Septooptic Dysplasia

Description

Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

Clinical Features

Top most frequent phenotypes and symptoms related to Septooptic Dysplasia

  • Seizures
  • Global developmental delay
  • Short stature
  • Motor delay
  • Cryptorchidism
  • Milia
  • Visual impairment
  • Fever
  • Talipes equinovarus
  • Syndactyly
And another 30 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.


Mendelian

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Septooptic Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
50 %
Septooptic Dysplasia.

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

HESX1
Specificity
100 %
Genes
50 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Septo-Optic Dysplasia and Schizencephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

SHH, SOX2, HESX1, COL4A1, EMX2, SIX3
Specificity
17 %
Genes
50 %
HESX1 Gene Sequencing.

By GeneDx in United States.

HESX1
Specificity
100 %
Genes
50 %
HESX1 mutation analysis.

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

HESX1
Specificity
100 %
Genes
50 %
HESX1. Complete sequencing.

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

HESX1
Specificity
100 %
Genes
50 %
Pituitary hormone deficiency, combined 5 (sequence analysis of HESX1 gene).

By CGC Genetics in Portugal.

HESX1
Specificity
100 %
Genes
50 %
Septooptic dysplasia (sequence analysis of HESX1 gene).

By CGC Genetics in Portugal.

HESX1
Specificity
100 %
Genes
50 %
Congenital hypopituitarism (NGS panel for 7 genes).

By CGC Genetics in Portugal.

OTX2, HESX1, PROP1, POU1F1, SOX3, LHX4, LHX3
Specificity
15 %
Genes
50 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics in Portugal.

HESX1, CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, IL17RD, SEMA3A, NSMF, FEZF1, LHB, FSHB, FGF17, WDR11 , (...)

View the complete list with 6 more genes
Specificity
8 %
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
12 %
Genes
100 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics in Portugal.

HESX1, CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, IL17RD, SEMA3A, NSMF, FEZF1, LHB, FSHB, FGF17, WDR11 , (...)

View the complete list with 6 more genes
Specificity
8 %
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
12 %
Genes
100 %
Congenital hypopituitarism (NGS panel for 7 genes).

By CGC Genetics in Portugal.

OTX2, HESX1, PROP1, POU1F1, SOX3, LHX4, LHX3
Specificity
15 %
Genes
50 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
HESX1-Related Disorders via HESX1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HESX1
Specificity
100 %
Genes
50 %
Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6, OTX2, SOX2, HESX1, PROP1
Specificity
20 %
Genes
50 %
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
50 %
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
6 %
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
2 %
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
2 %
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
2 %
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
50 %
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
50 %
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
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
50 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

FOXL2, RAX, ABCB6, OCRL, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, RAB3GAP1, SIX3, VPS13B , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Septooptic dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

HESX1
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
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
50 %
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
50 %
HESX1.

By Amplexa Genetics Amplexa Genetics A/S in Denmark.

HESX1
Specificity
100 %
Genes
50 %
Septo-optical dysplasia Panel.

By CeGaT GmbH in Germany.

OTX2, SOX2, HESX1, FGFR2, PROKR2, SOX3, TAX1BP3
Specificity
15 %
Genes
50 %
Single gene testing HESX1.

By CeGaT GmbH in Germany.

HESX1
Specificity
100 %
Genes
50 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC in Estonia.

RAX, EYA1, VSX1, PAX6, ABCB6, FOXC1, PITX2, MFRP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, CHD7, COL4A1, GDF6, FOXE3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Combined Pituitary Hormone Deficiency.

By Asper Biogene Asper Biogene LLC in Estonia.

OTX2, HESX1, PROP1, GHRHR, POU1F1, GH1, LHX4, LHX3
Specificity
13 %
Genes
50 %
Hypothyroidism and Thyroid Hormone Resistance.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

RAX, PAX6, PITX3, ABCB6, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, CRX, STRA6, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, FKTN , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Septo-optic dysplasia.

By Molecular Vision Laboratory in United States.

PAX6, OTX2, SOX2, HESX1
Specificity
25 %
Genes
50 %
Pituary hormone deficiency.

By Praxis fuer Humangenetik Wien in Austria.

HESX1
Specificity
100 %
Genes
50 %
Septooptic Dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

HESX1
Specificity
100 %
Genes
50 %
Pituary hormone deficiency.

By MedGene in Slovakia.

HESX1
Specificity
100 %
Genes
50 %
Septooptic Dysplasia.

By MedGene in Slovakia.

HESX1
Specificity
100 %
Genes
50 %
Morsier syndrome: HESX1 gene sequence analysis.

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

HESX1
Specificity
100 %
Genes
50 %
Combined pituitary hormone deficiency (CPHD): HESX1 gene sequence analysis.

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

HESX1
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
Septo-optic Dysplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PAX6, OTX2, SOX2, HESX1, PROP1
Specificity
20 %
Genes
50 %
HESX1.

By Fulgent Genetics Fulgent Genetics in United States.

HESX1
Specificity
100 %
Genes
50 %
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
50 %
Neuro-Ophthalmology Panel.

By Blueprint Genetics in Finland.

TWNK, C12orf65, PAX6, TUBB3, GPR143, OPA1, WFS1, OTX2, POLG, SLC25A4, RRM2B, MFN2, OPA3, ACO2, TMEM126A, TK2, SPG7, CISD2, TYMP, PHOX2A , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Septo-Optic Dysplasia Panel.

By Blueprint Genetics in Finland.

PAX6, OTX2, SOX2, HESX1
Specificity
25 %
Genes
50 %
Hypothyroidism and Resistance to Thyroid Hormone Panel.

By Blueprint Genetics in Finland.

SLC26A4, SECISBP2, HESX1, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

FOXL2, RAX, PAX6, ABCB6, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
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
50 %
Septo-optic dysplasia.

By Bioarray in Spain.

HESX1
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
Short Stature, autosomal recessive, NGS and Deletion/Duplication Panel.

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

HESX1, PROP1, GHRHR, POU1F1, GH1, GHR, LHX4, GHSR
Specificity
13 %
Genes
50 %
HESX1 Gene Sequencing and Deletion/Duplication analysis.

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

HESX1
Specificity
100 %
Genes
50 %
COMBINED PITUITARY HORMONE DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

OTX2, CYP11B1, HESX1, PROP1, POU1F1, LHX4, LHX3
Specificity
15 %
Genes
50 %
SEPTO-OPTIC DYSPLASIA (MORSIER SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

HESX1
Specificity
100 %
Genes
50 %
Septo-Optic Dysplasia , Sequencing HESX1 Gene.

By Reference Laboratory Genetics in Spain.

HESX1
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
Anosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc in United States.

FGFR1, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1
Specificity
15 %
Genes
50 %
KAL1 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

ANOS1
Specificity
100 %
Genes
50 %
Complete Kallmann/IHH Evaluation.

By Athena Diagnostics Inc in United States.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1
Specificity
10 %
Genes
50 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, PTPN11, SRY, CDKN1C, FIG4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
50 %
Hypogonadotropic Hypogonadism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, IL17RD, NSMF, FEZF1, LHB, FSHB, FGF17, WDR11, TAC3
Specificity
6 %
Genes
50 %
Kallmann Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, PROKR2, PROK2, FGF8, ANOS1, IL17RD, NSMF, FEZF1, LHB, FGF17, WDR11, TAC3, KISS1
Specificity
6 %
Genes
50 %
Hypogonadotropic Hypogonadism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, IL17RD, NSMF, FEZF1, LHB, FSHB, FGF17, WDR11, TAC3
Specificity
6 %
Genes
50 %
Kallmann syndrome.

By Cytogenetics Laboratory Indiana University School of Medicine in United States.

ANOS1
Specificity
100 %
Genes
50 %
KAL1 Gene Sequencing.

By GeneDx in United States.

ANOS1
Specificity
100 %
Genes
50 %
KAL1. Complete sequencing.

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

ANOS1
Specificity
100 %
Genes
50 %
KAL1. MLPA testing.

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

ANOS1
Specificity
100 %
Genes
50 %
Kallmann syndrome (deletion/duplication analysis of KAL1 gene).

By CGC Genetics in Portugal.

ANOS1
Specificity
100 %
Genes
50 %
Kallmann syndrome (sequence analysis of ANOS1/KAL1 gene).

By CGC Genetics in Portugal.

ANOS1
Specificity
100 %
Genes
50 %
CHARGE and Kallmann Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD7, ANOS1, SEMA3E
Specificity
34 %
Genes
50 %
Kallmann Syndrome via the KAL1(ANOS1) Gene.

By PreventionGenetics PreventionGenetics in United States.

ANOS1
Specificity
100 %
Genes
50 %
Kallmann Syndrome (KS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD7, FGFR1, TACR3, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SOX10, IL17RD
Specificity
10 %
Genes
50 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
50 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
50 %
Kallmann Syndrome 1.

By Bioscientia GmbH Center for Human Genetics in Germany.

ANOS1
Specificity
100 %
Genes
50 %
Kallmann syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

ANOS1
Specificity
100 %
Genes
50 %
Kallmann syndrome.

By Centogene AG - the Rare Disease Company in Germany.

ANOS1
Specificity
100 %
Genes
50 %
Kallmann syndrome.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

CHD7, FGFR1, PROKR2, PROK2, FGF8, ANOS1
Specificity
17 %
Genes
50 %
Kallmann syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

ANOS1
Specificity
100 %
Genes
50 %
KAL1 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

ANOS1
Specificity
100 %
Genes
50 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
50 %
Kallmann syndrome 1.

By MedGene in Slovakia.

ANOS1
Specificity
100 %
Genes
50 %
Invitae Isolated Gonadotropin-Releasing Hormone Deficiency Panel.

By Invitae in United States.

CHD7, FGFR1, ANOS1
Specificity
34 %
Genes
50 %
Kallmann syndrome type 1: KAL1 gene sequence analysis.

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

ANOS1
Specificity
100 %
Genes
50 %
Kallmann type 1, syndrome: KAL1 gene deletions-duplications analysis (MLPA).

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

ANOS1
Specificity
100 %
Genes
50 %
KALLMANN SYNDROME AND RELATED DISORDERS.

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

CHD7, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SEMA3A, NSMF, WDR11, TAC3, KISS1, HS6ST1
Specificity
7 %
Genes
50 %
Kallmann Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, FGF8, ANOS1, SEMA3A, NSMF, TAC3, KISS1
Specificity
8 %
Genes
50 %
Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, FGF8, ANOS1, NSMF, TAC3, KISS1
Specificity
8 %
Genes
50 %
ANOS1.

By Fulgent Genetics Fulgent Genetics in United States.

ANOS1
Specificity
100 %
Genes
50 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
50 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
50 %
Kallmann Syndrome Panel.

By Blueprint Genetics in Finland.

CHD7, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1
Specificity
12 %
Genes
50 %
Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics in Finland.

STAR, WT1, CYP11B1, HSD3B2, CYP11A1, BCOR, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, SRY, CDKN1C, FIG4, NR0B1, FGFR1, LHCGR, TACR3 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Kallman syndrome, type 1.

By Bioarray in Spain.

ANOS1
Specificity
100 %
Genes
50 %
Kallmann Syndrome NGS and Deletion/Duplication Panel.

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

CHD7, FGFR1, GNRHR, PROKR2, PROK2, FGF8, ANOS1
Specificity
15 %
Genes
50 %
ANOS1 Gene Sequencing and Deletion/Duplication Analysis.

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

ANOS1
Specificity
100 %
Genes
50 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
KALLMANN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CHD7, FGFR1, PROKR2, PROK2, FGF8, ANOS1
Specificity
17 %
Genes
50 %
KALLLMAN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM).

By Laboratorio de Genetica Clinica SL in Spain.

CHD7, FGFR1, PROKR2, FGF8, ANOS1
Specificity
20 %
Genes
50 %
Kallmann syndrome/gonadotropin-releasing hormone deficiency panel.

By LifeLabs Genetics in Canada.

ANOS1
Specificity
100 %
Genes
50 %
Kallmann Syndrome Type 1, Sequencing ANOS1 (KAL1) Gene.

By Reference Laboratory Genetics in Spain.

ANOS1
Specificity
100 %
Genes
50 %
Kallmann Syndrome Type 1, Deletions-Duplications (MLPA) KAL1 Gene.

By Reference Laboratory Genetics in Spain.

ANOS1
Specificity
100 %
Genes
50 %
Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SEMA3A, NSMF, LHB, FSHB, WDR11, TAC3, KISS1, POLR3B, HS6ST1
Specificity
5 %
Genes
50 %
Kallmann syndrome.

By Labor Dr. Wisplinghoff in Germany.

FGFR1, PROKR2, PROK2, ANOS1
Specificity
25 %
Genes
50 %
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CHD7, FGFR1, TACR3, GNRHR, PROKR2, ANOS1, SOX10, IL17RD
Specificity
13 %
Genes
50 %
Nonsyndromic disorders of sexual development: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

STAR, HSD3B2, CYP11A1, CYP17A1, AR, LHCGR, ANOS1, POR, HSD17B3, SRD5A2, AKR1C2, CBX2
Specificity
9 %
Genes
50 %

Alternate names

Septooptic Dysplasia Is also known as de morsier syndrome.



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