Hemihyperplasia, Isolated; Ih

Description

Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term 'hemihyperplasia' has replaced the term 'hemihypertrophy' to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor (OMIM ) (Shuman et al., 2006).Hoyme et al. (1998) provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia (OMIM ).Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome (BWS ), neurofibromatosis (NF1 ), Proteus syndrome (OMIM ), and Klippel-Trenaunay-Weber syndrome (OMIM ) (Shuman et al., 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Hemihyperplasia, Isolated; Ih

  • Scoliosis
  • Cryptorchidism
  • Neoplasm
  • Intellectual disability, mild
  • Abnormality of the dentition
  • Abnormality of cardiovascular system morphology
  • Inguinal hernia
  • Carcinoma
  • Facial asymmetry
  • Overgrowth
And another 11 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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Hemihyperplasia, Isolated; Ih Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Chromosome 11-related Beckwith-Wiedemann Syndrome.

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

H19, KCNQ1OT1
Specificity
100 %
Genes
50 %
Chromosome 11-Related Russell-Silver Syndrome.

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

KCNQ1OT1
Specificity
100 %
Genes
25 %
Test for Beckwith-Wiedemann Syndrome.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CDKN1C, H19, KCNQ1OT1
Specificity
67 %
Genes
50 %
Beckwith-Wiedemann Syndrome (methylation test).

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

H19, KCNQ1OT1
Specificity
100 %
Genes
50 %
Isolated hemihyperplasia (methylation analysis of KCNQ1OT1 and H19 genes).

By CGC Genetics in Portugal.

H19, KCNQ1OT1
Specificity
100 %
Genes
50 %
Beckwith-Wiedemann syndrome.

By Centogene AG - the Rare Disease Company in Germany.

KCNQ1OT1
Specificity
100 %
Genes
25 %
Beckwith-Wiedemann syndrome.

By Praxis fuer Humangenetik Wien in Austria.

KCNQ1OT1
Specificity
100 %
Genes
25 %
Beckwith-Wiedemann syndrome.

By MedGene in Slovakia.

KCNQ1OT1
Specificity
100 %
Genes
25 %
Beckwith-Wiedemann syndrome.

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

CDKN1C, H19, KCNQ1OT1
Specificity
67 %
Genes
50 %
Russell-Silver syndrome: Methylation detection and deletions-duplications analysis (MLPA) (KvDMR / H19DMR domains).

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

CDKN1C, KCNQ1, H19, KCNQ1OT1, IGF2
Specificity
60 %
Genes
75 %
Beckwith-Wiedemann Syndrome Panel: H19 and LIT1 Methylation Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

H19, KCNQ1OT1
Specificity
100 %
Genes
50 %
Beckwith-Wiedemann Syndrome: LIT1 Methylation.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

KCNQ1OT1
Specificity
100 %
Genes
25 %
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
2 %
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
2 %
Genes
50 %
BECKWITH-WIEDEMANN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CDKN1C, H19, KCNQ1OT1
Specificity
67 %
Genes
50 %
Beckwith-Wiedemann Syndrome, Deletions-Duplications (MLPA) KCNQ1OT1 Gene.

By Reference Laboratory Genetics in Spain.

KCNQ1OT1
Specificity
100 %
Genes
25 %
Beckwith-Wiedemann Syndrome , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

NSD1, CDKN1C, H19, KCNQ1OT1
Specificity
50 %
Genes
50 %
Silver-Russell syndrome.

By Centogene AG - the Rare Disease Company in Germany.

IGF2
Specificity
100 %
Genes
25 %
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
25 %
IGF2.

By Fulgent Genetics Fulgent Genetics in United States.

IGF2
Specificity
100 %
Genes
25 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
25 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
25 %
Test for Chromosome 11p15.5-Related Russell-Silver Syndrome.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

H19
Specificity
100 %
Genes
25 %
Beckwith-Wiedemann Syndrome.

By Genetics Laboratory Shodair Children's Hospital in United States.

KCNQ1, H19
Specificity
50 %
Genes
25 %
Russell-Silver Syndrome.

By Genetics Laboratory Shodair Children's Hospital in United States.

H19
Specificity
100 %
Genes
25 %
Silver-Russel Syndrome (11p15).

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

H19
Specificity
100 %
Genes
25 %
Beckwith-Wiedemann syndrome.

By Centogene AG - the Rare Disease Company in Germany.

H19
Specificity
100 %
Genes
25 %
Russell-Silver Syndrome: H19 Methylation and UPD7.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

H19
Specificity
100 %
Genes
25 %
Russell-Silver Syndrome: H19 Methylation.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

H19
Specificity
100 %
Genes
25 %
Beckwith-Wiedemann Syndrome: H19 Methylation.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

H19
Specificity
100 %
Genes
25 %
H19.

By Fulgent Genetics Fulgent Genetics in United States.

H19
Specificity
100 %
Genes
25 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
25 %

Alternate names

Hemihyperplasia, Isolated; Ih Is also known as hemihyperplasia;hhp, hemihypertrophy, isolated;hemi 3 syndrome; hemicorporal hypertrophy; isolated hemihypertrophy.



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