MCID: SPT006
MIFTS: 34

Septooptic Dysplasia malady

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

Aliases & Classifications for Septooptic Dysplasia

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Aliases & Descriptions for Septooptic Dysplasia:

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

Characteristics:

HPO:

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

Classifications:



External Ids:

OMIM52 182230

Summaries for Septooptic Dysplasia

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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 growth hormone deficiency with pituitary anomalies, is related to hesx1-related combined pituitary hormone deficiency and septo-optic dysplasia spectrum, 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 thyroid.

OMIM:52 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
1hesx1-related combined pituitary hormone deficiency11.2
2septo-optic dysplasia spectrum11.2
3pituitary hormone deficiency, combined, 111.0
4hypopituitarism10.1
5arachnoiditis9.9
6arachnoid cysts9.9
7headache9.9
8cat eye syndrome9.8
9growth hormone deficiency9.8

Graphical network of diseases related to Septooptic Dysplasia:



Diseases related to septooptic dysplasia

Symptoms & Phenotypes for Septooptic Dysplasia

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Symptoms by clinical synopsis from OMIM:

182230

Clinical features from OMIM:

182230

Human phenotypes related to Septooptic Dysplasia:

 64 (show all 36)
id Description HPO Frequency HPO Source Accession
1 visual impairment64 hallmark (90%) HP:0000505
2 optic atrophy64 hallmark (90%) HP:0000648
3 septo-optic dysplasia64 hallmark (90%) HP:0100842
4 cryptorchidism64 typical (50%) HP:0000028
5 cleft palate64 typical (50%) HP:0000175
6 strabismus64 typical (50%) HP:0000486
7 nystagmus64 typical (50%) HP:0000639
8 anterior hypopituitarism64 typical (50%) HP:0000830
9 seizures64 typical (50%) HP:0001250
10 short stature64 typical (50%) HP:0004322
11 hemiplegia/hemiparesis64 typical (50%) HP:0004374
12 aplasia/hypoplasia of the corpus callosum64 typical (50%) HP:0007370
13 hypoplasia of penis64 typical (50%) HP:0008736
14 sensorineural hearing impairment64 occasional (7.5%) HP:0000407
15 autism64 occasional (7.5%) HP:0000717
16 diabetes insipidus64 occasional (7.5%) HP:0000873
17 dry skin64 occasional (7.5%) HP:0000958
18 hypohidrosis64 occasional (7.5%) HP:0000966
19 obesity64 occasional (7.5%) HP:0001513
20 constipation64 occasional (7.5%) HP:0002019
21 sleep disturbance64 occasional (7.5%) HP:0002360
22 tracheoesophageal fistula64 occasional (7.5%) HP:0002575
23 abnormality of the sense of smell64 occasional (7.5%) HP:0004408
24 aplasia/hypoplasia of the cerebellum64 occasional (7.5%) HP:0007360
25 maternal diabetes64 occasional (7.5%) HP:0009800
26 abnormal renal physiology64 occasional (7.5%) HP:0012211
27 cognitive impairment64 occasional (7.5%) HP:0100543
28 optic nerve hypoplasia64 HP:0000609
29 growth hormone deficiency64 HP:0000824
30 global developmental delay64 HP:0001263
31 agenesis of corpus callosum64 HP:0001274
32 absent septum pellucidum64 HP:0001331
33 optic disc hypoplasia64 HP:0007766
34 short finger64 HP:0009381
35 polydactyly64 HP:0010442
36 anterior pituitary hypoplasia64 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):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormone AntagonistsPhase 4, Phase 312778
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 312767
3HormonesPhase 4, Phase 313979
4
ZincapprovedPhase 322317440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
5Pharmaceutical SolutionsPhase 37793
6Insulin, Globin ZincPhase 34523
7insulinPhase 34524
8Hypoglycemic AgentsPhase 35733
9
Melatoninapproved, nutraceutical, vet_approvedEarly Phase 125573-31-4896
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 17190
11AntioxidantsEarly Phase 12928
12Central Nervous System DepressantsEarly Phase 112806

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 DeficiencyActive, not recruitingNCT02558829Phase 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

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Genetic tests related to Septooptic Dysplasia:

id Genetic test Affiliating Genes
1 Septooptic Dysplasia24 HESX1

Anatomical Context for Septooptic Dysplasia

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MalaCards organs/tissues related to Septooptic Dysplasia:

36
Pituitary, Brain, Thyroid, Cerebellum, Testes, Skin

Publications for Septooptic Dysplasia

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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

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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

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, 306AGinsertionPathogenicChr na, -1: -1
4HESX1HESX1, 1-BP DEL, 1684GdeletionPathogenicChr na, -1: -1

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
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