IH
MCID: HMH004
MIFTS: 45

Hemihyperplasia, Isolated (IH)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Hemihyperplasia, Isolated

MalaCards integrated aliases for Hemihyperplasia, Isolated:

Name: Hemihyperplasia, Isolated 56 13 71
Hemihypertrophy 56 52 29 54 6
Isolated Hemihyperplasia 58 29
Hemihyperplasia 56 52
Hemihypertrophy, Isolated 56
Hemicorporal Hypertrophy 58
Isolated Hemihypertrophy 58
Hemihyperplasia; Hhp 56
Hemi 3 Syndrome 58
Hemi-3 Syndrome 71
Hhp 56
Ih 56

Characteristics:

OMIM:

56
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 56 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 : 56 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)

MalaCards based summary : Hemihyperplasia, Isolated, also known as hemihypertrophy, is related to wilms tumor 1 and adrenocortical carcinoma, hereditary. 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. The drugs Vincristine and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and bone, and related phenotypes are scoliosis and hemihypertrophy

NIH Rare Diseases : 52 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 356)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 30.8 WT1 KCNQ1OT1 IGF2 H19 CDKN1C
2 adrenocortical carcinoma, hereditary 30.5 IGF2 H19
3 beckwith-wiedemann syndrome 30.2 WT1 SMPD1 KCNQ1OT1 IGF2 H19 CDKN1C
4 adrenal cortical carcinoma 30.1 IGF2 CDKN1C
5 hepatoblastoma 30.1 IGF2 H19 CDKN1C
6 embryonal rhabdomyosarcoma 30.0 IGF2 H19
7 adrenal cortical adenoma 29.9 IGF2 CDKN1C
8 nephroma 29.8 WT1 IGF2
9 renal hypodysplasia/aplasia 1 29.8 WT1 IGF2
10 congenital mesoblastic nephroma 29.8 WT1 IGF2
11 wilms tumor 5 29.7 WT1 IGF2 H19 CDKN1C
12 rhabdomyosarcoma 29.7 WT1 IGF2 H19
13 leiomyosarcoma 29.6 WT1 IGF2
14 adrenal carcinoma 29.6 IGF2 CDKN1C
15 adrenal adenoma 29.5 IGF2 CDKN1C
16 omphalocele 29.4 KCNQ1OT1 IGF2 CDKN1C
17 silver-russell syndrome 1 29.1 KCNQ1OT1 IGF2 H19 CDKN1C
18 umbilical hernia 28.8 KCNQ1OT1 IGF2 H19 CDKN1C
19 hypoinsulinemic hypoglycemia with hemihypertrophy 12.8
20 congenital disorder of glycosylation, type ih 12.6
21 hemihyperplasia-multiple lipomatosis syndrome 12.6
22 amelogenesis imperfecta, type ih 12.6
23 hurler syndrome 12.4
24 hurler-scheie syndrome 12.4
25 usher syndrome, type ih 12.3
26 scheie syndrome 11.7
27 idiopathic hypersomnia 11.6
28 persistent idiopathic facial pain 11.5
29 heart disease 11.5
30 hemi 3 syndrome 11.4
31 ichthyosis, congenital, autosomal recessive 11 11.4
32 pericarditis 11.3
33 capillary hemangioma 11.3
34 usher syndrome, type id 11.2
35 hemifacial hyperplasia 11.2
36 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2
37 pik3ca-related overgrowth spectrum 11.2
38 macular dystrophy, corneal 11.2
39 intracranial hypertension, idiopathic 11.2
40 hemangioma, capillary infantile 11.2
41 intermittent hydrarthrosis 11.2
42 headache 10.8
43 migraine with or without aura 1 10.7
44 mucopolysaccharidosis-plus syndrome 10.6
45 migraine without aura 10.4
46 lipomatosis 10.4
47 hemangioma 10.4
48 migraine with aura 10.3
49 hemimegalencephaly 10.3
50 proteus syndrome 10.3

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:

56
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

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

Drugs for Hemihyperplasia, Isolated (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
2
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
3
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
4 Anti-Infective Agents Phase 3
5
Liposomal doxorubicin Phase 3 31703
6 Anti-Bacterial Agents Phase 3
7 Tubulin Modulators Phase 3
8 Antibiotics, Antitubercular Phase 3
9 Cactinomycin Phase 3
10 Antimitotic Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
2 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, Skeletal Muscle, Skin, Brain

Publications for Hemihyperplasia, Isolated

Articles related to Hemihyperplasia, Isolated:

(show top 50) (show all 644)
# Title Authors PMID Year
1
Children with idiopathic hemihypertrophy and beckwith-wiedemann syndrome have different constitutional epigenotypes associated with wilms tumor. 56 61
16252245 2005
2
A case of familial isolated hemihyperplasia. 61 56
15040809 2004
3
Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy. 61 56
12624145 2003
4
Congenital hemihypertrophy and pheochromocytoma, not a coincidental combination? 61 56
11998914 2002
5
Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. 56 61
9781907 1998
6
Twelve cases with hemihypertrophy: etiology and follow up. 61 56
8357562 1993
7
Manifestations and natural history of idiopathic hemihypertrophy: a review of eleven cases. 56 61
6467671 1984
8
The hemi 3 syndrome. Hemihypertrophy, hemihypaesthesia, hemiareflexia and scoliosis. 61 56
6722516 1984
9
Wilms's tumor in three children of a woman with congenital hemihypertrophy. 56 61
4364969 1974
10
Wilms' tumor and congenital hemihypertrophy: report of five new cases and review of literature. 56 61
4294698 1967
11
Mental defect and hemihypertrophy. 56 61
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. 56
16770802 2006
13
LIT1 and H19 methylation defects in isolated hemihyperplasia. 56
15651076 2005
14
Non-syndromic hemihyperplasia in a male and his mother. 56
12900901 2003
15
Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia. 56
9781913 1998
16
WT1 expression and hemihypertrophy in congenital mesoblastic nephroma. 54 61
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. 54 61
16532391 2006
19
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. 61 54
15999116 2005
20
Growth regulation, acid sphingomyelinase gene and genomic imprinting: lessons from an experiment of nature. 54 61
11310411 2000
21
Hemihypertrophy With Multiple Facial and Cranial Osteomas Causing External Auditory Canal Obliteration. 61
32282783 2020
22
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
23
Perioperative anesthetic management of reductive glossoplasty in a patient with Beckwith-Wiedemann syndrome. 61
32417109 2020
24
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
25
PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth. 61
31481664 2020
26
Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas. 61
32170967 2020
27
Percutaneous femoral shortening over a nail using on-site smashing osteotomy technique. 61
31542823 2020
28
Partial Nephrectomy for Multifocal, Unilateral Wilms Tumor in a Patient with Hemihypertrophy. 61
31404584 2019
29
Maxillofacial manifestations of Proteus syndrome: a systematic review with a case report. 61
31734933 2019
30
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. 61
31352912 2019
31
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype. 61
31373173 2019
32
Scope of hearing loss in Beckwith-Wiedemann syndrome and hemihypertrophy. 61
31339626 2019
33
Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome. 61
30784096 2019
34
Penile prosthesis implant for primary erectile dysfunction in patient with Klippel-Trenaunay syndrome complicated by consumptive coagulopathy: A case report. 61
31393387 2019
35
PHACES syndrome with ectopia cordis and hemihypertrophy. 61
31191138 2019
36
Tuberous Sclerosis Complex Associated with Hemihypertrophy and Combined Vascular Malformations. 61
30244874 2019
37
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
38
Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report. 61
30762792 2019
39
Screening Procedure for Hemihypertrophy: Preliminary Results of International Multicenter Prospective Study. 61
31321153 2019
40
Hemihyperplasia/hemihypertrophy in adolescents: prospective international study. 61
30645194 2019
41
Clinical features, treatment, and outcomes of bilateral Wilms' tumor: A systematic review and meta-analysis. 61
30274708 2018
42
A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS). 61
30864369 2018
43
A Case of Idiopathic Hemihypertrophy with Hemihypertrichosis. 61
30783341 2018
44
Hemihyperplasia: History of medicine assists medical genetics. 61
30219584 2018
45
Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots. 61
29770905 2018
46
Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives. 61
29204812 2018
47
Targeted therapy in patients with PIK3CA-related overgrowth syndrome. 61
29899452 2018
48
Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report. 61
29452831 2018
49
Fifteen-minute consultation: Assessment, surveillance and management of hemihypertrophy. 61
28844056 2018
50
Surgical Outcomes of Patients with Beckwith-Wiedemann Syndrome. 61
29551244 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 SH3TC2 NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His)SNV Conflicting interpretations of pathogenicity 2485 rs80359890 5:148422281-148422281 5:149042718-149042718
2 46;XY;t(1;3)(p22;q21)dnTranslocation Uncertain significance 267862
3 KIF1B NM_015074.3(KIF1B):c.1977+6205C>TSNV Uncertain significance 279823 rs771399291 1:10363509-10363509 1:10303451-10303451

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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