MCID: SPT006
MIFTS: 34

Septooptic Dysplasia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Endocrine diseases

Aliases & Classifications for Septooptic Dysplasia

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Aliases & Descriptions for Septooptic Dysplasia:

Name: Septooptic Dysplasia 49 45 22 23 67
Septo-Optic Dysplasia 45 23 46 47 24
De Morsier Syndrome 45 22 23 47 67
Growth Hormone Deficiency with Pituitary Anomalies 49 11 67 65
Sod 45 23 67
Septo-Optic Dysplasia with Growth Hormone Deficiency 45 67
 
Pituitary Hormone Deficiency, Combined, 5 49 67
Hypopituitarism and Septooptic 'dysplasia' 45
De Morsier's Syndrome 46
Kallmann Syndrome 65
Cphd5 67
Ghdpa 67

Characteristics:

HPO:

61
septooptic dysplasia:
Onset and clinical course: phenotypic variability
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 182230
ICD1027 Q04.4
UMLS65 C2750027

Summaries for Septooptic Dysplasia

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NIH Rare Diseases:45 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

MalaCards based summary: Septooptic Dysplasia, also known as septo-optic dysplasia, is related to pagon stephan syndrome and hesx1-related combined pituitary hormone deficiency, and has symptoms including septo-optic dysplasia, optic atrophy and visual impairment. An important gene associated with Septooptic Dysplasia is HESX1 (HESX Homeobox 1). Affiliated tissues include pituitary, brain and skin, and related mouse phenotypes are reproductive system and hearing/vestibular/ear.

Genetics Home Reference:23 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:49 Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve... (182230) more...

NINDS:46 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.

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Septooptic Dysplasia

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1pagon stephan syndrome11.7
2hesx1-related combined pituitary hormone deficiency11.7
3muscular dystrophy10.6
4lung cancer10.5
5breast cancer10.5
6thyroiditis10.5
7pituitary hormone deficiency, combined, 110.5
8neuroblastoma10.4
9colorectal cancer10.4
10prostate cancer10.4
11coronary artery disease10.4
12hepatitis10.4
13leukemia10.4
14lymphoma10.4
15lymphoblastic leukemia10.4
16emery-dreifuss muscular dystrophy10.4
17esophagitis10.4
18ovarian cancer10.4
19hereditary angioedema10.4
20angioedema10.4
21myocardial infarction10.3
22prostatitis10.3
23histoplasmosis10.3
24anteroseptal myocardial infarction10.3
25acquired immunodeficiency syndrome10.3
26orthostatic proteinuria10.3
27bone diseases9.9GH1, SOD1
28posterior uveitis9.9LHX3, PROP1
29postherpetic neuralgia9.8GH1, PROP1
30growth retardation alopecia pseudoanodontia optic9.8GH1, HESX1
31craniopharyngioma9.7GH1, POU1F1
32infiltrating angiolipoma9.6HESX1, LHX3, PROP1
33aortic valve atresia9.6HESX1, POU1F1, PROP1
34isolated levocardia9.5GH1, HESX1, POU1F1
35female urethral cancer9.5HESX1, LHX3, POU1F1
36hypothryoidism, congenital, nongoitrous 49.5GH1, POU1F1, PROP1
37eyelid disease9.4GH1, HESX1, LHX3, PROP1
38inherited predisposition to essential thrombocythemia9.2HESX1, LHX3, POU1F1, PROP1
39complement component 8 deficiency9.2HESX1, LHX3, POU1F1, PROP1
40pituitary adenoma, growth hormone-secreting 29.2HESX1, LHX3, POU1F1, PROP1
41acute myeloid leukemia, flt3-related8.9GH1, HESX1, LHX3, POU1F1, PROP1
42molybdenum cofactor deficiency b8.9GH1, HESX1, LHX3, POU1F1, PROP1
43strictly posterior acute myocardial infarction8.9GH1, HESX1, LHX3, POU1F1, PROP1
44septooptic dysplasia8.6GH1, HESX1, LHX3, POU1F1, PROP1, SOD1

