CHDTHP
MCID: CNG410
MIFTS: 55

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

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Heart Defects, Hamartomas of Tongue, and...

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

Name: Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 57 75
Hamartoma 44 73
Chdthp 57 75
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome 59
Heart Defect, Tongue Hamartoma and Polysyndactyly 73
Orstavik Lindemann Solberg Syndrome 73
Ostravik-Lindemann-Solberg Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
heart defect-tongue hamartoma-polysyndactyly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
congenital heart defects, hamartomas of tongue, and polysyndactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 217085
Orphanet 59 ORPHA1338
UMLS via Orphanet 74 C2931046
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 45 C535849
MedGen 42 C1857587

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

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly, also known as hamartoma, is related to cowden syndrome 1 and cowden disease. 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. Affiliated tissues include tongue, heart and liver, and related phenotypes are patent ductus arteriosus and cryptorchidism

Description from OMIM: 217085

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

Diseases in the Heart Defect, Tongue Hamartoma and Polysyndactyly family:

Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly

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 422)
# Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 33.4 PTEN TSC2
2 cowden disease 32.8 PTEN STK11 TSC1 TSC2
3 tuberous sclerosis 1 32.2 CCL26 TSC1 TSC2
4 tuberous sclerosis 2 31.8 TSC1 TSC2
5 peutz-jeghers syndrome 31.6 PTEN STK11 TSC1 TSC2
6 birt-hogg-dube syndrome 31.4 FLCN PTEN
7 juvenile polyposis syndrome 31.4 PTEN STK11
8 tuberous sclerosis 30.2 CCL26 STK11 TSC1 TSC2
9 angiomyolipoma 30.0 CCL26 TSC1 TSC2
10 cystic kidney disease 29.7 CCL26 TSC1 TSC2
11 kidney angiomyolipoma 29.6 FLCN TSC1 TSC2
12 pneumothorax 29.5 FLCN TSC1
13 renal cell carcinoma, nonpapillary 29.4 FLCN TSC1 TSC2
14 megalencephaly 29.2 PTEN STK11 TSC1
15 polycystic liver disease 1 with or without kidney cysts 29.2 FLCN TSC1 TSC2
16 hypothalamic hamartomas 12.5
17 congenital smooth muscle hamartoma 12.3
18 basaloid follicular hamartoma 12.3
19 hepatic cystic hamartoma 12.2
20 basaloid follicular hamartoma syndrome, generalized, autosomal dominant 12.2
21 giant mammary hamartoma 12.2
22 combined hamartoma of the retina and retinal pigment epithelium 12.2
23 angiomyomatous hamartoma 12.1
24 hamartoma, precalcaneal congenital fibrolipomatous 12.1
25 rhabdomyomatous mesenchymal hamartoma 12.1
26 angiomatous lymphoid hamartoma 12.1
27 macrocephaly mesodermal hamartoma spectrum 12.0
28 pallister-hall syndrome 12.0
29 heart defect, tongue hamartoma and polysyndactyly 11.9
30 linear hamartoma syndrome 11.9
31 hypothalamic hamartomas with gelastic seizures 11.9
32 perlman syndrome 11.8
33 graham boyle troxell syndrome 11.6
34 orstavik lindemann solberg syndrome 11.6
35 nevus, epidermal 11.5
36 congenital mesoblastic nephroma 11.4
37 capillary hemangioma 11.3
38 odontoma 11.2
39 skin creases, congenital symmetric circumferential, 1 11.2
40 orofaciodigital syndrome i 11.2
41 becker nevus syndrome 11.2
42 orofaciodigital syndrome vi 11.1
43 curry-jones syndrome 11.1
44 bazex syndrome 11.1
45 trichoepithelioma, multiple familial, 1 11.1
46 castleman disease 10.9
47 linear verrucous nevus syndrome 10.9
48 hyperparathyroidism 2 with jaw tumors 10.9
49 orofaciodigital syndrome iv 10.9
50 orofaciodigital syndrome viii 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

Symptoms & Phenotypes for Congenital Heart Defects, Hamartomas of Tongue, and...

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001643
2 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
3 benign neoplasm of the central nervous system 59 32 frequent (33%) Frequent (79-30%) HP:0100835
4 2-3 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001233
5 hamartoma of tongue 59 32 hallmark (90%) Very frequent (99-80%) HP:0011802
6 hypertelorism 32 occasional (7.5%) HP:0000316
7 coarctation of aorta 32 HP:0001680
8 postaxial hand polydactyly 32 HP:0001162
9 subaortic stenosis 59 Very frequent (99-80%)
10 broad hallux 32 HP:0010055
11 subvalvular aortic stenosis 32 hallmark (90%) HP:0001682
12 complete atrioventricular canal defect 32 HP:0001674

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 10 FLCN GLI3 PTEN STK11 TSC1 TSC2
2 cellular MP:0005384 9.98 FLCN GLI3 PTEN STK11 TSC1 TSC2
3 embryo MP:0005380 9.95 FLCN GLI3 PTEN STK11 TSC1 TSC2
4 growth/size/body region MP:0005378 9.91 FLCN GLI3 PTEN STK11 TSC1 TSC2
5 integument MP:0010771 9.72 GLI3 PTEN STK11 TSC1 TSC2
6 renal/urinary system MP:0005367 9.7 FLCN GLI3 PTEN STK11 TSC1 TSC2
7 neoplasm MP:0002006 9.65 FLCN PTEN STK11 TSC1 TSC2
8 respiratory system MP:0005388 9.35 GLI3 PTEN STK11 TSC1 WDPCP
9 vision/eye MP:0005391 9.02 GLI3 PTEN STK11 TSC1 WDPCP

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

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

Cochrane evidence based reviews: hamartoma

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

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

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

41
Tongue, Heart, Liver, Breast, Lung, Smooth Muscle, Skin

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

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

(show top 50) (show all 780)
# Title Authors Year
1
Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome. ( 30447426 )
2018
2
Generalized basaloid follicular hamartoma syndrome versus Gorlin syndrome: A diagnostic challenge. ( 30152544 )
2018
3
Cutaneous inflammation as a marker of malignant transformation in a patient with linear unilateral basaloid follicular hamartoma. ( 30246704 )
2018
4
Combined hamartoma of the retina and retinal pigment epithelium with intense pigmentation of the inner retinal layers. ( 30470489 )
2018
5
Ductal Carcinoma in situ of the breast in sclerosing adenosis encapsulated by a hamartoma: A case report. ( 29554537 )
2018
6
Subcentimeter epilepsy surgery targets by resting state functional magnetic resonance imaging can improve outcomes in hypothalamic hamartoma. ( 30374947 )
2018
7
CyberKnife® Radiosurgery as First-line Treatment for Catastrophic Epilepsy Caused by Hypothalamic Hamartoma. ( 30221096 )
2018
8
Proliferating Neurocristic Hamartoma Arising in a Giant Congenital Nevus: Comparative Genomic Hybridization Findings. ( 30461421 )
2018
9
Co-existing infantile hepatic hemangioma and mesenchymal hamartoma in a neonate. ( 29383241 )
2018
10
Congenital Linear Smooth Muscle Hamartoma with Hypertrichosis: Hair Density on Dermoscopy in Parallel with the Number of Smooth Muscle Bundles. ( 29386851 )
2018
11
Lipofibromatous Hamartoma of the Median Nerve in Association with or without Macrodactyly. ( 25371022 )
2018
12
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation. ( 29720545 )
2018
13
A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma. ( 30455963 )
2018
14
Case of meningothelial hamartoma with dermal melanocytosis in a patient with trichorhinophalangeal syndrome type II. ( 29679406 )
2018
15
Image Gallery: Folliculocystic and collagen hamartoma: a lesser-known presentation of tuberous sclerosis. ( 29668106 )
2018
16
Optic coherence tomography appearances of retinal astrocytic hamartoma and systemic features in tuberous sclerosis of Japanese patients. ( 29991284 )
2018
17
Retinal Astrocytic Hamartoma- Ophthalmologic marker of Tuberous Sclerosis. ( 30541150 )
2018
18
Retinal astrocytic hamartoma in tuberous sclerosis complex in an elderly person: a case report. ( 30541513 )
2018
19
Peripapillar retinal hamartoma associated with tuberous sclerosis. Case report. ( 28559053 )
2018
20
Folliculocystic and collagen hamartoma of tuberous sclerosis: A new case in a female patient and review of literature. ( 29023848 )
2018
21
A Vasculitis-Associated Neuromuscular and Vascular Hamartoma Presenting as a Fatal Form of Abdominal Cocoon. ( 29992844 )
2018
22
Choroidal Ganglioneuronal Hamartoma in Neurofibromatosis Type-1. ( 30452769 )
2018
23
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma. ( 30332768 )
2018
24
Seromucinous Hamartoma of the Nasal Cavity. ( 29594917 )
2018
25
Lipofibromatous Hamartoma of the Plantar Nerve An Extremely Rare Localization. ( 29634300 )
2018
26
Giant Pulmonary Hamartoma with Dominant CD34- Positive Smooth Muscle Cell Component. ( 29637532 )
2018
27
Small bowel capsule endoscopy revealing neuromuscular and vascular hamartoma of the jejunum: A case report. ( 29642143 )
2018
28
Long-Term Follow-Up of Congenital Simple Hamartoma of the Retinal Pigment Epithelium: A Case Report. ( 29681839 )
2018
29
A case of peduncolated Brunner's gland hamartoma. ( 29694312 )
2018
30
Hamartoma-like lesions in the mouse retina: an animal model of Pten hamartoma tumour syndrome. ( 29716894 )
2018
31
Pancreatic Lipomatous Hamartoma: A Hitherto Unrecognized Variant. ( 29738363 )
2018
32
Mucosal Schwann cell hamartoma of gall bladder: a novel observation. ( 29739615 )
2018
33
Fibrolipomatous Hamartoma of the Median Nerve with Macrodystrophia Lipomatosa. ( 29750134 )
2018
34
Cutaneous fibrolipomatous hamartoma: Report of 2 cases with retrocalcaneal location. ( 29766562 )
2018
35
Diffuse Gastric Ganglioneuromatosis: Novel Presentation of PTEN Hamartoma Syndrome-Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel PTEN Gene Mutation. ( 29770149 )
2018
36
An unusual case of pulmonary hamartoma with predominant bronchial mucous glands in the peripheral lung. ( 29770587 )
2018
37
NOVEL PRERETINAL HAIR PIN-LIKE VESSEL IN RETINAL ASTROCYTIC HAMARTOMA WITH VITREOUS HEMORRHAGE. ( 29782397 )
2018
38
Congenital Eccrine Angiomatous Hamartoma: A Rare Entity Revisited. ( 29854641 )
2018
39
Myoepithelial Hamartoma in the Ampulla of Vater. ( 29857148 )
2018
40
Recurrent hepatic mesenchymal hamartoma with osseous metaplasia. ( 29885038 )
2018
41
Computed tomography and magnetic resonance imaging findings of pancreatic hamartoma: A case report and literature review. ( 29906625 )
2018
42
Rare congenital meningothelial hamartoma of the scalp with progressive growth. ( 29916045 )
2018
43
Respiratory Epithelial Adenomatoid Hamartoma: An Important Differential of Sinonasal Masses. ( 29922536 )
2018
44
Salivary hamartoma with a bifid tongue in an adult patient. ( 29937661 )
2018
45
Foveolar simple retinal pigment epithelial hamartoma. ( 29941750 )
2018
46
Hypothalamic Hamartoma With Infantile Spasms: Case Report With Surgical Treatment. ( 29961499 )
2018
47
Editorial Comment: Case #26 Hypothalamic Hamartoma and Infantile Spasms. ( 29961500 )
2018
48
Eccrine hamartoma with spectrum of histologic findings associated with limb deformity. ( 29993126 )
2018
49
Mandibular vascular hamartoma in a cat. ( 30012929 )
2018
50
Morphological Changes of the Median Nerve after Carpal Tunnel Release in a Median Nerve Lipofibromatous Hamartoma. ( 30020093 )
2018

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

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

75
# Symbol AA change Variation ID SNP ID
1 WDPCP p.Asp54Asn VAR_073251 rs200322968

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 GRCh37 Chromosome 9, 135778027: 135778027
2 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 GRCh38 Chromosome 9, 132902640: 132902640
3 WDPCP NM_015910.6(WDPCP): c.552_553delAT (p.Cys185Phefs) deletion Pathogenic rs727503781 GRCh37 Chromosome 2, 63664635: 63664636
4 WDPCP NM_015910.6(WDPCP): c.552_553delAT (p.Cys185Phefs) deletion Pathogenic rs727503781 GRCh38 Chromosome 2, 63437501: 63437502
5 WDPCP NM_015910.6(WDPCP): c.160G> A (p.Asp54Asn) single nucleotide variant Uncertain significance rs200322968 GRCh37 Chromosome 2, 63719990: 63719990
6 WDPCP NM_015910.6(WDPCP): c.160G> A (p.Asp54Asn) single nucleotide variant Uncertain significance rs200322968 GRCh38 Chromosome 2, 63492856: 63492856
7 TSC2 NM_000548.4(TSC2): c.5160+4A> C single nucleotide variant Pathogenic rs45517403 GRCh37 Chromosome 16, 2138144: 2138144
8 TSC2 NM_000548.4(TSC2): c.5160+4A> C single nucleotide variant Pathogenic rs45517403 GRCh38 Chromosome 16, 2088143: 2088143

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

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

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

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
Show member pathways
12.69 PTEN STK11 TSC1 TSC2
2
Show member pathways
12.64 PTEN STK11 TSC1 TSC2
3 12.28 PTEN STK11 TSC2
4
Show member pathways
12.27 PTEN TSC1 TSC2
5
Show member pathways
12.17 STK11 TSC1 TSC2
6
Show member pathways
12.15 STK11 TSC1 TSC2
7
Show member pathways
12.13 PTEN TSC1 TSC2
8 11.97 FLCN TSC1 TSC2
9
Show member pathways
11.95 PTEN TSC1 TSC2
10
Show member pathways
11.89 STK11 TSC1 TSC2
11 11.84 PTEN TSC1 TSC2
12 11.83 PTEN TSC1 TSC2
13
Show member pathways
11.79 STK11 TSC1 TSC2
14 11.64 PTEN STK11 TSC1 TSC2
15 11.63 PTEN TSC1 TSC2
16 11.51 PTEN TSC1 TSC2
17
Show member pathways
11.48 FLCN PTEN STK11 TSC1 TSC2
18 11.43 PTEN TSC1 TSC2
19 11.41 TSC1 TSC2
20 11.36 PTEN STK11 TSC1 TSC2
21 11.35 TSC1 TSC2
22 11.28 TSC1 TSC2
23 11.26 STK11 TSC2
24 11.09 TSC1 TSC2
25 11.06 STK11 TSC1 TSC2
26 11.01 PTEN TSC2

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

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 cilium GO:0005929 9.33 FLCN GLI3 WDPCP
2 cell projection GO:0042995 9.26 GLI3 PTEN TSC1 WDPCP
3 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.76 FLCN HMGA2 PTEN
2 heart development GO:0007507 9.71 GLI3 PTEN TSC2
3 regulation of cell cycle GO:0051726 9.61 PTEN TSC1 TSC2
4 embryonic digit morphogenesis GO:0042733 9.58 GLI3 WDPCP
5 negative regulation of cold-induced thermogenesis GO:0120163 9.57 FLCN STK11
6 positive regulation of autophagy GO:0010508 9.56 FLCN STK11
7 protein kinase B signaling GO:0043491 9.55 PTEN TSC2
8 kidney development GO:0001822 9.54 GLI3 TSC1 WDPCP
9 negative regulation of insulin receptor signaling pathway GO:0046627 9.52 TSC1 TSC2
10 embryonic organ development GO:0048568 9.51 GLI3 WDPCP
11 positive regulation of macroautophagy GO:0016239 9.49 TSC1 TSC2
12 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.48 FLCN STK11
13 regulation of focal adhesion assembly GO:0051893 9.46 TSC1 WDPCP
14 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.4 PTEN TSC2
15 negative regulation of protein kinase B signaling GO:0051898 9.33 FLCN PTEN TSC2
16 anoikis GO:0043276 9.32 STK11 TSC2
17 negative regulation of cell size GO:0045792 9.26 PTEN TSC1
18 negative regulation of TOR signaling GO:0032007 9.13 FLCN TSC1 TSC2
19 negative regulation of cell proliferation GO:0008285 9.02 GLI3 PTEN STK11 TSC1 TSC2

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 TSC1 TSC2

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

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11 DGIdb
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74 UMLS via Orphanet
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