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CHDTHP
MCID: CNG410
MIFTS: 60

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

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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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 12 20 72 36 29 6
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome 12 20 58
Ostravik-Lindemann-Solberg Syndrome 12 20 58
Hamartoma 44 17 70
Chdthp 57 12 72
Heart Defect, Tongue Hamartoma and Polysyndactyly 44 70
Orstavik Lindemann Solberg Syndrome 20 70

Characteristics:

Orphanet epidemiological data:

58
heart defect-tongue hamartoma-polysyndactyly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
three patients reported, one with a wdpcp mutation (last curated january 2015)


HPO:

31
congenital heart defects, hamartomas of tongue, and polysyndactyly:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Smell/Taste diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111591
OMIM® 57 217085
KEGG 36 H02455
SNOMED-CT 67 783738002
MESH via Orphanet 45 C535849
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C2931046
Orphanet 58 ORPHA1338
MedGen 41 C1857587
UMLS 70 C0018552 C1857587 C2931046
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Summaries for Congenital Heart Defects, Hamartomas of Tongue, and...

About this section
KEGG : 36 Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP), also known as Ostravik-Lindemann-Solberg syndrome, is a rare, autosomal recessive disorder characterized by coarctation of the aorta with or without atrioventricular canal, hamartomas of the tongue, and polysyndactyly. CHDTHP patients with mutations in WDPCP have been identified. WDPCP is a gene that regulates planar cell polarity and ciliogenesis.

MalaCards based summary : Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly, also known as heart defect-tongue hamartoma-polysyndactyly syndrome, is related to cowden syndrome 1 and cowden syndrome. 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 PI3K-Akt signaling pathway and Regulation of TP53 Activity. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include liver, tongue and lung, and related phenotypes are patent ductus arteriosus and subvalvular aortic stenosis

Disease Ontology : 12 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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1338 Definition 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.

UniProtKB/Swiss-Prot : 72 Congenital heart defects, hamartomas of tongue, and polysyndactyly: 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.

More information from OMIM: 217085
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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 869)
# Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 32.0 TSC2 TSC1 STK11 PTEN
2 cowden syndrome 31.0 TSC2 TSC1 STK11 PTEN FLCN
3 peutz-jeghers syndrome 30.8 TSC2 TSC1 STK11 PTEN
4 hemangioma 30.5 TSC2 TSC1 PTEN
5 lipomatosis, multiple 30.4 PTEN HMGA2
6 pneumothorax 30.1 TSC1 FLCN
7 angiomatosis 30.1 TSC2 CCL26
8 lipomatosis 30.0 PTEN HMGA2
9 proteus syndrome 29.9 TSC2 TSC1 PTEN
10 west syndrome 29.9 TSC2 TSC1 PTEN
11 kidney angiomyolipoma 29.7 TSC2 TSC1 FLCN
12 angiomyolipoma 29.7 TSC2 TSC1 FLCN CCL26
13 focal epilepsy 29.7 TSC2 TSC1 PTEN
14 pneumothorax, primary spontaneous 29.7 FLCN CCL26
15 neurofibromatosis, type i 29.7 TSC2 TSC1 PTEN
16 skin tag 29.6 GLI3 FLCN
17 tuberous sclerosis 1 29.5 TSC2 TSC1 STK11 PTEN CCL26
18 hemimegalencephaly 29.4 TSC2 PTEN
19 ganglioglioma 29.3 TSC2 TSC1
20 cystic kidney disease 29.3 TSC2 TSC1 CCL26
21 benign ependymoma 29.3 TSC2 TSC1 PTEN
22 angiolipoma 29.3 TSC2 FLCN
23 kidney cancer 29.2 TSC2 PTEN FLCN
24 tuberous sclerosis 29.1 TSC2 TSC1 STK11 PTEN FLCN CCL26
25 tuberous sclerosis 2 28.8 TSC2 TSC1 STK11 PTEN
26 renal cell carcinoma, nonpapillary 28.7 TSC2 TSC1 PTEN FLCN CCL26
27 brain cancer 28.6 STK11 PTEN GLI3
28 pallister-hall syndrome 11.4
29 pallister-hall-like syndrome 11.4
30 congenital smooth muscle hamartoma 11.3
31 hepatic cystic hamartoma 11.3
32 basaloid follicular hamartoma 11.3
33 graham boyle troxell syndrome 11.2
34 nevus, epidermal 11.2
35 giant mammary hamartoma 11.2
36 combined hamartoma of the retina and retinal pigment epithelium 11.1
37 basaloid follicular hamartoma syndrome, generalized, autosomal dominant 11.1
38 angiomyomatous hamartoma 11.1
39 hamartoma, precalcaneal congenital fibrolipomatous 11.0
40 hypothalamic hamartomas 11.0
41 rhabdomyomatous mesenchymal hamartoma 11.0
42 congenital mesoblastic nephroma 11.0
43 juvenile polyposis syndrome 11.0
44 trichoepithelioma, multiple familial, 1 11.0
45 capillary hemangioma 10.9
46 linear hamartoma syndrome 10.9
47 odontoma 10.9
48 skin creases, congenital symmetric circumferential, 1 10.9
49 castleman disease 10.9
50 orofaciodigital syndrome vi 10.9

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 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001643
2 subvalvular aortic stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001682
3 hamartoma of tongue 58 31 hallmark (90%) Very frequent (99-80%) HP:0011802
4 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
5 benign neoplasm of the central nervous system 58 31 frequent (33%) Frequent (79-30%) HP:0100835
6 2-3 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001233
7 hypertelorism 31 occasional (7.5%) HP:0000316
8 coarctation of aorta 31 HP:0001680
9 postaxial hand polydactyly 31 HP:0001162
10 broad hallux 31 HP:0010055
11 complete atrioventricular canal defect 31 HP:0001674

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Hands:
postaxial polydactyly
syndactyly, fingers 2-3

Cardiovascular Heart:
congenital heart disease
atrioventricular canal

Head And Neck Eyes:
hypertelorism (in 1 patient)

Genitourinary Kidneys:
normal kidneys

Cardiovascular Vascular:
coarctation of the aorta

Neurologic Central Nervous System:
normal motor development
normal intellectual development

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

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

Clinical features from OMIM®:

217085 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 FLCN GLI3 PTEN STK11 TSC1 TSC2
2 cellular MP:0005384 9.87 FLCN GLI3 PTEN STK11 TSC1 TSC2
3 embryo MP:0005380 9.8 FLCN GLI3 PTEN STK11 TSC1 TSC2
4 neoplasm MP:0002006 9.55 FLCN PTEN STK11 TSC1 TSC2
5 renal/urinary system MP:0005367 9.5 FLCN GLI3 PTEN STK11 TSC1 TSC2
6 respiratory system MP:0005388 9.02 GLI3 PTEN STK11 TSC1 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 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
4
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
5 Fluorodeoxyglucose F18 Phase 2
6 Radiopharmaceuticals Phase 2
7 Antibiotics, Antitubercular Phase 2
8 Anti-Bacterial Agents Phase 2
9 Antifungal Agents Phase 2
10 Anti-Infective Agents Phase 2
11 Cola Phase 2
12 Immunosuppressive Agents Phase 1, Phase 2
13 Immunologic Factors Phase 1, Phase 2
14
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903
15
Dactolisib Investigational Phase 1 915019-65-7
16
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
17
Doxorubicin Approved, Investigational 23214-92-8 31703
18
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
19
Dactinomycin Approved, Investigational 50-76-0 2019 457193
20
Ifosfamide Approved 3778-73-2 3690
21 Vaccines
22 Anesthetics
23 Ophthalmic Solutions
24
Isophosphamide mustard 100427
25
Liposomal doxorubicin 31703

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Sirolimus for Cowden Syndrome With Colon Polyposis Recruiting NCT04094675 Phase 2 Sirolimus
4 A Randomized Double-Blind Controlled Trial of Everolimus in Individuals With PTEN Mutations (RAD001XUS257T) Active, not recruiting NCT02991807 Phase 1, Phase 2 RAD001;Placebo
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 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Recruiting NCT02461446
10 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
11 Intravitreal Injection of Sirolimus in the Treatment of Aggressive Retinal Astrocytic Hamartoma Recruiting NCT04707209 Sirolimus
12 International Pleuropulmonary Blastoma 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: hamartoma

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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 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 29 WDPCP
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Anatomical Context for Congenital Heart Defects, Hamartomas of Tongue, and...

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

40
Liver, Tongue, Lung, Breast, Heart, Smooth Muscle, Retina
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 6994)
# Title Authors PMID Year
1
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 6 57
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 6
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. 6
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
TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. 61 54
19966866 2010
8
Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1. 54 61
20389100 2010
9
The tuberous sclerosis complex. 61 54
20146692 2010
10
Developmental defects and childhood cancer. 54 61
19812499 2009
11
PTEN hamartoma tumor syndrome: an overview. 54 61
19668082 2009
12
Genetics of the hamartomatous polyposis syndromes: a molecular review. 54 61
19381654 2009
13
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. 61 54
19449422 2009
14
Pediatric juvenile polyposis syndromes: an update. 61 54
19463221 2009
15
Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. 61 54
19175396 2009
16
A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report. 61 54
19203369 2009
17
PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects. 61 54
19177005 2009
18
Hamartomatous polyposis syndromes. 54 61
19414148 2009
19
PTEN hamartoma tumor syndromes. 54 61
18781191 2008
20
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view. 61 54
18986487 2008
21
Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. 54 61
18794875 2008
22
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. 61 54
18478223 2008
23
Hamartomatous polyposis syndromes. 61 54
18672141 2008
24
Rapamycin treatment for a child with germline PTEN mutation. 61 54
18431376 2008
25
WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase. 54 61
18381890 2008
26
Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas. 54 61
18292222 2008
27
Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. 61 54
18252217 2008
28
Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures. 61 54
18057317 2008
29
Familial non-medullary thyroid carcinoma: an update. 61 54
18931957 2008
30
Forehead plaque: a cutaneous marker of CNS involvement in tuberous sclerosis. 54 61
18187819 2008
31
Molecular insights into Peutz-Jeghers syndrome: two probands with a germline mutation of LKB1. 54 61
18600394 2008
32
Tuberous sclerosis preclinical studies: timing of treatment, combination of a rapamycin analog (CCI-779) and interferon-gamma, and comparison of rapamycin to CCI-779. 54 61
17986349 2007
33
Constitutive mTOR activation in TSC mutants sensitizes cells to energy starvation and genomic damage via p53. 54 61
17962806 2007
34
Cowden syndrome. 61 54
17920899 2007
35
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report. 61 54
17941496 2007
36
Hamartomatous polyposis syndromes. 54 61
17768394 2007
37
A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. 61 54
17522300 2007
38
Tuberous sclerosis complex: a review. 61 54
17321910 2007
39
Identification and characterization of novel human transcripts embedded within HMGA2 in t(12;14)(q15;q24.1) uterine leiomyoma. 54 61
17045619 2006
40
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. 54 61
17033968 2006
41
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. 61 54
17028174 2006
42
Muscle atrophy in transgenic mice expressing a human TSC1 transgene. 61 54
16996505 2006
43
TSC2 integrates Wnt and energy signals via a coordinated phosphorylation by AMPK and GSK3 to regulate cell growth. 61 54
16959574 2006
44
Overexpression of MLH-1 and psoriasin genes in cutaneous angiofibromas from tuberous sclerosis complex patients. 54 61
16965334 2006
45
Turnover of the active fraction of IRS1 involves raptor-mTOR- and S6K1-dependent serine phosphorylation in cell culture models of tuberous sclerosis. 54 61
16914728 2006
46
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. 61 54
16773562 2006
47
TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. 61 54
16464865 2006
48
Accelerated onsets of gastric hamartomas and hepatic adenomas/carcinomas in Lkb1+/-p53-/- compound mutant mice. 54 61
16278673 2006
49
More than just a bump: the hamartoma syndromes. 54 61
17249301 2006
50
CASE 4. Fibrocystic breast disease in a 16-year-old female with PTEN hamartoma tumor syndrome. 61 54
16421431 2006
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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:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDPCP NM_015910.7(WDPCP):c.552_553del (p.Cys185fs) Deletion Pathogenic 162668 rs727503781 GRCh37: 2:63664635-63664636
GRCh38: 2:63437501-63437502
2 TSC2 NM_000548.5(TSC2):c.5160+4A>C SNV Pathogenic 373972 rs45517403 GRCh37: 16:2138144-2138144
GRCh38: 16:2088143-2088143
3 WDPCP NM_015910.7(WDPCP):c.526_527del (p.Leu176fs) Deletion Pathogenic 690307 rs1575420160 GRCh37: 2:63664661-63664662
GRCh38: 2:63437527-63437528
4 TSC1 NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) SNV Pathogenic 48943 rs118203682 GRCh37: 9:135778027-135778027
GRCh38: 9:132902640-132902640
5 WDPCP NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile) SNV Uncertain significance 531816 rs201412509 GRCh37: 2:63609227-63609227
GRCh38: 2:63382092-63382092
6 WDPCP NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) SNV Uncertain significance 220911 rs202196322 GRCh37: 2:63714613-63714613
GRCh38: 2:63487479-63487479
7 WDPCP NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) SNV Uncertain significance 162669 rs200322968 GRCh37: 2:63719990-63719990
GRCh38: 2:63492856-63492856

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

72
# 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 26)
# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 36
Show member pathways
 12.69 TSC2 TSC1 STK11 PTEN
2
Regulation of TP53 Activity 65
Show member pathways
 12.66 TSC2 TSC1 STK11 PTEN
3
Glucose / Energy Metabolism 4
12.28 TSC2 STK11 PTEN
4
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 12.27 TSC2 TSC1 PTEN
5
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.23 TSC2 TSC1 STK11
6
mTOR signalling 65
Show member pathways
 12.16 TSC2 TSC1 STK11
7
Development IGF-1 receptor signaling 23
Show member pathways
 12.14 TSC2 TSC1 PTEN
8
Translation Non-genomic (rapid) action of Androgen Receptor 23
Show member pathways
 12.02 TSC2 PTEN GLI3
9
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 11.98 TSC2 TSC1 PTEN
10
Translational Control 4
11.97 TSC2 TSC1 FLCN
11
AMPK Enzyme Complex Pathway 63
Show member pathways
 11.89 TSC2 TSC1 STK11
12
Cellular senescence (KEGG) 36
11.83 TSC2 TSC1 PTEN
13
Longevity regulating pathway 36
Show member pathways
 11.79 TSC2 TSC1 STK11
14
Integrated Breast Cancer Pathway 1
11.64 TSC2 TSC1 STK11 PTEN
15
Glioblastoma Multiforme 63
11.63 TSC2 TSC1 PTEN
16
PI3K / Akt Signaling 4
11.51 TSC2 TSC1 PTEN
17
mTOR signaling pathway (KEGG) 36
Show member pathways
 11.49 TSC2 TSC1 STK11 PTEN FLCN
18
TP53 Regulates Metabolic Genes 65
11.43 TSC2 TSC1 PTEN
19
Autophagy - animal 36
11.39 TSC2 TSC1 STK11 PTEN
20
Wnt Signaling Pathway Netpath 1
11.35 TSC2 TSC1
21
TBC/RABGAPs 65
11.28 TSC2 TSC1
22
ATM Signaling Network in Development and Disease 1
11.26 TSC2 STK11
23
BDNF-TrkB Signaling 1
11.09 TSC2 TSC1
24
LKB1 signaling events 1
11.06 TSC2 TSC1 STK11
25
PI3K-AKT-mTOR signaling pathway and therapeutic opportunities 1
11.02 TSC2 PTEN
26
Nanoparticle triggered autophagic cell death 1
10.87 TSC2 TSC1
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 cell projection GO:0042995 9.35 WDPCP TSC1 PTEN GLI3 FLCN
2 TSC1-TSC2 complex GO:0033596 8.62 TSC2 TSC1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.7 TSC2 PTEN GLI3
2 regulation of cell cycle GO:0051726 9.63 TSC2 TSC1 PTEN
3 embryonic digit morphogenesis GO:0042733 9.58 WDPCP GLI3
4 negative regulation of cold-induced thermogenesis GO:0120163 9.57 STK11 FLCN
5 embryonic organ development GO:0048568 9.56 WDPCP GLI3
6 protein kinase B signaling GO:0043491 9.55 TSC2 PTEN
7 negative regulation of insulin receptor signaling pathway GO:0046627 9.54 TSC2 TSC1
8 kidney development GO:0001822 9.54 WDPCP TSC1 GLI3
9 positive regulation of macroautophagy GO:0016239 9.51 TSC2 TSC1
10 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.49 STK11 FLCN
11 regulation of focal adhesion assembly GO:0051893 9.48 WDPCP TSC1
12 regulation of protein kinase B signaling GO:0051896 9.43 STK11 PTEN
13 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.4 TSC2 PTEN
14 negative regulation of cell proliferation GO:0008285 9.35 TSC2 TSC1 STK11 PTEN GLI3
15 negative regulation of protein kinase B signaling GO:0051898 9.33 TSC2 PTEN FLCN
16 anoikis GO:0043276 9.32 TSC2 STK11
17 negative regulation of cell size GO:0045792 9.26 TSC1 PTEN
18 negative regulation of TOR signaling GO:0032007 8.8 TSC2 TSC1 FLCN

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 8.62 TSC2 TSC1
Sources

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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