IH
MCID: HMH004
MIFTS: 49

Hemihyperplasia, Isolated (IH)

Categories: Fetal diseases, Rare 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 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 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 177)
# Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome 31.2 CDKN1C H19 IGF2 KCNQ1OT1 SMPD1 WT1
2 wilms tumor 1 30.9 CDKN1C H19 IGF2 KCNQ1OT1 WT1
3 adrenocortical carcinoma, hereditary 29.8 CDKN1C H19 IGF2
4 congenital mesoblastic nephroma 29.7 IGF2 WT1
5 hepatoblastoma 29.7 CDKN1C H19 IGF2
6 renal cell carcinoma, nonpapillary 29.7 H19 KCNQ1OT1 WT1
7 spastic paraplegia 17, autosomal dominant 29.5 CDKN1C IGF2 KCNQ1OT1
8 hypoinsulinemic hypoglycemia with hemihypertrophy 12.5
9 congenital disorder of glycosylation, type ih 12.4
10 amelogenesis imperfecta, type ih 12.4
11 hurler syndrome 12.2
12 hemihyperplasia-multiple lipomatosis syndrome 12.2
13 hurler-scheie syndrome 12.2
14 usher syndrome, type ih 12.1
15 idiopathic hypersomnia 11.5
16 scheie syndrome 11.5
17 heart disease 11.3
18 persistent idiopathic facial pain 11.3
19 hemi 3 syndrome 11.2
20 ichthyosis, congenital, autosomal recessive 11 11.2
21 pericarditis 11.2
22 macrocephaly mesodermal hamartoma spectrum 11.1
23 hemifacial hyperplasia 11.0
24 megalencephaly-capillary malformation-polymicrogyria syndrome 11.0
25 pik3ca-related overgrowth spectrum 11.0
26 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.0
27 usher syndrome, type id 11.0
28 macular dystrophy, corneal 11.0
29 intracranial hypertension, idiopathic 11.0
30 hemangioma, capillary infantile 11.0
31 intermittent hydrarthrosis 11.0
32 headache 10.3
33 lipomatosis 10.3
34 hemimegalencephaly 10.3
35 hemangioma 10.2
36 migraine without aura 10.2
37 capillary hemangioma 10.2
38 nevus, epidermal 10.1
39 silver-russell syndrome due to an imprinting defect of 11p15 10.1 H19 IGF2
40 silver-russell syndrome due to 11p15 microduplication 10.1 H19 IGF2
41 klippel-trenaunay-weber syndrome 10.1
42 fetal macrosomia 10.1 H19 IGF2
43 tolosa-hunt syndrome 10.1
44 hypertrophic olivary degeneration 10.1
45 kabuki syndrome 1 10.1
46 proteus syndrome 10.1
47 horns in sheep 10.1
48 hepatitis a 10.1
49 scoliosis 10.1
50 adenoma 10.1

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, Temporal Lobe, Brain

Publications for Hemihyperplasia, Isolated

Articles related to Hemihyperplasia, Isolated:

(show all 30)
# Title Authors Year
1
Tuberous Sclerosis Complex Associated with Hemihypertrophy and Combined Vascular Malformations. ( 30244874 )
2018
2
Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots. ( 29770905 )
2018
3
11p15.4 Microdeletion Associates with Hemihypertrophy. ( 30510815 )
2018
4
50 Years Ago in The Journal of Pediatrics: Adrenocortical Neoplasms with Hemihypertrophy, Brain Tumors, and Other Disorders. ( 28010789 )
2017
5
Coexistence of Extraskeletal Mesenchymal Chondrosarcoma and Isolated Hemihyperplasia: A Case Report. ( 27703933 )
2016
6
Results of fifteen-year follow-up from a single center: findings and risks for tumor development in isolated hemihyperplasia cases. ( 25804021 )
2014
7
Medullary sponge kidney and isolated hemihyperplasia. ( 25097338 )
2014
8
Incidence of abdominal tumors in syndromic and idiopathic hemihypertrophy/isolated hemihyperplasia. ( 22411341 )
2012
9
Isolated hemihyperplasia in an infant: an overlooked sign for wilms tumor development. ( 23056692 )
2010
10
Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. ( 19367194 )
2009
11
Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia. ( 18571544 )
2008
12
Focal nodular hyperplasia of the liver and elevated alpha fetoprotein level in an infant with isolated hemihyperplasia. ( 19011479 )
2008
13
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. ( 16770802 )
2006
14
LIT1 and H19 methylation defects in isolated hemihyperplasia. ( 15651076 )
2005
15
A 4-month-old girl with hemihypertrophy. ( 15792108 )
2005
16
A case of familial isolated hemihyperplasia. ( 15040809 )
2004
17
Beckwith-Wiedemann syndrome and isolated hemihyperplasia. ( 12920477 )
2003
18
Bilateral retinal telangiectasia and exudative retinopathy associated with isolated hemihyperplasia. ( 12972772 )
2003
19
Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. ( 12970646 )
2003
20
A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia--a diagnostic dilemma. ( 10532178 )
1999
21
Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. ( 9781907 )
1998
22
Complex congenital hemihypertrophy: a case report and literature review. ( 6587064 )
1984
23
Congenital hemihypertrophy. Tendency to association with other abnormalities and/or tumors. ( 6220211 )
1983
24
Wilms' tumor and adrenocortical carcinoma with hemihypertrophy and hamartomas. ( 206442 )
1978
25
Medullary sponge kidney and congenital total hemihypertrophy. ( 4520356 )
1973
26
Congenital hemihypertrophy. ( 4717433 )
1973
27
Deficient 17-hydroxylation in a corticosterone producing adrenal tumor from an infant with hemihypertrophy and visceromegaly. ( 4907843 )
1970
28
Surgical correction of congenital facial hemihypertrophy: report of case. ( 5259492 )
1969
29
Congenital hemihypertrophy and adrenal carcinoma. ( 5906054 )
1966
30
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 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh37 Chromosome 1, 10363509: 10363509
4 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 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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