MCID: HMH004
MIFTS: 40

Hemihyperplasia, Isolated

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Hemihyperplasia, Isolated

MalaCards integrated aliases for Hemihyperplasia, Isolated:

Name: Hemihyperplasia, Isolated 57 73
Hemihypertrophy 57 53 29 13 55 6
Isolated Hemihyperplasia 59 29
Hemihyperplasia 57 53
Hemihypertrophy, Isolated 57
Hemicorporal Hypertrophy 59
Isolated Hemihypertrophy 59
Hemihyperplasia; Hhp 57
Hemi 3 Syndrome 59
Hemi-3 Syndrome 73
Hhp 57
Ih 57

Characteristics:

OMIM:

57
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:

32
hemihyperplasia, isolated:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 235000
Orphanet 59 ORPHA2128
UMLS via Orphanet 74 C0332890 C1856184
ICD10 via Orphanet 34 Q87.3
MedGen 42 C1856184

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)

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 heart, skeletal muscle and kidney, and related phenotypes are scoliosis and inguinal hernia

NIH Rare Diseases : 53 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 : 76 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 101)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 31.0 H19 IGF2 WT1
2 hepatoblastoma 29.4 CDKN1C H19 IGF2
3 adrenocortical carcinoma, hereditary 29.1 CDKN1C H19 IGF2
4 renal cell carcinoma, nonpapillary 29.0 H19 KCNQ1OT1 WT1
5 wilms tumor 5 29.0 CDKN1C H19 IGF2 WT1
6 beckwith-wiedemann syndrome 26.5 CDKN1C H19 IGF2 KCNQ1OT1 SMPD1 WT1
7 hypoinsulinemic hypoglycemia with hemihypertrophy 12.3
8 hemihyperplasia-multiple lipomatosis syndrome 12.3
9 congenital disorder of glycosylation, type ih 12.3
10 amelogenesis imperfecta, type ih 12.2
11 hurler syndrome 12.1
12 hurler-scheie syndrome 12.0
13 usher syndrome, type ih 12.0
14 hemifacial hyperplasia 11.8
15 proteus syndrome 11.6
16 idiopathic hypersomnia 11.3
17 scheie syndrome 11.3
18 heart disease 11.2
19 hemi 3 syndrome 11.1
20 ichthyosis, congenital, autosomal recessive 11 11.0
21 pericarditis 11.0
22 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.9
23 macrocephaly mesodermal hamartoma spectrum 10.9
24 usher syndrome, type id 10.9
25 macular dystrophy, corneal 10.8
26 intracranial hypertension, idiopathic 10.8
27 hemangioma, capillary infantile 10.8
28 intermittent hydrarthrosis 10.8
29 persistent idiopathic facial pain 10.8
30 silver-russell syndrome due to an imprinting defect of 11p15 10.4 H19 IGF2
31 silver-russell syndrome due to 11p15 microduplication 10.4 H19 IGF2
32 fetal macrosomia 10.3 H19 IGF2
33 wilms tumor 6 10.2
34 headache 10.2
35 iris disease 10.2 IGF2 WT1
36 congenital mesoblastic nephroma 10.2 IGF2 WT1
37 rhabdoid cancer 10.2 IGF2 WT1
38 gestational trophoblastic neoplasm 10.1 CDKN1C H19
39 silver-russell syndrome due to a point mutation 10.1 CDKN1C IGF2
40 medullary sponge kidney 10.1
41 hydatidiform mole, recurrent, 1 10.1 CDKN1C H19
42 hemimegalencephaly 10.1
43 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.1 IGF2 WT1
44 trophoblastic neoplasm 10.1 CDKN1C H19
45 muscle cancer 10.1 IGF2 WT1
46 migraine without aura 10.1
47 wilson-turner x-linked mental retardation syndrome 10.0 IGF2 WT1
48 kidney cancer 10.0 H19 KCNQ1OT1
49 congenital disorder of glycosylation, type in 10.0
50 clear cell sarcoma 10.0 IGF2 WT1

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



Diseases related to Hemihyperplasia, Isolated

Symptoms & Phenotypes for Hemihyperplasia, Isolated

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hemihyperplasia, Isolated:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
2 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
3 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
4 intellectual disability, mild 59 32 very rare (1%) Frequent (79-30%) HP:0001256
5 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
6 impaired pain sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007328
7 facial asymmetry 59 32 frequent (33%) Frequent (79-30%) HP:0000324
8 nephroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002667
9 hemihypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001528
10 asymmetry of the thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0001555
11 myelomeningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002475
12 malformation of the heart and great vessels 59 Occasional (29-5%)
13 skeletal muscle hypertrophy 32 HP:0003712
14 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
15 embryonal neoplasm 32 HP:0002898

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-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 29
2 Isolated Hemihyperplasia 29

Anatomical Context for Hemihyperplasia, Isolated

MalaCards organs/tissues related to Hemihyperplasia, Isolated:

41
Heart, Skeletal Muscle, Kidney, Liver

Publications for Hemihyperplasia, Isolated

Articles related to Hemihyperplasia, Isolated:

(show all 15)
# Title Authors Year
1
Coexistence of Extraskeletal Mesenchymal Chondrosarcoma and Isolated Hemihyperplasia: A Case Report. ( 27703933 )
2016
2
Results of fifteen-year follow-up from a single center: findings and risks for tumor development in isolated hemihyperplasia cases. ( 25804021 )
2014
3
Medullary sponge kidney and isolated hemihyperplasia. ( 25097338 )
2014
4
Incidence of abdominal tumors in syndromic and idiopathic hemihypertrophy/isolated hemihyperplasia. ( 22411341 )
2012
5
Isolated hemihyperplasia in an infant: an overlooked sign for wilms tumor development. ( 23056692 )
2010
6
Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. ( 19367194 )
2009
7
Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia. ( 18571544 )
2008
8
Focal nodular hyperplasia of the liver and elevated alpha fetoprotein level in an infant with isolated hemihyperplasia. ( 19011479 )
2008
9
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. ( 16770802 )
2006
10
LIT1 and H19 methylation defects in isolated hemihyperplasia. ( 15651076 )
2005
11
A case of familial isolated hemihyperplasia. ( 15040809 )
2004
12
Beckwith-Wiedemann syndrome and isolated hemihyperplasia. ( 12920477 )
2003
13
Bilateral retinal telangiectasia and exudative retinopathy associated with isolated hemihyperplasia. ( 12972772 )
2003
14
Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. ( 12970646 )
2003
15
Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. ( 9781907 )
1998

Variations for Hemihyperplasia, Isolated

ClinVar genetic disease variations for Hemihyperplasia, Isolated:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
2 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh37 Chromosome 1, 10363509: 10363509
3 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

Sources for Hemihyperplasia, Isolated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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