MCID: SPT006
MIFTS: 36

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 50 46 23 24 68
Septo-Optic Dysplasia 46 24 47 25 48 37
De Morsier Syndrome 46 23 24 68 48
Growth Hormone Deficiency with Pituitary Anomalies 50 68 12
Sod 46 24 68
Septo-Optic Dysplasia with Growth Hormone Deficiency 46 68
 
Pituitary Hormone Deficiency, Combined, 5 50 68
Hypopituitarism and Septooptic 'dysplasia' 46
De Morsier's Syndrome 47
Kallmann Syndrome 66
Ghdpa 68
Cphd5 68

Characteristics:

HPO:

62
septooptic dysplasia:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 182230
ICD1028 Q04.4

Summaries for Septooptic Dysplasia

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NIH Rare Diseases:46 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 visual impairment, optic atrophy and septo-optic dysplasia. An important gene associated with Septooptic Dysplasia is HESX1 (HESX Homeobox 1). Affiliated tissues include pituitary, brain and skin.

UniProtKB/Swiss-Prot:68 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.

NINDS:47 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.

Genetics Home Reference:24 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:50 Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve... (182230) more...

Related Diseases for Septooptic Dysplasia

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

idRelated DiseaseScoreTop Affiliating Genes
1pagon stephan syndrome11.3
2hesx1-related combined pituitary hormone deficiency11.3
3optic nerve hypoplasia10.5
4schizencephaly10.4
5hypopituitarism10.2
6pituitary hormone deficiency, combined, 110.1
7headache10.0
8periventricular nodular heterotopia10.0
9cat eye syndrome9.9
10growth hormone deficiency9.9

Graphical network of 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 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 tracheoesophageal fistula occasional (7.5%) HP:0002575
23 abnormality of the sense of smell occasional (7.5%) HP:0004408
24 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
25 maternal diabetes occasional (7.5%) HP:0009800
26 abnormal renal physiology occasional (7.5%) HP:0012211
27 cognitive impairment occasional (7.5%) HP:0100543
28 optic nerve hypoplasia HP:0000609
29 growth hormone deficiency HP:0000824
30 diabetes insipidus HP:0000873
31 global developmental delay HP:0001263
32 agenesis of corpus callosum HP:0001274
33 absent septum pellucidum HP:0001331
34 optic disc hypoplasia HP:0007766
35 short finger HP:0009381
36 polydactyly HP:0010442
37 anterior pituitary hypoplasia HP:0010627

UMLS symptoms related to Septooptic Dysplasia:


anosmia, sense of smell impaired

Drugs & Therapeutics for Septooptic Dysplasia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1insulinPhase 34401
2
ZincPhase 321547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
3
MelatoninNutraceuticalPhase 024573-31-4896
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

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


Cochrane evidence based reviews: septo-optic dysplasia

Genetic Tests for Septooptic Dysplasia

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Genetic tests related to Septooptic Dysplasia:

id Genetic test Affiliating Genes
1 Septo-Optic Dysplasia25
2 Septooptic Dysplasia23 HESX1

Anatomical Context for Septooptic Dysplasia

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MalaCards organs/tissues related to Septooptic Dysplasia:

34
Pituitary, Brain, Skin, Thyroid, Eye, Cerebellum, Testes

Animal Models for Septooptic Dysplasia or affiliated genes

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Publications for Septooptic Dysplasia

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Articles related to Septooptic Dysplasia:

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

Variations for Septooptic Dysplasia

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

68
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

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

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

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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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Sources for Septooptic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet