IH
MCID: HMH004
MIFTS: 41

Hemihyperplasia, Isolated (IH)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Hemihyperplasia, Isolated

MalaCards integrated aliases for Hemihyperplasia, Isolated:

Name: Hemihyperplasia, Isolated 57 13 71
Hemihypertrophy 57 20 29 54 6
Isolated Hemihyperplasia 58 29
Hemihyperplasia 57 20
Hemihypertrophy, Isolated 57
Hemicorporal Hypertrophy 58
Isolated Hemihypertrophy 58
Hemihyperplasia; Hhp 57
Hemi 3 Syndrome 58
Hemi-3 Syndrome 71
Hhp 57
Ih 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance
present at birth
prevalence estimated at 1 in 86,000
may be due to imprinting defect
see also facial hemihypertrophy

Inheritance:
autosomal dominant


HPO:

31
hemihyperplasia, isolated:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 235000
ICD10 via Orphanet 33 Q87.3
UMLS via Orphanet 72 C0332890 C1856184
Orphanet 58 ORPHA2128
MedGen 41 C1856184
UMLS 71 C1856184 C1856185

Summaries for Hemihyperplasia, Isolated

OMIM® : 57 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 (194070) (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 (133900). Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome (BWS; 130650), neurofibromatosis (NF1; 162200), Proteus syndrome (176920), and Klippel-Trenaunay-Weber syndrome (149000) (Shuman et al., 2006). (235000) (Updated 05-Mar-2021)

MalaCards based summary : Hemihyperplasia, Isolated, also known as hemihypertrophy, is related to wilms tumor 1 and hepatoblastoma. An important gene associated with Hemihyperplasia, Isolated is H19 (H19 Imprinted Maternally Expressed Transcript), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Endochondral Ossification. Affiliated tissues include kidney, heart and bone, and related phenotypes are scoliosis and hemihypertrophy

GARD : 20 Hemihypertrophy is a condition in which there is excessive (hyper) growth (trophy) of only one side (hemi) of the body, the right side or the left side. Overgrowth may affect only one part of the body, such as a leg or arm, or several different areas of the body. It may not be apparent at birth, but becomes most noticeable as the child grows. Hemihypertrophy can be isolated or may be part of a genetic syndrome, like Beckwith-Wiedemann syndrome. In most cases, the cause of isolated hemihypertrophy is unknown. In cases where the condition is part of a genetic syndrome, the cause depends on the specific syndrome. Treatment may include surgery to correct the differences in the affected body part(s).

Wikipedia : 74 Hemihypertrophy, now more commonly referred to as hemihyperplasia in the medical literature, is a... more...

Related Diseases for Hemihyperplasia, Isolated

Diseases related to Hemihyperplasia, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 241)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 30.4 WT1 KCNQ1OT1 IGF2 H19 CDKN1C
2 hepatoblastoma 30.0 IGF2 H19 CDKN1C
3 beckwith-wiedemann syndrome 30.0 WT1 SMPD1 KCNQ1OT1 IGF2 H19 CDKN1C
4 adrenal cortical carcinoma 29.8 IGF2 H19 CDKN1C
5 nephroma 29.6 WT1 IGF2
6 congenital mesoblastic nephroma 29.6 WT1 IGF2
7 adrenal cortical adenoma 29.6 IGF2 CDKN1C
8 leiomyosarcoma 29.5 WT1 IGF2
9 omphalocele 29.4 KCNQ1OT1 IGF2 CDKN1C
10 adrenal carcinoma 29.4 IGF2 CDKN1C
11 adrenal adenoma 29.4 IGF2 CDKN1C
12 rhabdomyosarcoma 29.2 WT1 IGF2 H19 CDKN1C
13 silver-russell syndrome 1 29.1 KCNQ1OT1 IGF2 H19 CDKN1C
14 umbilical hernia 28.9 KCNQ1OT1 IGF2 H19 CDKN1C
15 hypoinsulinemic hypoglycemia with hemihypertrophy 11.6
16 hemihyperplasia-multiple lipomatosis syndrome 11.3
17 hemi 3 syndrome 11.1
18 hemifacial hyperplasia 10.9
19 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
20 pik3ca-related overgrowth spectrum 10.9
21 overgrowth syndrome 10.4
22 lipomatosis 10.2
23 hemimegalencephaly 10.2
24 silver-russell syndrome due to 11p15 microduplication 10.2 IGF2 H19
25 silver-russell syndrome due to an imprinting defect of 11p15 10.2 IGF2 H19
26 proteus syndrome 10.1
27 nevus, epidermal 10.1
28 fetal macrosomia 10.1 IGF2 H19
29 adrenocortical carcinoma, hereditary 10.1
30 hypoglycemia 10.1
31 mayer-rokitansky-kuster-hauser syndrome 10.1 WT1 H19
32 aniridia 1 10.1
33 hyperinsulinism 10.1
34 adrenal cortical adenocarcinoma 10.1
35 temple syndrome 10.0 KCNQ1OT1 IGF2
36 klippel-trenaunay-weber syndrome 10.0
37 paternal uniparental disomy 10.0
38 arteriovenous malformation 10.0
39 hypertrichosis 10.0
40 silver-russell syndrome due to a point mutation 10.0 IGF2 CDKN1C
41 gestational trophoblastic neoplasm 10.0 H19 CDKN1C
42 trophoblastic neoplasm 10.0 H19 CDKN1C
43 clear cell sarcoma 10.0 WT1 IGF2
44 hydatidiform mole, recurrent, 1 10.0 H19 CDKN1C
45 skeletal muscle cancer 10.0 WT1 IGF2
46 cryptorchidism, unilateral or bilateral 10.0
47 polydactyly 10.0
48 nephrocalcinosis 10.0
49 lymphangiectasis 10.0
50 precocious puberty 10.0

Graphical network of the top 20 diseases related to Hemihyperplasia, Isolated:



Diseases related to Hemihyperplasia, Isolated

Symptoms & Phenotypes for Hemihyperplasia, Isolated

Human phenotypes related to Hemihyperplasia, Isolated:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 hemihypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001528
3 asymmetry of the thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0001555
4 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
5 intellectual disability, mild 58 31 very rare (1%) Frequent (79-30%) HP:0001256
6 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
7 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
8 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
9 impaired pain sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007328
10 nephroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002667
11 myelomeningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002475
12 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
13 malformation of the heart and great vessels 58 Occasional (29-5%)
14 skeletal muscle hypertrophy 31 HP:0003712
15 embryonal neoplasm 31 HP:0002898

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
myelomeningocele

Chest External Features:
asymmetry of the chest

Genitourinary Kidneys:
wilms tumor, increased risk of

Skeletal Hands:
hemihyperplasia of hands

Muscle Soft Tissue:
muscle hypertrophy in affected area

Neoplasia:
increased risk for embryonal tumors
increased risk for wilms tumor

Growth Other:
asymmetric growth involving 1 or more body parts, isolated

Chest Breasts:
displaced nipples due to chest asymmetry

Skeletal Limbs:
hemihyperplasia of limbs

Skeletal Feet:
hemihyperplasia of feet

Neurologic Central Nervous System:
mental retardation, mild to moderate (20% of patients)

Clinical features from OMIM®:

235000 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Hemihyperplasia, Isolated according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-106 9.36 SMPD1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.36 IGF2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.36 IGF2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.36 SMPD1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.36 IGF2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-67 9.36 IGF2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.36 IGF2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.36 SMPD1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.36 IGF2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.36 SMPD1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.36 IGF2

Drugs & Therapeutics for Hemihyperplasia, Isolated

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies Active, not recruiting NCT00503893

Search NIH Clinical Center for Hemihyperplasia, Isolated

Genetic Tests for Hemihyperplasia, Isolated

Genetic tests related to Hemihyperplasia, Isolated:

# Genetic test Affiliating Genes
1 Hemihypertrophy 29
2 Isolated Hemihyperplasia 29

Anatomical Context for Hemihyperplasia, Isolated

MalaCards organs/tissues related to Hemihyperplasia, Isolated:

40
Kidney, Heart, Bone, Liver, Skin, Skeletal Muscle, Brain

Publications for Hemihyperplasia, Isolated

Articles related to Hemihyperplasia, Isolated:

(show top 50) (show all 652)
# Title Authors PMID Year
1
Children with idiopathic hemihypertrophy and beckwith-wiedemann syndrome have different constitutional epigenotypes associated with wilms tumor. 57 61
16252245 2005
2
A case of familial isolated hemihyperplasia. 57 61
15040809 2004
3
Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy. 57 61
12624145 2003
4
Congenital hemihypertrophy and pheochromocytoma, not a coincidental combination? 57 61
11998914 2002
5
Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. 57 61
9781907 1998
6
Twelve cases with hemihypertrophy: etiology and follow up. 57 61
8357562 1993
7
Manifestations and natural history of idiopathic hemihypertrophy: a review of eleven cases. 57 61
6467671 1984
8
The hemi 3 syndrome. Hemihypertrophy, hemihypaesthesia, hemiareflexia and scoliosis. 61 57
6722516 1984
9
Wilms's tumor in three children of a woman with congenital hemihypertrophy. 57 61
4364969 1974
10
Wilms' tumor and congenital hemihypertrophy: report of five new cases and review of literature. 57 61
4294698 1967
11
Mental defect and hemihypertrophy. 61 57
14376433 1955
12
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. 57
16770802 2006
13
LIT1 and H19 methylation defects in isolated hemihyperplasia. 57
15651076 2005
14
Non-syndromic hemihyperplasia in a male and his mother. 57
12900901 2003
15
Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia. 57
9781913 1998
16
WT1 expression and hemihypertrophy in congenital mesoblastic nephroma. 61 54
19011477 2008
17
Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome. 61 54
17638616 2007
18
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. 61 54
16532391 2006
19
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. 54 61
15999116 2005
20
Growth regulation, acid sphingomyelinase gene and genomic imprinting: lessons from an experiment of nature. 54 61
11310411 2000
21
Perioperative anesthetic management of reductive glossoplasty in a patient with Beckwith-Wiedemann syndrome. 61
32417109 2021
22
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. 61
32973342 2021
23
Late Presentation of Wilms Tumor in a Patient with Hemihypertrophy after Normal Screening. 61
33581236 2021
24
Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care. 61
33221597 2021
25
Facial hemihypertrophy in a girl with sturge-weber syndrome: Treatment with oral sirolimus. 61
33511637 2021
26
Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature. 61
33492467 2021
27
Maxillofacial manifestations of Proteus syndrome: a systematic review with a case report. 61
31734933 2021
28
Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation. 61
32770747 2020
29
Phenotypes and epigenetic errors in patients with Beckwith-Wiedemann syndrome in China. 61
33209728 2020
30
Which Acetabular Landmarks are the Most Useful for Measuring the Acetabular Index and Center-edge Angle in Developmental Dysplasia of the Hip? A Comparison of Two Methods. 61
32379138 2020
31
Results of Treatment for Patients With Multicentric or Bilaterally Predisposed Unilateral Wilms Tumor (AREN0534): A report from the Children's Oncology Group. 61
32459384 2020
32
Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas. 61
32170967 2020
33
Hemihypertrophy With Multiple Facial and Cranial Osteomas Causing External Auditory Canal Obliteration. 61
32282783 2020
34
PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth. 61
31481664 2020
35
Percutaneous femoral shortening over a nail using on-site smashing osteotomy technique. 61
31542823 2020
36
High-grade neuroepithelial tumor with medulloepithelioma-like areas out of the central nervous system in an infant with hemihypertrophy: a unique association. 61
33108088 2020
37
Partial Nephrectomy for Multifocal, Unilateral Wilms Tumor in a Patient with Hemihypertrophy. 61
31404584 2019
38
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. 61
31352912 2019
39
Scope of hearing loss in Beckwith-Wiedemann syndrome and hemihypertrophy. 61
31339626 2019
40
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype. 61
31373173 2019
41
Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome. 61
30784096 2019
42
Penile prosthesis implant for primary erectile dysfunction in patient with Klippel-Trenaunay syndrome complicated by consumptive coagulopathy: A case report. 61
31393387 2019
43
PHACES syndrome with ectopia cordis and hemihypertrophy. 61
31191138 2019
44
Tuberous Sclerosis Complex Associated with Hemihypertrophy and Combined Vascular Malformations. 61
30244874 2019
45
Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome. 61
30472817 2019
46
Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report. 61
30762792 2019
47
Screening Procedure for Hemihypertrophy: Preliminary Results of International Multicenter Prospective Study. 61
31321153 2019
48
Hemihyperplasia/hemihypertrophy in adolescents: prospective international study. 61
30645194 2019
49
A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS). 61
30864369 2018
50
Clinical features, treatment, and outcomes of bilateral Wilms' tumor: A systematic review and meta-analysis. 61
30274708 2018

Variations for Hemihyperplasia, Isolated

ClinVar genetic disease variations for Hemihyperplasia, Isolated:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF1B NM_015074.3(KIF1B):c.1977+6205C>T SNV Uncertain significance 279823 rs771399291 1:10363509-10363509 1:10303451-10303451
2 SH3TC2 NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) SNV Uncertain significance 2485 rs80359890 5:148422281-148422281 5:149042718-149042718

Expression for Hemihyperplasia, Isolated

Search GEO for disease gene expression data for Hemihyperplasia, Isolated.

Pathways for Hemihyperplasia, Isolated

Pathways related to Hemihyperplasia, Isolated according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.82 WT1 CDKN1C
2 10.44 IGF2 CDKN1C

GO Terms for Hemihyperplasia, Isolated

Sources for Hemihyperplasia, Isolated

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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