MCID: NNC019
MIFTS: 20

Non-Acquired Panhypopituitarism

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Non-Acquired Panhypopituitarism

MalaCards integrated aliases for Non-Acquired Panhypopituitarism:

Name: Non-Acquired Panhypopituitarism 58
Genetic Panhypopituitarism 58

Characteristics:

Orphanet epidemiological data:

58
non-acquired panhypopituitarism
Inheritance: Autosomal recessive,X-linked recessive;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E23.0
UMLS via Orphanet 72 C0242343
Orphanet 58 ORPHA90695

Summaries for Non-Acquired Panhypopituitarism

MalaCards based summary : Non-Acquired Panhypopituitarism, also known as genetic panhypopituitarism, is related to hypopituitarism and borjeson-forssman-lehmann syndrome. An important gene associated with Non-Acquired Panhypopituitarism is PROP1 (PROP Paired-Like Homeobox 1). Affiliated tissues include pituitary and breast, and related phenotypes are delayed skeletal maturation and short stature

Related Diseases for Non-Acquired Panhypopituitarism

Diseases related to Non-Acquired Panhypopituitarism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypopituitarism 9.6 SOX3 PROP1
2 borjeson-forssman-lehmann syndrome 9.6 SOX3 PROP1
3 pituitary hormone deficiency, combined, 2 9.6 SOX3 PROP1
4 pituitary gland disease 9.6 SOX3 PROP1
5 isolated growth hormone deficiency 9.6 SOX3 PROP1
6 septooptic dysplasia 9.5 SOX3 PROP1
7 cryptorchidism, unilateral or bilateral 9.5 SOX3 PROP1
8 holoprosencephaly 9.5 SOX3 PROP1
9 kallmann syndrome 9.4 SOX3 PROP1
10 hypothyroidism 9.2 SOX3 PROP1

Graphical network of the top 20 diseases related to Non-Acquired Panhypopituitarism:



Diseases related to Non-Acquired Panhypopituitarism

Symptoms & Phenotypes for Non-Acquired Panhypopituitarism

Human phenotypes related to Non-Acquired Panhypopituitarism:

58 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 Occasional (29-5%)
2 short stature 58 Frequent (79-30%)
3 delayed puberty 58 Occasional (29-5%)
4 fatigue 58 Frequent (79-30%)
5 hypoglycemia 58 Frequent (79-30%)
6 osteopenia 58 Occasional (29-5%)
7 growth delay 58 Frequent (79-30%)
8 hypogonadotrophic hypogonadism 58 Frequent (79-30%)
9 depressed nasal ridge 58 Frequent (79-30%)
10 constipation 58 Occasional (29-5%)
11 decreased testicular size 58 Frequent (79-30%)
12 infertility 58 Frequent (79-30%)
13 hypotension 58 Frequent (79-30%)
14 abnormality of secondary sexual hair 58 Frequent (79-30%)
15 osteoporosis of vertebrae 58 Occasional (29-5%)
16 aplasia/hypoplasia of the breasts 58 Frequent (79-30%)
17 growth hormone deficiency 58 Frequent (79-30%)
18 pituitary hypothyroidism 58 Frequent (79-30%)
19 amenorrhea 58 Frequent (79-30%)
20 anterior pituitary hypoplasia 58 Frequent (79-30%)
21 hypopituitarism 58 Obligate (100%)
22 ectopic posterior pituitary 58 Very rare (<4-1%)
23 absence of secondary sex characteristics 58 Occasional (29-5%)
24 decreased circulating acth level 58 Frequent (79-30%)
25 abnormal prolactin level 58 Frequent (79-30%)
26 pituitary dwarfism 58 Occasional (29-5%)
27 ectopic anterior pituitary gland 58 Very rare (<4-1%)

Drugs & Therapeutics for Non-Acquired Panhypopituitarism

Search Clinical Trials , NIH Clinical Center for Non-Acquired Panhypopituitarism

Genetic Tests for Non-Acquired Panhypopituitarism

Anatomical Context for Non-Acquired Panhypopituitarism

MalaCards organs/tissues related to Non-Acquired Panhypopituitarism:

40
Pituitary, Breast

Publications for Non-Acquired Panhypopituitarism

Variations for Non-Acquired Panhypopituitarism

ClinVar genetic disease variations for Non-Acquired Panhypopituitarism:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;X;t(X;5)(q24;q13)dnTranslocation Pathogenic 267830
2 SYNE2 NM_182914.2(SYNE2):c.19624G>T (p.Gly6542Trp)SNV Uncertain significance 598975 rs746433383 14:64685197-64685197 14:64218479-64218479
3 RYR1 NM_000540.2(RYR1):c.10097G>T (p.Arg3366Leu)SNV Uncertain significance 598974 rs137932199 19:39009932-39009932 19:38519292-38519292

Expression for Non-Acquired Panhypopituitarism

Search GEO for disease gene expression data for Non-Acquired Panhypopituitarism.

Pathways for Non-Acquired Panhypopituitarism

GO Terms for Non-Acquired Panhypopituitarism

Cellular components related to Non-Acquired Panhypopituitarism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.96 SOX3 PROP1
2 transcription factor complex GO:0005667 8.62 SOX3 PROP1

Biological processes related to Non-Acquired Panhypopituitarism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.16 SOX3 PROP1
2 central nervous system development GO:0007417 8.96 SOX3 PROP1
3 pituitary gland development GO:0021983 8.62 SOX3 PROP1

Molecular functions related to Non-Acquired Panhypopituitarism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 8.62 SOX3 PROP1

Sources for Non-Acquired Panhypopituitarism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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