MCID: HMH002
MIFTS: 64

Hemihypertrophy malady

Fetal diseases, Cancer diseases, Rare diseases categories
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Summaries for Hemihypertrophy

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Wikipedia:65 Hemihypertrophy is a condition in which one side of the body or a part of one side is larger than the... more...

MalaCards based summary: Hemihypertrophy, also known as hemi 3 syndrome, is related to rhabdomyosarcoma and adrenocortical carcinoma, 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 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:46 235000

Aliases & Classifications for Hemihypertrophy

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Sources:
46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hemihypertrophy, Aliases & Descriptions:

Name: Hemihypertrophy 46 44 48
Hemi 3 Syndrome 48 62
Hemihyperplasia, Isolated 62
 
Isolated Hemihyperplasia 48
Hemicorporal Hypertrophy 48


Classifications:

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


External Ids:

OMIM46 235000
ICD10 via Orphanet26 Q87.3
UMLS via Orphanet63 C0332890

Related Diseases for Hemihypertrophy

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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
1rhabdomyosarcoma30.4IGF2, H19, WT1
2adrenocortical carcinoma30.4CDKN1C, H19, IGF2
3mesoblastic nephroma30.3WT1, IGF2
4wilms tumor30.2TH, IGF2, KCNQ1OT1, H19, CDKN1C, WT1
5pheochromocytoma30.2H19, INSR, TH
6adrenal adenoma30.2IGF2, H19, CDKN1C
7embryonal rhabdomyosarcoma30.1IGF2, H19, WT1
8adenoma30.0IGF2, INSR, SMPD1, H19, CDKN1C
9hepatoblastoma29.8IGF2, INSR, AFP, H19, CDKN1C
10sarcoma29.8WT1, IGF2, TH
11breast cancer29.5IGF2, PTEN, AKT2, H19
12beckwith-wiedemann syndrome29.5TH, ABCC8, IGF2, KCNQ1OT1, WT1, CDKN1C
13adenocarcinoma29.0INSR, AFP, PTEN, AKT2, H19, CDKN1C
14wagr syndrome10.5WT1
15fetal macrosomia10.5IGF2
16hyperinsulinemic hypoglycemia10.5ABCC8
17gestational trophoblastic tumor10.4H19, CDKN1C
18medullary sponge kidney10.4
19silver-russell syndrome10.4H19, IGF2
20embryonal cancer10.4H19, IGF2
21hemimegalencephaly10.4
22focal segmental glomerulosclerosis10.3CDKN1C, WT1
23clear cell sarcoma10.3WT1, IGF2
24rhabdoid tumor10.3WT1, IGF2
25nephroblastoma10.3CDKN1C, WT1
26sertoli-leydig cell tumor10.3AFP, WT1
27congenital nephrotic syndrome finnish type10.3WT1, AFP
28gangliocytoma10.3PTEN
29dysgerminoma10.3AFP, WT1
30klippel-trenaunay syndrome10.3
31alveolar rhabdomyosarcoma10.3TH, WT1
32gestational trophoblastic neoplasm10.3CDKN1C, H19, IGF2
33adrenal cortical adenoma10.2IGF2, H19, CDKN1C
34epidermal nevus10.2
35chronic myeloid leukemia10.2H19, CDKN1C, WT1
36proteus syndrome10.2
37hemihypertrophy intestinal web corneal opacity10.2
38hypoinsulinemic hypoglycemia with hemihypertrophy10.2
39omphalocele10.2CDKN1C, AFP, IGF2
40seminoma10.2H19, AFP, IGF2
41leiomyosarcoma10.2WT1, IGF2
42aniridia10.2
43cerebritis10.2
44retinal telangiectasia10.1
45retinitis10.1
46teratoma10.1AFP, H19
47polycystic ovary syndrome10.1IGF2, INSR
48addison's disease10.1WT1, TH
49peripheral primitive neuroectodermal tumor10.1TH, IGF2, WT1
50focal dermal hypoplasia10.1

Graphical network of the top 20 diseases related to Hemihypertrophy:



Diseases related to hemihypertrophy

Symptoms for Hemihypertrophy

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Symptoms by clinical synopsis from OMIM:

235000

Clinical features from OMIM:

235000

Symptoms:

48 (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 Hemihypertrophy:

(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 Hemihypertrophy

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Drug clinical trials:

Search ClinicalTrials for Hemihypertrophy

Search NIH Clinical Center for Hemihypertrophy

Genetic Tests for Hemihypertrophy

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Anatomical Context for Hemihypertrophy

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MalaCards organs/tissues related to Hemihypertrophy:

32
Bone, Kidney, Testes, Heart, Liver, Cervix, Brain, Cortex, Small intestine, Colon, Pancreas, Breast, Skin

Animal Models for Hemihypertrophy or affiliated genes

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MGI Mouse Phenotypes related to Hemihypertrophy:

36 (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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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
Recurrent benign adrenal pheochromocytomas associated with hemihypertrophy. (25136447)
2014
3
Letter to the editor: Pseudopapillary tumor of the pancreas in a child with hemihypertrophy and a history of Wilms tumor. (24962628)
2014
4
Phakomatosis pigmentovascularis Ib with left-sided hemihypertrophy, interdigital gaps and scoliosis: a unique case of phakomatosis pigmentovascularis. (23039104)
2013
5
WT1 expression and hemihypertrophy in congenital mesoblastic nephroma. (19011477)
2008
6
Differences in dental and bone maturation in regions with or without hemihypertrophy in two patients with Russell-Silver syndrome. (16128247)
2005
7
Congenital hemihypertrophy with hemihypertrichosis. (16043924)
2005
8
Children with idiopathic hemihypertrophy and beckwith-wiedemann syndrome have different constitutional epigenotypes associated with wilms tumor. (16252245)
2005
9
A 4-month-old girl with hemihypertrophy. (15792108)
2005
10
Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. (14764948)
2004
11
Presence of vascular anomalies with congenital hemihypertrophy and Wilms tumor: an evidence-based evaluation. (12787266)
2003
12
Netherton syndrome associated with idiopathic congenital hemihypertrophy. (12220283)
2002
13
Mosaic trisomy 15 and hemihypertrophy. (11694227)
2001
14
A child with adrenocortical adenoma accompanied by congenital hemihypertrophy: report of a case. (11039721)
2000
15
Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvis. (9917751)
1999
16
What syndrome is this? Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, facial hemihypertrophy and gyral malformation. (9496809)
1998
17
Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. (9781907)
1998
18
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
19
Nevus depigmentosus associated with hemihypertrophy of the limbs. (7501569)
1995
20
Hemimegalencephaly, hemihypertrophy and vascular lesions. (7720742)
1995
21
Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases. (8313622)
1993
22
Twelve cases with hemihypertrophy: etiology and follow up. (8357562)
1993
23
Cystic adrenal masses in the neonate associated with hemihypertrophy and the relation to the Beckwith-Wiedemann syndrome. (1861304)
1991
24
Cranial hemihypertrophy and neurodevelopmental prognosis. (2325089)
1990
25
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
26
Adrenocortical carcinoma in a child with congenital hemihypertrophy. (2750343)
1989
27
Partial nephrectomy for Wilms' tumor in a child with hemihypertrophy. (2982085)
1985
28
Infantile idiopathic scoliosis in hemihypertrophy with haemangiomatosis. (6094802)
1984
29
Hemimegalencephaly with hemihypertrophy (Klippel-TrAcnaunay-Weber syndrome). (6310854)
1983
30
Congenital hemihypertrophy. Tendency to association with other abnormalities and/or tumors. (6220211)
1983
31
A thoracic benign mesenchymoma in association with hemihypertrophy. (6274186)
1981
32
Familial facial asymmetry (autosomal dominant hemihypertrophy?). (6935582)
1980
33
Two cases of Beckwith-Wiedemann syndrome, one with hemihypertrophy. (6932218)
1980
34
Hemihypertrophy with unilateral folliculitis and acne. (161466)
1979
35
Unilateral hydrocephalus associated with congenital hemihypertrophy. (77494)
1978
36
Myeloblastic leukemia and congenital hemihypertrophy. (192872)
1977
37
Macrodactyly, hemihypertrophy, and connective tissue nevi: report of a new syndrome and review of the literature. (993918)
1976
38
Hemihypertrophy in a boy with renal polycystic disease: varied patterns of presentation of renal polycystic disease in his family. (1012806)
1976
39
Congenital asymmetry (hemihypertrophy) and abdominal disease: radiological features in 9 cases. (168617)
1975
40
Wilms's tumor in three children of a woman with congenital hemihypertrophy. (4364969)
1974
41
Congenital heart disease in congenital hemihypertrophy. (5141736)
1971
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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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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Pathways related to Hemihypertrophy according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5AFP, ABCC8
29.3IGF2, PTEN, AKT2
3
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
9.3AKT2, PTEN, IGF2
49.2INSR, AKT2
5
Show member pathways
Insulin Pathway37
9.2AKT2, INSR
6
Show member pathways
9.0IGF2, INSR, AKT2
7
Show member pathways
8.9AKT2, PTEN, SMPD1, IGF2
88.7INSR, PTEN, AKT2
98.7AKT2, PTEN, INSR
10
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
8.7INSR, PTEN, AKT2
11
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
8.7AKT2, PTEN, INSR
12
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
8.7AKT2, PTEN, INSR
138.7AKT2, PTEN, INSR
14
Show member pathways
8.5IGF2, INSR, PTEN, AKT2
15
Show member pathways
8.5AKT2, PTEN, INSR, IGF2
16
Show member pathways
8.5IGF2, INSR, PTEN, AKT2
17
Show member pathways
8.4AKT2, INSR, IGF2, TH

Compounds for genes affiliated with Hemihypertrophy

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Compounds related to Hemihypertrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
1nap-24410.3H19, IGF2
2apai4410.2H19, IGF2
3azathioprine44 2 50 1112.5H19, AFP, IGF2
45-aza-2deoxycytidine449.5CDKN1C, H19, PTEN, IGF2
5cytosine44 2410.5AFP, H19, WT1
6ag 1024449.5IGF2, INSR
7gefitinib44 50 1111.2PTEN, INSR, IGF2
8etoposide44 50 61 1112.2IGF2, AFP, PTEN, WT1
9paclitaxel44 50 1111.1IGF2, AFP, PTEN, AKT2
10polyethylene glycol449.1AFP, INSR, IGF2
11vincristine44 50 1111.1WT1, PTEN, AFP
12butyrate449.0WT1, AFP, IGF2, TH
13progestin449.0INSR, IGF2, TH
14zinc44 2410.0IGF2, SMPD1, AFP, H19, WT1
15doxorubicin44 50 1111.0SMPD1, AFP, PTEN, WT1
16mannose 6-phosphate44 249.9SMPD1, INSR, IGF2
17steroid448.9IGF2, AFP, PTEN, H19, WT1
18cisplatin44 50 61 1111.8IGF2, SMPD1, AFP, PTEN, AKT2
19rapamycin448.8AKT2, PTEN, INSR, IGF2
20verapamil44 28 50 24 1112.8INSR, IGF2, TH
21wortmannin448.7INSR, SMPD1, PTEN, AKT2
22cholesterol44 28 24 1111.7ABCC8, SMPD1, AFP, PTEN, CDKN1C
23thymidine44 249.6WT1, H19, AFP, INSR, IGF2
24agar448.5IGF2, INSR, AFP, PTEN, H19
25oligonucleotide448.5IGF2, SMPD1, AFP, PTEN, AKT2, WT1
26phosphatidylinositol448.4IGF2, INSR, SMPD1, PTEN, AKT2
27actinomycin d448.4TH, IGF2, INSR, AFP
28vitamin d448.4IGF2, INSR, AFP, PTEN, WT1
29paraffin448.4TH, IGF2, AFP, PTEN, H19, WT1
30chloramphenicol44 2 50 1111.3TH, IGF2, INSR, AFP, WT1
31retinoic acid44 249.3TH, IGF2, AFP, PTEN, H19, WT1
32glutamine448.3TH, IGF2, INSR, AFP, WT1
33ly294002448.2TH, IGF2, INSR, PTEN, AKT2
34threonine448.1WT1, AKT2, PTEN, AFP, INSR
35adp44 28 2410.1AKT2, PTEN, SMPD1, INSR, ABCC8
36arginine448.1ABCC8, IGF2, INSR, SMPD1, PTEN, WT1
37glutamate448.1ABCC8, TH, IGF2, INSR, AFP
38alanine448.0TH, IGF2, INSR, AFP, PTEN
39glycogen44 248.9ABCC8, IGF2, INSR, AFP, PTEN, AKT2
40h2o2447.8TH, IGF2, INSR, SMPD1, AFP, PTEN
41lipid447.8ABCC8, INSR, SMPD1, AFP, PTEN, AKT2
42vegf447.8TH, IGF2, INSR, AFP, PTEN, WT1
43oxygen44 248.7ABCC8, TH, SMPD1, AFP, PTEN
44aspartate447.6ABCC8, TH, INSR, SMPD1, AFP, PTEN
45glucose447.6ABCC8, IGF2, INSR, SMPD1, AFP, PTEN
46cysteine447.5ABCC8, TH, IGF2, INSR, SMPD1, PTEN
47estrogen447.4TH, IGF2, INSR, AFP, PTEN, AKT2
48testosterone44 61 24 1110.3ABCC8, TH, IGF2, INSR, AFP, PTEN
49serine447.2ABCC8, IGF2, INSR, SMPD1, AFP, PTEN
50tyrosine446.3WT1, ABCC8, TH, IGF2, INSR, SMPD1

GO Terms for genes affiliated with Hemihypertrophy

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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
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet