MCID: PTT046
MIFTS: 47

Pituitary Hormone Deficiency, Combined, 2 malady

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 2

About this section
Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 45NIH Rare Diseases, 24GTR, 27ICD10, 29ICD9CM, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

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

Name: Pituitary Hormone Deficiency, Combined, 2 49 11 67
Panhypopituitarism 10 47 12 51 67 65
Pituitary Hormone Deficiency, Combined 2 45 24
Ateliotic Dwarfism with Hypogonadism 45 67
Pituitary Dwarfism Iii 45 67
Hanhart Dwarfism 45 67
 
Cphd2 45 67
Pituitary Dwarfism Type 3 65
Panhypopituitarism Nos 10
Simmond's Disease 10
Simmonds' Disease 10
Sheehan Syndrome 65

Characteristics:

HPO:

61
pituitary hormone deficiency, combined, 2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 262600
Disease Ontology10 DOID:9410
ICD1027 E23.0
ICD9CM29 253.2
NCIt42 C110940
Orphanet51 90695
ICD10 via Orphanet28 E23.0
UMLS via Orphanet66 C0242343
MedGen34 C0878683
UMLS65 C0242343, C0878683

Summaries for Pituitary Hormone Deficiency, Combined, 2

About this section
UniProtKB/Swiss-Prot:67 Pituitary hormone deficiency, combined, 2: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle- stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone.

MalaCards based summary: Pituitary Hormone Deficiency, Combined, 2, also known as panhypopituitarism, is related to posterior uveitis and hypogonadism, and has symptoms including prolactin deficiency, short stature and hypoglycemic seizures. An important gene associated with Pituitary Hormone Deficiency, Combined, 2 is PROP1 (PROP Paired-Like Homeobox 1), and among its related pathways are Glucocorticoid receptor regulatory network and Growth hormone receptor signaling. Affiliated tissues include pituitary, thyroid and testes, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Description from OMIM:49 262600

Related Diseases for Pituitary Hormone Deficiency, Combined, 2

About this section

Diseases related to Pituitary Hormone Deficiency, Combined, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 310)
idRelated DiseaseScoreTop Affiliating Genes
1posterior uveitis30.4LHX3, PROP1
2hypogonadism29.9POMC, PRL
3leptospirosis29.8IGF1, POMC, PRL
4pituitary adenoma29.3AVP, GH1, POMC, PRL
5panhypopituitarism, x-linked12.6
6mental retardation, x-linked, with isolated growth hormone deficiency11.8
7lhx3-related combined pituitary hormone deficiency11.5
8combined pituitary hormone deficiency11.5
9sheehan syndrome11.3
10pituitary hormone deficiency, combined, 110.3
11holoprosencephaly-910.3
12hypopituitarism10.3
13mesocardia10.3HESX1, LHX4, SOX3
14patent foramen ovale10.3
15lymphoma10.3
16leukemia10.3
17lipoadenoma10.2IGF1, PRL
18cercarial dermatitis10.2POMC, PRL
19cranial nerve disease10.2POMC, PRL
20hypothalamic neoplasm10.2POMC, PRL
21thyroiditis10.2
22mixed ductal-endocrine carcinoma10.2POMC, PRL
23arteriovenous malformation10.2POMC, PRL
24brain angioma10.2IGF1, POMC
25acyl-coa dehydrogenase, short-chain, deficiency of10.2GHR, IGF1
26pseudohypoparathyroidism ic10.2GH1, PRL
27gerstmann syndrome10.2POMC, PRL
28prolactin producing pituitary tumor10.2POMC, PRL
29lung cancer10.2
30breast cancer10.2
31pancreatitis10.2
32herpes simplex10.2
33hypoaldosteronism10.2GH1, POMC
34infiltrating angiolipoma10.1HESX1, LHX3, PROP1
35skull base neoplasm10.1IGF1, PRL, PROP1
36cold-induced sweating syndrome 210.1POMC, PRL
37ulcer of lower limbs10.1GH1, IGF1
38aortic valve atresia10.1HESX1, LHX4, POU1F1, PROP1
39bone diseases10.1GH1, PRL
40secondary glomerular disease10.1AVP, IGF1
41colorectal cancer10.1
42arthritis10.1
43dystonia10.1
44neuronitis10.1
45amyloidosis10.1
46aneurysm10.1
47fatal infantile encephalomyopathy10.1IGF1, POMC
48retinal perforation10.1AVP, POMC
49central nervous system germ cell tumor10.1AVP, POMC
50histiocytosis10.1AVP, POMC

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

About this section

Symptoms by clinical synopsis from OMIM:

262600

Clinical features from OMIM:

262600

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

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

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 2

About this section

Drugs for Pituitary Hormone Deficiency, Combined, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 86)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PrednisoneapprovedPhase 2, Phase 3126753-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
Juvason
 
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Perrigo Prednisone
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rayos
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
2
Vincristineapproved, investigationalPhase 2, Phase 38632068-78-2, 57-22-75978
Synonyms:
22-Oxovincaleukoblastin
22-Oxovincaleukoblastine
28379-27-3
57-22-7
AC1L1LJC
C07204
C46H56N4O10
CCRIS 5763
CHEBI:28445
CID5978
D08679
DB00541
EINECS 200-318-1
HMS2090E19
HSDB 3199
Indole alkaloid
LCR
LS-228
Leurocristine
Lilly 37231 (1:1 sulfate salt)
Liposomal Vincristine
Marqibo
NCGC00163700-01
NCI-C04864
NCI60_026703
NSC-67574
Onco TCS
 
Oncovin
Oncovin (1:1 sulfate salt)
Oncovine
Tecnocris
Tecnocris (TN)
UNII-5J49Q6B70F
VCR
VIN
Vincaleukoblastine, 22-oxo- 22-Oxovincaleukoblastine
Vincasar
Vincasar (1:1 sulfate salt)
Vincasar PFS
Vincrex
Vincrex (1:1 sulfate salt)
Vincristin
Vincristina
Vincristina [DCIT]
Vincristine (INN)
Vincristine Sulfate
Vincristine Sulfate PFS
Vincristine [INN:BAN]
Vincristinum
Vincristinum [INN-Latin]
Vincrstine
Vincrystine
Vinkristin
Z-D-Val-Lys(Z)-OH
vincristine
3
MethotrexateapprovedPhase 2, Phase 314441959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
Methopterin
Methotextrate
 
Methotrate
Methotrexat
Methotrexate
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metoject
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Otrexup
Rasuvo
Rheumatrex
Rheumatrex Dose Pack
Trexall
4
Indomethacinapproved, investigationalPhase 2, Phase 310653-86-13715
Synonyms:
1-(p-chlorobenzoyl)-5-methoxy-2-methylindole-3-acetic acid
1z9h
37242-43-6
503560-73-4
53-86-1
74252-25-8 (hydrochloride salt, tri-hydrate)
7681-54-1 (hydrochloride salt)
91853-74-6
AB00052022
AC-532
AC1L1GJQ
AKOS000592893
Aconip
Aconip (TN)
Amuno
Apo-Indomethacin
Arthrexin
Artracin
Artrinovo
Artrivia
BIDD:GT0132
BIM-0050670.0001
BPBio1_000160
BRD-K57222227-001-06-1
BRN 0497341
BSPBio_000144
BSPBio_001149
BSPBio_002176
Bio-0704
Bio2_000405
Bio2_000885
Bonidin
Bonidon
Bonidon Gel
C01926
CAS-53-86-1
CCRIS 3502
CHEBI:49662
CHEMBL6
CID3715
CPD-10545
Catlep
Chibro-amuno
Chrono-indicid
Chrono-indocid
Confortid
D00141
DB00328
DESMETHYL INDOMETHACIN
DivK1c_000271
Dolcidium
Dolcidium PL
Dolovin
Durametacin
EINECS 200-186-5
EU-0100692
Elmetacin
Flexin continus
HMS1362I11
HMS1568H06
HMS1792I11
HMS1920F21
HMS1990I11
HMS2089N19
HMS2091N09
HMS500N13
HSDB 3101
Hicin
I 7378
I0655
I7378_SIGMA
I8280_SIGMA
IDI1_000271
IDI1_002160
IMN
IN1454
Idomethine
Imbrilon
Inacid
Indacin
Indameth
Indmethacine
Indo-Lemmon
Indo-Spray
Indo-phlogont
Indo-rectolmin
Indo-tablinen
Indocid
Indocid (pharmaceutical)
Indocid Pda
Indocid Sr
Indocin
Indocin (TN)
Indocin I.V
Indocin I.V.
Indocin Sr
Indolar SR
Indomecol
Indomed
Indomee
Indomet 140
Indometacin
Indometacin (JP15/INN)
Indometacina
Indometacina [INN-Spanish]
Indometacine
Indometacine [INN-French]
Indometacinum
Indometacinum [INN-Latin]
 
Indometacyna
Indometacyna [Polish]
Indomethacin
Indomethacin & MAP-30
Indomethacin (USP)
Indomethacin Er
Indomethacin [USAN:BAN]
Indomethacin, Indochron E-R, Indocin-SR, Indocid, Indocin, Indomethacin
Indomethacine
Indomethacinum
Indomethancin
Indomethazine
Indomethegan
Indomethine
Indometicina
Indometicina [Spanish]
Indomo
Indomod
Indoptic
Indoptol
Indorektal
Indoxen
Inflazon
Infrocin
Inteban sp
KBio1_000271
KBio2_000489
KBio2_001399
KBio2_003057
KBio2_003967
KBio2_005625
KBio2_006535
KBio3_000897
KBio3_000898
KBio3_001396
KBioGR_000395
KBioGR_000489
KBioSS_000489
KBioSS_001399
L000959
LS-187
LS-82147
Lausit
Liometacen
Lopac-I-7378
Lopac0_000692
MLS000069402
MLS000758212
MLS001074194
Metacen
Metartril
Methazine
Metindol
Mezolin
Miametan
Mikametan
Mobilan
MolMap_000032
MolPort-000-917-894
NCGC00015562-01
NCGC00015562-02
NCGC00015562-03
NCGC00015562-08
NCGC00015562-19
NCGC00024135-02
NCGC00024135-04
NCGC00024135-05
NCGC00024135-06
NCGC00024135-07
NCGC00024135-08
NCGC00024135-09
NCGC00024135-11
NCI-C56144
NCI60_041708
NINDS_000271
Novo-Methacin
Novomethacin
Oprea1_686105
Prestwick0_000272
Prestwick1_000272
Prestwick2_000272
Prestwick3_000272
Prestwick_597
Reumacide
Rhemacin LA
Rheumacin LA
S00108
S1723_Selleck
SMR000058195
SMR000449290
SPBio_000979
SPBio_002363
SPECTRUM1500350
Sadoreum
Spectrum2_000970
Spectrum3_000468
Spectrum4_000018
Spectrum5_000868
Spectrum_000919
Tannex
Tivorbex
Tocris-1708
UNII-XXE1CET956
UPCMLD-DP023
UPCMLD-DP023:001
USAN
Vonum
indometacin
indomethacin
nchembio.147-comp11
{1-[(4-chlorophenyl)carbonyl]-5-methoxy-2-methyl-1H-indol-3-yl}acetic acid
5
VinblastineapprovedPhase 2, Phase 3230865-21-413342, 241903
Synonyms:
(2ALPHA,2'BETA,3BETA,4ALPHA,5BETA)-VINCALEUKOBLASTINE
(2alpha,2'BETA,3beta,4alpha,5beta)-vincaleukoblastine
(2xi,3beta,4'beta,19xi)-vincaleukoblastine
(3aR-(3aalpha,4beta,5beta,5abeta,9(3R*,5S*,7R*,9S*),10bR*,13aalpha))-methyl 4-(acetyloxy)-3a-ethyl-9-(5-ethyl-1,4,5,6,7,8,9,10-octahydro-5-hydroxy-9-(methoxycarbonyl)-2H-3,7-methanoazacycloundecino(5,4-b)indol-9-yl)-3a,4,5,5a,6,11,12,13a-octahydro-5-hydroxy-8-methoxy-6-methyl-1H-indolizino(8,1-cd)carbazole-5-carboxylate
143-67-9
1z2b
29060-LE
865-21-4
AC-20335
AC1L21JC
AC1L68D2
AC1MXZJ2
BIDD:PXR0201
BRD-K01188359-065-02-5
BSPBio_001228
BSPBio_003594
Bio-0111
C07201
C46H58N4O9
CCRIS 9002
CHEBI:171516
CHEBI:27375
CHEMBL159
CHEMBL607706
CID13342
CID241903
CID3823887
CID6710780
D08675
DB00570
EINECS 212-734-0
HMS2090K05
HSDB 3263
KBio3_003033
LS-1859
LS-187263
 
MolPort-002-518-262
MolPort-005-910-359
NCGC00022585-04
NCGC00181127-01
NCI-C04842
NCI60_004200
NChemBio.2007.10-comp22
NDC 0002-1452-01
NSC 47842
Neuro_000020
Nincaluicolflastine
Rozevin
SPBio_000680
STOCK1N-38480
Spectrum2_000890
Spectrum3_001994
UNII-5V9KLZ54CY
VLB
VR-8
Velban
Velbe
Vinblastin
Vinblastina
Vinblastina (TN)
Vinblastina [DCIT]
Vinblastina [Dcit]
Vinblastine
Vinblastine (INN)
Vinblastine Sulfate
Vinblastine [INN:BAN]
Vinblastinum
Vinblastinum [INN-Latin]
Vincaleucoblastin
Vincaleucoblastine
Vincaleukoblastine
Vincoblastine
nchembio873-comp22
vinblastine
6
MethylprednisoloneapprovedPhase 2, Phase 3108283-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
A-methapred
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Depo-medrol
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
7
PrednisoloneapprovedPhase 2, Phase 3108250-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
Flo-pred
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
MLS001304083
 
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
8
Cladribineapproved, investigationalPhase 2, Phase 3674291-63-820279
Synonyms:
(2R,3S,5R)-5-(6-amino-2-Chloropurin-9-yl)-2-(hydroxymethyl)oxolan-3-ol
(2R,3S,5R)-5-(6-amino-2-chloropurin-9-yl)-2-(hydroxymethyl)oxolan-3-ol
2 Chlorodeoxyadenosine
2'-Deoxy-2-chloroadenosine
2-CdA
2-Chloro-2'-deoxy-beta-adenosine
2-Chloro-2'-deoxyadenosine
2-Chloro-6-amino-9-(2-deoxy-beta-D-erythropentofuranosyl)purine
2-Chlorodeoxyadenosine
2-chloro-6-amino-9-(2-Deoxy-beta-D-erythro-pentofuranosyl)purine
2-chloro-6-amino-9-(2-deoxy-beta-D-erythro-pentofuranosyl)purine
2-chloro-Deoxyadenosine
2-chloro-deoxyadenosine
24757-90-2
2CdA
2ClAdo
4291-63-8
AC-7591
AC1L2FXP
Adenosine, 2-chloro-2'-deoxy
BRN 0624220
C10H12ClN5O3.C3H8
CHEBI:567361
CHEMBL1619
CID20279
CL9
CPD000058553
Chlorodeoxyadenosine
Cladarabine
Cladaribine
Cladribina
Cladribine
Cladribine (JAN/USAN/INN)
Cladribine [USAN:INN:BAN]
Cladribinum
 
CldAdo
D01370
D017338
DB00242
FT-0080707
HMS2052K13
HSDB 7564
LS-15109
Leustat
Leustatin
Leustatin (TN)
Leustatin, 2-chlorodeoxyadenosine, Cladribine
Litak
MLS000028377
MLS000028484
MLS000759397
MLS001077345
MolPort-002-054-532
MolPort-005-935-074
Movectro
Mylinax
NCGC00022567-05
NCGC00164384-01
NSC 105014
NSC 105014-F
NSC-105014
RWJ 26251
RWJ-26251
RWJ-26251-000
S1199_Selleck
SAM001246526
SMR000058553
UNII-47M74X9YT5
ZINC03798064
cladribina
cladribine
cladribinum
9
Cytarabineapproved, investigationalPhase 2, Phase 31035147-94-46253
Synonyms:
(beta-D-Arabinofuranosyl)cytosine
(beta-D-arabinofuranosyl)cytosine
1-.beta.-D-arabinofuranosyl-cytosine
1-Arabinofuranosylcytosine
1-beta -D-Arabinofaranosylcytosine
1-beta -D-Arabinofuranosyl-4-amino-2(1H)pyrimidinone
1-beta -D-Arabinofuranosylcytosine
1-beta-D-Arabinofaranosylcytosine
1-beta-D-Arabinofuranosyl-4-amino-2(1H)pyrimidinone
1-beta-D-Arabinofuranosyl-Cytosine
1-beta-D-Arabinofuranosylcytosine
1-beta-D-Arabinofuranosylcytosine, Cytosine Arabinoside
1-beta-D-Arabinosyl-Cytosine
1-beta-D-Arabinosylcytosine
147-94-4
1beta -Arabinofuranasylcytosine
1beta -D-Arabinofuranosylcytosine
1beta -D-Arabinosylcytosine
1beta-Arabinofuranasylcytosine
1beta-D-Arabinofuranosylcytosine
1beta-D-Arabinosylcytosine
2(1H)-Pyrimidinone, 4-amino-1- -D-arabinofuranosyl- [CAS]
2(1H)-Pyrimidinone, 4-amino-1- -D-arabinofuranosyl
30399_FLUKA
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidin
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidin [Czech]
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidine
4-Amino-1-b-D-arabinofuranosyl-2-(1H)-pyrimidinone
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinon
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinon [Czech]
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinone
4-amino-1-[(2R,3S,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one
4-amino-1-beta-D-arabinofuranosylpyrimidin-2(1H)-one
69-74-9 (hydrochloride)
AC-1075
AC1L1M4F
AC1Q52OJ
AI3-52329
AR3
Alexan
Ara-C
Ara-C, Cytosine Arabinoside, Cytosar-U, Cytarabine
Ara-Cytidine
AraC
Arabinocytidine
Arabinofuranosyl Cytidine
Arabinofuranosylcytosine
Arabinosyl Cytosine
Arabinosylcytosine
Arabitin
Aracytidine
Aracytin
Aracytine
Arafcyt
BIDD:GT0371
BIDD:PXR0139
BTB15125
Beta-cytosine arabinoside
C02961
C1768_SIGMA
C2035
C9H13N3O5
CCRIS 913
CHEBI:28680
CHEMBL803
CHX 3311
CID6253
CPD000449317
CYTARABINE (SEE ALSO CYTARABINE HYDROCHLORIDE 69-74-9)
Citarabina
Citarabina [INN-Spanish]
Cytarabin
Cytarabina
Cytarabine
Cytarabine (JP15/USP/INN)
 
Cytarabine [USAN:INN:BAN:JAN]
Cytarabine liposome injection
Cytarabinoside
Cytarabinum
Cytarabinum [INN-Latin]
Cytarbel
Cytonal
Cytosar
Cytosar-U
Cytosine 1-beta-D-arabinofuranoside
Cytosine arabinofuranoside
Cytosine arabinose
Cytosine arabinoside
Cytosine arabinoside (VAN)
Cytosine beta-D-arabinofuranoside
Cytosine beta-D-arabinofuranoside hydrochloride
Cytosine beta-D-arabinoside
Cytosine, beta -D-arabinoside
Cytosine, beta-D-arabinoside
Cytosine-1-beta-D-arabinofuranoside
Cytosine-1-beta-D-arabinofuranoside hydrochloride
Cytosine-beta -D-arabinofuranoside
Cytosine-beta -arabinoside
Cytosine-beta-D-arabinofuranoside
Cytosine-beta-arabinoside
Cytosinearabinoside
D00168
DB00987
DepoCyte
Depocyt
Depocyt (TN)
Depocyt (liposomal)
Depocyte
EINECS 205-705-9
Erpalfa
FT-0082880
HMS2051K19
HMS2090A18
HSDB 3049
Intrathecal (injected into the spinal fluid) DepoCyt
Intrathecal cytarabine (also known as ara-C)
Iretin
LS-860
Lopac0_000316
MLS000758310
MLS001066340
MolPort-001-792-509
NCGC00093356-03
NCGC00093356-04
NCGC00093356-05
NCI-C04728
NSC 287459
NSC287459
S1648_Selleck
SAM001247012
SMR000449317
SR-01000075773-3
Spongocytidine
TL8001048
Tarabine
U 19920A
U-19,920
U-19920
UNII-04079A1RDZ
Udicil
ZINC03795098
beta -D-arabinosylcytosine
beta -arabinosylcytosine
beta -cytosine arabinoside
beta-Ara C
beta-Ara c
beta-Arabinosylcytosine
beta-Cytosine arabinoside
beta-D-Arabinosylcytosine
cytarabine
cytarabine liposome injection
cytosine-β-D-arabinofuranoside
10
Folic Acidapproved, nutraceuticalPhase 2, Phase 3292459-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
11Peripheral Nervous System AgentsPhase 2, Phase 318510
12Analgesics, Non-NarcoticPhase 2, Phase 35184
13HormonesPhase 3, Phase 211748
14Hormone AntagonistsPhase 3, Phase 210002
15Growth Hormone-Releasing HormonePhase 324
16Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 29988
17insulinPhase 3, Phase 24278
18AnalgesicsPhase 2, Phase 39358
19Insulin, Globin ZincPhase 3, Phase 24278
20Methylprednisolone HemisuccinatePhase 2, Phase 31082
21Immunosuppressive AgentsPhase 2, Phase 310422
22Methylprednisolone acetatePhase 2, Phase 31082
23Rho(D) Immune GlobulinPhase 2, Phase 3206
24Tubulin ModulatorsPhase 2, Phase 34279
25Vitamin B ComplexPhase 2, Phase 32847
26Tocolytic AgentsPhase 2, Phase 3561
27Immunologic FactorsPhase 2, Phase 318483
28Prednisolone acetatePhase 2, Phase 31082
29Prednisolone phosphatePhase 2, Phase 31082
30Nucleic Acid Synthesis InhibitorsPhase 2, Phase 33836
31Prednisolone hemisuccinatePhase 2, Phase 31082
32Anti-Inflammatory Agents, Non-SteroidalPhase 2, Phase 33549
33AntimetabolitesPhase 2, Phase 39454
34Antimetabolites, AntineoplasticPhase 2, Phase 35770
35Anti-Inflammatory AgentsPhase 2, Phase 38478
36AntibodiesPhase 2, Phase 34477
37Immunoglobulins, IntravenousPhase 2, Phase 3211
382-chloro-3'-deoxyadenosinePhase 2, Phase 329
396-MercaptopurinePhase 2, Phase 3185
40Antimitotic AgentsPhase 2, Phase 34296
41Anti-Infective AgentsPhase 2, Phase 317220
42Dermatologic AgentsPhase 2, Phase 34555
43Antineoplastic Agents, PhytogenicPhase 2, Phase 34294
44ImmunoglobulinsPhase 2, Phase 34477
45Cyclooxygenase InhibitorsPhase 2, Phase 32225
46Folic Acid AntagonistsPhase 2, Phase 31643
47Antiviral AgentsPhase 2, Phase 38071
48Antirheumatic AgentsPhase 2, Phase 38496
49arginineNutraceuticalPhase 3364
50FolateNutraceuticalPhase 2, Phase 32924

Interventional clinical trials:

idNameStatusNCT IDPhase
1Comparative Validation of the Growth Hormone Releasing Hormone and Arginine Test for the Diagnosis of Adult Growth Hormone DeficiencyCompletedNCT01060488Phase 3
2LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell HistiocytosisRecruitingNCT02205762Phase 2, Phase 3
3Growth Hormone as Add-on Treatment in Severe Fibromyalgia With Low IGF-1 Serum Levels (56 Characters)CompletedNCT00497562Phase 2
4rhGH and rhIGF-1 Combination Therapy in Children With Short Stature Associated With IGF-1 DeficiencyTerminatedNCT00572156Phase 2
5Pegvisomant With Glucagon Test to Assess for Adult Growth Hormone DeficiencyRecruitingNCT01804413

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

Genetic Tests for Pituitary Hormone Deficiency, Combined, 2

About this section

Anatomical Context for Pituitary Hormone Deficiency, Combined, 2

About this section

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

33
Pituitary, Thyroid, Testes

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

About this section

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.4GHR, IGF1, LHX3, POU1F1, PRL, PROP1
2MP:00053797.2GHR, HESX1, IGF1, LHX3, LHX4, POMC
3MP:00053786.7GHR, HESX1, IGF1, LHX3, POMC, POU1F1
4MP:00053766.4AVP, GHR, IGF1, LHX3, LHX4, POMC
5MP:00036316.3AVP, GHR, HESX1, IGF1, LHX3, LHX4
6MP:00107686.3AVP, GHR, HESX1, IGF1, LHX3, LHX4

Publications for Pituitary Hormone Deficiency, Combined, 2

About this section

Variations for Pituitary Hormone Deficiency, Combined, 2

About this section

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

67
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:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1PROP1NM_006261.4(PROP1): c.274C> T (p.Gln92Ter)single nucleotide variantLikely pathogenicrs794726693GRCh38Chr 5, 177994174: 177994174
2PROP1NM_006261.4(PROP1): c.334C> T (p.Arg112Ter)single nucleotide variantLikely pathogenicrs766673446GRCh38Chr 5, 177994114: 177994114
3PROP1NM_006261.4(PROP1): c.310delC (p.Arg104Glyfs)deletionLikely pathogenicrs786204663GRCh38Chr 5, 177994138: 177994138
4PROP1NM_006261.4(PROP1): c.358C> T (p.Arg120Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121917839GRCh37Chr 5, 177420033: 177420033
5PROP1NM_006261.4(PROP1): c.349T> A (p.Phe117Ile)single nucleotide variantLikely pathogenic, Pathogenicrs121917840GRCh37Chr 5, 177420042: 177420042
6PROP1NM_006261.4(PROP1): c.150_151delAG (p.Gly52Glufs)deletionPathogenicrs587776681GRCh38Chr 5, 177994297: 177994298
7PROP1NM_006261.4(PROP1): c.301_302delAG (p.Leu102Cysfs)deletionPathogenicrs193922688GRCh37Chr 5, 177421147: 177421148
8PROP1NM_006261.4(PROP1): c.263T> C (p.Phe88Ser)single nucleotide variantPathogenicrs121917841GRCh37Chr 5, 177421186: 177421186
9PROP1NM_006261.4(PROP1): c.112_124delTCGAGTGCTCCAC (p.Ser38Profs)deletionLikely pathogenic, Pathogenicrs587776682GRCh38Chr 5, 177994324: 177994336
10PROP1NM_006261.4(PROP1): c.150delA (p.Arg53Aspfs)deletionPathogenicrs587776683GRCh38Chr 5, 177994298: 177994298
11PROP1NM_006261.4(PROP1): c.218G> A (p.Arg73His)single nucleotide variantPathogenicrs121917842GRCh37Chr 5, 177421231: 177421231
12PROP1NM_006261.4(PROP1): c.217C> T (p.Arg73Cys)single nucleotide variantPathogenicrs121917843GRCh37Chr 5, 177421232: 177421232
13PROP1NM_006261.4(PROP1): c.295C> T (p.Arg99Ter)single nucleotide variantPathogenicrs121917844GRCh37Chr 5, 177421154: 177421154
14PROP1NM_006261.4(PROP1): c.296G> A (p.Arg99Gln)single nucleotide variantPathogenicrs137853100GRCh37Chr 5, 177421153: 177421153
15PROP1NM_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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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:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1adenohypophysis developmentGO:002198410.6POU1F1, PROP1
2motor neuron axon guidanceGO:000804510.3LHX3, LHX4
3positive regulation of multicellular organism growthGO:004001810.2GH1, POU1F1
4pituitary gland developmentGO:002198310.2LHX3, SOX3
5JAK-STAT cascade involved in growth hormone signaling pathwayGO:006039710.1GH1, GHR
6insulin-like growth factor receptor signaling pathwayGO:004800910.1GHR, IGF1
7negative regulation of neuron deathGO:19012159.8GHR, IGF1
8generation of precursor metabolites and energyGO:00060919.7AVP, POMC
9positive regulation of JAK-STAT cascadeGO:00464279.6GH1, GHR, PRL
10positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.6GH1, GHR, IGF1
11peptide hormone processingGO:00164869.5POMC, TSHB
12ERK1 and ERK2 cascadeGO:00703719.4AVP, IGF1
13positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.3GH1, GHR, IGF1
14regulation of multicellular organism growthGO:00400149.2GHR, IGF1, PRL
15negative regulation of apoptotic processGO:00430668.8AVP, IGF1, LHX3, LHX4

Sources for Pituitary Hormone Deficiency, Combined, 2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet