SOD
MCID: SPT006
MIFTS: 46

Septooptic Dysplasia (SOD) malady

Categories: Genetic diseases (common), Neuronal diseases, Eye diseases, Endocrine diseases

Aliases & Classifications for Septooptic Dysplasia

About this section

Aliases & Descriptions for Septooptic Dysplasia:

Name: Septooptic Dysplasia 52 11 24 25 70 13
Septo-Optic Dysplasia 11 25 49 27 50 39
De Morsier Syndrome 11 24 25 70 50
Growth Hormone Deficiency with Pituitary Anomalies 52 70 12 68
Sod 11 25 70
 
Pituitary Hormone Deficiency, Combined, 5 52 70
Septo-Optic Dysplasia with Growth Hormone Deficiency 70
Kallmann Syndrome 68
Cphd5 70
Ghdpa 70

Characteristics:

HPO:

64
septooptic dysplasia:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 182230
Disease Ontology11 DOID:0060857
ICD1030 Q04.8, Q04.4

Summaries for Septooptic Dysplasia

About this section
UniProtKB/Swiss-Prot:70 Growth hormone deficiency with pituitary anomalies: A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe. Pituitary hormone deficiency, combined, 5: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD5 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Septooptic dysplasia: A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum.

MalaCards based summary: Septooptic Dysplasia, also known as septo-optic dysplasia, is related to hesx1-related combined pituitary hormone deficiency and septo-optic dysplasia spectrum, and has symptoms including anosmia, optic nerve hypoplasia and growth hormone deficiency. An important gene associated with Septooptic Dysplasia is HESX1 (HESX Homeobox 1). Affiliated tissues include pituitary, brain and skin, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:11 An autosomal genetic disease characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has material basis in mutation in the HESX1 gene on chromosome 3p14.

Genetics Home Reference:25 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 nerves, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia.

OMIM:52 Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve... (182230) more...

NINDS:49 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. Most, however, are developmentally delayed due to vision impairment or neurological problems.

Related Diseases for Septooptic Dysplasia

About this section

Diseases related to Septooptic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1hesx1-related combined pituitary hormone deficiency11.2
2septo-optic dysplasia spectrum11.1
3pituitary hormone deficiency, combined, 110.9
4pituitary stalk interruption syndrome10.9
5potter's syndrome10.1LHX3, PROP1
6hypopituitarism10.1
7caudal regression syndrome10.1POU1F1, PROP1
8microvascular complications of diabetes 310.1HESX1, POU1F1
9rheumatic encephalitis10.0POU1F1, PROP1
10rolandic epilepsy, mental retardation, and speech dyspraxia10.0HESX1, SOX3
11epidural neoplasm10.0HESX1, LHX3, PROP1
12gastrointestinal defects and immunodeficiency syndrome10.0HESX1, SIX3
13arachnoiditis9.9
14arachnoid cysts9.9
15headache9.9
16adult i blood group with or without congenital cataract9.8HESX1, LHX3, POU1F1, PROP1
17cat eye syndrome9.8
18growth hormone deficiency9.8
19small cell carcinoma9.8SIX3, SOX3
20gynandroblastoma9.8HESX1, POU1F1, SOX3
21mental retardation, x-linked syndromic, christianson type9.8POU1F1, PROP1, SOX3
22congenital amputation9.8HESX1, LHX4, POU1F1, PROP1
23fibrous dysplasia9.8SIX3, SOX3
24angiodysplasia9.7SIX3, SOX3
25shaver's disease9.7HESX1, LHX3, POU1F1, PROP1, SOD1
26idiopathic hypersomnia without long sleep time9.7HESX1, LHX3, LHX4, POU1F1, PROP1
27early-onset glaucoma9.7HESX1, LHX3, LHX4, POU1F1, PROP1
28urethra clear cell adenocarcinoma9.7HESX1, LHX3, LHX4, POU1F1, PROP1
29plasmalogens synthesis deficiency isolated9.6HESX1, LHX4, POU1F1, SOX3
30l-cell glucagon-like peptide producing tumor9.5HESX1, LHX3, LHX4, POU1F1, SOX3
31ossification of the posterior longitudinal ligament of spine9.4HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
32mucopolysaccharidosis type vi9.4HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
33cervix squamous papilloma9.3HESX1, LHX3, LHX4, POU1F1, PROP1, SOX3
34aminoacylase 1 deficiency8.9HESX1, LHX3, LHX4, POU1F1, PROP1, SIX3

Graphical network of the top 20 diseases related to Septooptic Dysplasia:



Diseases related to septooptic dysplasia

Symptoms & Phenotypes for Septooptic Dysplasia

About this section

Symptoms by clinical synopsis from OMIM:

182230

Clinical features from OMIM:

182230

Human phenotypes related to Septooptic Dysplasia:

 64 (show all 11)
id Description HPO Frequency HPO Source Accession
1 optic nerve hypoplasia64 HP:0000609
2 growth hormone deficiency64 HP:0000824
3 diabetes insipidus64 HP:0000873
4 global developmental delay64 HP:0001263
5 agenesis of corpus callosum64 HP:0001274
6 absent septum pellucidum64 HP:0001331
7 short stature64 HP:0004322
8 optic disc hypoplasia64 HP:0007766
9 short finger64 HP:0009381
10 polydactyly64 HP:0010442
11 anterior pituitary hypoplasia64 HP:0010627

UMLS symptoms related to Septooptic Dysplasia:


anosmia

MGI Mouse Phenotypes related to Septooptic Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6HESX1, LHX3, POU1F1, SOD1
2MP:00053828.7HESX1, LHX3, POU1F1, SIX3, SOX3
3MP:00053897.9LHX3, POU1F1, PROP1, SOD1, SOX3
4MP:00053797.9HESX1, LHX3, LHX4, POU1F1, PROP1, SOD1
5MP:00053787.8HESX1, LHX3, POU1F1, PROP1, SIX3, SOD1
6MP:00107687.2HESX1, LHX3, LHX4, POU1F1, PROP1, SIX3
7MP:00036317.1HESX1, LHX3, LHX4, POU1F1, PROP1, SIX3

Drugs & Therapeutics for Septooptic Dysplasia

About this section

Drugs for Septooptic Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormone AntagonistsPhase 4, Phase 313180
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 313168
3HormonesPhase 4, Phase 314415
4
ZincapprovedPhase 322967440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
5Pharmaceutical SolutionsPhase 38192
6Insulin, Globin ZincPhase 34645
7insulinPhase 34646
8Hypoglycemic AgentsPhase 35896
9
Melatoninapproved, nutraceutical, vet_approvedEarly Phase 126873-31-4896
Synonyms:
0E2B08C1-B325-45B1-8939-6F9081EFDFA4
4-ACETAMIDO-4'-ISOTHIO-CYANATOSTILBENE-2,2'-DISULFONIC ACID
5-22-12-00042 (Beilstein Handbook Reference)
5-Methoxy-N-acetyltryptamine
5-methoxy-N-acetyltryptamine
73-31-4
A4039/0172195
AB00053279
AC1L1A9Q
AC1Q4F1W
AC1Q4F1X
AKOS000276269
Acetamide, N-(2-(5-methoxy-1H-indol-3-yl)ethyl)- (9CI)
Acetamide, N-[2-(5-methoxy-1H-indol-3-yl)ethyl]- (9CI)
Acetamide, N-[2-(5-methoxyindol-3-yl)ethyl]- (6CI,8CI)
Acetamide, {N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-}
Acetamide, {N-[2-(5-methoxyindol-3-yl)ethyl]-}
BAS 01281092
BIDD:ER0618
BPBio1_000590
BRD-K97530723-001-07-6
BRN 0205542
BSPBio_000536
BSPBio_003006
Bio-0635
C01598
CAS-73-31-4
CCRIS 3472
CHEBI:16796
CHEMBL45
CID896
ChemDiv2_003916
Circadin
D008550
D08170
DB01065
DB08189
DivK1c_000353
EINECS 200-797-7
EU-0100787
HMS1380B22
HMS1569K18
HMS1921E04
HMS2089F09
HMS501B15
HSCI1_000400
HSDB 7509
I05-0076
I10-0345
IDI1_000353
IDI1_002631
IN1244
KBio1_000353
KBio2_000665
KBio2_003233
KBio2_005801
KBio3_002226
KBioGR_000591
KBioSS_000665
L001261
LS-1623
Lopac-M-5250
Lopac0_000787
M 5250
M-1200
M-1250
M1105
M5250_SIGMA
ML1
MLS000859594
MLS001055382
MLS001240204
MT6
Mela-T
Melapure
Melatol
Melatonex
Melatonex, Melatonin
Melatonin
Melatonin (synth.) standard-grade
 
Melatonin (synth.) ultra-pure
Melatonina
Melatonina (TN)
Melatonine
Melovine
MolPort-000-737-883
N-(2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)-Acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)acetamide
N-Acetyl-5-methoxy-tryptamine
N-Acetyl-5-methoxy-tryptamine Melatonine
N-Acetyl-5-methoxytryptamine
N-[2-(5-Methoxy-1H-indol-3-yl)-ethyl]-acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]acetamide
N-[2-(5-methoxyindol-3-yl)ethyl]acetamide
N-acetyl-5-methoxy-tryptamine
NCGC00015680-01
NCGC00015680-02
NCGC00015680-03
NCGC00015680-06
NCGC00015680-13
NCGC00090727-01
NCGC00090727-02
NCGC00090727-03
NCGC00090727-04
NCGC00090727-05
NCGC00090727-06
NCGC00090727-07
NCGC00090727-08
NCGC00090727-09
NCI60_004378
NINDS_000353
NMR/14327425
NSC 113928
NSC113928
NSC56423
Nature'S Harmony
Night Rest
Oprea1_104553
Oprea1_814234
PREVENTION 1 (MELATONIN) (PREVENTION 1)
PREVENTION 2 (MELATONIN)
PREVENTION 3 (MELATONIN)
PREVENTION 4 (MELATONIN)
PREVENTION 5 (MELATONIN)
Pineal Hormone
Posidorm
Prestwick0_000458
Prestwick1_000458
Prestwick2_000458
Prestwick3_000458
Prestwick_312
Regulin
Revital Melatonin
Rx Balance
S1204_Selleck
SDCCGMLS-0065812.P001
SDCCGMLS-0065812.P002
SMP2_000309
SMR000326666
SPBio_001527
SPBio_002475
SPECTRUM1500690
STK386880
Sleep Right
Spectrum2_001344
Spectrum3_001393
Spectrum4_000066
Spectrum5_001745
Spectrum_000185
TNP00300
UNII-JL5DK93RCL
Vivitas
WLN: T56 BMJ D2MV1 GO1
ZINC00057060
{N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-} Acetamide
{N-[2-(5-methoxyindol-3-yl)ethyl]-} Acetamide
10Protective AgentsEarly Phase 17443
11AntioxidantsEarly Phase 13050
12Central Nervous System DepressantsEarly Phase 113403

Interventional clinical trials:

idNameStatusNCT IDPhase
1Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve HypoplasiaCompletedNCT00140413Phase 4
2Validation of Macimorelin as a Test for Adult Growth Hormone DeficiencyCompletedNCT02558829Phase 3
3Biological Clock Dysfunction in Optic Nerve HypoplasiaUnknown statusNCT00825591Early Phase 1

Search NIH Clinical Center for Septooptic Dysplasia


Cochrane evidence based reviews: septo-optic dysplasia

Genetic Tests for Septooptic Dysplasia

About this section

Genetic tests related to Septooptic Dysplasia:

id Genetic test Affiliating Genes
1 Septo-Optic Dysplasia27
2 Septooptic Dysplasia24 HESX1

Anatomical Context for Septooptic Dysplasia

About this section

MalaCards organs/tissues related to Septooptic Dysplasia:

36
Pituitary, Brain, Skin, Thyroid, Eye

Publications for Septooptic Dysplasia

About this section

Articles related to Septooptic Dysplasia:

idTitleAuthorsYear
1
Septooptic Dysplasia with an Associated Arachnoid Cyst. (27891281)
2016
2
Increased Intraocular Pressure in a Patient With Septooptic Dysplasia: A Case Report. (27136085)
2016
3
Incidental discovery of subtle-variant septooptic dysplasia in an adult with headaches: a novel case with pathophysiologic implications. (23333409)
2013
4
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. (17148560)
2007
5
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia. (14557462)
2003
6
Septooptic dysplasia. (12733175)
2002
7
Septooptic dysplasia (de Morsier syndrome). (3999191)
1985

