MCID: HM3001

Hemi 3 Syndrome malady

Rare diseases, Fetal diseases, Cancer diseases categories

Summaries for Hemi 3 Syndrome

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MalaCards based summary: Hemi 3 Syndrome, also known as hemihypertrophy, is related to wilms tumor and beckwith-wiedemann syndrome, and has symptoms including asymmetry of the thorax, scoliosis and asymmetric growth. An important gene associated with Hemi 3 Syndrome is H19 (H19, imprinted maternally expressed transcript (non-protein coding)). The compounds nap-2 and apai have been mentioned in the context of this disorder. Affiliated tissues include testes and heart, and related mouse phenotypes are growth/size/body and embryogenesis.

Aliases & Classifications for Hemi 3 Syndrome

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43NIH Rare Diseases, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Hemi 3 Syndrome, Aliases & Descriptions:

Name: Hemi 3 Syndrome 43 49
Hemihypertrophy 43 45 49 24
Isolated Hemihyperplasia 43 49
Hemicorporal Hypertrophy 43 49
Hemi-3 Syndrome 62


Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases, Cancer diseases

External Ids:

Orphanet49 2128
ICD10 via Orphanet28 Q87.3
UMLS via Orphanet63 C0332890

Related Diseases for Hemi 3 Syndrome

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Diseases related to Hemi 3 Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 189)
idRelated DiseaseScoreTop Affiliating Genes
1wilms tumor30.6H19, KCNQ1OT1, IGF2
2beckwith-wiedemann syndrome30.4KCNQ1OT1, H19, IGF2
3adenoma30.2H19, IGF2
4hepatoblastoma30.1H19, IGF2
5rhabdomyosarcoma30.1H19, IGF2
6adrenocortical carcinoma30.0IGF2, H19
7embryonal rhabdomyosarcoma29.8IGF2, H19
8adrenal adenoma29.8H19, IGF2
9breast cancer29.8IGF2, H19
10medullary sponge kidney10.4
12proteus syndrome, somatic10.3
13hypoinsulinemic hypoglycemia with hemihypertrophy10.2
14klippel-trenaunay-weber syndrome10.2
19retinal telangiectasia10.1
21focal dermal hypoplasia10.1
23weber syndrome10.1
24clapo syndrome10.1
25angioosteohypertrophic syndrome10.1
26embryonal cancer10.0IGF2, H19
27silver-russell syndrome10.0H19, IGF2
28parkes weber syndrome10.0
29townes-brocks syndrome10.0
30renal cell carcinoma10.0
31megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.0
32localized scleroderma10.0
34clear cell adenocarcinoma10.0
36congenital heart disease10.0
38hemihypertrophy intestinal web corneal opacity10.0
39limb-body wall complex10.0
40michelin tire baby syndrome10.0
41splenogonadal fusion limb defects micrognatia10.0
42proteus-like syndrome10.0
43segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus10.0
44cleft lip/palate - deafness - sacral lipoma10.0
45dysmorphism - short stature - deafness - disorder of sex development10.0
46hypoinsulinemic hypoglycemia and body hemihypertrophy10.0
47gestational trophoblastic neoplasm10.0H19, IGF2
48adrenal cortical adenoma10.0IGF2, H19
49seminoma10.0IGF2, H19
50choriocarcinoma10.0IGF2, H19

Graphical network of the top 20 diseases related to Hemi 3 Syndrome:

Diseases related to hemi 3 syndrome

Symptoms for Hemi 3 Syndrome

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 49 (show all 14)
  • asymmetric rib cage/thorax
  • scoliosis
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • inguinal/inguinoscrotal/crural hernia
  • congenital cardiac anomaly/malformation/cardiopathy
  • bladder and ureter anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • myelomeningocele
  • areflexia/hyporeflexia
  • insensitivity to pain
  • nephroblastoma/wilms tumor

HPO human phenotypes related to Hemi 3 Syndrome:

(show all 22)
id Description Frequency HPO Source Accession
1 asymmetry of the thorax hallmark (90%) HP:0001555
2 scoliosis hallmark (90%) HP:0002650
3 asymmetric growth hallmark (90%) HP:0100555
4 abnormality of the teeth typical (50%) HP:0000164
5 facial asymmetry typical (50%) HP:0000324
6 cognitive impairment typical (50%) HP:0100543
7 intellectual disability, mild 20% HP:0001256
8 cryptorchidism occasional (7.5%) HP:0000028
9 reduced tendon reflexes occasional (7.5%) HP:0001315
10 myelomeningocele occasional (7.5%) HP:0002475
11 malformation of the heart and great vessels occasional (7.5%) HP:0002564
12 nephroblastoma (wilms tumor) occasional (7.5%) HP:0002667
13 hernia of the abdominal wall occasional (7.5%) HP:0004299
14 impaired pain sensation occasional (7.5%) HP:0007328
15 autosomal dominant inheritance HP:0000006
16 hemihypertrophy HP:0001528
17 myelomeningocele HP:0002475
18 scoliosis HP:0002650
19 nephroblastoma (wilms tumor) HP:0002667
20 embryonal neoplasm HP:0002898
21 muscle hypertrophy HP:0003712
22 incomplete penetrance HP:0003829

Drugs & Therapeutics for Hemi 3 Syndrome

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Drug clinical trials:

Search ClinicalTrials for Hemi 3 Syndrome

Search NIH Clinical Center for Hemi 3 Syndrome

Genetic Tests for Hemi 3 Syndrome

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Genetic tests related to Hemi 3 Syndrome:

id Genetic test Affiliating Genes
1 Hemihypertrophy24

Anatomical Context for Hemi 3 Syndrome

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MalaCards organs/tissues related to Hemi 3 Syndrome:

Testes, Heart

Animal Models for Hemi 3 Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hemi 3 Syndrome:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.5H19, KCNQ1OT1, IGF2
2MP:00053808.4H19, KCNQ1OT1, IGF2
3MP:00053848.2H19, KCNQ1OT1, IGF2

Publications for Hemi 3 Syndrome

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Articles related to Hemi 3 Syndrome:

The hemi 3 syndrome. Hemihypertrophy, hemihypaesthesia, hemiareflexia and scoliosis. (6722516)

Variations for Hemi 3 Syndrome

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Expression for genes affiliated with Hemi 3 Syndrome

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Search GEO for disease gene expression data for Hemi 3 Syndrome.

Pathways for genes affiliated with Hemi 3 Syndrome

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Compounds for genes affiliated with Hemi 3 Syndrome

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45Novoseek, 3BitterDB, 51PharmGKB, 13DrugBank, 26HMDB
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Compounds related to Hemi 3 Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1nap-2459.6H19, IGF2
2apai459.6H19, IGF2
3rsai459.5IGF2, H19
4azathioprine45 3 51 1312.5H19, IGF2
55-aza-2deoxycytidine459.5H19, IGF2
6acth459.4IGF2, H19
7agar459.4H19, IGF2
8ribonucleic acid459.3H19, IGF2
9steroid459.3H19, IGF2
10paraffin459.2IGF2, H19
11thymidine45 2610.0H19, IGF2

GO Terms for genes affiliated with Hemi 3 Syndrome

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Products for genes affiliated with Hemi 3 Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hemi 3 Syndrome

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28ICD10 via Orphanet
36MESH via Orphanet
48OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet