Pituitary Hormone Deficiency, Combined, 3; Cphd3

Description

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

Clinical Features

Top most frequent phenotypes and symptoms related to Pituitary Hormone Deficiency, Combined, 3; Cphd3

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Myopathy
  • Delayed speech and language development
  • Short neck
And another 27 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Pituitary Hormone Deficiency, Combined, 3; Cphd3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LHX3-Related Combined Pituitary Hormone Deficiency.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

LHX3
Specificity
100 %
Genes
100 %
LHX3 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

LHX3
Specificity
100 %
Genes
100 %
LHX3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LHX3
Specificity
100 %
Genes
100 %
Pituitary hormone deficiency, combined, 3 (sequence analysis of LHX3 gene).

By CGC Genetics in Portugal.

LHX3
Specificity
100 %
Genes
100 %
Congenital hypopituitarism (NGS panel for 7 genes).

By CGC Genetics in Portugal.

OTX2, HESX1, PROP1, POU1F1, SOX3, LHX4, LHX3
Specificity
15 %
Genes
100 %
Septooptic dysplasia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PAX6, OTX2, SOX2, HESX1, FGFR2, PROP1, SLC12A6, FGF8, ANOS1, POU1F1, GH1, SOX3, GLI2, LHX4, LHX3, EPG5, TAX1BP3
Specificity
6 %
Genes
100 %
Septooptic dysplasia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PAX6, OTX2, SOX2, HESX1, FGFR2, PROP1, SLC12A6, FGF8, ANOS1, POU1F1, GH1, SOX3, GLI2, LHX4, LHX3, EPG5, TAX1BP3
Specificity
6 %
Genes
100 %
Congenital hypopituitarism (NGS panel for 7 genes).

By CGC Genetics in Portugal.

OTX2, HESX1, PROP1, POU1F1, SOX3, LHX4, LHX3
Specificity
15 %
Genes
100 %
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

OTX2, SOX2, HESX1, PROP1, POU1F1, SOX3, GLI2, LHX4, LHX3
Specificity
12 %
Genes
100 %
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SOX2, HESX1, CHD7, LEP, LEPR, PCSK1, PROP1, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SOX10, SEMA3E, SOX3 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Short stature with endocrinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

OTX2, HESX1, PROP1, BTK, GHRHR, POU1F1, GH1, GHR, SOX3, LHX4, LHX3, IGF1, IGF1R, GHSR
Specificity
8 %
Genes
100 %
Short stature with endocrinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

OTX2, HESX1, PROP1, BTK, GHRHR, POU1F1, GH1, GHR, SOX3, LHX4, LHX3, IGF1, IGF1R, GHSR
Specificity
8 %
Genes
100 %
Short stature with endocrinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

OTX2, HESX1, PROP1, BTK, GHRHR, POU1F1, GH1, GHR, SOX3, LHX4, LHX3, IGF1, IGF1R, GHSR
Specificity
8 %
Genes
100 %
LHX3-Related Combined Pituitary Hormone Deficiency.

By Bioscientia GmbH Center for Human Genetics in Germany.

LHX3
Specificity
100 %
Genes
100 %
Pituitary hormone deficiency, combined type III.

By Centogene AG - the Rare Disease Company in Germany.

LHX3
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Single gene testing LHX3.

By CeGaT GmbH in Germany.

LHX3
Specificity
100 %
Genes
100 %
Combined Pituitary Hormone Deficiency.

By Asper Biogene Asper Biogene LLC in Estonia.

OTX2, HESX1, PROP1, GHRHR, POU1F1, GH1, LHX4, LHX3
Specificity
13 %
Genes
100 %
Septooptic dysplasia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PAX6, OTX2, SOX2, HESX1, FGF8, SOX3, GLI2, LHX4, LHX3
Specificity
12 %
Genes
100 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PITX2, RAF1, SOX2, HESX1, BLM, CREBBP, DHCR7, KRAS, PTPN11, SOS1, SMC3, SMC1A, NIPBL, NBN, PROP1, BTK, GHRHR, SHOX, POU1F1, GH1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Hearing Loss NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
LHX3.

By Fulgent Genetics Fulgent Genetics in United States.

LHX3
Specificity
100 %
Genes
100 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Pituitary hormone deficiency, combined, 3.

By Bioarray in Spain.

LHX3
Specificity
100 %
Genes
100 %
Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

OTX2, HESX1, PROP1, BTK, GHRHR, POU1F1, GH1, LHX4, LHX3, GHSR
Specificity
10 %
Genes
100 %
Combined Pituitary Hormone Deficiency NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

OTX2, HESX1, PROP1, POU1F1, LHX4, LHX3
Specificity
17 %
Genes
100 %
LHX3 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

LHX3
Specificity
100 %
Genes
100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
100 %
COMBINED PITUITARY HORMONE DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

OTX2, CYP11B1, HESX1, PROP1, POU1F1, LHX4, LHX3
Specificity
15 %
Genes
100 %
Combined Pituitary Hormone Deficiency Type 3 , Sequencing LHX3 Gene.

By Reference Laboratory Genetics in Spain.

LHX3
Specificity
100 %
Genes
100 %
Combined Pituitary Hormone Deficiency , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

OTX2, HESX1, PROP1, POU1F1, LHX4, LHX3
Specificity
17 %
Genes
100 %
Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

PAX6, OTX2, SOX2, HESX1, FGF8, SOX3, GLI2, LHX4, LHX3
Specificity
12 %
Genes
100 %

Alternate names

Pituitary Hormone Deficiency, Combined, 3; Cphd3 Is also known as pituitary hormone deficiency, combined, with rigid cervical spine, deafness, sensorineural, with pituitary dwarfism;non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome.


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