SOD
MCID: SPT014
MIFTS: 63

Septo-Optic Dysplasia (SOD) malady

Neuronal diseases, Eye diseases, Endocrine diseases, Fetal diseases, Genetic diseases categories

Summaries for Septo-Optic Dysplasia

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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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: Septo-Optic Dysplasia, also known as septooptic dysplasia, is related to hypopituitarism and holoprosencephaly, and has symptoms including autism/autistic disoders, intellectual deficit/mental/psychomotor retardation/learning disability and sleep and vigilance disorders. 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 pituitary, brain and eye, and related mouse phenotypes are taste/olfaction and respiratory system.

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.

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

Wikipedia:63 Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring... more...

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

Aliases & Classifications for Septo-Optic Dysplasia

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42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43NINDS, 46OMIM, 44Novoseek, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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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


Aliases & Descriptions:

septo-optic dysplasia 42 21 43 44 48
septooptic dysplasia 42 20 21 46
de morsier syndrome 42 21 44 48
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


External Ids:

MESH via Orphanet35 D025962
ICD10 via Orphanet26 Q04.8, E23.0
SNOMED-CT via Orphanet57 7611002
UMLS via Orphanet61 C0338503

Related Diseases for Septo-Optic Dysplasia

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17GeneCards, 18GeneDecks
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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 120)
idRelated DiseaseScoreTop Affiliating Genes
1hypopituitarism30.8HESX1, SOX3, GH1, PROP1, POU1F1, LHX3
2holoprosencephaly30.6LHX3, HESX1, SOX3, POU1F1, GLI2, FGF8
3dwarfism30.5PROP1, GH1, FGFR1, POU1F1
4pituitary hypoplasia30.5LHX3, OTX2, POU1F1, PROP1, SOX3, HESX1
5panhypopituitarism30.3HESX1, GH1, POU1F1, PROP1, LHX3
6kallmann syndrome30.2FGF8, FGFR1, LHX3, HESX1, PROKR2, PROK2
7parkinson's disease30.1FGF8
8cataract29.8SOD1
9pituitary adenoma29.8POU1F1, GH1, PROP1
10adenoma29.8GH1, PROP1, POU1F1, FGFR1
11cerebritis10.5
12diabetes insipidus10.5
13hypoglycemia10.4
14retinitis10.4
15pagon stephan syndrome10.4
16ischemia10.3
17lateral sclerosis10.3
18amyotrophic lateral sclerosis10.3
19diabetes mellitus10.2
20periventricular nodular heterotopia10.2
21hemophagocytic lymphohistiocytosis10.2
22choroiditis10.2
23sotos syndrome10.2
24hyperprolactinemia10.2
25lissencephaly10.2
26gastroschisis10.2
27arachnoiditis10.2
28dyskinetic cerebral palsy10.2
29cornelia de lange syndrome10.2
30clubfoot10.2
31hyperinsulinism10.2
32hydranencephaly10.2
33autism spectrum disorder10.2
34cerebral palsy10.2
35epilepsy syndrome10.2
36hepatitis10.2
37neonatal jaundice10.2
38congenital hepatic fibrosis10.2
39polymicrogyria10.2
40tetra-amelia syndrome10.2
41absence of septum pellucidum10.2
42craniotelencephalic dysplasia10.2
43rhombencephalosynapsis10.2
44hypothyroidism due to deficient transcription factors involved in pituitary development or function10.2
45pituitary stalk interruption syndrome10.2
46neuropathy10.2
47pituitary hormone deficiency, combined 110.1
48neuronitis10.1
49diabetic neuropathy10.1
50melanoma10.1

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



Diseases related to septo-optic dysplasia

Clinical Features for Septo-Optic Dysplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

182230,262600,613038,613986

Clinical synopsis from OMIM:

182230

Symptoms:

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

Drugs & Therapeutics for Septo-Optic Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests
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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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32MalaCards
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MalaCards organs/tissues related to Septo-Optic Dysplasia:

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

Animal Models for Septo-Optic Dysplasia or affiliated genes

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36MGI
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Publications for Septo-Optic Dysplasia

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Genetic Variations for Septo-Optic Dysplasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Septo-Optic Dysplasia:

62
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

Expression for genes affiliated with Septo-Optic Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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4Cell Signaling Technology, 12EMD Millipore, 37NCBI BioSystems Database
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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

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 28IUPHAR
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Compounds related to Septo-Optic Dysplasia according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1citrinin449.9MT-CYB, SOD1
2semiquinone449.9MT-CYB, SOD1
3fenton449.8MT-CYB, SOD1
4antimycin a449.8SOD1, MT-CYB
5nitroblue tetrazolium449.7SOD1, MT-CYB
6acth449.7HESX1, GH1, PROP1, POU1F1
7hydroquinone44 2410.5SOD1, MT-CYB
8forskolin44 49 1111.2FGF8, FGFR1, GH1, POU1F1
9dopamine44 28 11 2412.1FGF8, GH1, POU1F1, FGFR1
10thymidine44 2410.1FGFR1, GH1, MT-CYB, POU1F1
11gnrh449.0FGFR1, LHX3, PROP1, HESX1, GH1
12alanine448.9SOX3, MT-CYB, GH1, SOD1, POU1F1
13leucine448.8FGFR1, POU1F1, MT-CYB, GH1
14retinoic acid44 249.7FGF8, FGFR1, GH1, POU1F1, SOX2
15oligonucleotide448.6GH1, OTX2, PAX3, FGFR1, POU1F1
16zinc44 249.3FGFR1, SOX2, SOD1, POU1F1, GLI2, GH1

GO Terms for genes affiliated with Septo-Optic Dysplasia

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16Gene Ontology
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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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet