MCID: HM3001
MIFTS: 33

Hemi 3 Syndrome malady

Rare diseases, Fetal diseases, Cancer diseases categories

Summaries for Hemi 3 Syndrome

About this section


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.

Aliases & Classifications for Hemi 3 Syndrome

About this section
Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

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


Classifications:

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

Related Diseases for Hemi 3 Syndrome

About this section

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
11hemimegalencephaly10.3
12hypoinsulinemic hypoglycemia with hemihypertrophy10.3
13proteus syndrome, somatic10.3
14klippel-trenaunay-weber syndrome10.2
15scoliosis10.2
16aniridia10.2
17pheochromocytoma10.2
18cerebritis10.2
19retinal telangiectasia10.1
20retinitis10.1
21embryonal cancer10.1H19, IGF2
22focal dermal hypoplasia10.1
23lipomatosis10.1
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
39melorheostosis10.0
40clear cell adenocarcinoma10.0
41adenocarcinoma10.0
42congenital heart disease10.0
43hypertrichosis10.0
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

About this section

Symptoms:

 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

About this section

Drug clinical trials:

Search ClinicalTrials for Hemi 3 Syndrome

Search NIH Clinical Center for Hemi 3 Syndrome

Genetic Tests for Hemi 3 Syndrome

About this section

Genetic tests related to Hemi 3 Syndrome:

id Genetic test Affiliating Genes
1 Hemihypertrophy22

Anatomical Context for Hemi 3 Syndrome

About this section

MalaCards organs/tissues related to Hemi 3 Syndrome:

31
Testes, Heart

Animal Models for Hemi 3 Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Hemi 3 Syndrome:

35
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

About this section

Articles related to Hemi 3 Syndrome:

idTitleAuthorsYear
1
The hemi 3 syndrome. Hemihypertrophy, hemihypaesthesia, hemiareflexia and scoliosis. (6722516)
1984

Variations for Hemi 3 Syndrome

About this section

Expression for genes affiliated with Hemi 3 Syndrome

About this section
Search GEO for disease gene expression data for Hemi 3 Syndrome.

Pathways for genes affiliated with Hemi 3 Syndrome

About this section

Compounds for genes affiliated with Hemi 3 Syndrome

About this section
Sources:
43Novoseek, 2BitterDB, 49PharmGKB, 12DrugBank, 24HMDB
See all sources

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

About this section

Products for genes affiliated with Hemi 3 Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hemi 3 Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet