CPHD6
MCID: PTT043
MIFTS: 19

Pituitary Hormone Deficiency, Combined, 6 (CPHD6)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 6

MalaCards integrated aliases for Pituitary Hormone Deficiency, Combined, 6:

Name: Pituitary Hormone Deficiency, Combined, 6 57 72 13 70
Pituitary Hormone Deficiency, Combined 6 29 6
Cphd6 57 72
Hormone Deficiency, Pituitary, Combined, Type 6 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
pituitary hormone deficiency, combined, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 613986
OMIM Phenotypic Series 57 PS613038
MeSH 44 D007018
MedGen 41 C3151440
SNOMED-CT via HPO 68 237836003 263681008 715727009
UMLS 70 C3151440

Summaries for Pituitary Hormone Deficiency, Combined, 6

UniProtKB/Swiss-Prot : 72 Pituitary hormone deficiency, combined, 6: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone.

MalaCards based summary : Pituitary Hormone Deficiency, Combined, 6, is also known as pituitary hormone deficiency, combined 6. An important gene associated with Pituitary Hormone Deficiency, Combined, 6 is OTX2 (Orthodenticle Homeobox 2). Affiliated tissues include pituitary, and related phenotypes are short stature and ectopic posterior pituitary

More information from OMIM: 613986 PS613038

Related Diseases for Pituitary Hormone Deficiency, Combined, 6

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 6

Human phenotypes related to Pituitary Hormone Deficiency, Combined, 6:

31
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 ectopic posterior pituitary 31 HP:0011755

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Endocrine Features:
pituitary hormone deficiencies

Neurologic Central Nervous System:
ectopic posterior pituitary
pituitary hypoplasia

Clinical features from OMIM®:

613986 (Updated 20-May-2021)

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 6

Search Clinical Trials , NIH Clinical Center for Pituitary Hormone Deficiency, Combined, 6

Genetic Tests for Pituitary Hormone Deficiency, Combined, 6

Genetic tests related to Pituitary Hormone Deficiency, Combined, 6:

# Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 6 29 OTX2

Anatomical Context for Pituitary Hormone Deficiency, Combined, 6

MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 6:

40
Pituitary

Publications for Pituitary Hormone Deficiency, Combined, 6

Articles related to Pituitary Hormone Deficiency, Combined, 6:

# Title Authors PMID Year
1
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 57 6
18728160 2008

Variations for Pituitary Hormone Deficiency, Combined, 6

ClinVar genetic disease variations for Pituitary Hormone Deficiency, Combined, 6:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OTX2 NM_021728.4(OTX2):c.698A>G (p.Asn233Ser) SNV Pathogenic 30023 rs370761964 GRCh37: 14:57268649-57268649
GRCh38: 14:56801931-56801931
2 OTX2 NM_021728.4(OTX2):c.270G>T (p.Val90=) SNV Uncertain significance 313421 rs747916036 GRCh37: 14:57270909-57270909
GRCh38: 14:56804191-56804191
3 OTX2 NM_021728.4(OTX2):c.273+11T>C SNV Uncertain significance 313420 rs371958059 GRCh37: 14:57270895-57270895
GRCh38: 14:56804177-56804177
4 OTX2 NM_021728.4(OTX2):c.464C>G (p.Ala155Gly) SNV Uncertain significance 881937 GRCh37: 14:57268883-57268883
GRCh38: 14:56802165-56802165
5 OTX2 NM_021728.4(OTX2):c.444G>A (p.Pro148=) SNV Uncertain significance 881938 GRCh37: 14:57268903-57268903
GRCh38: 14:56802185-56802185
6 OTX2 NM_021728.4(OTX2):c.406A>G (p.Ser136Gly) SNV Uncertain significance 883118 GRCh37: 14:57268941-57268941
GRCh38: 14:56802223-56802223
7 OTX2 NM_021728.4(OTX2):c.730G>A (p.Ala244Thr) SNV Uncertain significance 1029266 GRCh37: 14:57268617-57268617
GRCh38: 14:56801899-56801899
8 OTX2 NM_021728.4(OTX2):c.*648C>G SNV Uncertain significance 313411 rs886050556 GRCh37: 14:57267805-57267805
GRCh38: 14:56801087-56801087
9 OTX2 NM_021728.4(OTX2):c.*764G>A SNV Uncertain significance 313410 rs775857186 GRCh37: 14:57267689-57267689
GRCh38: 14:56800971-56800971
10 OTX2 NM_021728.4(OTX2):c.*219G>A SNV Uncertain significance 313416 rs886050559 GRCh37: 14:57268234-57268234
GRCh38: 14:56801516-56801516
11 OTX2 NM_021728.4(OTX2):c.*647A>G SNV Uncertain significance 313412 rs886050557 GRCh37: 14:57267806-57267806
GRCh38: 14:56801088-56801088
12 OTX2 NM_021728.4(OTX2):c.*933C>T SNV Uncertain significance 313408 rs886050555 GRCh37: 14:57267520-57267520
GRCh38: 14:56800802-56800802
13 OTX2 NM_021728.4(OTX2):c.380G>T (p.Arg127Leu) SNV Uncertain significance 313418 rs199799627 GRCh37: 14:57268967-57268967
GRCh38: 14:56802249-56802249
14 OTX2 NM_021728.4(OTX2):c.-119-65G>T SNV Uncertain significance 313424 rs886050561 GRCh37: 14:57272358-57272358
GRCh38: 14:56805640-56805640
15 OTX2 NM_021728.4(OTX2):c.96G>T (p.Pro32=) SNV Uncertain significance 880601 GRCh37: 14:57272079-57272079
GRCh38: 14:56805361-56805361
16 OTX2 NM_021728.4(OTX2):c.*1018T>C SNV Uncertain significance 881431 GRCh37: 14:57267435-57267435
GRCh38: 14:56800717-56800717
17 OTX2 NM_021728.4(OTX2):c.*993G>C SNV Uncertain significance 881432 GRCh37: 14:57267460-57267460
GRCh38: 14:56800742-56800742
18 OTX2 NM_021728.4(OTX2):c.*667A>C SNV Uncertain significance 881870 GRCh37: 14:57267786-57267786
GRCh38: 14:56801068-56801068
19 OTX2 NM_021728.4(OTX2):c.*648C>A SNV Uncertain significance 883039 GRCh37: 14:57267805-57267805
GRCh38: 14:56801087-56801087
20 OTX2 NM_021728.4(OTX2):c.*543A>G SNV Uncertain significance 883040 GRCh37: 14:57267910-57267910
GRCh38: 14:56801192-56801192
21 OTX2 NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) SNV Uncertain significance 803030 rs199761861 GRCh37: 14:57268922-57268922
GRCh38: 14:56802204-56802204
22 OTX2 NM_021728.4(OTX2):c.*147G>T SNV Uncertain significance 883822 GRCh37: 14:57268306-57268306
GRCh38: 14:56801588-56801588
23 OTX2 NM_021728.4(OTX2):c.713A>T (p.His238Leu) SNV Uncertain significance 881494 GRCh37: 14:57268634-57268634
GRCh38: 14:56801916-56801916
24 OTX2 NM_021728.4(OTX2):c.380G>C (p.Arg127Pro) SNV Uncertain significance 313419 rs199799627 GRCh37: 14:57268967-57268967
GRCh38: 14:56802249-56802249
25 OTX2 NM_021728.4(OTX2):c.641C>A (p.Thr214Asn) SNV Likely benign 288894 rs150982073 GRCh37: 14:57268706-57268706
GRCh38: 14:56801988-56801988
26 OTX2 NM_021728.4(OTX2):c.*316G>A SNV Likely benign 313415 rs142727455 GRCh37: 14:57268137-57268137
GRCh38: 14:56801419-56801419
27 OTX2 NM_021728.4(OTX2):c.840T>C (p.Ala280=) SNV Likely benign 760170 rs201396096 GRCh37: 14:57268507-57268507
GRCh38: 14:56801789-56801789
28 OTX2 NM_021728.4(OTX2):c.*966A>G SNV Benign 313407 rs57390094 GRCh37: 14:57267487-57267487
GRCh38: 14:56800769-56800769
29 OTX2 NM_021728.4(OTX2):c.97+12C>T SNV Benign 313422 rs28757218 GRCh37: 14:57272066-57272066
GRCh38: 14:56805348-56805348
30 OTX2 NM_021728.4(OTX2):c.459C>T (p.Ser153=) SNV Benign 313417 rs34537598 GRCh37: 14:57268888-57268888
GRCh38: 14:56802170-56802170
31 OTX2 NM_021728.4(OTX2):c.*779G>A SNV Benign 313409 rs138197536 GRCh37: 14:57267674-57267674
GRCh38: 14:56800956-56800956
32 OTX2 NM_021728.4(OTX2):c.*10G>A SNV Benign 288866 rs171978 GRCh37: 14:57268443-57268443
GRCh38: 14:56801725-56801725

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 6:

72
# Symbol AA change Variation ID SNP ID
1 OTX2 p.Asn225Ser VAR_065953 rs370761964

Expression for Pituitary Hormone Deficiency, Combined, 6

Search GEO for disease gene expression data for Pituitary Hormone Deficiency, Combined, 6.

Pathways for Pituitary Hormone Deficiency, Combined, 6

GO Terms for Pituitary Hormone Deficiency, Combined, 6

Sources for Pituitary Hormone Deficiency, Combined, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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