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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Looking for an antibody for researching pituitary hormone deficiency, combined 1?

POU1F1 antibody
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 Array 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:

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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

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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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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