MCID: PTT043
MIFTS: 19

Pituitary Hormone Deficiency, Combined, 6

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 6

MalaCards integrated aliases for Pituitary Hormone Deficiency, Combined, 6:

Name: Pituitary Hormone Deficiency, Combined, 6 54 71 13 69
Cphd6 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
pituitary hormone deficiency, combined, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613986
MedGen 40 C3151440
MeSH 42 D007018

Summaries for Pituitary Hormone Deficiency, Combined, 6

UniProtKB/Swiss-Prot : 71 Pituitary hormone deficiency, combined, 6: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone.

MalaCards based summary : Pituitary Hormone Deficiency, Combined, 6, also known as cphd6, is related to otx2-related combined pituitary hormone deficiency, and has symptoms including short stature and ectopic posterior pituitary. An important gene associated with Pituitary Hormone Deficiency, Combined, 6 is OTX2 (Orthodenticle Homeobox 2). The drugs Cladribine and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include pituitary and thyroid.

Description from OMIM: 613986

Related Diseases for Pituitary Hormone Deficiency, Combined, 6

Diseases related to Pituitary Hormone Deficiency, Combined, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 otx2-related combined pituitary hormone deficiency 11.2

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 6

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Endocrine Features:
pituitary hormone deficiencies

Neurologic- Central Nervous System:
ectopic posterior pituitary
pituitary hypoplasia


Clinical features from OMIM:

613986

Human phenotypes related to Pituitary Hormone Deficiency, Combined, 6:

32
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 ectopic posterior pituitary 32 HP:0011755

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 6

Drugs for Pituitary Hormone Deficiency, Combined, 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
2
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
3
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
4
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
8
Vinblastine Approved Phase 2, Phase 3 865-21-4 13342 241903
9
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
11
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
12 Hormone Antagonists Phase 2, Phase 3
13 Hormones Phase 2, Phase 3
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
15 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
16 6-Mercaptopurine Phase 2, Phase 3
17 Analgesics Phase 2, Phase 3
18 Analgesics, Non-Narcotic Phase 2, Phase 3
19 Antibodies Phase 2, Phase 3
20 Anti-Infective Agents Phase 2, Phase 3
21 Anti-Inflammatory Agents Phase 2, Phase 3
22 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
23 Antimetabolites Phase 2, Phase 3
24 Antimetabolites, Antineoplastic Phase 2, Phase 3
25 Antimitotic Agents Phase 2, Phase 3
26 Antineoplastic Agents, Hormonal Phase 2, Phase 3
27 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
28 Antirheumatic Agents Phase 2, Phase 3
29 Antiviral Agents Phase 2, Phase 3
30 Cyclooxygenase Inhibitors Phase 2, Phase 3
31 Dermatologic Agents Phase 2, Phase 3
32 Folic Acid Antagonists Phase 2, Phase 3
33 gamma-Globulins Phase 2, Phase 3
34 glucocorticoids Phase 2, Phase 3
35 Immunoglobulins Phase 2, Phase 3
36 Immunoglobulins, Intravenous Phase 2, Phase 3
37 Immunosuppressive Agents Phase 2, Phase 3
38 Methylprednisolone acetate Phase 2, Phase 3
39 Methylprednisolone Hemisuccinate Phase 2, Phase 3
40 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
41 Peripheral Nervous System Agents Phase 2, Phase 3
42 Prednisolone acetate Phase 2, Phase 3
43 Prednisolone hemisuccinate Phase 2, Phase 3
44 Prednisolone phosphate Phase 2, Phase 3
45 Rho(D) Immune Globulin Phase 2, Phase 3
46 Tocolytic Agents Phase 2, Phase 3
47 Vitamin B Complex Phase 2, Phase 3
48 Folate Nutraceutical Phase 2, Phase 3
49 Vitamin B9 Nutraceutical Phase 2, Phase 3
50 Vitamins

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell Histiocytosis Recruiting NCT02205762 Phase 2, Phase 3 Prednisone;Vinblastine;mercaptopurine;INDOMETHACIN;Methotrexate;Cytosine Arabinoside;2-chlorodeoxyadenosine
2 Effects of Growth Hormone Supplementation to Adults With Growth Hormone Deficient on Metabolism and Adipose Tissue Molecular Phenotype Unknown status NCT01616095
3 Effect of Nutritional Formula Supplementation on Growth Rate of Growth Hormone (GH) Treated Children With Growth Hormone Deficiency (GHD) After the Second Year of Therapy Not yet recruiting NCT03053687

Search NIH Clinical Center for Pituitary Hormone Deficiency, Combined, 6

Genetic Tests for Pituitary Hormone Deficiency, Combined, 6

Anatomical Context for Pituitary Hormone Deficiency, Combined, 6

MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 6:

39
Pituitary, Thyroid

Publications for Pituitary Hormone Deficiency, Combined, 6

Variations for Pituitary Hormone Deficiency, Combined, 6

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 6:

71
id Symbol AA change Variation ID SNP ID
1 OTX2 p.Asn225Ser VAR_065953 rs370761964

ClinVar genetic disease variations for Pituitary Hormone Deficiency, Combined, 6:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 OTX2 NM_172337.2(OTX2): c.674A> G (p.Asn225Ser) single nucleotide variant Pathogenic rs370761964 GRCh37 Chromosome 14, 57268649: 57268649

Expression for Pituitary Hormone Deficiency, Combined, 6

Search GEO for disease gene expression data for Pituitary Hormone Deficiency, Combined, 6.

Pathways for Pituitary Hormone Deficiency, Combined, 6

GO Terms for Pituitary Hormone Deficiency, Combined, 6

Sources for Pituitary Hormone Deficiency, Combined, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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