MCID: PTT046
MIFTS: 35

Pituitary Hormone Deficiency, Combined, 2 malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases categories

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 2

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Sources:
45OMIM, 10diseasecard, 60UMLS, 9Disease Ontology, 43Novoseek, 47Orphanet, 41NIH Rare Diseases, 22GTR, 55SNOMED-CT, 27ICD9CM, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Pituitary Hormone Deficiency, Combined, 2, Aliases & Descriptions:

Name: Pituitary Hormone Deficiency, Combined, 2 45 10
Panhypopituitarism 9 43 47 60
Pituitary Hormone Deficiency, Combined 2 41 22
Ateliotic Dwarfism with Hypogonadism 41
Pituitary Dwarfism Type 3 60
Panhypopituitarism Nos 9
Pituitary Dwarfism Iii 41
 
Simmonds' Disease 9
Simmond's Disease 9
Sheehan Syndrome 60
Hanhart Dwarfism 41
Hypopituitarism 60
Cphd2 41


Classifications:



External Ids:

OMIM45 262600
Disease Ontology9 DOID:9410
ICD9CM27 253.2
MeSH33 D007018
Orphanet47 90695
ICD10 via Orphanet26 E23.0
UMLS via Orphanet61 C0242343

Summaries for Pituitary Hormone Deficiency, Combined, 2

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MalaCards based summary: Pituitary Hormone Deficiency, Combined, 2, also known as panhypopituitarism, is related to pituitary hypoplasia and growth hormone deficiency, and has symptoms including autosomal recessive inheritance, hypogonadism and hypothyroidism. An important gene associated with Pituitary Hormone Deficiency, Combined, 2 is PROP1 (PROP paired-like homeobox 1). Affiliated tissues include pituitary, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Description from OMIM:45 262600

Related Diseases for Pituitary Hormone Deficiency, Combined, 2

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Graphical network of the top 20 diseases related to Pituitary Hormone Deficiency, Combined, 2:



Diseases related to pituitary hormone deficiency, combined, 2

Symptoms for Pituitary Hormone Deficiency, Combined, 2

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Symptoms by clinical synopsis from OMIM:

262600

Clinical features from OMIM:

262600

HPO human phenotypes related to Pituitary Hormone Deficiency, Combined, 2:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypogonadism HP:0000135
3 hypothyroidism HP:0000821
4 adrenal insufficiency HP:0000846
5 panhypopituitarism HP:0000871
6 neonatal hypoglycemia HP:0001998
7 hypoglycemic seizures HP:0002173
8 short stature HP:0004322
9 prolactin deficiency HP:0008202

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 2

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Drug clinical trials:

Search ClinicalTrials for Pituitary Hormone Deficiency, Combined, 2

Search NIH Clinical Center for Pituitary Hormone Deficiency, Combined, 2

Genetic Tests for Pituitary Hormone Deficiency, Combined, 2

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Genetic tests related to Pituitary Hormone Deficiency, Combined, 2:

id Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 222

Anatomical Context for Pituitary Hormone Deficiency, Combined, 2

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MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 2:

31
Pituitary

Animal Models for Pituitary Hormone Deficiency, Combined, 2 or affiliated genes

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MGI Mouse Phenotypes related to Pituitary Hormone Deficiency, Combined, 2:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.1PROP1, SOX3
2MP:00053798.8PROP1, SOX3

Publications for Pituitary Hormone Deficiency, Combined, 2

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Variations for Pituitary Hormone Deficiency, Combined, 2

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UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 2:

62
id Symbol AA change Variation ID SNP ID
1PROP1p.Arg73CysVAR_003768
2PROP1p.Phe117IleVAR_003769
3PROP1p.Arg120CysVAR_003770
4PROP1p.Arg73HisVAR_012746
5PROP1p.Arg125TrpVAR_054973
6PROP1p.Phe88SerVAR_063235
7PROP1p.Arg99GlnVAR_063236

Clinvar genetic disease variations for Pituitary Hormone Deficiency, Combined, 2:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1PROP1NM_006261.4(PROP1): c.358C> T (p.Arg120Cys)single nucleotide variantPathogenicrs121917839GRCh37Chr 5, 177420033: 177420033
2PROP1NM_006261.4(PROP1): c.349T> A (p.Phe117Ile)single nucleotide variantPathogenicrs121917840GRCh37Chr 5, 177420042: 177420042
3PROP1NM_006261.4(PROP1): c.150_151delAG (p.Gly52Glufs)deletionPathogenicGRCh38Chr 5, 177994297: 177994298
4PROP1NM_006261.4(PROP1): c.301_302delAG (p.Leu102Cysfs)deletionPathogenicrs193922688GRCh37Chr 5, 177421147: 177421148
5PROP1NM_006261.4(PROP1): c.263T> C (p.Phe88Ser)single nucleotide variantPathogenicrs121917841GRCh37Chr 5, 177421186: 177421186
6PROP1NM_006261.4(PROP1): c.112_124delTCGAGTGCTCCAC (p.Ser38Profs)deletionPathogenicGRCh38Chr 5, 177994324: 177994336
7PROP1NM_006261.4(PROP1): c.150delA (p.Arg53Aspfs)deletionPathogenicGRCh38Chr 5, 177994298: 177994298
8PROP1NM_006261.4(PROP1): c.218G> A (p.Arg73His)single nucleotide variantPathogenicrs121917842GRCh37Chr 5, 177421231: 177421231
9PROP1NM_006261.4(PROP1): c.217C> T (p.Arg73Cys)single nucleotide variantPathogenicrs121917843GRCh37Chr 5, 177421232: 177421232
10PROP1NM_006261.4(PROP1): c.295C> T (p.Arg99Ter)single nucleotide variantPathogenicrs121917844GRCh37Chr 5, 177421154: 177421154
11PROP1NM_006261.4(PROP1): c.296G> A (p.Arg99Gln)single nucleotide variantPathogenicrs137853100GRCh37Chr 5, 177421153: 177421153
12PROP1NM_006261.4(PROP1): c.582G> A (p.Trp194Ter)single nucleotide variantPathogenicrs121917845GRCh37Chr 5, 177419809: 177419809

Expression for genes affiliated with Pituitary Hormone Deficiency, Combined, 2

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Search GEO for disease gene expression data for Pituitary Hormone Deficiency, Combined, 2.

Pathways for genes affiliated with Pituitary Hormone Deficiency, Combined, 2

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Compounds for genes affiliated with Pituitary Hormone Deficiency, Combined, 2

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GO Terms for genes affiliated with Pituitary Hormone Deficiency, Combined, 2

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Biological processes related to Pituitary Hormone Deficiency, Combined, 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1central nervous system developmentGO:00074179.1PROP1, SOX3

Products for genes affiliated with Pituitary Hormone Deficiency, Combined, 2

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  • Antibodies
  • Proteins
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pituitary Hormone Deficiency, Combined, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet