CPHD1
MCID: PTT045
MIFTS: 30

Pituitary Hormone Deficiency, Combined, 1 (CPHD1) malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 1

Aliases & Descriptions for Pituitary Hormone Deficiency, Combined, 1:

Name: Pituitary Hormone Deficiency, Combined, 1 54 66 13 69
Cphd1 50 66
Pituitary Hormone Deficiency, Combined 1 50
Combined Pituitary Hormone Deficiency 1 29

Characteristics:

HPO:

32
pituitary hormone deficiency, combined, 1:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613038
MedGen 40 C2751608
MeSH 42 D007018

Summaries for Pituitary Hormone Deficiency, Combined, 1

OMIM : 54 Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one... (613038) more...

MalaCards based summary : Pituitary Hormone Deficiency, Combined, 1, also known as cphd1, is related to pou1f1-related combined pituitary hormone deficiency, and has symptoms including malar flattening, frontal bossing and hypothyroidism. An important gene associated with Pituitary Hormone Deficiency, Combined, 1 is POU1F1 (POU Class 1 Homeobox 1). The drugs Cosyntropin and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, eye and thyroid.

UniProtKB/Swiss-Prot : 66 Pituitary hormone deficiency, combined, 1: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe mental retardation along with short stature.

Related Diseases for Pituitary Hormone Deficiency, Combined, 1

Diseases related to Pituitary Hormone Deficiency, Combined, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pou1f1-related combined pituitary hormone deficiency 11.1

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 1

Symptoms by clinical synopsis from OMIM:

613038

Clinical features from OMIM:

613038

Human phenotypes related to Pituitary Hormone Deficiency, Combined, 1:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 frontal bossing 32 HP:0002007
3 hypothyroidism 32 HP:0000821
4 intellectual disability 32 HP:0001249
5 muscular hypotonia 32 HP:0001252
6 macroglossia 32 HP:0000158
7 depressed nasal bridge 32 HP:0005280
8 short nose 32 HP:0003196
9 anteverted nares 32 HP:0000463
10 short stature 32 HP:0004322
11 prominent forehead 32 HP:0011220
12 deeply set eye 32 HP:0000490
13 midface retrusion 32 HP:0011800
14 prolonged neonatal jaundice 32 HP:0006579
15 severe postnatal growth retardation 32 HP:0008850
16 delayed cranial suture closure 32 HP:0000270

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 1

Drugs for Pituitary Hormone Deficiency, Combined, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 93)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cosyntropin Approved Phase 4 16960-16-0 16129617
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
4 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3
5 Cortisol succinate Phase 4
6 Epinephryl borate Phase 4
7 Hormone Antagonists Phase 4,Phase 3,Phase 2
8 Hormones Phase 4,Phase 3,Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
10 Hydrocortisone 17-butyrate 21-propionate Phase 4
11 Hydrocortisone acetate Phase 4
12 Racepinephrine Phase 4
13
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
14
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
15
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
16
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
17
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
18
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
19
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
20
Vinblastine Approved Phase 2, Phase 3 865-21-4 13342 241903
21
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
23
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 54575, 6560146 143
24 insulin Phase 3,Phase 2
25 Insulin, Globin Zinc Phase 3,Phase 2
26 Growth Hormone-Releasing Hormone Phase 3
27 Analgesics Phase 2, Phase 3
28 Analgesics, Non-Narcotic Phase 2, Phase 3
29 Peripheral Nervous System Agents Phase 2, Phase 3
30 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
31 6-Mercaptopurine Phase 2, Phase 3
32 Antibodies Phase 2, Phase 3
33 Anti-Infective Agents Phase 2, Phase 3
34 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
35 Antimetabolites Phase 2, Phase 3
36 Antimetabolites, Antineoplastic Phase 2, Phase 3
37 Antimitotic Agents Phase 2, Phase 3
38 Antineoplastic Agents, Hormonal Phase 2, Phase 3
39 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
40 Antirheumatic Agents Phase 2, Phase 3
41 Antiviral Agents Phase 2, Phase 3
42 Cyclooxygenase Inhibitors Phase 2, Phase 3
43 Dermatologic Agents Phase 2, Phase 3
44 Folic Acid Antagonists Phase 2, Phase 3
45 gamma-Globulins Phase 2, Phase 3
46 glucocorticoids Phase 2, Phase 3
47 Immunoglobulins Phase 2, Phase 3
48 Immunoglobulins, Intravenous Phase 2, Phase 3
49 Immunosuppressive Agents Phase 2, Phase 3
50 Methylprednisolone acetate Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Unknown status NCT00851942 Phase 4
2 Comparative Validation of the Growth Hormone Releasing Hormone and Arginine Test for the Diagnosis of Adult Growth Hormone Deficiency Completed NCT01060488 Phase 3
3 LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell Histiocytosis Recruiting NCT02205762 Phase 2, Phase 3
4 Growth Hormone as Add-on Treatment in Severe Fibromyalgia With Low IGF-1 Serum Levels (56 Characters) Completed NCT00497562 Phase 2
5 rhGH and rhIGF-1 Combination Therapy in Children With Short Stature Associated With IGF-1 Deficiency Terminated NCT00572156 Phase 2
6 Pegvisomant With Glucagon Test to Assess for Adult Growth Hormone Deficiency Unknown status NCT01804413
7 A Prospective Observational Study of Effect of Somatropin on Growth Hormone Deficient Adults Completed NCT01088399
8 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, 1

Genetic Tests for Pituitary Hormone Deficiency, Combined, 1

Genetic tests related to Pituitary Hormone Deficiency, Combined, 1:

id Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 1 29

Anatomical Context for Pituitary Hormone Deficiency, Combined, 1

MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 1:

39
Pituitary, Eye, Thyroid

Publications for Pituitary Hormone Deficiency, Combined, 1

Variations for Pituitary Hormone Deficiency, Combined, 1

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 1:

66 (show all 13)
id Symbol AA change Variation ID SNP ID
1 POU1F1 p.Pro24Leu VAR_003777 rs104893757
2 POU1F1 p.Arg143Gln VAR_003778 rs104893759
3 POU1F1 p.Ala158Pro VAR_003779 rs104893756
4 POU1F1 p.Arg271Trp VAR_003781 rs104893755
5 POU1F1 p.Phe135Cys VAR_010574 rs104893761
6 POU1F1 p.Glu174Gly VAR_010575
7 POU1F1 p.Pro239Ser VAR_010576 rs104893762
8 POU1F1 p.Trp193Arg VAR_015260 rs104893758
9 POU1F1 p.Arg172Gln VAR_063425 rs104893765
10 POU1F1 p.Ser179Arg VAR_063426 rs104893766
11 POU1F1 p.Glu230Lys VAR_063427 rs104893764
12 POU1F1 p.Pro76Leu VAR_075530
13 POU1F1 p.Arg265Trp VAR_075531 rs780359925

ClinVar genetic disease variations for Pituitary Hormone Deficiency, Combined, 1:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 POU1F1 NM_001122757.2(POU1F1): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs104893754 GRCh37 Chromosome 3, 87311311: 87311311
2 POU1F1 NM_001122757.2(POU1F1): c.889C> T (p.Arg297Trp) single nucleotide variant Pathogenic rs104893755 GRCh37 Chromosome 3, 87309109: 87309109
3 POU1F1 NM_001122757.2(POU1F1): c.550G> C (p.Ala184Pro) single nucleotide variant Pathogenic rs104893756 GRCh37 Chromosome 3, 87311353: 87311353
4 POU1F1 NM_001122757.2(POU1F1): c.71C> T (p.Pro24Leu) single nucleotide variant Pathogenic rs104893757 GRCh37 Chromosome 3, 87325542: 87325542
5 POU1F1 NM_001122757.2(POU1F1): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic rs104893759 GRCh37 Chromosome 3, 87313449: 87313449
6 POU1F1 NM_001122757.2(POU1F1): c.826G> T (p.Glu276Ter) single nucleotide variant Pathogenic rs104893760 GRCh37 Chromosome 3, 87309172: 87309172
7 POU1F1 NM_001122757.2(POU1F1): c.482T> G (p.Phe161Cys) single nucleotide variant Pathogenic rs104893761 GRCh37 Chromosome 3, 87313473: 87313473
8 POU1F1 NM_001122757.2(POU1F1): c.793C> T (p.Pro265Ser) single nucleotide variant Pathogenic rs104893762 GRCh37 Chromosome 3, 87309205: 87309205
9 POU1F1 NM_001122757.2(POU1F1): c.825delA (p.Glu276Asnfs) deletion Pathogenic rs587776798 GRCh37 Chromosome 3, 87309173: 87309173
10 POU1F1 NM_001122757.2(POU1F1): c.655T> C (p.Trp219Arg) single nucleotide variant Pathogenic rs104893758 GRCh37 Chromosome 3, 87311248: 87311248
11 POU1F1 NM_001122757.2(POU1F1): c.511A> T (p.Lys171Ter) single nucleotide variant Pathogenic rs104893763 GRCh37 Chromosome 3, 87313444: 87313444
12 POU1F1 NM_001122757.2(POU1F1): c.766G> A (p.Glu256Lys) single nucleotide variant Pathogenic rs104893764 GRCh37 Chromosome 3, 87309232: 87309232
13 POU1F1 NM_001122757.2(POU1F1): c.593G> A (p.Arg198Gln) single nucleotide variant Pathogenic rs104893765 GRCh37 Chromosome 3, 87311310: 87311310
14 POU1F1 NM_001122757.2(POU1F1): c.853dupA (p.Arg285Lysfs) duplication Pathogenic rs587776799 GRCh37 Chromosome 3, 87309145: 87309145
15 POU1F1 NM_001122757.2(POU1F1): c.615C> G (p.Ser205Arg) single nucleotide variant Pathogenic rs104893766 GRCh37 Chromosome 3, 87311288: 87311288
16 POU1F1 NM_001122757.2(POU1F1): c.743+1G> T single nucleotide variant Pathogenic rs515726221 GRCh38 Chromosome 3, 87261272: 87261272
17 POU1F1 NC_000003.12: g.87310484C> T single nucleotide variant Likely pathogenic rs606231411 GRCh38 Chromosome 3, 87310484: 87310484
18 POU1F1 NM_001122757.2(POU1F1): c.712_716delGAAAG (p.Arg239Lysfs) deletion Pathogenic rs886037826 GRCh37 Chromosome 3, 87310450: 87310454
19 POU1F1 NM_001122757.2(POU1F1): c.293-3C> G single nucleotide variant Likely pathogenic rs754584667 GRCh37 Chromosome 3, 87313665: 87313665

Expression for Pituitary Hormone Deficiency, Combined, 1

Search GEO for disease gene expression data for Pituitary Hormone Deficiency, Combined, 1.

Pathways for Pituitary Hormone Deficiency, Combined, 1

GO Terms for Pituitary Hormone Deficiency, Combined, 1

Sources for Pituitary Hormone Deficiency, Combined, 1

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7 CNVD
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10 dbSNP
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16 ExPASy
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