Variations for Septooptic Dysplasia

About this section

UniProtKB/Swiss-Prot genetic disease variations for Septooptic Dysplasia:

70
id Symbol AA change Variation ID SNP ID
1HESX1p.Arg160CysVAR_010225rs28936702
2HESX1p.Gln6HisVAR_063230rs121909173
3HESX1p.Ile26ThrVAR_063231rs28936416
4HESX1p.Glu149LysVAR_063232rs104893742
5HESX1p.Ser170LeuVAR_063233rs28936703
6HESX1p.Thr181AlaVAR_063234rs28936704
7HESX1p.Arg109GlnVAR_078488

Clinvar genetic disease variations for Septooptic Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HESX1NM_ 003865.2(HESX1): c.511_ 512delCA (p.Gln171Valfs)deletionPathogenicrs752434998GRCh37Chr 3, 57232271: 57232272
2HESX1NM_ 003865.2(HESX1): c.478C> T (p.Arg160Cys)SNVPathogenicrs28936702GRCh37Chr 3, 57232305: 57232305
3HESX1HESX1, 2-BP INS, 306AGinsertionPathogenic
4HESX1HESX1, 1-BP DEL, 1684GdeletionPathogenic

Copy number variations for Septooptic Dysplasia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
117683535140000054400000Copy numberHESX1Septo-optic dysplasia

Expression for genes affiliated with Septooptic Dysplasia

About this section
Search GEO for disease gene expression data for Septooptic Dysplasia.

Pathways for genes affiliated with Septooptic Dysplasia

About this section

GO Terms for genes affiliated with Septooptic Dysplasia

About this section

Cellular components related to Septooptic Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.2LHX3, POU1F1, PROP1
2nucleusGO:00056347.0HESX1, LHX3, LHX4, POU1F1, PROP1, SIX3

Biological processes related to Septooptic Dysplasia according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1dorsal/ventral pattern formationGO:000995310.5LHX3, PROP1
2adenohypophysis developmentGO:002198410.5POU1F1, PROP1
3somatotropin secreting cell differentiationGO:006012610.4POU1F1, PROP1
4medial motor column neuron differentiationGO:002152610.4LHX3, LHX4
5motor neuron axon guidanceGO:000804510.4LHX3, LHX4
6animal organ morphogenesisGO:000988710.0LHX3, LHX4, PROP1
7negative regulation of neuron differentiationGO:00456659.8SIX3, SOX3
8placenta developmentGO:00018909.8LHX3, LHX4, SOD1
9negative regulation of apoptotic processGO:00430669.5LHX3, LHX4, PROP1, SOD1
10positive regulation of transcription from RNA polymerase II promoterGO:00459449.4LHX3, POU1F1, PROP1, SIX3
11transcription from RNA polymerase II promoterGO:00063669.4LHX3, POU1F1, PROP1, SIX3
12negative regulation of transcription from RNA polymerase II promoterGO:00001229.3HESX1, POU1F1, PROP1, SOX3
13pituitary gland developmentGO:00219838.6HESX1, LHX3, POU1F1, SIX3, SOX3
14regulation of transcription, DNA-templatedGO:00063557.7HESX1, LHX3, LHX4, POU1F1, PROP1, SIX3
15transcription, DNA-templatedGO:00063517.3HESX1, LHX3, LHX4, POU1F1, SIX3, SOX3

Molecular functions related to Septooptic Dysplasia according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor bindingGO:000108510.3LHX3, POU1F1
2RNA polymerase II distal enhancer sequence-specific DNA bindingGO:000098010.2PROP1, SIX3
3chromatin bindingGO:000368210.1HESX1, POU1F1, PROP1
4RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.9HESX1, LHX3, POU1F1
5transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00012059.5PROP1, SIX3
6sequence-specific DNA bindingGO:00435658.1HESX1, LHX3, LHX4, POU1F1, PROP1, SIX3
7DNA bindingGO:00036777.6HESX1, LHX3, LHX4, POU1F1, PROP1, SIX3

Sources for Septooptic Dysplasia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet