MCID: PTT045
MIFTS: 22

Pituitary Hormone Deficiency, Combined, 1

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 1

MalaCards integrated aliases for Pituitary Hormone Deficiency, Combined, 1:

Name: Pituitary Hormone Deficiency, Combined, 1 53 71 13 69
Cphd1 53 49 71
Pituitary Hormone Deficiency, Combined 1 49 28

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive
autosomal dominant


HPO:

31
pituitary hormone deficiency, combined, 1:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Pituitary Hormone Deficiency, Combined, 1

OMIM : 53 Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; 176760), and thyroid-stimulating hormone (TSH; see 188540), while the production of adrenocorticotrophic hormone (ACTH; see 176830), luteinizing hormone (LH; 152780), and follicle-stimulating hormone (FSH; 136530) are preserved (Wu et al., 1998). 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 (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992). (613038)

MalaCards based summary : Pituitary Hormone Deficiency, Combined, 1, is also known as cphd1, 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). Affiliated tissues include pituitary, eye and thyroid.

UniProtKB/Swiss-Prot : 71 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

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 1

Symptoms via clinical synopsis from OMIM:

53
Endocrine Features:
hypothyroidism

Head And Neck Head:
prominent forehead

Head And Neck Eyes:
deep-set eyes

Growth Height:
short stature (if untreated)

Growth Other:
severe growth retardation in infancy

Skeletal Skull:
open sutures (untreated hypothyroidism)
open fontanelles (untreated hypothyroidism)

Neurologic Central Nervous System:
hypoplasia of anterior or entire pituitary gland (frequent)
mental retardation (untreated hypothyroidism)

Head And Neck Nose:
depressed nasal bridge
short nose with anteverted nostrils

Head And Neck Face:
midface hypoplasia

Skin Nails Hair Skin:
jaundice, neonatal
myxedema (untreated hypothyroidism)

Laboratory Abnormalities:
low or absent growth hormone (gh)
low or absent thyroid-stimulating hormone (tsh)
low or absent prolactin (pl)

Head And Neck Mouth:
macroglossia (untreated hypothyroidism)

Muscle Soft Tissue:
hypotonia (untreated hypothyroidism)


Clinical features from OMIM:

613038

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 frontal bossing 31 HP:0002007
3 hypothyroidism 31 HP:0000821
4 intellectual disability 31 HP:0001249
5 macroglossia 31 HP:0000158
6 depressed nasal bridge 31 HP:0005280
7 short nose 31 HP:0003196
8 anteverted nares 31 HP:0000463
9 short stature 31 HP:0004322
10 prominent forehead 31 HP:0011220
11 deeply set eye 31 HP:0000490
12 midface retrusion 31 HP:0011800
13 prolonged neonatal jaundice 31 HP:0006579
14 severe postnatal growth retardation 31 HP:0008850
15 delayed cranial suture closure 31 HP:0000270
16 generalized hypotonia 31 HP:0001290

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 1

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 1 28 POU1F1

Anatomical Context for Pituitary Hormone Deficiency, Combined, 1

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

38
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:

71 (show all 13)
# 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)
# 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_000306.3(POU1F1): c.515G> A (p.Arg172Gln) single nucleotide variant Pathogenic/Likely 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....