MCID: PTT041
MIFTS: 44

Pituitary Stalk Interruption Syndrome

Categories: Rare diseases, Endocrine diseases, Neuronal diseases

Aliases & Classifications for Pituitary Stalk Interruption Syndrome

MalaCards integrated aliases 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


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 central congenital hypothyroidism and rolandic epilepsy, mental retardation, and speech dyspraxia, and has symptoms including ectopic posterior pituitary, failure to thrive and short stature. 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 Testosterone and Benzocaine 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 63)
id Related Disease Score Top Affiliating Genes
1 central congenital hypothyroidism 11.1
2 rolandic epilepsy, mental retardation, and speech dyspraxia 10.6 HESX1 SOX3
3 g6pc3 deficiency 10.5 GH1 PRL
4 combined t cell and b cell immunodeficiency 10.5 GH1 PRL
5 aortic valve atresia 10.4 GH1 PRL
6 intermittent squint 10.4 GH1 PRL
7 lactic acidosis 10.4 GH1 PRL
8 glassy cell carcinoma of the cervix 10.4 GH1 PRL
9 protein s deficiency 10.4 GH1 PRL
10 pituitary adenoma, prolactin-secreting 10.3 GH1 PRL
11 ring dermoid of cornea 10.3 HESX1 SHH
12 strabismus 10.3 GH1 PRL
13 microphthalmia with coloboma 5 10.3 SHH TGIF1
14 osseous heteroplasia, progressive 10.3 GH1 PRL
15 schizencephaly 10.3 HESX1 SHH
16 47,xyy syndrome 10.3 GH1 PRL
17 alopecia areata 1 10.3 SHH TGIF1
18 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 10.3 GH1 GHRHR
19 diencephalic neoplasm 10.3 GH1 PRL
20 isolated klippel-feil syndrome 10.1 HESX1 LHX4 POU1F1
21 complement receptor deficiency 10.1 HESX1 LHX4 POU1F1
22 cold-induced sweating syndrome 2 10.1 GH1 PRL
23 adrenal cortex disease 10.1 GH1 PRL
24 sporadic pheochromocytoma 10.1 CDON SHH TGIF1
25 celosomia 10.1 CDON SHH TGIF1
26 corticosterone methyloxidase deficiency 10.1 HESX1 LHX4 POU1F1
27 pelizaeus-merzbacher disease in female carriers 10.1 CDON SHH TGIF1
28 laryngotracheoesophageal cleft type 2 10.1 CDON SHH TGIF1
29 laryngotracheoesophageal cleft type 4 10.1 CDON SHH TGIF1
30 isolated facial myokymia 10.0 CDON SHH TGIF1
31 hydrocephalus 10.0 CDON SHH TGIF1
32 thrombophilia 10.0 GH1 GHRHR PRL
33 insulin-like growth factor i 9.9
34 holoprosencephaly 9.9
35 cholestasis 9.9
36 pituitary hypoplasia 9.9
37 hypopituitarism 9.9
38 growth hormone deficiency 9.9
39 combined pituitary hormone deficiency 9.9
40 dwarfism familial with muscle spasms 9.9 GH1 GHRHR
41 hypothyroidism, congenital, nongoitrous 4 9.9 GH1 POU1F1 PRL
42 hiv-1 9.9
43 pneumonia 9.9
44 psychogenic movement 9.9 GH1 POU1F1 PRL
45 usher syndrome, type 1f 9.8 GH1 POU1F1 PRL
46 grubben de cock borghgraef syndrome 9.8 GH1 GHRHR HESX1 SOX3
47 worth's syndrome 9.8 GH1 PRL
48 aminoacylase 1 deficiency 9.8 HESX1 LHX4 POU1F1 SOX3
49 mental retardation, x-linked syndromic, christianson type 9.8 HESX1 LHX4 POU1F1 SOX3
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 ectopic posterior pituitary 56 32 obligate (100%) Obligate (100%) HP:0011755
2 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 hypothyroidism 56 32 frequent (33%) Frequent (79-30%) HP:0000821
5 delayed puberty 56 32 frequent (33%) Frequent (79-30%) HP:0000823
6 hypoglycemia 56 32 frequent (33%) Frequent (79-30%) HP:0001943
7 hypoplasia of penis 56 32 frequent (33%) Frequent (79-30%) HP:0008736
8 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
9 primary amenorrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000786
10 adrenal hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000835
11 diabetes insipidus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000873
12 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
13 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
14 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
15 septo-optic dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0100842
16 abnormality of the hypothalamus-pituitary axis 56 Very frequent (99-80%)
17 death in infancy 56 Occasional (29-5%)

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 TGIF1 SOX3 CDON PRL GHRHR PROKR2
2 growth/size/body region MP:0005378 10.02 TGIF1 SOX3 CDON POU1F1 GHRHR PROKR2
3 endocrine/exocrine gland MP:0005379 10.01 SOX3 LHX4 POU1F1 GHRHR PRL PROKR2
4 craniofacial MP:0005382 10 TGIF1 SOX3 CDON POU1F1 GPR161 SHH
5 embryo MP:0005380 9.91 TGIF1 SOX3 HESX1 SHH CDON GPR161
6 mortality/aging MP:0010768 9.91 TGIF1 SOX3 SHH HESX1 LHX4 CDON
7 nervous system MP:0003631 9.9 SOX3 TGIF1 LHX4 CDON POU1F1 GHRHR
8 limbs/digits/tail MP:0005371 9.72 TGIF1 SHH CDON GHRHR GPR161
9 reproductive system MP:0005389 9.5 TGIF1 SOX3 POU1F1 PRL GHRHR PROKR2
10 taste/olfaction MP:0005394 8.8 TGIF1 SHH HESX1

Drugs & Therapeutics for Pituitary Stalk Interruption Syndrome

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

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational 58-22-0 6013
2
Benzocaine Approved 1994-09-7, 94-09-7 2337
3 tannic acid Approved, Nutraceutical
4 Hormone Antagonists
5 Hormones
6 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


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

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 38)
id Title Authors Year
1
Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome. ( 28443260 )
2017
2
Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome. ( 28402530 )
2017
3
Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome. ( 28707430 )
2017
4
Pituitary stalk interruption syndrome: a rare and severe cause of pituitary deficiency Laboratory diagnosis of a newborn case. ( 28251898 )
2017
5
Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome. ( 28453858 )
2017
6
Growth Hormone Therapy Benefits Pituitary Stalk Interruption Syndrome Patients with Short Stature: A Retrospective Study of 75 Han Chinese. ( 27190512 )
2016
7
Correlation between Pituitary Stalk Interruption Syndrome and Prokineticin Receptor 2 and Prokineticin 2 Mutations. ( 26956854 )
2016
8
A case of pituitary stalk interruption syndrome with intermittent seizures as the first presentation. ( 28326739 )
2016
9
Pituitary Stalk Interruption Syndrome Presenting With Growth Retardation. ( 27238408 )
2016
10
Pituitary stalk interruption syndrome: From clinical findings to pathogenesis. ( 27917547 )
2016
11
Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management. ( 27386973 )
2016
12
Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome. ( 26829045 )
2016
13
Clinical Features of Pituitary Stalk Interruption Syndrome in 114 Cases. ( 27825409 )
2016
14
Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation. ( 26562670 )
2015
15
Relationship between pituitary stalk visibility and the severity of hormone deficiencies: Pituitary stalk interruption syndrome revisited. ( 25845766 )
2015
16
A nonsense mutation in the hedgehog receptor CDON associated with pituitary stalk interruption syndrome. ( 26529631 )
2015
17
Pituitary stalk interruption syndrome: Case report of three cases with review of literature. ( 25250085 )
2014
18
Whole exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. ( 25322266 )
2014
19
Pituitary stalk interruption syndrome presenting as short stature: a case report. ( 25524465 )
2014
20
Pituitary stalk interruption syndrome in 59 children: the value of MRI in assessment of pituitary functions. ( 24257915 )
2013
21
Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis. ( 23199197 )
2013
22
Pituitary stalk interruption syndrome in 53 postpubertal patients: factors influencing the heterogeneity of its presentation. ( 23308160 )
2013
23
Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes. ( 23476075 )
2013
24
Pituitary stalk interruption syndrome. ( 24617191 )
2013
25
Pituitary stalk interruption syndrome in Chinese people: clinical characteristic analysis of 55 cases. ( 23341953 )
2013
26
Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms. ( 21270112 )
2011
27
Pituitary stalk interruption syndrome: diagnostic delay and sensitivity of the auxological criteria of the growth hormone research society. ( 21298012 )
2011
28
Magnetic resonance image of sellar region in pituitary stalk interruption syndrome in children and adolescents. ( 21375930 )
2011
29
17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome. ( 21397059 )
2011
30
Pituitary stalk interruption syndrome: the role of MRI and review of the literature. ( 24148682 )
2010
31
The pituitary stalk interruption syndrome: endocrine features and benefits of growth hormone therapy. ( 20044069 )
2010
32
Diagnosis of growth hormone (GH) deficiency: comparison of pituitary stalk interruption syndrome and transient GH deficiency. ( 19419564 )
2009
33
Gonadotrophic status in adolescents with pituitary stalk interruption syndrome. ( 18088398 )
2008
34
Factors influencing the growth hormone peak and plasma insulin-like growth factor I in young adults with pituitary stalk interruption syndrome. ( 18620575 )
2008
35
Pituitary stalk interruption syndrome (PSIS). ( 17901685 )
2007
36
Long-term evolution of endocrine disorders and effect of GH therapy in 35 patients with pituitary stalk interruption syndrome. ( 16260897 )
2005
37
Growth hormone deficiency associated with pituitary stalk interruption syndrome. ( 9554478 )
1998
38
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 17)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 GPR161 HESX1 SHH SOX3 TGIF1
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.89 HESX1 POU1F1 SHH SOX3 TGIF1
3 positive regulation of cAMP biosynthetic process GO:0030819 9.57 GHRHR GPR161
4 lactation GO:0007595 9.56 GHRHR PRL
5 positive regulation of JAK-STAT cascade GO:0046427 9.54 GH1 PRL
6 embryonic morphogenesis GO:0048598 9.52 CDON SHH
7 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.51 GH1 PRL
8 determination of adult lifespan GO:0008340 9.48 GHRHR POU1F1
9 striated muscle cell differentiation GO:0051146 9.46 CDON SHH
10 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.43 GH1 GHRHR
11 positive regulation of multicellular organism growth GO:0040018 9.43 GH1 GHRHR POU1F1
12 adenohypophysis development GO:0021984 9.4 GHRHR POU1F1
13 positive regulation of skeletal muscle tissue development GO:0048643 9.37 CDON SHH
14 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.32 GHRHR POU1F1
15 somatotropin secreting cell development GO:0060133 9.16 GHRHR POU1F1
16 pituitary gland development GO:0021983 9.13 HESX1 POU1F1 SOX3
17 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

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70 UMLS via Orphanet
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