MCID: HM3001

Hemi 3 Syndrome malady

Rare diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Hemi 3 Syndrome

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41NIH Rare Diseases, 47Orphanet, 43Novoseek, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Hemi 3 Syndrome, Aliases & Descriptions:

Name: Hemi 3 Syndrome 41 47
Hemihypertrophy 41 43 47 22
Isolated Hemihyperplasia 41 47
Hemicorporal Hypertrophy 41 47
Hemihyperplasia, Isolated 60
Hemi-3 Syndrome 60


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

External Ids:

Orphanet47 2128
ICD10 via Orphanet26 Q87.3
UMLS via Orphanet61 C0332890

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 hepatoblastoma, 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.

Related Diseases for Hemi 3 Syndrome

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

(show top 50)    (show all 189)
idRelated DiseaseScoreTop Affiliating Genes
1wilms tumor30.3IGF2, KCNQ1OT1, H19
2hepatoblastoma30.2H19, IGF2
3rhabdomyosarcoma30.2H19, IGF2
4adenoma30.2H19, IGF2
5beckwith-wiedemann syndrome30.1IGF2, KCNQ1OT1, H19
6adrenocortical carcinoma30.1H19, IGF2
7embryonal rhabdomyosarcoma29.9H19, IGF2
8adrenal adenoma29.9H19, IGF2
9breast cancer29.7H19, IGF2
10medullary sponge kidney10.4
12hypoinsulinemic hypoglycemia with hemihypertrophy10.3
13proteus syndrome, somatic10.3
14klippel-trenaunay-weber syndrome10.2
19retinal telangiectasia10.1
21embryonal cancer10.1H19, IGF2
22focal dermal hypoplasia10.1
24hemihypertrophy intestinal web corneal opacity10.1
25weber syndrome10.1
26clapo syndrome10.1
27angioosteohypertrophic syndrome10.1
28hypoinsulinemic hypoglycemia and body hemihypertrophy10.1
29silver-russell syndrome10.1H19, IGF2
30gestational trophoblastic neoplasm10.1H19, IGF2
31adrenal cortical adenoma10.1IGF2, H19
32seminoma10.0IGF2, H19
33choriocarcinoma10.0H19, IGF2
34parkes weber syndrome10.0
35townes-brocks syndrome10.0
36renal cell carcinoma10.0
37megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.0
38localized scleroderma10.0
40clear cell adenocarcinoma10.0
42congenital heart disease10.0
44limb-body wall complex10.0
45michelin tire baby syndrome10.0
46splenogonadal fusion limb defects micrognatia10.0
47proteus-like syndrome10.0
48segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus10.0
49cleft lip/palate - deafness - sacral lipoma10.0
50dysmorphism - short stature - deafness - disorder of sex development10.0

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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 47 (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 Hemihypertrophy22

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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43Novoseek, 2BitterDB, 49PharmGKB, 12DrugBank, 24HMDB
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Compounds related to Hemi 3 Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
1nap-2439.6H19, IGF2
2apai439.6H19, IGF2
3rsai439.5IGF2, H19
4azathioprine43 2 49 1212.5H19, IGF2
55-aza-2deoxycytidine439.5H19, IGF2
6acth439.4IGF2, H19
7agar439.4H19, IGF2
8ribonucleic acid439.3H19, IGF2
9steroid439.3H19, IGF2
10paraffin439.2IGF2, H19
11thymidine43 2410.0H19, 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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26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet