MCID: HMH002
MIFTS: 64

Hemihypertrophy malady

Fetal diseases, Cancer diseases, Rare diseases categories

Summaries for Hemihypertrophy

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 wilms tumor and rhabdomyosarcoma, and has symptoms including nephroblastoma/wilms tumor, asymmetric rib cage/thorax and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Hemihypertrophy is H19 (H19, imprinted maternally expressed transcript (non-protein coding)), and among its related pathways are FOXA2 and FOXA3 transcription factor networks and Glioblastoma Multiforme. The compounds nap-2 and apai have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and testes, and related mouse phenotypes are skeleton and embryogenesis.

Description from OMIM:48 235000

Aliases & Classifications for Hemihypertrophy

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Sources:
48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

hemihypertrophy 48 46 50
hemihyperplasia, isolated 63
isolated hemihyperplasia 50
hemicorporal hypertrophy 50
hemi-3 syndrome 63
hemi 3 syndrome 50


External Ids:

SNOMED-CT via Orphanet60 56007004
UMLS via Orphanet64 C0332890
OMIM48 235000
ICD10 via Orphanet27 Q87.3

Related Diseases for Hemihypertrophy

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18GeneCards, 19GeneDecks
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Diseases related to Hemihypertrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 229)
idRelated DiseaseScoreTop Affiliating Genes
1wilms tumor30.5IGF2, KCNQ1OT1, H19, CDKN1C, WT1, TH
2rhabdomyosarcoma30.2WT1, H19, IGF2
3beckwith-wiedemann syndrome30.2IGF2, CDKN1C, H19, KCNQ1OT1, SMPD1, ABCC8
4adenoma30.2CDKN1C, H19, SMPD1, IGF2, INSR
5pheochromocytoma30.1INSR, H19, TH
6adrenocortical carcinoma30.1H19, IGF2, CDKN1C
7hepatoblastoma30.0AFP, INSR, H19, CDKN1C, IGF2
8mesoblastic nephroma29.9WT1, IGF2
9adrenal adenoma29.8IGF2, CDKN1C, H19
10embryonal rhabdomyosarcoma29.8IGF2, WT1, H19
11sarcoma29.8WT1, IGF2, TH
12adenocarcinoma29.7PTEN, INSR, AKT2, AFP, WT1, CDKN1C
13breast cancer29.7AKT2, PTEN, IGF2, H19
14medullary sponge kidney10.4
15hemimegalencephaly10.3
16klippel-trenaunay syndrome10.3
17proteus syndrome10.2
18hemihypertrophy intestinal web corneal opacity10.2
19epidermal nevus10.2
20retinal telangiectasia10.1
21retinitis10.1
22aniridia10.1
23cerebritis10.1
24hypoinsulinemic hypoglycemia with hemihypertrophy10.1
25wagr syndrome10.1WT1
26fetal macrosomia10.1IGF2
27hyperinsulinemic hypoglycemia10.1ABCC8
28gestational trophoblastic tumor10.1H19, CDKN1C
29silver-russell syndrome10.1IGF2, H19
30embryonal cancer10.1IGF2, H19
31focal segmental glomerulosclerosis10.1WT1, CDKN1C
32clear cell sarcoma10.1IGF2, WT1
33focal dermal hypoplasia10.1
34lipomatosis10.1
35proteus syndrome, somatic10.1
36clapo syndrome10.1
37rhabdoid tumor10.1WT1, IGF2
38nephroblastoma10.1WT1, CDKN1C
39sertoli-leydig cell tumor10.1AFP, WT1
40congenital nephrotic syndrome finnish type10.1AFP, WT1
41gangliocytoma10.1PTEN
42dysgerminoma10.1WT1, AFP
43alveolar rhabdomyosarcoma10.1TH, WT1
44gestational trophoblastic neoplasm10.1CDKN1C, H19, IGF2
45chronic myeloid leukemia10.0CDKN1C, WT1, H19
46omphalocele10.0CDKN1C, AFP, IGF2
47seminoma10.0AFP, H19, IGF2
48leiomyosarcoma10.0IGF2, WT1
49polycystic ovary syndrome10.0IGF2, INSR
50teratoma10.0AFP, H19

Graphical network of the top 20 diseases related to Hemihypertrophy:



Diseases related to hemihypertrophy

Symptoms for Hemihypertrophy

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

235000

Clinical features from OMIM:

235000

Symptoms:

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

Drugs & Therapeutics for Hemihypertrophy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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Sources:
34MalaCards
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MalaCards organs/tissues related to Hemihypertrophy:

34
Bone, Kidney, Testes, Liver, Heart, Cervix, Skin, Brain, Cortex, Colon, Breast, Small intestine

Animal Models for Hemihypertrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hemihypertrophy:

38 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.7CDKN1C, H19, AKT2, PTEN, IGF2
2MP:00053808.6IGF2, KCNQ1OT1, PTEN, H19, CDKN1C, WT1
3MP:00030128.3ABCC8, TH, IGF2, AKT2, H19, WT1
4MP:00020068.2TH, AFP, PTEN, AKT2, H19
5MP:00053678.1IGF2, KCNQ1OT1, INSR, PTEN, CDKN1C, WT1
6MP:00053818.0IGF2, INSR, PTEN, H19, CDKN1C
7MP:00053698.0IGF2, INSR, PTEN, AKT2, CDKN1C, WT1
8MP:00028738.0TH, KCNQ1OT1, PTEN, AKT2, H19, CDKN1C
9MP:00053977.6IGF2, INSR, SMPD1, PTEN, AKT2, CDKN1C
10MP:00053857.4TH, IGF2, INSR, PTEN, CDKN1C, WT1
11MP:00053877.4IGF2, INSR, SMPD1, PTEN, AKT2, CDKN1C
12MP:00053897.2IGF2, INSR, SMPD1, AFP, PTEN, AKT2
13MP:00053867.2TH, IGF2, INSR, SMPD1, AFP, PTEN
14MP:00053707.2TH, IGF2, KCNQ1OT1, INSR, SMPD1, PTEN
15MP:00036317.2TH, IGF2, INSR, SMPD1, PTEN, AKT2
16MP:00053886.9WT1, TH, IGF2, KCNQ1OT1, INSR, SMPD1
17MP:00053846.6TH, IGF2, KCNQ1OT1, INSR, SMPD1, PTEN
18MP:00053786.6INSR, KCNQ1OT1, IGF2, TH, SMPD1, PTEN
19MP:00053796.5ABCC8, TH, IGF2, INSR, AFP, PTEN
20MP:00053766.1INSR, IGF2, TH, ABCC8, SMPD1, AFP
21MP:00107686.0INSR, KCNQ1OT1, IGF2, TH, SMPD1, AFP

Publications for Hemihypertrophy

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Sources:
53PubMed
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Articles related to Hemihypertrophy:

(show top 50)    (show all 223)
idTitleAuthorsYear
1
Specimens from a Case of Right-sided Hemihypertrophy associated with Pubertas PrA (20914695)
cox.
2
Phakomatosis pigmentovascularis Ib with left-sided hemihypertrophy, interdigital gaps and scoliosis: a unique case of phakomatosis pigmentovascularis. (23039104)
2013
3
WT1 expression and hemihypertrophy in congenital mesoblastic nephroma. (19011477)
2008
4
A female with hemihypertrophy and chylous ascites - Klippel-Trenaunay syndrome or Proteus syndrome: a diagnostic dilemma. (16957479)
2006
5
Differences in dental and bone maturation in regions with or without hemihypertrophy in two patients with Russell-Silver syndrome. (16128247)
2005
6
Congenital hemihypertrophy with hemihypertrichosis. (16043924)
2005
7
Children with idiopathic hemihypertrophy and beckwith-wiedemann syndrome have different constitutional epigenotypes associated with wilms tumor. (16252245)
2005
8
A 4-month-old girl with hemihypertrophy. (15792108)
2005
9
Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. (14764948)
2004
10
Presence of vascular anomalies with congenital hemihypertrophy and Wilms tumor: an evidence-based evaluation. (12787266)
2003
11
Netherton syndrome associated with idiopathic congenital hemihypertrophy. (12220283)
2002
12
Mosaic trisomy 15 and hemihypertrophy. (11694227)
2001
13
A child with adrenocortical adenoma accompanied by congenital hemihypertrophy: report of a case. (11039721)
2000
14
Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvis. (9917751)
1999
15
What syndrome is this? Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, facial hemihypertrophy and gyral malformation. (9496809)
1998
16
Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. (9781907)
1998
17
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
18
Nevus depigmentosus associated with hemihypertrophy of the limbs. (7501569)
1995
19
Hemimegalencephaly, hemihypertrophy and vascular lesions. (7720742)
1995
20
Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases. (8313622)
1993
21
Twelve cases with hemihypertrophy: etiology and follow up. (8357562)
1993
22
Cystic adrenal masses in the neonate associated with hemihypertrophy and the relation to the Beckwith-Wiedemann syndrome. (1861304)
1991
23
Cranial hemihypertrophy and neurodevelopmental prognosis. (2325089)
1990
24
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
25
Adrenocortical carcinoma in a child with congenital hemihypertrophy. (2750343)
1989
26
Partial nephrectomy for Wilms' tumor in a child with hemihypertrophy. (2982085)
1985
27
Congenital facial hemihypertrophy: report of a case with airway compromise. (4077551)
1985
28
Infantile idiopathic scoliosis in hemihypertrophy with haemangiomatosis. (6094802)
1984
29
Congenital hemihypertrophy. Tendency to association with other abnormalities and/or tumors. (6220211)
1983
30
A thoracic benign mesenchymoma in association with hemihypertrophy. (6274186)
1981
31
Familial facial asymmetry (autosomal dominant hemihypertrophy?). (6935582)
1980
32
Two cases of Beckwith-Wiedemann syndrome, one with hemihypertrophy. (6932218)
1980
33
Hemihypertrophy with unilateral folliculitis and acne. (161466)
1979
34
Unilateral hydrocephalus associated with congenital hemihypertrophy. (77494)
1978
35
Myeloblastic leukemia and congenital hemihypertrophy. (192872)
1977
36
Macrodactyly, hemihypertrophy, and connective tissue nevi: report of a new syndrome and review of the literature. (993918)
1976
37
Hemihypertrophy in a boy with renal polycystic disease: varied patterns of presentation of renal polycystic disease in his family. (1012806)
1976
38
Congenital asymmetry (hemihypertrophy) and abdominal disease: radiological features in 9 cases. (168617)
1975
39
Wilms's tumor in three children of a woman with congenital hemihypertrophy. (4364969)
1974
40
Congenital heart disease in congenital hemihypertrophy. (5141736)
1971
41
Epithelial hepatoblastoma associated with congenital hemihypertrophy and cystathioninuria: presentation of a case. (4316375)
1970
42
Congenital hemihypertrophy with neurofibromatosis. (4978359)
1969
43
Congenital hemihypertrophy. (5354918)
1969
44
Congenital partial hemihypertrophy of the face. Report of three cases. (5241846)
1968
45
Congenital hemihypertrophy. Report of two cases and review of the literature. (5938488)
1966
46
Congenital hemihypertrophy and malignancy. (13967519)
1963
47
Congenital hemihypertrophy. Review of the literature and report of a case with special emphasis on oral manifestations. (13949299)
1962
48
Hemihypertrophy left side of body; congenital lymphatic oedema of left arm; radiological enlargement of heart shadow. (14395215)
1955
49
A review of the subject of congenital hemihypertrophy and a complete case report. (20265776)
1947
50
Hemihypertrophy. (19972767)
1908

Variations for Hemihypertrophy

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Expression for genes affiliated with Hemihypertrophy

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Sources:
2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 54QIAGEN, 61Thomson Reuters, 13EMD Millipore, 62Tocris Bioscience, 56Reactome, 5Cell Signaling Technology, 55R&D Systems, 31KEGG
See all sources

Pathways related to Hemihypertrophy according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ABCC8, AFP
29.3PTEN, IGF2, AKT2
3
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
9.3IGF2, PTEN, AKT2
49.2AKT2, INSR
5
Show member pathways
Insulin Pathway39
9.2AKT2, INSR
6
Show member pathways
9.0IGF2, INSR, AKT2
7
Show member pathways
8.9PTEN, IGF2, SMPD1, AKT2
88.7INSR, AKT2, PTEN
98.7AKT2, PTEN, INSR
10
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
8.7AKT2, INSR, PTEN
11
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
8.7AKT2, PTEN, INSR
12
Show member pathways
DNA damage response (only ATM dependent)39
Wnt Signaling Pathway and Pluripotency39
8.7INSR, PTEN, AKT2
138.7INSR, AKT2, PTEN
14
Show member pathways
8.5IGF2, AKT2, INSR, PTEN
15
Show member pathways
8.5IGF2, INSR, PTEN, AKT2
16
Show member pathways
8.5INSR, IGF2, PTEN, AKT2
17
Show member pathways
8.4TH, IGF2, INSR, AKT2

Compounds for genes affiliated with Hemihypertrophy

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Sources:
46Novoseek, 3BitterDB, 52PharmGKB, 12DrugBank, 25HMDB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Hemihypertrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
1nap-24610.3H19, IGF2
2apai4610.2IGF2, H19
3azathioprine46 3 52 1212.5IGF2, H19, AFP
45-aza-2deoxycytidine469.5CDKN1C, PTEN, H19, IGF2
5cytosine46 2510.5WT1, AFP, H19
6ag 1024469.5IGF2, INSR
7gefitinib46 52 1211.2INSR, PTEN, IGF2
8etoposide46 52 62 1212.2WT1, PTEN, AFP, IGF2
9paclitaxel46 52 1211.1PTEN, AFP, IGF2, AKT2
10polyethylene glycol469.1AFP, INSR, IGF2
11vincristine46 52 1211.1WT1, AFP, PTEN
12butyrate469.0TH, WT1, IGF2, AFP
13progestin469.0TH, IGF2, INSR
14zinc46 2510.0SMPD1, H19, IGF2, AFP, WT1
15doxorubicin46 52 1211.0SMPD1, AFP, PTEN, WT1
16mannose 6-phosphate46 259.9INSR, SMPD1, IGF2
17steroid468.9WT1, H19, IGF2, AFP, PTEN
18cisplatin46 52 62 1211.8AKT2, AFP, PTEN, SMPD1, IGF2
19rapamycin468.8AKT2, PTEN, INSR, IGF2
20verapamil46 30 52 25 1212.8TH, IGF2, INSR
21wortmannin468.7AKT2, PTEN, SMPD1, INSR
22cholesterol46 30 25 1211.7AFP, ABCC8, SMPD1, CDKN1C, PTEN
23thymidine46 259.6IGF2, INSR, AFP, H19, WT1
24agar468.5PTEN, AFP, INSR, IGF2, H19
25oligonucleotide468.5AKT2, PTEN, AFP, SMPD1, WT1, IGF2
26phosphatidylinositol468.4IGF2, AKT2, PTEN, SMPD1, INSR
27actinomycin d468.4IGF2, AFP, TH, INSR
28vitamin d468.4IGF2, PTEN, WT1, INSR, AFP
29paraffin468.4AFP, WT1, IGF2, PTEN, H19, TH
30chloramphenicol46 3 52 1211.3TH, INSR, IGF2, AFP, WT1
31retinoic acid46 259.3H19, TH, WT1, AFP, IGF2, PTEN
32glutamine468.3WT1, TH, IGF2, INSR, AFP
33ly294002468.2PTEN, TH, AKT2, INSR, IGF2
34threonine468.1WT1, AKT2, PTEN, AFP, INSR
35adp46 30 2510.1AKT2, INSR, ABCC8, SMPD1, PTEN
36arginine468.1WT1, ABCC8, IGF2, INSR, SMPD1, PTEN
37glutamate468.1IGF2, TH, ABCC8, AFP, INSR
38alanine468.0AFP, IGF2, INSR, PTEN, TH
39glycogen46 258.9IGF2, AKT2, INSR, PTEN, ABCC8, AFP
40h2o2467.8PTEN, SMPD1, AFP, INSR, TH, IGF2
41lipid467.8INSR, AKT2, PTEN, ABCC8, SMPD1, AFP
42vegf467.8TH, INSR, IGF2, PTEN, AFP, WT1
43oxygen46 258.7TH, AFP, ABCC8, SMPD1, PTEN
44aspartate467.6PTEN, AFP, SMPD1, INSR, TH, ABCC8
45glucose467.6IGF2, INSR, ABCC8, AFP, PTEN, AKT2
46cysteine467.5INSR, WT1, PTEN, SMPD1, IGF2, TH
47estrogen467.4AKT2, PTEN, AFP, INSR, IGF2, TH
48testosterone46 62 25 1210.3INSR, ABCC8, TH, IGF2, AFP, PTEN
49serine467.2AKT2, ABCC8, IGF2, INSR, SMPD1, AFP
50tyrosine466.3TH, IGF2, INSR, SMPD1, AFP, PTEN

GO Terms for genes affiliated with Hemihypertrophy

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17Gene Ontology
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Cellular components related to Hemihypertrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic side of plasma membraneGO:0098989.3PTEN, TH

Biological processes related to Hemihypertrophy according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1response to nutrient levelsGO:0316679.8IGF2, TH
2exocrine pancreas developmentGO:0310179.6INSR, IGF2
3response to zinc ionGO:0100439.5PTEN, TH
4positive regulation of mitosisGO:0458409.5INSR, IGF2
5positive regulation of glucose importGO:0463269.4INSR, AKT2
6memoryGO:0076139.4TH, IGF2, PTEN
7response to estradiolGO:0323559.3PTEN, IGF2, TH
8response to drugGO:0424939.3PTEN, SMPD1, IGF2
9response to ethanolGO:0454719.3TH, IGF2, PTEN
10positive regulation of glycogen biosynthetic processGO:0457259.3AKT2, INSR, IGF2
11social behaviorGO:0351769.2PTEN, TH
12positive regulation of protein phosphorylationGO:0019349.2IGF2, INSR, AKT2
13insulin receptor signaling pathwayGO:0082869.2AKT2, INSR, IGF2
14heart developmentGO:0075079.2TH, PTEN, WT1
15heart morphogenesisGO:0030079.0TH, INSR
16cellular response to growth factor stimulusGO:0713638.7INSR, TH

Molecular functions related to Hemihypertrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:0051599.1INSR, IGF2
2protein bindingGO:0055156.8IGF2, INSR, SMPD1, PTEN, AKT2, CDKN1C

Products for genes affiliated with Hemihypertrophy

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Hemihypertrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet