Entry - #613986 - PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6 - OMIM - (OMIM.ORG)

 
ICD+
# 613986

PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
14q22.3 Pituitary hormone deficiency, combined, 6 613986 AD 3 OTX2 600037
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE - Autosomal dominant [SNOMEDCT: 263681008, 771269000] [UMLS: C1867440, C0443147 HPO: HP:0000006] [HPO: HP:0000006] GROWTH Height - Short stature [SNOMEDCT: 422065006, 237837007, 237836003] [ICD10CM: E34. 31, R62. 52] [ICD9CM: 783. 43] [UMLS: C0013336, C0349588 HPO: HP:0004322, HP:0003510] [HPO: HP:0004322] NEUROLOGIC Central Nervous System - Pituitary hypoplasia [UMLS: C0948740 HPO: HP:0010627] - Ectopic posterior pituitary [UMLS: C3279571 HPO: HP:0011755] [HPO: HP:0011755] ENDOCRINE FEATURES - Pituitary hormone deficiencies [UMLS: C0857439] MOLECULAR BASIS - Caused by mutation in the homolog of the drosophila orthodenticle 2 gene (OTX2, 600038. 0006) ▲ Close Pituitary hormone deficiency, combined - PS613038 - 10 Entries Location Phenotype Inheritance Phenotypemapping key PhenotypeMIM number Gene/Locus Gene/LocusMIM number 1p21. 1 Pituitary hormone deficiency, combined or isolated, 7 AR 3 618160 RNPC3 618016 1q25. 2 Pituitary hormone deficiency, combined, 4 AD 3 262700 LHX4 602146 3p14 VSports app下载. 3 Septooptic dysplasia AD, AR 3 182230 HESX1 601802 3p14. 3 Pituitary hormone deficiency, combined, 5 AD, AR 3 182230 HESX1 601802 3p14. 3 Growth hormone deficiency with pituitary anomalies AD, AR 3 182230 HESX1 601802 3p12. 3 Pituitary hormone deficiency, combined or isolated, 8 AD 3 620303 ROBO1 602430 3p11. 2 Pituitary hormone deficiency, combined or isolated, 1 AD, AR 3 613038 POU1F1 173110 5q35. 3 Pituitary hormone deficiency, combined, 2 AR 3 262600 PROP1 601538 9q34. 3 Pituitary hormone deficiency, combined, 3 AR 3 221750 LHX3 600577 14q22. 3 Pituitary hormone deficiency, combined, 6 AD 3 613986 OTX2 600037 ▲ Close ▼ TEXT A number sign (#) is used with this entry because combined pituitary hormone deficiency-6 (CPHD6) is caused by heterozygous mutation in the OTX2 gene (600037) on chromosome 14q21.

For discussion of phenotypic and genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).

Heterozygous mutation in the OTX2 gene can also cause microphthalmia with associated features, including pituitary dysfunction (see MCOPS5, 610125).


▼ Clinical Features

Diaczok et al. (2008) reported 2 unrelated patients with combined pituitary hormone deficiency and mutation in the OTX2 gene. One was a 6-year-old boy with deficiency of GH, adrenocorticotropic hormone (ACTH), thyroid-stimulating hormone (TSH), luteinizing hormone (LH), and follicle-stimulating hormone (FSH), who on MRI had an ectopic neurohypophysis, along with a hypoplastic adenohypophysis and absent or severely hypoplastic pituitary stalk. The other patient was a 14-year-old girl with deficiency of TSH, ACTH, and GH, in whom MRI at age 2 months showed hypoplasia of the pituitary with a posterior bright spot. Neither patient had midline or optic nerve abnormalities. V体育安卓版.

▼ Molecular Genetics

In 19 patients with hypopituitarism, Diaczok et al. (2008) analyzed 8 genes encoding pituitary-specific transcription factors, including HESX1 (601802), LHX3 (600577), LHX4 (602146), OTX2, PITX2 (601542), POU1F1 (173110), PROP1 (601538), and SIX6 (606326), and identified heterozygosity for a missense mutation in the OTX2 gene (600037 V体育ios版. 0006) in 2 unrelated patients. .

▼ REFERENCES

Diaczok, D. , Romero, C. , Zunich, J. , Marshall, I. , Radovick, S VSports最新版本. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. J. Clin. Endocr. Metab. 93: 4351-4359, 2008. [PubMed: 18728160, images, related citations] [Full Text] .


Creation Date:
Marla J. F. O'Neill : 5/20/2011
Edit History:
alopez : 07/17/2024
carol : 08/21/2013
wwang : 5/20/2011

# 613986

PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6


ORPHA: 95494;   DO: 0061022;   MONDO: 0013518;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
14q22.3 Pituitary hormone deficiency, combined, 6 613986 Autosomal dominant 3 OTX2 600037

TEXT

A number sign (#) is used with this entry because combined pituitary hormone deficiency-6 (CPHD6) is caused by heterozygous mutation in the OTX2 gene (600037) on chromosome 14q21.

For discussion of phenotypic and genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).

Heterozygous mutation in the OTX2 gene can also cause microphthalmia with associated features, including pituitary dysfunction (see MCOPS5, 610125).

Clinical Features

Diaczok et al. (2008) reported 2 unrelated patients with combined pituitary hormone deficiency and mutation in the OTX2 gene. One was a 6-year-old boy with deficiency of GH, adrenocorticotropic hormone (ACTH), thyroid-stimulating hormone (TSH), luteinizing hormone (LH), and follicle-stimulating hormone (FSH), who on MRI had an ectopic neurohypophysis, along with a hypoplastic adenohypophysis and absent or severely hypoplastic pituitary stalk V体育2025版. The other patient was a 14-year-old girl with deficiency of TSH, ACTH, and GH, in whom MRI at age 2 months showed hypoplasia of the pituitary with a posterior bright spot. Neither patient had midline or optic nerve abnormalities. .

Molecular Genetics

In 19 patients with hypopituitarism, Diaczok et al. (2008) analyzed 8 genes encoding pituitary-specific transcription factors, including HESX1 (601802), LHX3 (600577), LHX4 (602146), OTX2, PITX2 (601542), POU1F1 (173110), PROP1 (601538), and SIX6 (606326), and identified heterozygosity for a missense mutation in the OTX2 gene (600037. 0006) in 2 unrelated patients VSports. .

REFERENCES

Diaczok, D. , Romero, C. , Zunich, J VSports app下载. , Marshall, I. , Radovick, S. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. J. Clin. Endocr. Metab. 93: 4351-4359, 2008. [PubMed: 18728160] [Full Text: https://doi. org/10. 1210/jc. 2008-1189] .


Creation Date:
Marla J. F. O'Neill : 5/20/2011

Edit History:
alopez : 07/17/2024
carol : 08/21/2013
wwang : 5/20/2011



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