PSIS
MCID: PTT041
MIFTS: 42

Pituitary Stalk Interruption Syndrome (PSIS) malady

Categories: Rare diseases, Endocrine diseases, Neuronal diseases

Aliases & Classifications for Pituitary Stalk Interruption Syndrome

Aliases & Descriptions for Pituitary Stalk Interruption Syndrome:

Name: Pituitary Stalk Interruption Syndrome 50 56 69
Ectopic Neurohypophysis 50 56
Psis 50 56

Characteristics:

Orphanet epidemiological data:

56
pituitary stalk interruption syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: early childhood;

HPO:

32
pituitary stalk interruption syndrome:
Mortality/Aging death in infancy


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

Orphanet 56 ORPHA95496
ICD10 via Orphanet 34 E23.6

Summaries for Pituitary Stalk Interruption Syndrome

NIH Rare Diseases : 50 pituitary stalk interruption syndrome (psis) is a congenital abnormality of the pituitary gland  characterized by the triad of a very thin or interrupted pituitary stalk, a misplaced (ectopic) or absent posterior pituitary and a small or absent anterior pituitary, with permanent growth hormone (gh) deficit. signs and symptoms in newborns include low blood sugar levels (hypoglycemia), jaundice, congenital abnormalities and small penis (micropenis) and/or testis that are not in the scrotal sac (cryptorchidism). later in childhood, signs may include short stature, seizures, low arterial pressure (hypotension) and/or intellectual delay. some people can also have vision problems (septooptic dysplasia) and fanconi anemia. the cause of this condition is unknown.  rare mutations in the hesx1, lhx4, otx2, sox3, and prokr2 genes can be the cause in familial cases. the diagnosis is confirmed through mri showing the characteristic findings. treatment is based on replacement of deficient hormones, particularly gh, and should be started at birth to avoid hormone deficiencies and intellectual delay. last updated: 1/28/2017

MalaCards based summary : Pituitary Stalk Interruption Syndrome, also known as ectopic neurohypophysis, is related to 7q11.23 duplication syndrome and rolandic epilepsy, mental retardation, and speech dyspraxia, and has symptoms including seizures, hypothyroidism and intellectual disability. An important gene associated with Pituitary Stalk Interruption Syndrome is HESX1 (HESX Homeobox 1), and among its related pathways/superpathways are Peptide ligand-binding receptors and Ectoderm Differentiation. The drugs Benzocaine and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testis and hypothalamus, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Pituitary Stalk Interruption Syndrome

Diseases related to Pituitary Stalk Interruption Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
id Related Disease Score Top Affiliating Genes
1 7q11.23 duplication syndrome 10.3 GH1 PRL
2 rolandic epilepsy, mental retardation, and speech dyspraxia 10.2 HESX1 SOX3
3 grin2a-related speech disorders and epilepsy 10.2 GH1 PRL
4 cerebral hemisphere lipoma 10.2 GH1 PRL
5 congenital tricuspid stenosis 10.2 GH1 PRL
6 intermittent squint 10.2 GH1 PRL
7 glaucoma, hereditary adult type 1a 10.2 GH1 PRL
8 juvenile myelomonocytic leukemia, somatic nf1-related 10.2 GH1 GHRHR
9 ring dermoid of cornea 10.2 HESX1 SHH
10 nemaline myopathy 11 10.2 CDON TGIF1
11 olfactory nerve neoplasm 10.2 GH1 PRL
12 kindler syndrome 10.1 PRL SOX3
13 protein s deficiency 10.1 GH1 PRL
14 anosmia, isolated congenital 10.1 SHH TGIF1
15 microtia, hearing impairment, and cleft palate 10.1 GH1 GHRHR
16 osseous heteroplasia, progressive 10.1 GH1 PRL
17 gastrointestinal defects and immunodeficiency syndrome 10.1 HESX1 SHH
18 neonatal period electroclinical syndrome 10.1 SHH SOX3
19 pulmonary neuroendocrine tumor 10.1 GH1 PRL
20 idiopathic hypersomnia without long sleep time 10.1 HESX1 LHX4 POU1F1
21 congenital amputation 10.1 HESX1 LHX4 POU1F1
22 early-onset glaucoma 10.1 HESX1 LHX4 POU1F1
23 primary oculocerebral lymphoma 10.1 CDON SHH TGIF1
24 late-onset nephronophthisis 10.1 CDON SHH TGIF1
25 antenatal bartter syndrome 10.1 CDON SHH TGIF1
26 familial infantile bilateral striatal necrosis 10.1 CDON SHH TGIF1
27 atypical hemolytic-uremic syndrome with h factor anomaly 10.1 CDON SHH TGIF1
28 glaucoma 1, open angle, f 10.1 CDON SHH TGIF1
29 mental retardation, x-linked syndromic, christianson type 10.1 POU1F1 SOX3
30 hypoplastic left heart syndrome 10.0 CDON SHH TGIF1
31 thrombophilia 10.0 GH1 GHRHR PRL
32 shaver's disease 10.0 GH1 HESX1 POU1F1
33 angiodysplasia 10.0 SHH SOX3 TGIF1
34 caudal regression syndrome 10.0 GH1 POU1F1 PRL
35 rheumatic encephalitis 10.0 GH1 POU1F1 PRL
36 adamantinous craniopharyngioma 10.0 GH1 POU1F1 PRL
37 aminoacylase 1 deficiency 9.9 HESX1 LHX4 POU1F1 SOX3
38 dykes markes harper syndrome 9.9 GH1 GHRHR
39 capillary lymphangioma 9.9 GH1 PRL PROKR2
40 insulin-like growth factor i 9.9
41 holoprosencephaly 9.9
42 cholestasis 9.9
43 pituitary hypoplasia 9.9
44 growth hormone deficiency 9.9
45 adult i blood group with or without congenital cataract 9.9 GH1 HESX1 POU1F1 PRL
46 hiv-1 9.9
47 pneumonia 9.9
48 microvascular complications of diabetes 3 9.8 GH1 GHRHR HESX1 POU1F1
49 urethra clear cell adenocarcinoma 9.8 GH1 HESX1 LHX4 POU1F1 PRL
50 schizophrenia 9.7

Graphical network of the top 20 diseases related to Pituitary Stalk Interruption Syndrome:



Diseases related to Pituitary Stalk Interruption Syndrome

Symptoms & Phenotypes for Pituitary Stalk Interruption Syndrome

Human phenotypes related to Pituitary Stalk Interruption Syndrome:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 hypothyroidism 56 32 Frequent (79-30%) HP:0000821
3 intellectual disability 56 32 Occasional (29-5%) HP:0001249
4 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
5 global developmental delay 56 32 Occasional (29-5%) HP:0001263
6 short stature 56 32 Very frequent (99-80%) HP:0004322
7 delayed puberty 56 32 Frequent (79-30%) HP:0000823
8 hypoglycemia 56 32 Frequent (79-30%) HP:0001943
9 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
10 primary amenorrhea 56 32 Occasional (29-5%) HP:0000786
11 diabetes insipidus 56 32 Occasional (29-5%) HP:0000873
12 hypoplasia of penis 56 32 Frequent (79-30%) HP:0008736
13 adrenal hypoplasia 56 32 Occasional (29-5%) HP:0000835
14 septo-optic dysplasia 56 32 Occasional (29-5%) HP:0100842
15 ectopic posterior pituitary 56 32 Obligate (100%) HP:0011755
16 death in infancy 56 Occasional (29-5%)
17 abnormality of the hypothalamus-pituitary axis 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Pituitary Stalk Interruption Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.08 CDON GHRHR GPR161 PRL PROKR2 SHH
2 growth/size/body region MP:0005378 10.02 CDON GHRHR GPR161 HESX1 POU1F1 PROKR2
3 endocrine/exocrine gland MP:0005379 10.01 GHRHR HESX1 LHX4 POU1F1 PRL PROKR2
4 craniofacial MP:0005382 10 HESX1 POU1F1 SHH SOX3 TGIF1 CDON
5 embryo MP:0005380 9.91 HESX1 SHH SOX3 TGIF1 CDON GPR161
6 mortality/aging MP:0010768 9.91 SHH SOX3 TGIF1 CDON GPR161 HESX1
7 nervous system MP:0003631 9.9 CDON GHRHR GPR161 HESX1 LHX4 POU1F1
8 limbs/digits/tail MP:0005371 9.72 CDON GHRHR GPR161 SHH TGIF1
9 reproductive system MP:0005389 9.5 TGIF1 GHRHR POU1F1 PRL PROKR2 SHH
10 taste/olfaction MP:0005394 8.8 HESX1 SHH TGIF1

Drugs & Therapeutics for Pituitary Stalk Interruption Syndrome

Drugs for Pituitary Stalk Interruption Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved 1994-09-7, 94-09-7 2337
2
Methyltestosterone Approved 58-18-4 6010
3
Testosterone Approved, Investigational 58-22-0 6013
4 tannic acid Approved, Nutraceutical
5 Hormone Antagonists
6 Hormones
7 Hormones, Hormone Substitutes, and Hormone Antagonists
8 Testosterone 17 beta-cypionate
9
Testosterone enanthate 315-37-7 9416
10 Testosterone undecanoate

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy of Pulsatile GnRH Therapy on Male Patients With Pituitary Stalk Interruption Syndrome Recruiting NCT02705014

Search NIH Clinical Center for Pituitary Stalk Interruption Syndrome

Genetic Tests for Pituitary Stalk Interruption Syndrome

Anatomical Context for Pituitary Stalk Interruption Syndrome

MalaCards organs/tissues related to Pituitary Stalk Interruption Syndrome:

39
Pituitary, Testis, Hypothalamus

Publications for Pituitary Stalk Interruption Syndrome

Articles related to Pituitary Stalk Interruption Syndrome:

(show all 32)
id Title Authors Year
1
Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management. ( 27386973 )
2016
2
Growth Hormone Therapy Benefits Pituitary Stalk Interruption Syndrome Patients with Short Stature: A Retrospective Study of 75 Han Chinese. ( 27190512 )
2016
3
Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome. ( 26829045 )
2016
4
Correlation between Pituitary Stalk Interruption Syndrome and Prokineticin Receptor 2 and Prokineticin 2 Mutations. ( 26956854 )
2016
5
Clinical Features of Pituitary Stalk Interruption Syndrome in 114 Cases. ( 27825409 )
2016
6
Pituitary Stalk Interruption Syndrome Presenting With Growth Retardation. ( 27238408 )
2016
7
Pituitary stalk interruption syndrome: From clinical findings to pathogenesis. ( 27917547 )
2016
8
A nonsense mutation in the hedgehog receptor CDON associated with pituitary stalk interruption syndrome. ( 26529631 )
2015
9
Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation. ( 26562670 )
2015
10
Relationship between pituitary stalk visibility and the severity of hormone deficiencies: Pituitary stalk interruption syndrome revisited. ( 25845766 )
2015
11
Pituitary stalk interruption syndrome presenting as short stature: a case report. ( 25524465 )
2014
12
Whole exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. ( 25322266 )
2014
13
Pituitary stalk interruption syndrome: Case report of three cases with review of literature. ( 25250085 )
2014
14
Pituitary stalk interruption syndrome in 53 postpubertal patients: factors influencing the heterogeneity of its presentation. ( 23308160 )
2013
15
Pituitary stalk interruption syndrome in 59 children: the value of MRI in assessment of pituitary functions. ( 24257915 )
2013
16
Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes. ( 23476075 )
2013
17
Pituitary stalk interruption syndrome. ( 24617191 )
2013
18
Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis. ( 23199197 )
2013
19
Pituitary stalk interruption syndrome in Chinese people: clinical characteristic analysis of 55 cases. ( 23341953 )
2013
20
Magnetic resonance image of sellar region in pituitary stalk interruption syndrome in children and adolescents. ( 21375930 )
2011
21
17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome. ( 21397059 )
2011
22
Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms. ( 21270112 )
2011
23
Pituitary stalk interruption syndrome: diagnostic delay and sensitivity of the auxological criteria of the growth hormone research society. ( 21298012 )
2011
24
The pituitary stalk interruption syndrome: endocrine features and benefits of growth hormone therapy. ( 20044069 )
2010
25
Pituitary stalk interruption syndrome: the role of MRI and review of the literature. ( 24148682 )
2010
26
Diagnosis of growth hormone (GH) deficiency: comparison of pituitary stalk interruption syndrome and transient GH deficiency. ( 19419564 )
2009
27
Factors influencing the growth hormone peak and plasma insulin-like growth factor I in young adults with pituitary stalk interruption syndrome. ( 18620575 )
2008
28
Gonadotrophic status in adolescents with pituitary stalk interruption syndrome. ( 18088398 )
2008
29
Pituitary stalk interruption syndrome (PSIS). ( 17901685 )
2007
30
Long-term evolution of endocrine disorders and effect of GH therapy in 35 patients with pituitary stalk interruption syndrome. ( 16260897 )
2005
31
Growth hormone deficiency associated with pituitary stalk interruption syndrome. ( 9554478 )
1998
32
Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis. ( 9329385 )
1997

Variations for Pituitary Stalk Interruption Syndrome

Expression for Pituitary Stalk Interruption Syndrome

Search GEO for disease gene expression data for Pituitary Stalk Interruption Syndrome.

Pathways for Pituitary Stalk Interruption Syndrome

GO Terms for Pituitary Stalk Interruption Syndrome

Cellular components related to Pituitary Stalk Interruption Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.62 GH1 PRL

Biological processes related to Pituitary Stalk Interruption Syndrome according to GeneCards Suite gene sharing:

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.96 GPR161 HESX1 SHH SOX3 TGIF1
2 positive regulation of cell proliferation GO:0008284 9.85 GHRHR POU1F1 PRL SHH
3 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.83 HESX1 POU1F1 SHH SOX3 TGIF1
4 positive regulation of cAMP biosynthetic process GO:0030819 9.58 GHRHR GPR161
5 lactation GO:0007595 9.57 GHRHR PRL
6 positive regulation of JAK-STAT cascade GO:0046427 9.54 GH1 PRL
7 embryonic morphogenesis GO:0048598 9.52 CDON SHH
8 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.51 GH1 PRL
9 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.49 GH1 GHRHR
10 determination of adult lifespan GO:0008340 9.48 GHRHR POU1F1
11 striated muscle cell differentiation GO:0051146 9.46 CDON SHH
12 positive regulation of multicellular organism growth GO:0040018 9.43 GH1 GHRHR POU1F1
13 adenohypophysis development GO:0021984 9.4 GHRHR POU1F1
14 positive regulation of skeletal muscle tissue development GO:0048643 9.37 CDON SHH
15 pituitary gland development GO:0021983 9.33 HESX1 POU1F1 SOX3
16 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.32 GHRHR POU1F1
17 somatotropin secreting cell development GO:0060133 8.96 GHRHR POU1F1
18 cell fate specification GO:0001708 8.8 CDON POU1F1 SHH

Molecular functions related to Pituitary Stalk Interruption Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 prolactin receptor binding GO:0005148 8.62 GH1 PRL

Sources for Pituitary Stalk Interruption Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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43 MESH via Orphanet
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48 NDF-RT
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70 UMLS via Orphanet
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