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



Diseases related to septooptic dysplasia

Symptoms for Septooptic Dysplasia

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Symptoms by clinical synopsis from OMIM:

182230

Clinical features from OMIM:

182230

HPO human phenotypes related to Septooptic Dysplasia:

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

Drugs & Therapeutics for Septooptic Dysplasia

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HormonesPhase 4, Phase 311748
2
ZincapprovedPhase 314777440-66-623994, 32051
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
3insulinPhase 34278
4Pharmaceutical SolutionsPhase 37004
5Insulin, Globin ZincPhase 34278
6Hypoglycemic AgentsPhase 34503
7Hormone AntagonistsPhase 310002
8Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 39988
9
Melatoninapproved, nutraceuticalPhase 023473-31-4896
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 AgentsPhase 05651
11AntioxidantsPhase 02442
12Central Nervous System DepressantsPhase 010016

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 DeficiencyRecruitingNCT02558829Phase 3
3Biological Clock Dysfunction in Optic Nerve HypoplasiaRecruitingNCT00825591Phase 0

Search NIH Clinical Center for Septooptic Dysplasia

Genetic Tests for Septooptic Dysplasia

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Genetic tests related to Septooptic Dysplasia:

id Genetic test Affiliating Genes
1 Septooptic Dysplasia22 HESX1

Anatomical Context for Septooptic Dysplasia

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MalaCards organs/tissues related to Septooptic Dysplasia:

33
Pituitary, Brain, Skin, Eye, Thyroid, Cerebellum, Testes

Animal Models for Septooptic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Septooptic Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.5LHX3, POU1F1, PROP1, SOD1
2MP:00053778.4HESX1, LHX3, POU1F1, SOD1
3MP:00053798.1HESX1, LHX3, POU1F1, PROP1, SOD1
4MP:00036318.0HESX1, LHX3, POU1F1, PROP1, SOD1
5MP:00053787.9HESX1, LHX3, POU1F1, PROP1, SOD1

Publications for Septooptic Dysplasia

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Articles related to Septooptic Dysplasia:

idTitleAuthorsYear
1
Ectopic acromegaly due to a GH-secreting pituitary adenoma in the sphenoid sinus: a case report and review of the literature. (24119925)
2013
2
Endothelial cell surface expression of protein disulfide isomerase activates I^1 and I^3 integrins and facilitates dengue virus infection. (22422622)
2012
3
Characterization of a novel deletion causing beta-thalassemia major in an Afghan family. (20113295)
2010
4
Distribution and circadian expression of dbp in SCN and extra-SCN areas in the mouse brain. (10650888)
2000
5
Forty-five-year follow-up of a childhood leukemia survivor: serendipity or karma? (10491554)
1999

Variations for Septooptic Dysplasia

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

67
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 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)single nucleotide variantPathogenicrs28936702GRCh37Chr 3, 57232305: 57232305
3HESX1HESX1, 2-BP INS, 306AGinsertionPathogenic
4HESX1HESX1, 1-BP DEL, 1684GdeletionPathogenic

Expression for genes affiliated with Septooptic Dysplasia

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Search GEO for disease gene expression data for Septooptic Dysplasia.

Pathways for genes affiliated with Septooptic Dysplasia

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GO Terms for genes affiliated with Septooptic Dysplasia

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

idNameGO IDScoreTop Affiliating Genes
1placenta developmentGO:00018909.8LHX3, SOD1
2adenohypophysis developmentGO:00219849.8POU1F1, PROP1
3positive regulation of multicellular organism growthGO:00400189.6GH1, POU1F1
4positive regulation of transcription from RNA polymerase II promoterGO:00459448.5LHX3, POU1F1, PROP1

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

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00036829.1POU1F1, PROP1

Sources for Septooptic Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet