CPHD1
MCID: PTT020
MIFTS: 24

Pituitary Hormone Deficiency, Combined 1 (CPHD1) malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Summaries for Pituitary Hormone Deficiency, Combined 1

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OMIM:46 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, is also known as pituitary hormone deficiency, combined, 1, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and macroglossia. An important gene associated with Pituitary Hormone Deficiency, Combined 1 is POU1F1 (POU class 1 homeobox 1). Affiliated tissues include pituitary, eye and thyroid.

Aliases & Classifications for Pituitary Hormone Deficiency, Combined 1

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Pituitary Hormone Deficiency, Combined 1, Aliases & Descriptions:

Name: Pituitary Hormone Deficiency, Combined 1 42 23
Pituitary Hormone Deficiency, Combined, 1 46 61
 
Cphd1 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Related Diseases for Pituitary Hormone Deficiency, Combined 1

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Symptoms for Pituitary Hormone Deficiency, Combined 1

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Symptoms by clinical synopsis from OMIM:

613038

Clinical features from OMIM:

613038

HPO human phenotypes related to Pituitary Hormone Deficiency, Combined 1:

(show all 18)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 macroglossia HP:0000158
4 delayed cranial suture closure HP:0000270
5 malar flattening HP:0000272
6 anteverted nares HP:0000463
7 deeply set eye HP:0000490
8 hypothyroidism HP:0000821
9 intellectual disability HP:0001249
10 muscular hypotonia HP:0001252
11 frontal bossing HP:0002007
12 short nose HP:0003196
13 short stature HP:0004322
14 depressed nasal bridge HP:0005280
15 prolonged neonatal jaundice HP:0006579
16 severe postnatal growth retardation HP:0008850
17 prominent forehead HP:0011220
18 midface retrusion HP:0011800

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined 1

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Drug clinical trials:

Search ClinicalTrials for Pituitary Hormone Deficiency, Combined 1

Search NIH Clinical Center for Pituitary Hormone Deficiency, Combined 1

Genetic Tests for Pituitary Hormone Deficiency, Combined 1

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Genetic tests related to Pituitary Hormone Deficiency, Combined 1:

id Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 123

Anatomical Context for Pituitary Hormone Deficiency, Combined 1

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

32
Pituitary, Eye, Thyroid

Animal Models for Pituitary Hormone Deficiency, Combined 1 or affiliated genes

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Publications for Pituitary Hormone Deficiency, Combined 1

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Variations for Pituitary Hormone Deficiency, Combined 1

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

63 (show all 11)
id Symbol AA change Variation ID SNP ID
1POU1F1p.Pro24LeuVAR_003777
2POU1F1p.Arg143GlnVAR_003778
3POU1F1p.Ala158ProVAR_003779
4POU1F1p.Arg271TrpVAR_003781
5POU1F1p.Phe135CysVAR_010574
6POU1F1p.Glu174GlyVAR_010575
7POU1F1p.Pro239SerVAR_010576
8POU1F1p.Trp193ArgVAR_015260
9POU1F1p.Arg172GlnVAR_063425
10POU1F1p.Ser179ArgVAR_063426
11POU1F1p.Glu230LysVAR_063427

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

7 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1POU1F1NM_001122757.2(POU1F1): c.743+1G> Tsingle nucleotide variantPathogenicrs515726221GRCh38Chr 3, 87261272: 87261272
2POU1F1NM_001122757.2(POU1F1): c.592C> T (p.Arg198Ter)single nucleotide variantPathogenicrs104893754GRCh37Chr 3, 87311311: 87311311
3POU1F1NM_001122757.2(POU1F1): c.889C> T (p.Arg297Trp)single nucleotide variantPathogenicrs104893755GRCh37Chr 3, 87309109: 87309109
4POU1F1NM_001122757.2(POU1F1): c.550G> C (p.Ala184Pro)single nucleotide variantPathogenicrs104893756GRCh37Chr 3, 87311353: 87311353
5POU1F1NM_001122757.2(POU1F1): c.71C> T (p.Pro24Leu)single nucleotide variantPathogenicrs104893757GRCh37Chr 3, 87325542: 87325542
6POU1F1NM_001122757.2(POU1F1): c.506G> A (p.Arg169Gln)single nucleotide variantPathogenicrs104893759GRCh37Chr 3, 87313449: 87313449
7POU1F1NM_001122757.2(POU1F1): c.826G> T (p.Glu276Ter)single nucleotide variantPathogenicrs104893760GRCh37Chr 3, 87309172: 87309172
8POU1F1NM_001122757.2(POU1F1): c.482T> G (p.Phe161Cys)single nucleotide variantPathogenicrs104893761GRCh37Chr 3, 87313473: 87313473
9POU1F1NM_001122757.2(POU1F1): c.793C> T (p.Pro265Ser)single nucleotide variantPathogenicrs104893762GRCh37Chr 3, 87309205: 87309205
10POU1F1NM_001122757.2(POU1F1): c.825delA (p.Glu276Asnfs)deletionPathogenicGRCh37Chr 3, 87309173: 87309173
11POU1F1NM_001122757.2(POU1F1): c.655T> C (p.Trp219Arg)single nucleotide variantPathogenicrs104893758GRCh37Chr 3, 87311248: 87311248
12POU1F1NM_001122757.2(POU1F1): c.511A> T (p.Lys171Ter)single nucleotide variantPathogenicrs104893763GRCh37Chr 3, 87313444: 87313444
13POU1F1NM_001122757.2(POU1F1): c.766G> A (p.Glu256Lys)single nucleotide variantPathogenicrs104893764GRCh37Chr 3, 87309232: 87309232
14POU1F1NM_001122757.2(POU1F1): c.593G> A (p.Arg198Gln)single nucleotide variantPathogenicrs104893765GRCh37Chr 3, 87311310: 87311310
15POU1F1NM_001122757.2(POU1F1): c.853dupA (p.Arg285Lysfs)duplicationPathogenicGRCh37Chr 3, 87309145: 87309145
16POU1F1NM_001122757.2(POU1F1): c.615C> G (p.Ser205Arg)single nucleotide variantPathogenicrs104893766GRCh37Chr 3, 87311288: 87311288

Expression for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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Expression patterns in normal tissues for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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

Pathways for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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Compounds for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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GO Terms for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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Products for genes affiliated with Pituitary Hormone Deficiency, Combined 1

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

Sources for Pituitary Hormone Deficiency, Combined 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet