

NIH Rare Diseases:43 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:64 Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring... more...

Description from OMIM:47 182230,262600,613038,613986

Aliases & Classifications for Septo-Optic Dysplasia

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 45Novoseek, 49Orphanet, 20GeneTests, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Neuronal, Eye, Endocrine


Characteristics (Orphanet epidemiological data):

49
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


Aliases & Descriptions:

septo-optic dysplasia 43 21 44 45 49
septooptic dysplasia 43 20 21 47
de morsier syndrome 43 21 45 49
sod 43 21 49
multiple pituitary hormone deficiencies, genetic forms 49
combined pituitary hormone deficiencies, genetic forms 49
septo-optic dysplasia with growth hormone deficiency 43
hypopituitarism and septooptic 'dysplasia' 43
familial congenital hypopituitarism 49
septo-optic dysplasia spectrum 49
de morsier's syndrome 44


External Ids:

MESH via Orphanet36 D025962
ICD10 via Orphanet26 Q04.8, E23.0
SNOMED-CT via Orphanet58 7611002
UMLS via Orphanet62 C0338503

Related Diseases for Septo-Optic Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1growth hormone deficiency30.9POU1F1, PROP1, GH1, SOX3, HESX1
2holoprosencephaly30.6FGF8, GLI2, POU1F1, PROP1, SOX3, HESX1
3dwarfism30.5GH1, PROP1, POU1F1, FGFR1
4pituitary hypoplasia30.5LHX3, OTX2, POU1F1, PROP1, SOX3, HESX1
5isolated growth hormone deficiency30.3GH1, POU1F1
6panhypopituitarism30.3LHX3, HESX1, GH1, PROP1, POU1F1
7kallmann syndrome30.2FGF8, FGFR1, PROKR2, PROK2, PROP1, HESX1
8parkinson's disease30.1FGF8
9adenoma29.8GH1, PROP1, POU1F1, FGFR1
10optic nerve hypoplasia10.7
11schizencephaly10.6
12diabetes insipidus10.5
13corpus callosum agenesis10.4
14hypoglycemia10.4
15encephalocele10.4
16combined pituitary hormone deficiency10.4
17vascular disruption sequence10.4
18lateral sclerosis10.3
19amyotrophic lateral sclerosis10.3
20periventricular nodular heterotopia10.2
21periventricular heterotopia10.2
22hemophagocytic lymphohistiocytosis10.2
23sotos syndrome10.2
24hyperprolactinemia10.2
25lissencephaly10.2
26gastroschisis10.2
27dyskinetic cerebral palsy10.2
28clubfoot10.2
29hyperinsulinism10.2
30n syndrome10.2
31hydranencephaly10.2
32autism spectrum disorder10.2
33congenital hepatic fibrosis10.2
34polymicrogyria10.2
35tetra-amelia syndrome10.2
36absence of septum pellucidum10.2
37anorchia10.2
38adams oliver syndrome10.2
39arachnoid cysts10.2
40bilateral perisylvian polymicrogyria10.2
41cerebellar agenesis10.2
42cerebellar hypoplasia10.2
43craniotelencephalic dysplasia10.2
44marshall syndrome10.2
45hyperinsulinism, focal10.2
46marshall-smith syndrome10.2
47oliver syndrome10.2
48pagon stephan syndrome10.2
49rhombencephalosynapsis10.2
50blindness10.2

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



Diseases related to septo-optic dysplasia

Clinical Features for Septo-Optic Dysplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

182230,262600,613038,613986

Clinical synopsis from OMIM:

182230

Symptoms:

49 (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

Drugs & Therapeutics for Septo-Optic Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Septo-Optic Dysplasia

Drug clinical trials:

Search ClinicalTrials for Septo-Optic Dysplasia

Search NIH Clinical Center for Septo-Optic Dysplasia

Search CenterWatch for Septo-Optic Dysplasia

Genetic Tests for Septo-Optic Dysplasia

Sources:
20GeneTests
See all sources

Genetic tests related to Septo-Optic Dysplasia:

id Genetic test Affiliating Genes
1 Septooptic Dysplasia20 HESX1

Anatomical Context for Septo-Optic Dysplasia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Septo-Optic Dysplasia:

33
Brain, Skin, Olfactory bulb, Hypothalamus, Pituitary

Animal Models for Septo-Optic Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Septo-Optic Dysplasia:

37 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.9OTX2, HESX1
2MP:00053888.2HESX1, SOX2, PROP1, GLI2, OTX2, PAX3
3MP:00028737.7PAX3, FGF8, OTX2, FGFR1, GLI2, SOX2
4MP:00053697.6PAX3, OTX2, FGF8, FGFR1, GLI2, SOD1
5MP:00053807.6SOX3, SOX2, GLI2, HESX1, FGFR1, FGF8
6MP:00053817.6PAX3, OTX2, FGF8, FGFR1, GLI2, SOX2
7MP:00053907.6OTX2, PAX3, FGF8, GLI2, SOD1, SOX2
8MP:00053917.5HESX1, SOX2, GLI2, FGFR1, FGF8, SOD1
9MP:00053777.0FGF8, OTX2, PAX3, GLI2, SOD1, SOX2
10MP:00053867.0FGFR1, PAX3, OTX2, FGF8, GLI2, PROP1
11MP:00053846.9PAX3, OTX2, FGF8, FGFR1, GLI2, PROKR2
12MP:00053896.9GH1, PROP1, PROKR2, POU1F1, OTX2, GLI2
13MP:00053826.8OTX2, FGF8, GLI2, SOX2, SOX3, POU1F1
14MP:00053786.1LHX3, SOX3, GH1, PROP1, PROKR2, POU1F1
15MP:00053766.0PAX3, PROP1, PROKR2, POU1F1, GLI2, FGF8
16MP:00107685.9GLI2, POU1F1, SOX2, LHX3, OTX2, FGF8
17MP:00053795.6GH1, LHX3, SOX3, SOX2, SOD1, PROP1
18MP:00036315.0LHX3, OTX2, PROP1, HESX1, SOX3, SOX2

Publications for Septo-Optic Dysplasia

Sources:
51PubMed
See all sources

Articles related to Septo-Optic Dysplasia:

(show top 50)    (show all 180)
idTitleAuthorsYear
1
Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children. (24379556)
2013
2
Anorchia masked by septo-optic dysplasia. (22196414)
2012
3
Septo-optic dysplasia: an autopsy study of a 23-week fetus. (22192704)
2012
4
Septo-optic dysplasia-plus and dyskinetic cerebral palsy in a child. (21533562)
2012
5
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. (21396578)
2011
6
Septo-optic dysplasia syndrome with schizencephaly and sudden visual loss. A new observation. (21677624)
2011
7
Posterior pituitary (PP) evaluation in patients with anterior pituitary defect associated with ectopic PP and septo-optic dysplasia. (21750044)
2011
8
Sonographic diagnosis of brain malformations, part 2: holoprosencephaly - hydranencephaly - agenesis of septum pellucidum - schizencephaly - septo-optical dysplasia. (21117007)
2010
9
Septo-optic dysplasia. (20602044)
2010
10
Bilateral anophthalmia with septo-optic dysplasia. (21217902)
2010
11
Septo-optic dysplasia plus: clinical presentation and magnetic resonance imaging findings. (20464308)
2010
12
Focal congenital hyperinsulinism in a patient with septo-optic dysplasia. (20842182)
2010
13
Monocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo-optic dysplasia. (18637109)
2009
14
Recurrent septo-optic dysplasia accompanied by omphalocele: a case report. (19270460)
2009
15
Septo-optic dysplasia and psychiatric disorders: a case report. (19057177)
2008
16
Septo-optic dysplasia - novel insights into the aetiology. (18259104)
2008
17
Maternal age in patients with septo-optic dysplasia. (15921176)
2005
18
Diffusion-tensor imaging in septo-optic dysplasia. (15160259)
2004
19
Septo-optic dysplasia plus. (12849124)
2003
20
Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report. (12868472)
2003
21
Septo-optic dysplasia: a literature review. (12877274)
2003
22
Case 12. Absent septum or septo-optic dysplasia (magnetic resonance imaging not yet performed). (12008837)
2002
23
HESX1 and Septo-Optic Dysplasia. (12424431)
2002
24
Early-onset of septo-optic dysplasia. A case report with follow-up. (11862167)
2002
25
Septo-optic dysplasia and unexpected adult death--an autopsy approach. (11451077)
2001
26
Septo-optic dysplasia plus: a spectrum of malformations of cortical development. (10762523)
2000
27
Septo-optic dysplasia with unilateral optic nerve hypoplasia: case report. (10916232)
2000
28
Why is the retention of gonadotrophin secretion common in children with panhypopituitarism due to septo-optic dysplasia? (10037251)
1999
29
Hypothesis: septo-optic dysplasia is a vascular disruption sequence. (9548577)
1998
30
Sudden death in septo-optic dysplasia. Report of 5 cases. (9006427)
1997
31
Hypothesis: septo-optic dysplasia is a vascular disruption sequence. (9096749)
1997
32
Sotos syndrome with septo-optic dysplasia. (8910820)
1996
33
Septo-optic dysplasia. (8979557)
1996
34
Holoprosencephaly and septo-optic dysplasia. (8081628)
1994
35
Septo-optic dysplasia: the clinical insignificance of an absent septum pellucidum. (8504891)
1993
36
Septo-optic dysplasia associated with polyendocrine dysfunction. (8501404)
1993
37
Septo-optic dysplasia (case report). (1810885)
1991
38
Septo-optic dysplasia: MR imaging. (2928524)
1989
39
Puberty in the syndrome of septo-optic dysplasia. (2916489)
1989
40
Apert syndrome associated with septo-optic dysplasia. (2604803)
1989
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 in an infant of a diabetic mother. (7271539)
1981
45
Sexual precocity in association with septo-optic dysplasia and hypothalamic hypopituitarism. (205644)
1978
46
Evidence for a hypothalamic defect in septo-optic dysplasia. (677986)
1978
47
Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism. (1119454)
1975
48
Septo-optic dysplasia: clinical and embryological aspects. (4442662)
1974
49
Septo-optic dysplasia. (5076259)
1972
50
Septo-optic dysplasia. (4642811)
1972

Genetic Variations for Septo-Optic Dysplasia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Septo-Optic Dysplasia:

63
id Symbol AA change Variation SNP ID
1HESX1p.Arg160CysVAR_010225rs28936702
2HESX1p.Gln6HisVAR_063230
3HESX1p.Ile26ThrVAR_063231
4HESX1p.Glu149LysVAR_063232
5HESX1p.Ser170LeuVAR_063233
6HESX1p.Thr181AlaVAR_063234

Expression for genes affiliated with Septo-Optic Dysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
4Cell Signaling Technology, 12EMD Millipore, 38NCBI BioSystems Database
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5OTX2, GLI2, SOX2
29.1PAX3, OTX2, SOX3
38.8PAX3, FGF8, FGFR1

Compounds for genes affiliated with Septo-Optic Dysplasia

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank, 29IUPHAR
See all sources

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

(show all 16)
idCompoundScoreTop Affiliating Genes
1citrinin459.9MT-CYB, SOD1
2semiquinone459.9MT-CYB, SOD1
3fenton459.8SOD1, MT-CYB
4antimycin a459.8MT-CYB, SOD1
5nitroblue tetrazolium459.7MT-CYB, SOD1
6acth459.7HESX1, GH1, PROP1, POU1F1
7hydroquinone45 2410.5MT-CYB, SOD1
8forskolin45 50 1111.2FGF8, FGFR1, POU1F1, GH1
9dopamine45 29 11 2412.1GH1, POU1F1, FGFR1, FGF8
10thymidine45 2410.1GH1, MT-CYB, POU1F1, FGFR1
11gnrh459.0LHX3, HESX1, GH1, PROP1, FGFR1
12alanine458.9SOX3, SOD1, GH1, MT-CYB, POU1F1
13leucine458.8GH1, MT-CYB, POU1F1, FGFR1
14retinoic acid45 249.7FGF8, FGFR1, POU1F1, GH1, SOX2
15oligonucleotide458.6GH1, POU1F1, FGFR1, OTX2, PAX3
16zinc45 249.3FGF8, FGFR1, GLI2, POU1F1, GH1, SOD1

GO Terms for genes affiliated with Septo-Optic Dysplasia

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056346.5PAX3, HESX1, SOX3, SOX2, SOD1, PROP1

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1diencephalon morphogenesisGO:04885210.2OTX2, SOX2
2otic vesicle formationGO:03091610.0FGF8, HESX1
3cell fate specificationGO:00170810.0OTX2, POU1F1
4forebrain morphogenesisGO:04885310.0FGF8, HESX1
5regulation of smoothened signaling pathwayGO:00858910.0OTX2, GLI2
6branching involved in salivary gland morphogenesisGO:0604459.9FGF8, FGFR1
7inner ear morphogenesisGO:0424729.9OTX2, FGFR1, SOX2
8organ inductionGO:0017599.8FGF8, FGFR1
9positive regulation of neuron differentiationGO:0456669.8SOX2, GLI2, FGFR1
10male genitalia developmentGO:0305399.7FGF8, SOX2
11pituitary gland developmentGO:0219839.3LHX3, SOX3, SOX2, GLI2
12neuron fate commitmentGO:0486639.3SOX2, PAX3
13spinal cord association neuron differentiationGO:0215279.2PAX3, LHX3
14sensory perception of soundGO:0076059.1FGFR1, PAX3, SOD1
15organ morphogenesisGO:0098879.0LHX3, SOX3, PAX3
16negative regulation of apoptotic processGO:0430668.8FGFR1, PROK2, PROP1, LHX3
17negative regulation of transcription from RNA polymerase II promoterGO:0001228.6PAX3, FGFR1, GLI2, POU1F1, PROP1, SOX2
18positive regulation of cell proliferationGO:0082848.3PAX3, FGF8, FGFR1, POU1F1
19positive regulation of transcription, DNA-dependentGO:0458938.2OTX2, SOX2, POU1F1, LHX3, GLI2, PAX3
20positive regulation of transcription from RNA polymerase II promoterGO:0459447.9POU1F1, SOX2, LHX3, GLI2, OTX2, PAX3

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 positiveGO:0010779.6SOX2, POU1F1, OTX2
2chromatin bindingGO:0036828.0PAX3, GLI2, POU1F1, PROP1, SOX2, HESX1
3sequence-specific DNA bindingGO:0435657.6LHX3, PAX3, OTX2, GLI2, POU1F1, SOX2
4sequence-specific DNA binding transcription factor activityGO:0037007.3LHX3, HESX1, SOX2, PROP1, POU1F1, GLI2

Products for genes affiliated with Septo-Optic Dysplasia

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Sources for Septo-Optic Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet