IH
MCID: HMH004
MIFTS: 43

Hemihyperplasia, Isolated (IH)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Hemihyperplasia, Isolated

MalaCards integrated aliases for Hemihyperplasia, Isolated:

Name: Hemihyperplasia, Isolated 58 74
Hemihypertrophy 58 54 30 13 56 6
Isolated Hemihyperplasia 60 30
Hemihyperplasia 58 54
Hemihypertrophy, Isolated 58
Hemicorporal Hypertrophy 60
Isolated Hemihypertrophy 60
Hemihyperplasia; Hhp 58
Hemi 3 Syndrome 60
Hemi-3 Syndrome 74
Hhp 58
Ih 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
present at birth
prevalence estimated at 1 in 86,000
may be due to imprinting defect
see also facial hemihypertrophy


HPO:

33
hemihyperplasia, isolated:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 235000
ICD10 via Orphanet 35 Q87.3
UMLS via Orphanet 75 C0332890 C1856184
Orphanet 60 ORPHA2128
MedGen 43 C1856184

Summaries for Hemihyperplasia, Isolated

OMIM : 58 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 beckwith-wiedemann syndrome and wilms tumor 1. 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 heart, skeletal muscle and kidney, and related phenotypes are scoliosis and hemihypertrophy

NIH Rare Diseases : 54 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 : 77 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 187)
# Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome 30.6 WT1 SMPD1 KCNQ1OT1 IGF2 H19 CDKN1C
2 wilms tumor 1 30.6 WT1 KCNQ1OT1 IGF2 H19 CDKN1C
3 congenital mesoblastic nephroma 29.8 IGF2 WT1
4 adrenocortical carcinoma, hereditary 29.8 CDKN1C H19 IGF2
5 hepatoblastoma 29.6 CDKN1C H19 IGF2
6 renal cell carcinoma, nonpapillary 29.6 H19 KCNQ1OT1 WT1
7 spastic paraplegia 17, autosomal dominant 29.4 CDKN1C IGF2 KCNQ1OT1
8 hypoinsulinemic hypoglycemia with hemihypertrophy 12.5
9 hemihyperplasia-multiple lipomatosis syndrome 12.4
10 congenital disorder of glycosylation, type ih 12.4
11 amelogenesis imperfecta, type ih 12.4
12 hurler syndrome 12.3
13 hurler-scheie syndrome 12.2
14 usher syndrome, type ih 12.2
15 idiopathic hypersomnia 11.5
16 scheie syndrome 11.5
17 heart disease 11.4
18 persistent idiopathic facial pain 11.4
19 hemi 3 syndrome 11.3
20 ichthyosis, congenital, autosomal recessive 11 11.2
21 pericarditis 11.2
22 hemifacial hyperplasia 11.1
23 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.1
24 macrocephaly mesodermal hamartoma spectrum 11.1
25 usher syndrome, type id 11.1
26 macular dystrophy, corneal 11.0
27 intracranial hypertension, idiopathic 11.0
28 hemangioma, capillary infantile 11.0
29 intermittent hydrarthrosis 11.0
30 headache 10.4
31 lipomatosis 10.3
32 hemimegalencephaly 10.3
33 hemangioma 10.3
34 capillary hemangioma 10.3
35 mucopolysaccharidosis-plus syndrome 10.2
36 migraine without aura 10.2
37 silver-russell syndrome due to an imprinting defect of 11p15 10.2 H19 IGF2
38 silver-russell syndrome due to 11p15 microduplication 10.2 H19 IGF2
39 nevus, epidermal 10.2
40 fetal macrosomia 10.2 H19 IGF2
41 klippel-trenaunay-weber syndrome 10.1
42 tolosa-hunt syndrome 10.1
43 hypertrophic olivary degeneration 10.1
44 horns in sheep 10.1
45 hepatitis a 10.1
46 kabuki syndrome 1 10.1
47 proteus syndrome 10.1
48 wilms tumor 5 10.1
49 wilms tumor 6 10.1
50 scoliosis 10.1

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:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
2 hemihypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001528
3 asymmetry of the thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0001555
4 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
5 intellectual disability, mild 60 33 very rare (1%) Frequent (79-30%) HP:0001256
6 facial asymmetry 60 33 frequent (33%) Frequent (79-30%) HP:0000324
7 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
8 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
9 impaired pain sensation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007328
10 nephroblastoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002667
11 myelomeningocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002475
12 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
13 malformation of the heart and great vessels 60 Occasional (29-5%)
14 skeletal muscle hypertrophy 33 HP:0003712
15 embryonal neoplasm 33 HP:0002898

Symptoms via clinical synopsis from OMIM:

58
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:

27 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.47 IGF2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.47 IGF2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.47 SMPD1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.47 IGF2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.47 SMPD1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.47 IGF2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.47 CDKN1C
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.47 SMPD1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.47 IGF2 SMPD1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.47 SMPD1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.47 CDKN1C IGF2 SMPD1

Drugs & Therapeutics for Hemihyperplasia, Isolated

Search Clinical Trials , NIH Clinical Center for Hemihyperplasia, Isolated

Genetic Tests for Hemihyperplasia, Isolated

Genetic tests related to Hemihyperplasia, Isolated:

# Genetic test Affiliating Genes
1 Hemihypertrophy 30
2 Isolated Hemihyperplasia 30

Anatomical Context for Hemihyperplasia, Isolated

MalaCards organs/tissues related to Hemihyperplasia, Isolated:

42
Heart, Skeletal Muscle, Kidney, Liver

Publications for Hemihyperplasia, Isolated

Articles related to Hemihyperplasia, Isolated:

(show all 24)
# Title Authors Year
1
Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report. ( 30762792 )
2019
2
Hemihyperplasia/hemihypertrophy in adolescents: prospective international study. ( 30645194 )
2019
3
Tuberous Sclerosis Complex Associated with Hemihypertrophy and Combined Vascular Malformations. ( 30244874 )
2018
4
Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots. ( 29770905 )
2018
5
11p15.4 Microdeletion Associates with Hemihypertrophy. ( 30510815 )
2018
6
A Case of Idiopathic Hemihypertrophy with Hemihypertrichosis. ( 30783341 )
2018
7
Coexistence of Extraskeletal Mesenchymal Chondrosarcoma and Isolated Hemihyperplasia: A Case Report. ( 27703933 )
2016
8
Results of fifteen-year follow-up from a single center: findings and risks for tumor development in isolated hemihyperplasia cases. ( 25804021 )
2014
9
Medullary sponge kidney and isolated hemihyperplasia. ( 25097338 )
2014
10
Incidence of abdominal tumors in syndromic and idiopathic hemihypertrophy/isolated hemihyperplasia. ( 22411341 )
2012
11
Isolated hemihyperplasia in an infant: an overlooked sign for wilms tumor development. ( 23056692 )
2010
12
Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. ( 19367194 )
2009
13
Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia. ( 18571544 )
2008
14
Focal nodular hyperplasia of the liver and elevated alpha fetoprotein level in an infant with isolated hemihyperplasia. ( 19011479 )
2008
15
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. ( 16770802 )
2006
16
LIT1 and H19 methylation defects in isolated hemihyperplasia. ( 15651076 )
2005
17
A case of familial isolated hemihyperplasia. ( 15040809 )
2004
18
Beckwith-Wiedemann syndrome and isolated hemihyperplasia. ( 12920477 )
2003
19
Bilateral retinal telangiectasia and exudative retinopathy associated with isolated hemihyperplasia. ( 12972772 )
2003
20
Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. ( 12970646 )
2003
21
Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. ( 9781907 )
1998
22
Wilms' tumor and adrenocortical carcinoma with hemihypertrophy and hamartomas. ( 206442 )
1978
23
Congenital hemihypertrophy and adrenal carcinoma. ( 5906054 )
1966
24
Hemihypertrophy: a case report. ( 5865057 )
1965

Variations for Hemihyperplasia, Isolated

ClinVar genetic disease variations for Hemihyperplasia, Isolated:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 GRCh37 Chromosome 5, 148422281: 148422281
2 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 GRCh38 Chromosome 5, 149042718: 149042718
3 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
4 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh37 Chromosome 1, 10363509: 10363509
5 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh38 Chromosome 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 CDKN1C WT1
2 10.44 CDKN1C IGF2

GO Terms for Hemihyperplasia, Isolated

Biological processes related to Hemihyperplasia, Isolated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.26 CDKN1C WT1
2 camera-type eye development GO:0043010 9.16 CDKN1C WT1
3 adrenal gland development GO:0030325 8.96 CDKN1C WT1
4 embryonic placenta morphogenesis GO:0060669 8.62 CDKN1C IGF2

Sources for Hemihyperplasia, Isolated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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