MCID: HMH002
MIFTS: 57

Hemihypertrophy malady

Fetal, Cancer categories

Summaries for Hemihypertrophy

Sources:
64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 Hemihypertrophy is a disorder 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 wilms tumor, and has symptoms including asymmetric rib cage/thorax, scoliosis and asymmetry of the body/hemiatrophy/hemihyperthrophy. 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 brain, cortex and heart, and related mouse phenotypes are nervous system and muscle.

Description from OMIM:47 235000

Aliases & Classifications for Hemihypertrophy

Sources:
49Orphanet, 47OMIM, 45Novoseek, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Aliases & Descriptions:

hemihypertrophy 47 45 49
hemihyperplasia, isolated 61
isolated hemihyperplasia 49
hemicorporal hypertrophy 49
hemi-3 syndrome 61
hemi 3 syndrome 49


External Ids:

OMIM47 235000
ICD10 via Orphanet26 Q87.3

Related Diseases for Hemihypertrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 246)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma34.9H19, WT1, AKT2, AFP, CDKN1C, INSR
2wilms tumor30.6KCNQ1OT1, H19, WT1, IGF2, CDKN1C, TH
3beckwith-wiedemann syndrome30.3H19, KCNQ1OT1, WT1, IGF2, SMPD1, TH
4adenoma30.1H19, IGF2, CDKN1C, INSR, SMPD1
5pheochromocytoma30.0TH, INSR, H19
6mental retardation29.9TH, WT1
7adrenocortical carcinoma29.9CDKN1C, IGF2, H19
8gigantism29.7H19
9mesoblastic nephroma29.7IGF2, WT1
10silver-russell syndrome29.7H19, IGF2, CDKN1C
11adrenal adenoma29.7CDKN1C, IGF2, H19
12breast cancer13.3H19, AKT2, IGF2, PTEN
13diabetes mellitus13.3AKT2, INSR, ABCC8
14ovarian cancer13.3WT1, AKT2, INSR, PTEN
15pancreatic cancer13.3AKT2, CDKN1C
16prostate cancer13.3AKT2, IGF2, INSR, TH, PTEN
17squamous cell carcinoma13.3H19, AKT2, CDKN1C, INSR, PTEN, SMPD1
18thymoma13.3AKT2
19type 2 diabetes mellitus13.3INSR, AKT2
20insulin resistance13.3AKT2, IGF2, INSR, ABCC8, TH
21n syndrome10.4
22medullary sponge kidney10.3
23klippel-trenaunay syndrome10.3
24hemimegalencephaly10.3
25hemi 3 syndrome10.3
26proteus syndrome10.2
27hemihypertrophy intestinal web corneal opacity10.2
28epidermal nevus10.2
29aniridia10.1
30hypoinsulinemic hypoglycemia with hemihypertrophy10.1
31focal dermal hypoplasia10.1
32weber syndrome10.1
33proteus syndrome, somatic10.1
34clapo syndrome10.1
35wagr syndrome10.0WT1
36neuroblastoma10.0TH
37myeloid leukemia10.0WT1
38multiple endocrine neoplasia10.0TH
39fetal macrosomia10.0IGF2
40pituitary adenoma10.0ABCC8
41gestational trophoblastic neoplasm10.0CDKN1C
42paraganglioma10.0TH
43medulloblastoma10.0IGF2
44familial adenomatous polyposis10.0SMPD1
45atherosclerosis10.0SMPD1
46nephroblastoma10.0CDKN1C, WT1
47hydrocephalus10.0AFP
48testicular cancer10.0AFP
49embryonal cancer10.0H19, IGF2
50gestational trophoblastic tumor10.0H19, CDKN1C

Graphical network of the top 20 diseases related to Hemihypertrophy:



Diseases related to hemihypertrophy

Clinical Features for Hemihypertrophy

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

235000

Clinical synopsis from OMIM:

235000

Symptoms:

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

Drugs & Therapeutics for Hemihypertrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Hemihypertrophy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hemihypertrophy:

33
Brain, Cortex, Heart, Skeletal muscle, Small intestine, Colon, Kidney, Liver, Breast, Skin, Cervix, Adrenal cortex

Animal Models for Hemihypertrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hemihypertrophy:

37 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.0SMPD1, TH, INSR
2MP:00053698.9H19, WT1, IGF2, INSR
3MP:00030128.7H19, WT1, IGF2, ABCC8, TH
4MP:00053798.6ABCC8, CDKN1C, AFP, WT1, H19
5MP:00020068.6H19, AFP, TH, PTEN
6MP:00028738.3KCNQ1OT1, H19, WT1, CDKN1C, TH, PTEN
7MP:00053808.2KCNQ1OT1, H19, WT1, IGF2, CDKN1C, PTEN
8MP:00053888.0KCNQ1OT1, IGF2, INSR, TH, PTEN, SMPD1
9MP:00053898.0WT1, AFP, CDKN1C, INSR, PTEN
10MP:00053977.8WT1, IGF2, CDKN1C, INSR, PTEN, SMPD1
11MP:00053677.8KCNQ1OT1, H19, WT1, IGF2, CDKN1C, INSR
12MP:00053877.7IGF2, CDKN1C, INSR, PTEN, SMPD1, WT1
13MP:00053857.5H19, WT1, IGF2, CDKN1C, INSR, TH
14MP:00053707.4KCNQ1OT1, H19, WT1, IGF2, INSR, TH
15MP:00053847.0WT1, H19, KCNQ1OT1, IGF2, CDKN1C, INSR
16MP:00053787.0WT1, H19, KCNQ1OT1, IGF2, CDKN1C, INSR
17MP:00053866.8AFP, IGF2, CDKN1C, INSR, TH, PTEN
18MP:00107686.4KCNQ1OT1, H19, WT1, AFP, IGF2, CDKN1C
19MP:00053765.9AFP, WT1, H19, KCNQ1OT1, IGF2, CDKN1C

Publications for Hemihypertrophy

Sources:
51PubMed
See all sources

Articles related to Hemihypertrophy:

(show top 50)    (show all 224)
idTitleAuthorsYear
1
Bilateral pheochromocytomas in a child who had hemihypertrophy and alteration in the VHL gene. (23327821)
2013
2
Massive neonatal adrenal enlargement due to cytomegaly, persistence of the transient cortex, and hyperplasia of the permanent cortex: findings in Cushing syndrome associated with hemihypertrophy. (22982888)
2012
3
A preterm infant with anaemia and left leg mild hemihypertrophy (case presentation). (22844975)
2012
4
Incidence of abdominal tumors in syndromic and idiopathic hemihypertrophy/isolated hemihyperplasia. (22411341)
2012
5
Lengthening of the normal tibia in a patient with hemihypertrophy caused by Klippel- Trenaunay-Weber syndrome: a case report. (22184171)
2011
6
Hallermann-Streiff syndrome with hemihypertrophy. (20964125)
2010
7
Renal agenesis in a child with ipsilateral hemihypertrophy. (20407912)
2010
8
A female with hemihypertrophy and chylous ascites - Klippel-Trenaunay syndrome or Proteus syndrome: a diagnostic dilemma. (16957479)
2006
9
Hemihypertrophy and the Chiari I malformation. (12686770)
2003
10
Mosaic trisomy 15 and hemihypertrophy. (11694227)
2001
11
Klippel-Trenaunay syndrome: frequency of cerebral and cerebellar hemihypertrophy on MRI. (10929301)
2000
12
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. (10749983)
2000
13
What syndrome is this? Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, facial hemihypertrophy and gyral malformation. (9496809)
1998
14
A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome? (9610002)
1998
15
Medullary sponge kidney associated with congenital hemihypertrophy. (8866402)
1996
16
Hemimegalencephaly, hemihypertrophy and vascular lesions. (7720742)
1995
17
A virilized patient with congenital hemihypertrophy. (7831177)
1994
18
Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases. (8313622)
1993
19
Osteoma cutis and hemihypertrophy: a case report. (1572225)
1992
20
Congenital hemihypertrophy and Wilms' tumor. (1333447)
1992
21
Epidermal nevus syndrome with hemimegalencephaly: a clinical report of a case with acanthosis nigricans-like nevi on the face and neck, hemimegalencephaly, and hemihypertrophy of the body. (2751068)
1989
22
Congenital hemihypertrophy, contralateral benign nephromegaly and duplex ureter. (3243648)
1988
23
Partial nephrectomy for Wilms' tumor in a child with hemihypertrophy. (2982085)
1985
24
Manifestations and natural history of idiopathic hemihypertrophy: a review of eleven cases. (6467671)
1984
25
Hemimegalencephaly with hemihypertrophy (Klippel-TrAcnaunay-Weber syndrome). (6310854)
1983
26
Renal cysts and congenital hemihypertrophy. (7073204)
1982
27
Congenital hemihypertrophy: oncogenic potential of the hypertrophic side. (7197138)
1981
28
Unilateral hydrocephalus associated with congenital hemihypertrophy. (77494)
1978
29
Congenital hemihypertrophy: a report of seven cases. (745356)
1978
30
Infantile hepatic hemangioendotheliomas associated with hemihypertrophy. (263514)
1977
31
Delayed onset of hemihypertrophy in Wilms' tumor. (184266)
1976
32
Focal nodular hyperplasia of the liver in a child with hemihypertrophy. (1271199)
1976
33
Medullary sponge kidney and congenital hemihypertrophy. Case report and review of the literature. (934409)
1976
34
Idiopathic congenital hemihypertrophy with associated ipsilateral benign nephromegaly. (164043)
1975
35
Congenital hemihypertrophy with indifference to pain. Report of a case and its possible implications. (4133239)
1974
36
Adrenocortical carcinoma and congenital hemihypertrophy. (4268699)
1973
37
Facial hemihypertrophy and cerebellar hemangioblastoma. (4796612)
1973
38
Congenital hemihypertrophy with abnormalities of the aortic arch, and of the skeletal, cutaneous and ocular systems. (4206715)
1973
39
Congenital heart disease in congenital hemihypertrophy. (5141736)
1971
40
Surgical correction of congenital facial hemihypertrophy: report of case. (5259492)
1969
41
Congenital hemihypertrophy. A review of 32 cases. (6029012)
1967
42
Adrenocortical neoplasms with hemihypertrophy, brain tumors, and other disorders. (6016796)
1967
43
Congenital hemihypertrophy of the face (facial giantism). (13916087)
1962
44
Syndrome of congenital hemihypertrophy and elevated urinary gonadotropins; occurrence in a seven-year-old boy. (13410393)
1957
45
Hemihypertrophy and Wilms's tumour. (13292237)
1955
46
Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. (13099907)
1953
47
A case of congenital hemihypertrophy showing variations in bone age and development. (13081171)
1953
48
Hemihypertrophy of the face; case report. (18144683)
1949
49
A review of the subject of congenital hemihypertrophy and a complete case report. (20265776)
1947
50
CONGENITAL HEMIHYPERTROPHY. (20321559)
1939

Genetic Variations for Hemihypertrophy

Expression for genes affiliated with Hemihypertrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 52QIAGEN, 38NCBI BioSystems Database, 54Reactome, 4Cell Signaling Technology, 53R&D Systems
See all sources

Compounds for genes affiliated with Hemihypertrophy

Sources:
45Novoseek, 50PharmGKB, 2BitterDB, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Hemihypertrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1butyrate4510.4TH
2nap-24510.3IGF2, H19
3apai4510.3IGF2, H19
4glutamate4510.1ABCC8
5hpaii459.8WT1, H19
6ly294002459.8IGF2, INSR
7ag 1024459.7INSR, IGF2
8steroid459.5H19, WT1, AFP
9azathioprine45 50 2 1112.5H19, IGF2, AFP
10cytosine45 2410.4WT1, H19, AFP
115-aza-2deoxycytidine459.4PTEN, CDKN1C, IGF2, H19
12paclitaxel45 50 1111.4AFP, PTEN, IGF2
13h2o2459.3AFP, PTEN, TH
14progestin459.2IGF2, INSR, TH
15gefitinib45 50 1111.2PTEN, INSR, IGF2
16rapamycin459.2IGF2, INSR, PTEN
17cisplatin45 50 60 1112.1IGF2, AFP, SMPD1, PTEN
18vincristine45 50 1111.1AFP, PTEN, WT1
19wortmannin459.1SMPD1, PTEN, INSR
20mannose 6-phosphate45 2410.1IGF2, INSR, SMPD1
21polyethylene glycol459.1INSR, IGF2, AFP
22etoposide45 50 60 1112.0WT1, AFP, IGF2, PTEN
23doxorubicin45 50 1110.9WT1, SMPD1, PTEN, AFP
24verapamil45 50 29 11 2412.8INSR, IGF2, TH
25zinc45 249.8AFP, H19, WT1, IGF2, SMPD1
26phosphatidylinositol458.8INSR, IGF2, PTEN, SMPD1
27cysteine458.8SMPD1, PTEN, IGF2, ABCC8, TH
28oligonucleotide458.7IGF2, WT1, PTEN, SMPD1, AFP
29ibmx45 29 6010.6IGF2, TH, INSR
30actinomycin d458.5IGF2, TH, AFP, INSR
31thymidine45 249.5INSR, IGF2, AFP, WT1, H19
32cholesterol45 29 11 2411.5CDKN1C, ABCC8, SMPD1, PTEN, AFP
33glucose458.4INSR, IGF2, ABCC8, PTEN, SMPD1
34agar458.4INSR, IGF2, AFP, PTEN, H19
35paraffin458.4WT1, AFP, IGF2, TH, PTEN, H19
36chloramphenicol45 2 1110.3IGF2, INSR, AFP, TH, WT1
37threonine458.3PTEN, WT1, AFP, INSR
38retinoic acid45 249.3H19, WT1, AFP, IGF2, TH, PTEN
39glutamine458.3IGF2, AFP, WT1, INSR, TH
40adp45 29 2410.3ABCC8, INSR, PTEN, SMPD1
41vitamin d458.2WT1, INSR, AFP, IGF2, PTEN
42glycogen45 249.2PTEN, ABCC8, INSR, IGF2, AFP
43lipid458.0PTEN, ABCC8, INSR, AFP, SMPD1
44arginine458.0INSR, SMPD1, PTEN, ABCC8, IGF2, WT1
45alanine457.9INSR, AFP, TH, PTEN, IGF2
46vegf457.8WT1, TH, AFP, IGF2, PTEN, INSR
47aspartate457.6TH, AFP, SMPD1, INSR, ABCC8, PTEN
48serine457.4SMPD1, PTEN, ABCC8, INSR, IGF2, AFP
49testosterone45 60 11 2410.3TH, PTEN, ABCC8, INSR, AFP, WT1
50tyrosine456.7INSR, IGF2, ABCC8, TH, WT1, H19

GO Terms for genes affiliated with Hemihypertrophy

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemihypertrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet