MCID: HMH002
MIFTS: 50

Hemihypertrophy malady

Fetal diseases, Cancer diseases categories

Summaries for Hemihypertrophy

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Hemihypertrophy is a condition in which one side of the body or a part of one side is larger than the... more...

MalaCards: Hemihypertrophy, also known as hemihyperplasia, isolated, is related to adenocarcinoma and breast cancer, and has symptoms including nephroblastoma/wilms tumor, insensitivity to pain and areflexia/hyporeflexia. An important gene associated with Hemihypertrophy is H19 (H19, imprinted maternally expressed transcript (non-protein coding)), and among its related pathways are Development IGF-RI signaling and Glioblastoma Multiforme. The compounds butyrate and nap-2 have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related mouse phenotypes are nervous system and muscle.

Description from OMIM:46 235000

Aliases & Classifications for Hemihypertrophy

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48Orphanet, 46OMIM, 44Novoseek, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

hemihypertrophy 46 44 48
hemihyperplasia, isolated 60
isolated hemihyperplasia 48
hemicorporal hypertrophy 48
hemi-3 syndrome 60
hemi 3 syndrome 48


External Ids:

SNOMED-CT via Orphanet57 56007004
OMIM46 235000
ICD10 via Orphanet26 Q87.3

Related Diseases for Hemihypertrophy

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17GeneCards, 18GeneDecks
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Diseases related to Hemihypertrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 237)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma34.8H19, WT1, AKT2, AFP, CDKN1C, INSR
2breast cancer34.6H19, AKT2, IGF2, PTEN
3beckwith-wiedemann syndrome30.3H19, KCNQ1OT1, WT1, IGF2, SMPD1, TH
4adenoma30.1H19, IGF2, CDKN1C, INSR, SMPD1
5rhabdomyosarcoma30.0H19, WT1, IGF2
6pheochromocytoma30.0TH, INSR, H19
7hepatoblastoma30.0H19, AFP, IGF2, CDKN1C, INSR
8adrenocortical carcinoma29.9CDKN1C, IGF2, H19
9hydrocephalus29.7AFP
10adrenal adenoma29.7CDKN1C, IGF2, H19
11embryonal rhabdomyosarcoma29.7IGF2, WT1, H19
12sarcoma29.7WT1, IGF2, TH
13leukemia29.7H19, WT1, CDKN1C, SMPD1
14diabetes mellitus13.3AKT2, INSR, ABCC8
15ovarian cancer13.3WT1, AKT2, INSR, PTEN
16pancreatic cancer13.3AKT2, CDKN1C
17prostate cancer13.3AKT2, IGF2, INSR, TH, PTEN
18squamous cell carcinoma13.3H19, AKT2, CDKN1C, INSR, PTEN, SMPD1
19thymoma13.3AKT2
20type 2 diabetes mellitus13.3INSR, AKT2
21insulin resistance13.3AKT2, IGF2, INSR, ABCC8, TH
22klippel-trenaunay syndrome10.3
23hemi 3 syndrome10.2
24proteus syndrome10.2
25hemihypertrophy intestinal web corneal opacity10.1
26retinal telangiectasia10.1
27retinitis10.1
28aniridia10.1
29cerebritis10.1
30hypoinsulinemic hypoglycemia with hemihypertrophy10.1
31focal dermal hypoplasia10.0
32lipomatosis10.0
33proteus syndrome, somatic10.0
34clapo syndrome10.0
35gigantism10.0H19
36wagr syndrome10.0WT1
37neuroblastoma10.0TH
38myeloid leukemia10.0WT1
39multiple endocrine neoplasia10.0TH
40fetal macrosomia10.0IGF2
41pituitary adenoma10.0ABCC8
42gestational trophoblastic neoplasm10.0CDKN1C
43paraganglioma10.0TH
44growth retardation-mild developmental delay-chronic hepatitis syndrome10.0IGF2
45medulloblastoma10.0IGF2
46familial adenomatous polyposis10.0SMPD1
47atherosclerosis10.0SMPD1
48nephroblastoma10.0CDKN1C, WT1
49testicular cancer10.0AFP
50embryonal cancer10.0H19, IGF2

Graphical network of the top 20 diseases related to Hemihypertrophy:



Diseases related to hemihypertrophy

Clinical Features for Hemihypertrophy

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

235000

Clinical synopsis from OMIM:

235000

Symptoms:

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

Drugs & Therapeutics for Hemihypertrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hemihypertrophy

Drug clinical trials:

Search ClinicalTrials for Hemihypertrophy

Search NIH Clinical Center for Hemihypertrophy

Search CenterWatch for Hemihypertrophy

Genetic Tests for Hemihypertrophy

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Anatomical Context for Hemihypertrophy

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32MalaCards
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MalaCards organs/tissues related to Hemihypertrophy:

32
Bone, Testes

Animal Models for Hemihypertrophy or affiliated genes

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36MGI
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Publications for Hemihypertrophy

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Genetic Variations for Hemihypertrophy

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Expression for genes affiliated with Hemihypertrophy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemihypertrophy

Search GEO for disease gene expression data for Hemihypertrophy.

Pathways for genes affiliated with Hemihypertrophy

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Sources:
12EMD Millipore, 51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 4Cell Signaling Technology, 52R&D Systems
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Compounds for genes affiliated with Hemihypertrophy

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Sources:
44Novoseek, 49PharmGKB, 2BitterDB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Hemihypertrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1butyrate4410.4TH
2nap-24410.3IGF2, H19
3apai4410.3IGF2, H19
4glutamate4410.1ABCC8
5hpaii449.8WT1, H19
6ly294002449.8IGF2, INSR
7ag 1024449.7INSR, IGF2
8steroid449.5H19, WT1, AFP
9azathioprine44 49 2 1112.5H19, IGF2, AFP
10cytosine44 2410.4WT1, H19, AFP
115-aza-2deoxycytidine449.4PTEN, CDKN1C, IGF2, H19
12paclitaxel44 49 1111.4AFP, PTEN, IGF2
13h2o2449.3AFP, PTEN, TH
14progestin449.2IGF2, INSR, TH
15gefitinib44 49 1111.2PTEN, INSR, IGF2
16rapamycin449.2IGF2, INSR, PTEN
17cisplatin44 49 59 1112.1IGF2, AFP, SMPD1, PTEN
18vincristine44 49 1111.1AFP, PTEN, WT1
19wortmannin449.1SMPD1, PTEN, INSR
20mannose 6-phosphate44 2410.1IGF2, INSR, SMPD1
21polyethylene glycol449.1INSR, IGF2, AFP
22etoposide44 49 59 1112.0WT1, AFP, IGF2, PTEN
23doxorubicin44 49 1110.9WT1, SMPD1, PTEN, AFP
24verapamil44 49 28 11 2412.8INSR, IGF2, TH
25zinc44 249.8AFP, H19, WT1, IGF2, SMPD1
26phosphatidylinositol448.8INSR, IGF2, PTEN, SMPD1
27cysteine448.8SMPD1, PTEN, IGF2, ABCC8, TH
28oligonucleotide448.7IGF2, WT1, PTEN, SMPD1, AFP
29ibmx44 28 5910.6IGF2, TH, INSR
30actinomycin d448.5IGF2, TH, AFP, INSR
31thymidine44 249.5INSR, IGF2, AFP, WT1, H19
32cholesterol44 28 11 2411.5CDKN1C, ABCC8, SMPD1, PTEN, AFP
33glucose448.4INSR, IGF2, ABCC8, PTEN, SMPD1
34agar448.4INSR, IGF2, AFP, PTEN, H19
35paraffin448.4WT1, AFP, IGF2, TH, PTEN, H19
36chloramphenicol44 2 1110.3IGF2, INSR, AFP, TH, WT1
37threonine448.3PTEN, WT1, AFP, INSR
38retinoic acid44 249.3H19, WT1, AFP, IGF2, TH, PTEN
39glutamine448.3IGF2, AFP, WT1, INSR, TH
40adp44 28 2410.3ABCC8, INSR, PTEN, SMPD1
41vitamin d448.2WT1, INSR, AFP, IGF2, PTEN
42glycogen44 249.2PTEN, ABCC8, INSR, IGF2, AFP
43lipid448.0PTEN, ABCC8, INSR, AFP, SMPD1
44arginine448.0INSR, SMPD1, PTEN, ABCC8, IGF2, WT1
45alanine447.9INSR, AFP, TH, PTEN, IGF2
46vegf447.8WT1, TH, AFP, IGF2, PTEN, INSR
47aspartate447.6TH, AFP, SMPD1, INSR, ABCC8, PTEN
48serine447.4SMPD1, PTEN, ABCC8, INSR, IGF2, AFP
49testosterone44 59 11 2410.3TH, PTEN, ABCC8, INSR, AFP, WT1
50tyrosine446.7INSR, IGF2, ABCC8, TH, WT1, H19

GO Terms for genes affiliated with Hemihypertrophy

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16Gene Ontology
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Biological processes related to Hemihypertrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of glucose importGO:0463269.7INSR
2positive regulation of glycogen biosynthetic processGO:0457259.5INSR, IGF2
3positive regulation of protein phosphorylationGO:0019349.4INSR, IGF2
4insulin receptor signaling pathwayGO:0082869.3INSR, IGF2
5heart developmentGO:0075079.1WT1, TH, PTEN
6positive regulation of mitosisGO:0458409.1INSR, IGF2

Molecular functions related to Hemihypertrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:0051599.4INSR, IGF2

Products for genes affiliated with Hemihypertrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemihypertrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet