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CHDTHP
MCID: CNG410
MIFTS: 52

Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly (CHDTHP)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Smell/Taste diseases
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Aliases & Classifications for Congenital Heart Defects, Hamartomas of Tongue, and...

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MalaCards integrated aliases for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

Name: Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 57 11 19 73
Ostravik-Lindemann-Solberg Syndrome 11 19 58 75
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome 11 19 58
Chdthp 57 11 73
Heart Defect - Tongue Hamartoma - Polysyndactyly Syndrome 28 5
Heart Defect, Tongue Hamartoma and Polysyndactyly 43 71
Orstavik Lindemann Solberg Syndrome 19 71
Hamartoma 71

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on reports of 1 female and 1 male patient (last curated september 2020)


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Smell/Taste diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111591
OMIM® 57 217085
SNOMED-CT 68 783738002
MESH via Orphanet 44 C535849
ICD10 via Orphanet 32 Q87.8
UMLS via Orphanet 72 C2931046
Orphanet 58 ORPHA1338
MedGen 40 C1857587
UMLS 71 C0018552 C1857587 C2931046
Sources

Summaries for Congenital Heart Defects, Hamartomas of Tongue, and...

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GARD: 19 A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15.

MalaCards based summary: Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly, also known as ostravik-lindemann-solberg syndrome, is related to multilocular clear cell renal cell carcinoma and hepatic angiomyolipoma. An important gene associated with Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly is WDPCP (WD Repeat Containing Planar Cell Polarity Effector), and among its related pathways/superpathways are Akt Signaling and Regulation of TP53 Activity. The drugs Everolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include tongue, heart and breast, and related phenotypes are patent ductus arteriosus and subvalvular aortic stenosis

Orphanet: 58 A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.

Disease Ontology: 11 A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has material basis in homozygous or compound heterozygous mutation in WDPCP on chromosome 2p15.

UniProtKB/Swiss-Prot: 73 A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta.

Wikipedia: 75 Ostravik-Lindemann-Solberg syndrome, also known as heart defect-tongue hamartoma-polysyndactyly syndrome... more...

More information from OMIM: 217085
Sources

Related Diseases for Congenital Heart Defects, Hamartomas of Tongue, and...

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Diseases related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 multilocular clear cell renal cell carcinoma 10.0 TSC2 TSC1
2 hepatic angiomyolipoma 10.0 TSC2 TSC1
3 liver lipoma 10.0 TSC2 TSC1
4 epithelioid type angiomyolipoma 10.0 TSC2 TSC1
5 uterus perivascular epithelioid cell tumor 10.0 TSC2 TSC1
6 perivascular epithelioid cell tumor 10.0 TSC2 TSC1
7 angiolipoma 10.0 TSC2 TSC1
8 heart cancer 10.0 TSC2 TSC1
9 kidney angiomyolipoma 10.0 TSC2 TSC1
10 cowden syndrome 4 10.0 TSC2 PTEN
11 focal cortical dysplasia, type ii 10.0 TSC2 TSC1
12 obstructive hydrocephalus 10.0 TSC2 TSC1
13 perivascular tumor 10.0 TSC2 TSC1
14 gangliocytoma 10.0 TSC2 PTEN
15 kidney benign neoplasm 10.0 TSC2 TSC1
16 corneal dystrophy, fleck 10.0 TSC2 TSC1
17 polycystic liver disease 1 with or without kidney cysts 10.0 TSC2 TSC1
18 birt-hogg-dube syndrome 10.0 TSC2 TSC1
19 skin lipoma 10.0 PTEN HMGA2
20 adult hepatocellular carcinoma 10.0 TSC2 TSC1
21 connective tissue benign neoplasm 9.9 TSC2 TSC1
22 respiratory system benign neoplasm 9.9 TSC2 PTEN
23 large intestine lipoma 9.9 PTEN HMGA2
24 lipoma of colon 9.9 PTEN HMGA2
25 ganglioneuroma 9.9 TSC1 PTEN
26 ganglioglioma 9.9 TSC2 TSC1
27 polycystic kidney disease 1 with or without polycystic liver disease 9.9 TSC2 TSC1
28 lymphangioleiomyomatosis 9.9 TSC2 TSC1
29 lipomatosis 9.8 PTEN HMGA2
30 lipomatosis, multiple 9.8 PTEN HMGA2
31 subependymal glioma 9.8 TSC2 TSC1 PTEN
32 benign ependymoma 9.8 TSC2 TSC1 PTEN
33 subependymal giant cell astrocytoma 9.8 TSC2 TSC1 PTEN
34 proteus syndrome 9.8 TSC2 TSC1 PTEN
35 peutz-jeghers syndrome 9.8 TSC2 TSC1 PTEN
36 low grade glioma 9.8 TSC2 TSC1 PTEN
37 central nervous system benign neoplasm 9.8 TSC2 TSC1 PTEN
38 spinal cord disease 9.8 TSC2 TSC1 PTEN
39 neurofibromatosis, type i 9.8 TSC2 TSC1 PTEN
40 cowden syndrome 9.8 TSC2 TSC1 PTEN
41 pilocytic astrocytoma 9.8 TSC1 PTEN
42 pervasive developmental disorder 9.8 TSC2 TSC1 PTEN
43 cowden syndrome 1 9.8 TSC2 TSC1 PTEN
44 inherited cancer-predisposing syndrome 9.8 TSC2 TSC1 PTEN
45 bap1 tumor predisposition syndrome 9.8 TSC2 TSC1 PTEN
46 hemangioma 9.7 TSC2 TSC1 PTEN
47 leiomyoma 9.7 TSC2 HMGA2
48 west syndrome 9.7 TSC2 TSC1 PTEN
49 fragile x syndrome 9.7 TSC2 TSC1 PTEN
50 uterine benign neoplasm 9.7 TSC2 PTEN HMGA2

Graphical network of the top 20 diseases related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:



Diseases related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly
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Symptoms & Phenotypes for Congenital Heart Defects, Hamartomas of Tongue, and...

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Human phenotypes related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

58 30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001643
2 subvalvular aortic stenosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001682
3 hamartoma of tongue 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011802
4 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000028
5 benign neoplasm of the central nervous system 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100835
6 2-3 finger syndactyly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001233
7 hypertelorism 30 Occasional (7.5%) HP:0000316
8 coarctation of aorta 30 HP:0001680
9 postaxial hand polydactyly 30 HP:0001162
10 broad hallux 30 HP:0010055
11 complete atrioventricular canal defect 30 HP:0001674

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Hands:
postaxial polydactyly
syndactyly, fingers 2-3

Neurologic Central Nervous System:
normal motor development
normal intellectual development

Head And Neck Ears:
hearing loss (in 1 male patient)

Head And Neck Mouth:
tongue polyps (hamartomas)
no tongue lobulation
no oral cleft

Genitourinary Kidneys:
normal kidneys

Cardiovascular Vascular:
coarctation of the aorta

Head And Neck Face:
frontal bossing (in 1 male patient)
microretrognathia (in 1 male patient)

Head And Neck Eyes:
hypertelorism (in 1 female patient)

Head And Neck Teeth:
tooth anomalies (in 1 male patient)

Skeletal Feet:
hallux duplication, bilateral
broad hallux, bilateral
syndactyly, toes 2-3

Clinical features from OMIM®:

217085 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.26 HMGA2 PTEN TSC1 TSC2
2 renal/urinary system MP:0005367 9.02 HMGA2 PTEN TSC1 TSC2 WDPCP
Sources

Drugs & Therapeutics for Congenital Heart Defects, Hamartomas of Tongue, and...

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Drugs for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 1, Phase 2 159351-69-6 70789204 6442177
2
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
5 Radiopharmaceuticals Phase 2
6 Fluorodeoxyglucose F18 Phase 2
7 Anti-Bacterial Agents Phase 2
8 Anti-Infective Agents Phase 2
9 Antifungal Agents Phase 2
10 Cola Phase 2
11 Antibiotics, Antitubercular Phase 2
12 Immunosuppressive Agents Phase 2
13 Immunologic Factors Phase 2
14
Trastuzumab Approved, Investigational Phase 1 180288-69-1
15
Dactolisib Investigational Phase 1 915019-65-7 11977753
16
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
17
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
18
Dactinomycin Approved, Investigational 50-76-0 2019 457193
19
Ifosfamide Approved 3778-73-2 3690
20
Doxorubicin Approved, Investigational 23214-92-8 31703
21
Palifosfamide Investigational 31645-39-3 100427
22 Anesthetics
23 Ophthalmic Solutions
24 Liposomal doxorubicin

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Randomized Double-Blind Controlled Trial of Everolimus in Individuals With PTEN Mutations (RAD001XUS257T) Completed NCT02991807 Phase 1, Phase 2 RAD001;Placebo
2 A Pilot Study of Sirolimus (Rapamycin, Rapamune[Registered Trademark]) in Subjects With Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN Completed NCT00971789 Phase 2 sirolimus
3 A Phase I/II, Multi-center, Open-label Study of BGT226, Administered Orally in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer Completed NCT00600275 Phase 1, Phase 2 BGT226
4 Sirolimus for Cowden Syndrome With Colon Polyposis Recruiting NCT04094675 Phase 2 Sirolimus
5 A Phase I/II, Multi-center, Open-label Study of BEZ235, Administered Orally on a Continuous Daily Dosing Schedule in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer Completed NCT00620594 Phase 1 BEZ235
6 Registering the Immune Response to a Flu Vaccination Challenge in PTEN Hamartoma Tumour Syndrome Unknown status NCT03630523
7 Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome Completed NCT03680924
8 Can we Prevent Recurrences in the Endoscopic Treatment of Endobronchial Hamartomas? Completed NCT03604055
9 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
10 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Recruiting NCT02461446
11 Intravitreal Injection of Sirolimus in the Treatment of Aggressive Retinal Astrocytic Hamartoma Recruiting NCT04707209 Sirolimus
12 International Pleuropulmonary Blastoma/DICER1 Registry (for PPB, DICER1 and Associated Conditions) Recruiting NCT03382158
13 DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
14 Liquid Biopsy Evaluation and Repository Development at Princess Margaret Recruiting NCT03702309

Search NIH Clinical Center for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly

Cochrane evidence based reviews: heart defect, tongue hamartoma and polysyndactyly

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Genetic Tests for Congenital Heart Defects, Hamartomas of Tongue, and...

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Genetic tests related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

# Genetic test Affiliating Genes
1 Heart Defect - Tongue Hamartoma - Polysyndactyly Syndrome 28 WDPCP
Sources

Anatomical Context for Congenital Heart Defects, Hamartomas of Tongue, and...

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Organs/tissues related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

MalaCards : Tongue, Heart, Breast, Colon, Smooth Muscle, Thyroid, Brain
Sources

Publications for Congenital Heart Defects, Hamartomas of Tongue, and...

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Articles related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

(show top 50) (show all 214)
# Title Authors PMID Year
1
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 57 5
27158779 2016
2
Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. 57 5
25427950 2015
3
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 57
28289185 2017
4
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. 5
20671153 2010
5
Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal. 57
8733055 1996
6
Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother. 57
1516223 1992
7
Wnt signaling may be activated in a subset of Peutz-Jeghers syndrome polyps closely correlating to LKB1 expression. 53
20428811 2010
8
Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective. 53
20490765 2010
9
TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. 53
19966866 2010
10
Allele-specific tumor spectrum in pten knockin mice. 53
20194734 2010
11
[Care continuity for patients with tuberous sclerosis complex (TSC) during transition from childhood to adulthood]. 53
20077806 2010
12
The tuberous sclerosis complex. 53
20146692 2010
13
Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1. 53
20389100 2010
14
Developmental defects and childhood cancer. 53
19812499 2009
15
PTEN hamartoma tumor syndrome: an overview. 53
19668082 2009
16
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. 53
19747374 2009
17
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. 53
19259131 2009
18
Genetics of the hamartomatous polyposis syndromes: a molecular review. 53
19381654 2009
19
A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles. 53
19357198 2009
20
Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. 53
19175396 2009
21
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. 53
19449422 2009
22
Pediatric juvenile polyposis syndromes: an update. 53
19463221 2009
23
A reliable cell-based assay for testing unclassified TSC2 gene variants. 53
18854862 2009
24
Missense mutations to the TSC1 gene cause tuberous sclerosis complex. 53
18830229 2009
25
Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review. 53
18978035 2009
26
Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities. 53
17990907 2009
27
PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects. 53
19177005 2009
28
Tuberin, p27 and mTOR in different cells. 53
18386114 2009
29
A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report. 53
19203369 2009
30
The molecular mechanisms that underlie the tumor suppressor function of LKB1. 53
19204826 2009
31
Hamartomatous polyposis syndromes. 53
19414148 2009
32
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view. 53
18986487 2008
33
PTEN hamartoma tumor syndromes. 53
18781191 2008
34
Role of TSC-mTOR pathway in diabetic nephropathy. 53
18926585 2008
35
Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. 53
18794875 2008
36
Hamartomatous polyposis syndromes. 53
18672141 2008
37
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. 53
18478223 2008
38
Glioma-like proliferation within tissues excised as tubers in patients with tuberous sclerosis complex. 53
18581125 2008
39
Rapamycin treatment for a child with germline PTEN mutation. 53
18431376 2008
40
Clinical and radiological findings related to tuberous sclerosis complex: a case report. 53
18473031 2008
41
WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase. 53
18381890 2008
42
Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas. 53
18292222 2008
43
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex. 53
18302728 2008
44
Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures. 53
18057317 2008
45
Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. 53
18252217 2008
46
Molecular insights into Peutz-Jeghers syndrome: two probands with a germline mutation of LKB1. 53
18600394 2008
47
Familial non-medullary thyroid carcinoma: an update. 53
18931957 2008
48
Possible mechanisms of disease development in tuberous sclerosis. 53
18177819 2008
49
Forehead plaque: a cutaneous marker of CNS involvement in tuberous sclerosis. 53
18187819 2008
50
Anti-EGFR antibody efficiently and specifically inhibits human TSC2-/- smooth muscle cell proliferation. Possible treatment options for TSC and LAM. 53
18958173 2008
Sources

Variations for Congenital Heart Defects, Hamartomas of Tongue, and...

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ClinVar genetic disease variations for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDPCP GRCh37/hg19 2p15(chr2:63521229-63572056)x1 CN LOSS Pathogenic
 1172573 GRCh37: 2:63521229-63572056
GRCh38:
2 WDPCP NM_015910.7(WDPCP):c.1809_1812+6del DEL Pathogenic
 1179146 GRCh37: 2:63540377-63540386
GRCh38: 2:63313242-63313251
3 WDPCP NM_015910.7(WDPCP):c.552_553del (p.Cys185fs) DEL Pathogenic
 162668 rs727503781 GRCh37: 2:63664635-63664636
GRCh38: 2:63437501-63437502
4 WDPCP NM_015910.7(WDPCP):c.526_527del (p.Leu176fs) DEL Pathogenic
 690307 rs1575420160 GRCh37: 2:63664661-63664662
GRCh38: 2:63437527-63437528
5 WDPCP NM_015910.7(WDPCP):c.1780G>A (p.Ala594Thr) SNV Uncertain Significance
 1172556 GRCh37: 2:63540415-63540415
GRCh38: 2:63313280-63313280
6 WDPCP NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile) SNV Uncertain Significance
 531816 rs201412509 GRCh37: 2:63609227-63609227
GRCh38: 2:63382092-63382092
7 WDPCP NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) SNV Uncertain Significance
 220911 rs202196322 GRCh37: 2:63714613-63714613
GRCh38: 2:63487479-63487479
8 WDPCP NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) SNV Uncertain Significance
 162669 rs200322968 GRCh37: 2:63719990-63719990
GRCh38: 2:63492856-63492856
9 WDPCP NM_015910.7(WDPCP):c.1624+24T>A SNV Benign
 1684223 GRCh37: 2:63609017-63609017
GRCh38: 2:63381882-63381882
10 WDPCP NM_015910.7(WDPCP):c.1915+13G>A SNV Benign
 95744 rs992214 GRCh37: 2:63486429-63486429
GRCh38: 2:63259294-63259294

UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

73
# Symbol AA change Variation ID SNP ID
1 WDPCP p.Asp54Asn VAR_073251 rs200322968

Sources

Expression for Congenital Heart Defects, Hamartomas of Tongue, and...

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Search GEO for disease gene expression data for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly.
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Pathways for Congenital Heart Defects, Hamartomas of Tongue, and...

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Pathways related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Akt Signaling 64
Show member pathways
 13.04 TSC2 TSC1 PTEN CCL26
2
Regulation of TP53 Activity 66
Show member pathways
 12.6 TSC2 TSC1 PTEN
3
PI3K-Akt signaling pathway 74
Show member pathways
 12.59 TSC2 TSC1 PTEN
4
Translation Insulin regulation of translation 22
Show member pathways
 12.41 TSC2 TSC1 PTEN
5
Malignant pleural mesothelioma 74
12.35 TSC2 TSC1 PTEN
6
Angiopoietin-like protein 8 regulatory pathway 74
Show member pathways
 12.19 TSC2 TSC1 PTEN
7
Development IGF-1 receptor signaling 22
Show member pathways
 11.93 TSC2 TSC1 PTEN
8
MAPK Signaling: Mitogens 65
Show member pathways
 11.88 TSC2 TSC1 PTEN
9
T-cell activation SARS-CoV-2 74
Show member pathways
 11.81 TSC2 TSC1 PTEN
10
Integrated breast cancer pathway 74
11.79 TSC2 TSC1 PTEN
11
mTOR Signaling 65
11.72 TSC2 TSC1 PTEN
12
Thermogenesis 74
Show member pathways
 11.68 TSC2 TSC1
13
Fragile X syndrome 74
Show member pathways
 11.64 TSC2 TSC1 PTEN
14
p53 transcriptional gene network 74
11.58 TSC2 PTEN
15
Thyroid hormones production and peripheral downstream signaling effects 74
11.52 TSC2 TSC1
16
PI3K / Akt Signaling 3
11.46 TSC2 TSC1 PTEN
17
DYRK1A 74
11.37 TSC2 TSC1
18
TP53 Regulates Metabolic Genes 66
11.37 TSC2 TSC1 PTEN
19
Clear cell renal cell carcinoma pathways 74
11.26 TSC2 TSC1 PTEN
20
mTOR signaling pathway 61
11.24 TSC2 TSC1
21
LKB1 signaling events 61
11.12 TSC2 TSC1
22
Head and neck squamous cell carcinoma 74
11 TSC2 TSC1 PTEN
23
PI3K-AKT-mTOR signaling pathway and therapeutic opportunities 74
10.99 PTEN TSC2
24
PI3K/AKT/mTOR - vitamin D3 signaling 74
10.84 TSC2 TSC1
25
BDNF-TrkB signaling 74
Show member pathways
 10.58 TSC2 TSC1 PTEN
Sources

GO Terms for Congenital Heart Defects, Hamartomas of Tongue, and...

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Cellular components related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 postsynaptic density GO:0014069 9.35 TSC2 TSC1 PTEN
2 TSC1-TSC2 complex GO:0033596 8.92 TSC2 TSC1

Biological processes related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cell cycle GO:0051726 9.8 TSC2 TSC1 PTEN
2 protein kinase B signaling GO:0043491 9.76 TSC2 PTEN
3 negative regulation of protein kinase B signaling GO:0051898 9.73 TSC2 PTEN
4 positive regulation of macroautophagy GO:0016239 9.67 TSC2 TSC1
5 myelination GO:0042552 9.65 TSC1 PTEN
6 negative regulation of TOR signaling GO:0032007 9.62 TSC2 TSC1
7 negative regulation of cellular senescence GO:2000773 9.56 PTEN HMGA2
8 regulation of focal adhesion assembly GO:0051893 9.33 TSC1 WDPCP
9 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.26 PTEN TSC2
10 negative regulation of cell size GO:0045792 8.92 TSC1 PTEN

Molecular functions related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Hsp90 protein binding GO:0051879 8.92 TSC2 TSC1
Sources

Sources for Congenital Heart Defects, Hamartomas of Tongue, and...

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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