MCID: SPT006
MIFTS: 54

Septooptic Dysplasia

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

Aliases & Classifications for Septooptic Dysplasia

MalaCards integrated aliases for Septooptic Dysplasia:

Name: Septooptic Dysplasia 53 12 24 71 14
Septo-Optic Dysplasia 12 72 24 50 36 28 51 41
De Morsier Syndrome 53 12 24 71 51
Growth Hormone Deficiency with Pituitary Anomalies 53 71 13 69
Sod 12 24 71
Pituitary Hormone Deficiency, Combined, 5 53 71
Septo-Optic Dysplasia with Growth Hormone Deficiency 71
Sarcomatous Intrahepatic Cholangiocarcinoma 14
Sarcomatoid Intrahepatic Cholangiocarcinoma 69
Pituitary Hormone Deficiency, Combined 5 28
Kallmann Syndrome 69
Ghdpa 71
Cphd5 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype
diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects)


HPO:

31
septooptic dysplasia:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Septooptic Dysplasia

UniProtKB/Swiss-Prot : 71 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 pituitary stalk interruption syndrome and growth hormone deficiency, and has symptoms including agenesis of corpus callosum, global developmental delay and short stature. An important gene associated with Septooptic Dysplasia is HESX1 (HESX Homeobox 1). The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and skin, and related phenotypes are endocrine/exocrine gland and growth/size/body region

OMIM : 53 Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance. (182230)

NINDS : 50 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.

Disease Ontology : 12 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.

Wikipedia : 72 Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring... more...

Related Diseases for Septooptic Dysplasia

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

(showing 27, show less)
# Related Disease Score Top Affiliating Genes
1 pituitary stalk interruption syndrome 30.4 HESX1 LHX4 POU1F1 SOX3
2 growth hormone deficiency 29.2 HESX1 PROP1 SOX3
3 hypopituitarism 28.2 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
4 sarcomatous intrahepatic cholangiocarcinoma 12.5
5 septo-optic dysplasia spectrum 11.2
6 neonatal thyrotoxicosis 10.2 LHX3 PROP1
7 hypothyroidism, congenital, nongoitrous, 4 10.1 POU1F1 PROP1
8 isolated growth hormone deficiency, type ii 10.0 HESX1 POU1F1
9 cholangiocarcinoma 10.0
10 intrahepatic cholangiocarcinoma 10.0
11 arachnoiditis 10.0
12 arachnoid cysts 10.0
13 headache 10.0
14 pituitary tumors 9.9 POU1F1 PROP1
15 cat eye syndrome 9.9
16 schizencephaly 9.9 HESX1 SIX3
17 kallmann syndrome 9.9 HESX1 LHX3 PROP1
18 isolated growth hormone deficiency, type iii 9.8 HESX1 SOX3
19 craniopharyngioma 9.7 POU1F1 PROP1
20 pituitary gland disease 9.6 HESX1 LHX3 POU1F1 PROP1
21 combined pituitary hormone deficiencies, genetic forms 9.5 HESX1 LHX4 POU1F1 PROP1
22 hypothyroidism due to deficient transcription factors involved in pituitary development or function 9.3 HESX1 LHX3 LHX4 POU1F1 PROP1
23 combined pituitary hormone deficiency 9.2 HESX1 LHX3 LHX4 POU1F1 PROP1
24 pituitary hypoplasia 8.9 HESX1 LHX3 LHX4 POU1F1 SOX3
25 isolated growth hormone deficiency 8.6 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
26 pituitary hormone deficiency, combined, 2 8.6 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
27 borjeson-forssman-lehmann syndrome 8.6 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3

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



Diseases related to Septooptic Dysplasia

Symptoms & Phenotypes for Septooptic Dysplasia

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
optic nerve hypoplasia
hypoplastic optic discs

Neurologic Central Nervous System:
absent septum pellucidum
absent corpus callosum
midline forebrain defects
psychomotor retardation

Skeletal Hands:
supernumerary digits
hypoplastic digits

Laboratory Abnormalities:
low or absent growth hormone (gh)
low or absent thyrotropin (tsh)
low or absent follicle-stimulating hormone (fsh)
low or absent luteinizing hormone (lh)
low or absent adrenocorticotropic hormone (acth)

Endocrine Features:
diabetes insipidus
hypoplasia of anterior pituitary
ectopic or absent posterior pituitary

Growth Height:
short stature (if untreated)

Metabolic Features:
hypoglycemia, neonatal (in some patients)


Clinical features from OMIM:

182230

Human phenotypes related to Septooptic Dysplasia:

31 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 global developmental delay 31 HP:0001263
3 short stature 31 HP:0004322
4 optic nerve hypoplasia 31 HP:0000609
5 diabetes insipidus 31 HP:0000873
6 absent septum pellucidum 31 HP:0001331
7 short finger 31 HP:0009381
8 optic disc hypoplasia 31 HP:0007766
9 growth hormone deficiency 31 HP:0000824
10 anterior pituitary hypoplasia 31 HP:0010627
11 polydactyly 31 HP:0010442

UMLS symptoms related to Septooptic Dysplasia:


malaise, abdominal pain

MGI Mouse Phenotypes related to Septooptic Dysplasia:

43 (showing 7, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.91 HESX1 LHX3 LHX4 POU1F1 PROP1 SOD1
2 growth/size/body region MP:0005378 9.87 HESX1 LHX3 POU1F1 PROP1 SIX3 SOD1
3 craniofacial MP:0005382 9.8 HESX1 LHX3 POU1F1 SIX3 SOX3
4 mortality/aging MP:0010768 9.76 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
5 hearing/vestibular/ear MP:0005377 9.56 HESX1 LHX3 POU1F1 SOD1
6 nervous system MP:0003631 9.56 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
7 reproductive system MP:0005389 9.02 LHX3 POU1F1 PROP1 SOD1 SOX3

Drugs & Therapeutics for Septooptic Dysplasia

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

(showing 12, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 4,Phase 3
2 Hormones Phase 4,Phase 3
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
4
Zinc Approved, Investigational Phase 3 7440-66-6 32051 23994
5 Hypoglycemic Agents Phase 3
6 insulin Phase 3
7 Insulin, Globin Zinc Phase 3
8 Pharmaceutical Solutions Phase 3
9
Melatonin Approved, Nutraceutical, Vet_approved Early Phase 1 73-31-4 896
10 Antioxidants Early Phase 1
11 Central Nervous System Depressants Early Phase 1
12 Protective Agents Early Phase 1

Interventional clinical trials:

(showing 3, show less)

# Name Status NCT ID Phase Drugs
1 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
2 Validation of Macimorelin as a Test for Adult Growth Hormone Deficiency Completed NCT02558829 Phase 3 Macimorelin;Insulin
3 Biological Clock Dysfunction in Optic Nerve Hypoplasia Unknown status NCT00825591 Early Phase 1

Search NIH Clinical Center for Septooptic Dysplasia

Cochrane evidence based reviews: septo-optic dysplasia

Genetic Tests for Septooptic Dysplasia

Genetic tests related to Septooptic Dysplasia:

# Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 5 28
2 Septo-Optic Dysplasia 28

Anatomical Context for Septooptic Dysplasia

MalaCards organs/tissues related to Septooptic Dysplasia:

38
Pituitary, Brain, Skin, Eye, Thyroid, Testes

Publications for Septooptic Dysplasia

Articles related to Septooptic Dysplasia:

(showing 199, show less)
# Title Authors Year
1
Bilateral Exudative Retinal Detachment in Septo-Optic Dysplasia. ( 29317570 )
2017
2
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. ( 26781211 )
2016
3
Gastroschisis Complicated by Septo-Optic Dysplasia: Two Distinct Anomalies with a Common Origin. ( 26929863 )
2016
4
Septooptic Dysplasia with an Associated Arachnoid Cyst. ( 27891281 )
2016
5
Increased Intraocular Pressure in a Patient With Septooptic Dysplasia: A Case Report. ( 27136085 )
2016
6
Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo-Optic Dysplasia. ( 25645515 )
2015
7
Novel application of luciferase assay for the inA vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD). ( 26375424 )
2015
8
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. ( 25848158 )
2015
9
Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study. ( 25879316 )
2015
10
Acceleration of puberty during growth hormone therapy in a child with septo-optic dysplasia. ( 24932606 )
2014
11
Utilizing optical coherence tomography in diagnosing a unique presentation of chiasmal hypoplasia variant of septo-optic dysplasia. ( 24451551 )
2014
12
New insights into septo-optic dysplasia. ( 24802313 )
2014
13
SEPTO-OPTIC DYSPLASIA ASSOCIATED WITH CONGENITAL PERSISTENT FETAL VASCULATURE, RETINAL DETACHMENT, AND GASTROSCHISIS. ( 25397592 )
2014
14
Unilateral closed lip schizencephaly with septo-optic dysplasia. ( 24761255 )
2014
15
Midbrain-hindbrain involvement in septo-optic dysplasia. ( 24763416 )
2014
16
Septo-optic dysplasia plus: a case report. ( 24678945 )
2014
17
A giant renal angiomyolipoma (AML) in a patient with septo-optic dysplasia (SOD). ( 25199882 )
2014
18
Vascular cerebral anomalies associated with Septo-Optic Dysplasia. A case report. ( 23859170 )
2013
19
Septo-optic dysplasia in a patient with an unbalanced 5;12 translocation. ( 23827435 )
2013
20
Diagnosis of septo-optic dysplasia in a neonate with hypernatremia, hypoglycemia, and persistent hypothermia. ( 23813351 )
2013
21
Septo-optic dysplasia: fitting the pieces together. ( 23709551 )
2013
22
Septo-optic dysplasia plus bilateral perisylvian polymicrogyria: a case report. ( 23124487 )
2013
23
The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism. ( 24210356 )
2013
24
Septo-optic dysplasia: illustration of a case. ( 24203814 )
2013
25
Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children. ( 24379556 )
2013
26
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. ( 23386640 )
2013
27
Incidental discovery of subtle-variant septooptic dysplasia in an adult with headaches: a novel case with pathophysiologic implications. ( 23333409 )
2013
28
Septo-optic dysplasia and hemophagocytic lymphohistiocytosis in an infant. ( 22876565 )
2012
29
Anorchia masked by septo-optic dysplasia. ( 22196414 )
2012
30
A case of schizencephaly and septo-optic dysplasia presenting with anterior encephalocele. ( 24665280 )
2012
31
Septo-optic dysplasia-plus and dyskinetic cerebral palsy in a child. ( 21533562 )
2012
32
Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective. ( 22924461 )
2012
33
Novel proximal 14q deletion: clinical and diffusion tensor imaging tractography findings in a patient with lissencephaly, agenesis of the corpus callosum, and septo-optic dysplasia. ( 22194387 )
2012
34
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. ( 22319038 )
2012
35
Septo-optic dysplasia: antenatal risk factors and clinical features in a regional study. ( 22907285 )
2012
36
Disruption of SoxB1-dependent Sonic hedgehog expression in the hypothalamus causes septo-optic dysplasia. ( 22421044 )
2012
37
Septo-optic dysplasia: an autopsy study of a 23-week fetus. ( 22192704 )
2012
38
The association of sphenoidal encephalocele and right anophthalmia with septo-optic dysplasia: a case report. ( 22665004 )
2012
39
Posterior pituitary (PP) evaluation in patients with anterior pituitary defect associated with ectopic PP and septo-optic dysplasia. ( 21750044 )
2011
40
Peripheral retinal nonperfusion in septo-optic dysplasia (de Morsier syndrome). ( 21555628 )
2011
41
Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia. ( 22085631 )
2011
42
Septo-optic dysplasia syndrome with schizencephaly and sudden visual loss. A new observation. ( 21677624 )
2011
43
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. ( 21396578 )
2011
44
Septo-optic dysplasia complicated by infantile spasms and bilateral choroidal fissure arachnoid cysts. ( 20002969 )
2011
45
Peripheral retinal nonperfusion in septo-optic dysplasia. ( 22084233 )
2011
46
Unmasking of Partial Diabetes Insipidus during Stress but Not Maintenance Dosing of Glucocorticoids in an Infant with Septo-Optic Dysplasia. ( 21603211 )
2011
47
Severe hypernatraemia associated with growth hormone replacement therapy in a patient with septo-optic dysplasia. ( 18814036 )
2010
48
Sonographic diagnosis of brain malformations, part 2: holoprosencephaly - hydranencephaly - agenesis of septum pellucidum - schizencephaly - septo-optical dysplasia. ( 21117007 )
2010
49
Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency. ( 20694410 )
2010
50
Focal congenital hyperinsulinism in a patient with septo-optic dysplasia. ( 20842182 )
2010
51
Magnetic resonance diffusion tensor imaging (MRDTI) and tractography in children with septo-optic dysplasia. ( 19998031 )
2010
52
Septo-optic dysplasia plus: a patient with diabetes insipidus. ( 20682211 )
2010
53
Septo-optic dysplasia. ( 19623216 )
2010
54
Bilateral anophthalmia with septo-optic dysplasia. ( 21217902 )
2010
55
Novel human pathological mutations. Gene symbol: HESX1. Disease: septo-optic dysplasia. ( 21488242 )
2010
56
Septo-optic dysplasia plus: clinical presentation and magnetic resonance imaging findings. ( 20464308 )
2010
57
Septo-optic dysplasia. ( 21037540 )
2010
58
Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia. ( 20370811 )
2010
59
Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia. ( 19940763 )
2010
60
Septo-optic dysplasia. ( 20602044 )
2010
61
Septo-optic dysplasia and associations with amyoplasia and gastroschisis. ( 20589918 )
2010
62
Septo-optic dysplasia. ( 21073116 )
2010
63
Rest-activity disturbances in children with septo-optic dysplasia characterized by actigraphy and 24-hour plasma melatonin profiles. ( 20660044 )
2010
64
See-saw nystagmus in a patient with septo-optic dysplasia. ( 19726951 )
2009
65
Two cases of septo-optic dysplasia-plus syndrome with epilepsy and mirror hand movements. ( 19268717 )
2009
66
Monocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo-optic dysplasia. ( 18637109 )
2009
67
Septo-optic dysplasia with olfactory tract hypoplasia. ( 21887179 )
2009
68
Septo-optic dysplasia with encephalocele. ( 19766496 )
2009
69
Recurrent septo-optic dysplasia accompanied by omphalocele: a case report. ( 19270460 )
2009
70
Self-aggression and congenital clubfoot: additional features to the septo-optic dysplasia complex. ( 19547828 )
2009
71
Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes. ( 19623038 )
2009
72
Septo-optic dysplasia with bilateral congenital corneal anesthesia. ( 19840731 )
2009
73
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism. ( 19093031 )
2008
74
A patient with septo-optic dysplasia plus. ( 17761198 )
2008
75
Electroconvulsive therapy of a depressed patient with septo-optic dysplasia. ( 18451203 )
2008
76
Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. ( 18627063 )
2008
77
Refining clinical phenotypes in septo-optic dysplasia based on MRI findings. ( 18231810 )
2008
78
Prenatal diagnosis of schizencephaly with septo-optic dysplasia by ultrasound and magnetic resonance imaging. ( 18840179 )
2008
79
Septo-optic dysplasia and psychiatric disorders: a case report. ( 19057177 )
2008
80
Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia. ( 18852528 )
2008
81
Septo-optic dysplasia - novel insights into the aetiology. ( 18259104 )
2008
82
Septo-optic dysplasia with a transverse limb defect. ( 18388794 )
2008
83
Genetics of septo-optic dysplasia. ( 17587179 )
2007
84
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. ( 17148560 )
2007
85
Septo-optic dysplasia associated with abnormal pubertal development. ( 17624226 )
2007
86
Septo-optic dysplasia (de Morsier syndrome). ( 18018427 )
2007
87
Monocular temporal hemianopia with septo-optic dysplasia. ( 16966940 )
2006
88
Septo-optic dysplasia complex: a heterogeneous malformation syndrome. ( 16376284 )
2006
89
Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. ( 16423603 )
2006
90
Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. ( 15670191 )
2005
91
Maternal age in patients with septo-optic dysplasia. ( 15921176 )
2005
92
Prenatal diagnosis of absence of the septum pellucidum associated with septo-optic dysplasia. ( 15593257 )
2005
93
CNS findings in three cases of septo-optic dysplasia, including one with semilobar holoprosencephaly. ( 15942946 )
2005
94
Diffusion-tensor imaging in septo-optic dysplasia. ( 15160259 )
2004
95
Congenital third nerve palsy in septo-optic dysplasia. ( 15205251 )
2004
96
Septo-optic dysplasia and dentato-olivary dysplasia in a case of 18q deletion/3p trisomy. ( 14986931 )
2004
97
The syndrome of septo-optic dysplasia in Saudi children. ( 15573200 )
2004
98
Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis. ( 14755460 )
2004
99
Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome. ( 15368481 )
2004
100
Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report. ( 12868472 )
2003
101
Septo-optic dysplasia plus. ( 12849124 )
2003
102
Septo-optic dysplasia plus: case report. ( 14513179 )
2003
103
Septo-optic dysplasia: a literature review. ( 12877274 )
2003
104
Septo-optic dysplasia with congenital hepatic fibrosis. ( 14580661 )
2003
105
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia. ( 14557462 )
2003
106
Case 12. Absent septum or septo-optic dysplasia (magnetic resonance imaging not yet performed). ( 12008837 )
2002
107
Early-onset of septo-optic dysplasia. A case report with follow-up. ( 11862167 )
2002
108
Septo-optic dysplasia/optic nerve hypoplasia: data from the National Cooperative Growth Study (NCGS). ( 12092683 )
2002
109
Septo-optic dysplasia and digital anomalies: another observation. ( 11891695 )
2002
110
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation. ( 11891837 )
2002
111
Septo-optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy. ( 12453085 )
2002
112
HESX1 and Septo-Optic Dysplasia. ( 12424431 )
2002
113
Auxological, ophthalmological, neurological and MRI findings in 25 Austrian patients with septo-optic dysplasia (SOD). Preliminary data. ( 12435890 )
2002
114
Septooptic dysplasia. ( 12733175 )
2002
115
Septo-optic dysplasia with olfactory tract and bulb hypoplasia. ( 11753263 )
2001
116
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. ( 11136712 )
2001
117
Septo-optic dysplasia as a manifestation of valproic acid embryopathy. ( 11460259 )
2001
118
Arrhythmicity in a child with septo-optic dysplasia and establishment of sleep-wake cyclicity with melatonin. ( 11562632 )
2001
119
Septo-optic dysplasia and unexpected adult death--an autopsy approach. ( 11451077 )
2001
120
Septo-optic dysplasia plus: a spectrum of malformations of cortical development. ( 10762523 )
2000
121
Septo-optic dysplasia in combination with a pigmented skin lesion: a case report with nosological discussion. ( 11008264 )
2000
122
Children with septo-optic dysplasia - how to improve and sharpen the diagnosis. ( 10895038 )
2000
123
Molecular genetics of septo-optic dysplasia. ( 10895039 )
2000
124
Septo-optic dysplasia with unilateral optic nerve hypoplasia: case report. ( 10916232 )
2000
125
HESX1: a novel gene implicated in a familial form of septo-optic dysplasia. ( 10626545 )
1999
126
Why is the retention of gonadotrophin secretion common in children with panhypopituitarism due to septo-optic dysplasia? ( 10037251 )
1999
127
Mutations in the homeobox gene HESX1/Hesx1 associated with septo- optic dysplasia in human and mouse. ( 9620767 )
1998
128
Hypothesis: septo-optic dysplasia is a vascular disruption sequence. ( 9548577 )
1998
129
Two cases of Septo-optic dysplasia (SOD). ( 9790258 )
1998
130
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. ( 9541113 )
1998
131
Normal growth in a patient with septo-optic dysplasia despite both growth hormone and IGF-I deficiency. ( 9642632 )
1998
132
Hypothesis: septo-optic dysplasia is a vascular disruption sequence. ( 9096749 )
1997
133
Normal MR appearances of the posterior pituitary in central diabetes insipidus associated with septo-optic dysplasia. ( 8995167 )
1997
134
Sudden death in septo-optic dysplasia. Report of 5 cases. ( 9006427 )
1997
135
Endocrine disorders in septo-optic dysplasia (De Morsier syndrome)--evaluation and follow up of 18 patients. ( 8929724 )
1996
136
Septo-optic dysplasia. ( 8979557 )
1996
137
Septo-optic dysplasia (de Morsier's syndrome) associated with total callosal absence. A new type of the anomaly. ( 8948159 )
1996
138
Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia). ( 9107111 )
1996
139
Evidence for possible Mendelian inheritance of septo-optic dysplasia. ( 8696006 )
1996
140
Septo-optic dysplasia associated with bilateral complex microphthalmos. ( 8905851 )
1996
141
Sotos syndrome with septo-optic dysplasia. ( 8910820 )
1996
142
Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome. ( 8960322 )
1996
143
Septo-optic dysplasia. ( 7493116 )
1994
144
Diabetes insipidus with impaired osmotic regulation in septo-optic dysplasia and agenesis of the corpus callosum. ( 8110009 )
1994
145
Holoprosencephaly and septo-optic dysplasia. ( 8081628 )
1994
146
Septo-optic dysplasia: the clinical insignificance of an absent septum pellucidum. ( 8504891 )
1993
147
Radiological cases of the month. Septo-optic dysplasia (De Morsier syndrome). ( 8418604 )
1993
148
Septo-optic dysplasia associated with polyendocrine dysfunction. ( 8501404 )
1993
149
Infantile spasms in a patient with septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst. ( 1324816 )
1992
150
Septo-optic dysplasia and growth hormone deficiency: accelerated pubertal maturation during GH therapy. ( 1392395 )
1992
151
Septo-optic dysplasia (case report). ( 1810885 )
1991
152
Sonographic findings in septo-optic dysplasia in the fetus and newborn infant. ( 2222623 )
1990
153
Septo-optic dysplasia in two siblings. ( 2346191 )
1990
154
Growth hormone deficiency of hypothalamic origin in septo-optic dysplasia. ( 2079074 )
1990
155
Schizencephaly and septo-optic dysplasia: separate entities. ( 2602009 )
1989
156
Septo-optic dysplasia: MR imaging. ( 2928524 )
1989
157
Puberty in the syndrome of septo-optic dysplasia. ( 2916489 )
1989
158
Septo-optic dysplasia (SOD) or DeMorsier syndrome. ( 2529272 )
1989
159
Septo-optic dysplasia: report of a case. ( 2637588 )
1989
160
Septo-optic-dysplasia-schizencephaly. Radiographic and clinical features. ( 2654850 )
1989
161
Apert syndrome associated with septo-optic dysplasia. ( 2604803 )
1989
162
Magnetic resonance imaging of pituitary stalk hypoplasia. A discrete midline anomaly associated with endocrine abnormalities in septo-optic dysplasia. ( 2803098 )
1989
163
Septo-optic dysplasia with infantile spasms. ( 3233109 )
1988
164
Septo-optic dysplasia: recognition of causes of false-positive hepatobiliary scintigraphy in neonatal jaundice. ( 3585504 )
1987
165
Anaesthesia and septo-optic dysplasia. Implications of missed diagnosis in the peri-operative period. ( 3434762 )
1987
166
Ultrasound evaluation of septo-optic dysplasia in the new born. Report of a case. ( 3540712 )
1986
167
Hypothalamic defects in two adult patients with septo-optic dysplasia. ( 3751451 )
1986
168
Neuroendocrine study of a male infant with septo-optic dysplasia. ( 3877029 )
1985
169
Septooptic dysplasia (de Morsier syndrome). ( 3999191 )
1985
170
Extreme variant of septo-optic dysplasia. ( 3934619 )
1985
171
Septo-optic dysplasia and median cleft face syndrome. ( 6741901 )
1984
172
Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia. ( 6093418 )
1984
173
Specific spatial defect in a child with septo-optic dysplasia. ( 6734957 )
1984
174
Computed tomographic findings in septo-optic dysplasia: discordance between clinical and radiological findings. ( 6462434 )
1984
175
Septo-optic dysplasia with digital anomalies. ( 6502352 )
1984
176
The endocrine spectrum of septo-optic dysplasia. ( 6488662 )
1984
177
Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia. ( 6846278 )
1983
178
Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case. ( 7072487 )
1982
179
Septo-optic dysplasia in an infant of a diabetic mother. ( 7271539 )
1981
180
Maternal factors in septo-optic dysplasia. ( 480051 )
1979
181
Maternal age re septo-optic dysplasia. ( 758405 )
1979
182
CT of septo-optic dysplasia. ( 116510 )
1979
183
Septo-optic dysplasia and maternal age. ( 87980 )
1979
184
Sexual precocity in association with septo-optic dysplasia and hypothalamic hypopituitarism. ( 205644 )
1978
185
Pituitary function in a patient with septo-optic dysplasia and pituitary dwarfism (Kaplan-Grumbach-Hoyt syndrome). ( 679955 )
1978
186
A case of septo-optic dysplasia. ( 102048 )
1978
187
Septo-optic dysplasia (de Morsier syndrome). ( 308321 )
1978
188
Blindness and hypoglycemia: growth hormone deficiency with septo-optic dysplasia. ( 628902 )
1978
189
Septo-optic dysplasia: developmental or acquired abnormality? A case report. ( 757076 )
1978
190
Evidence for a hypothalamic defect in septo-optic dysplasia. ( 677986 )
1978
191
Septo-optic dysplasia: a case report. ( 897950 )
1977
192
Septo-optic dysplasia associated with see-saw nystagmus. ( 1115674 )
1975
193
Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism. ( 1119454 )
1975
194
Septo-optic dysplasia: clinical and embryological aspects. ( 4442662 )
1974
195
Septo-optic dysplasia. ( 5076259 )
1972
196
Septo-optic dysplasia. ( 4642811 )
1972
197
Septo-optic dysplasia with growth hormone deficiency (De Morsier syndrome). ( 4647051 )
1972
198
Septo-optic dysplasia and pituitary dwarfism. ( 4191531 )
1970
199
Septo-optic dysplasia. ( 4192517 )
1970

Variations for Septooptic Dysplasia

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

71 (showing 6, show less)
# Symbol AA change Variation ID SNP ID
1 HESX1 p.Arg160Cys VAR_010225 rs28936702
2 HESX1 p.Gln6His VAR_063230 rs121909173
3 HESX1 p.Ile26Thr VAR_063231 rs28936416
4 HESX1 p.Glu149Lys VAR_063232 rs104893742
5 HESX1 p.Ser170Leu VAR_063233 rs28936703
6 HESX1 p.Thr181Ala VAR_063234 rs28936704

ClinVar genetic disease variations for Septooptic Dysplasia:

6 (showing 11, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 HESX1 NM_003865.2(HESX1): c.511_512delCA (p.Gln171Valfs) deletion Pathogenic rs752434998 GRCh37 Chromosome 3, 57232271: 57232272
2 HESX1 NM_003865.2(HESX1): c.478C> T (p.Arg160Cys) single nucleotide variant Pathogenic rs28936702 GRCh37 Chromosome 3, 57232305: 57232305
3 HESX1 NM_003865.2(HESX1): c.541A> G (p.Thr181Ala) single nucleotide variant Pathogenic rs28936704 GRCh37 Chromosome 3, 57232242: 57232242
4 HESX1 HESX1, 2-BP INS, 306AG insertion Pathogenic
5 HESX1 NM_003865.2(HESX1): c.77T> C (p.Ile26Thr) single nucleotide variant Pathogenic rs28936416 GRCh37 Chromosome 3, 57233870: 57233870
6 HESX1 HESX1, 1-BP DEL, 1684G deletion Pathogenic
7 HESX1 NM_003865.2(HESX1): c.450_451delCA (p.Asp150Glufs) deletion Pathogenic rs587776664 GRCh37 Chromosome 3, 57232427: 57232428
8 HESX1 NM_003865.2(HESX1): c.357+2T> C single nucleotide variant Pathogenic rs575112817 GRCh37 Chromosome 3, 57232779: 57232779
9 HESX1 NM_003865.2(HESX1): c.445G> A (p.Glu149Lys) single nucleotide variant Pathogenic rs104893742 GRCh37 Chromosome 3, 57232433: 57232433
10 HESX1 NM_003865.2(HESX1): c.18G> C (p.Gln6His) single nucleotide variant Pathogenic rs121909173 GRCh37 Chromosome 3, 57233929: 57233929
11 RALGAPB NM_020336.3(RALGAPB): c.2324G> T (p.Arg775Leu) single nucleotide variant Likely pathogenic rs758022116 GRCh37 Chromosome 20, 37163795: 37163795

Copy number variations for Septooptic Dysplasia from CNVD:

7 (showing 1, show less)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 176835 3 51400000 54400000 Copy number HESX1 Septo-optic dysplasia

Expression for Septooptic Dysplasia

Search GEO for disease gene expression data for Septooptic Dysplasia.

Pathways for Septooptic Dysplasia

GO Terms for Septooptic Dysplasia

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.23 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
2 transcription factor complex GO:0005667 9.13 LHX3 POU1F1 PROP1

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

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.99 HESX1 LHX3 LHX4 POU1F1 SIX3 SOX3
2 regulation of transcription, DNA-templated GO:0006355 9.91 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 LHX3 LHX4 POU1F1 PROP1 SIX3
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.83 HESX1 POU1F1 PROP1 SOX3
5 negative regulation of apoptotic process GO:0043066 9.78 LHX3 LHX4 PROP1 SOD1
6 transcription by RNA polymerase II GO:0006366 9.65 LHX3 LHX4 POU1F1 PROP1 SIX3
7 animal organ morphogenesis GO:0009887 9.61 LHX3 LHX4 PROP1
8 negative regulation of neuron differentiation GO:0045665 9.55 SIX3 SOX3
9 dorsal/ventral pattern formation GO:0009953 9.54 LHX3 PROP1
10 motor neuron axon guidance GO:0008045 9.49 LHX3 LHX4
11 adenohypophysis development GO:0021984 9.4 POU1F1 PROP1
12 placenta development GO:0001890 9.33 LHX3 LHX4 SOD1
13 somatotropin secreting cell differentiation GO:0060126 9.32 POU1F1 PROP1
14 pituitary gland development GO:0021983 9.02 HESX1 LHX3 POU1F1 SIX3 SOX3
15 medial motor column neuron differentiation GO:0021526 8.96 LHX3 LHX4

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

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.54 HESX1 POU1F1 PROP1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 HESX1 LHX3 POU1F1
3 DNA binding GO:0003677 9.5 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3
4 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.4 PROP1 SIX3
5 RNA polymerase II transcription factor binding GO:0001085 9.26 LHX3 POU1F1
6 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding GO:0001205 9.16 PROP1 SIX3
7 sequence-specific DNA binding GO:0043565 9.1 HESX1 LHX3 LHX4 POU1F1 PROP1 SIX3

Sources for Septooptic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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