MCID: CNG410
MIFTS: 42

Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly

Categories: Genetic diseases, Fetal 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 tuberous sclerosis 1 and tuberous sclerosis 2. 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 kidney, and related phenotypes are cryptorchidism and 2-3 finger syndactyly

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 72)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 31.9 CCL26 TSC1 TSC2
2 tuberous sclerosis 2 31.8 TSC1 TSC2
3 cowden disease 31.8 PTEN STK11 TSC1 TSC2
4 juvenile polyposis syndrome 30.9 PTEN STK11
5 birt-hogg-dube syndrome 30.9 FLCN PTEN
6 peutz-jeghers syndrome 30.6 PTEN STK11 TSC1 TSC2
7 hypothalamic hamartomas 12.4
8 pten hamartoma tumor syndrome 12.3
9 congenital smooth muscle hamartoma 12.2
10 basaloid follicular hamartoma 12.1
11 hepatic cystic hamartoma 12.1
12 basaloid follicular hamartoma syndrome, generalized, autosomal dominant 12.0
13 giant mammary hamartoma 12.0
14 combined hamartoma of the retina and retinal pigment epithelium 12.0
15 angiomyomatous hamartoma 12.0
16 cowden syndrome 1 11.9
17 rhabdomyomatous mesenchymal hamartoma 11.9
18 angiomatous lymphoid hamartoma 11.9
19 hamartoma, precalcaneal congenital fibrolipomatous 11.8
20 macrocephaly mesodermal hamartoma spectrum 11.8
21 heart defect, tongue hamartoma and polysyndactyly 11.8
22 linear hamartoma syndrome 11.8
23 hypothalamic hamartomas with gelastic seizures 11.8
24 bannayan-riley-ruvalcaba syndrome 11.8
25 perlman syndrome 11.6
26 pallister-hall syndrome 11.5
27 graham boyle troxell syndrome 11.5
28 orstavik lindemann solberg syndrome 11.4
29 nevus, epidermal 11.4
30 congenital mesoblastic nephroma 11.2
31 capillary hemangioma 11.1
32 odontoma 11.1
33 skin creases, congenital symmetric circumferential, 1 11.1
34 curry-jones syndrome 11.0
35 bazex syndrome 10.9
36 trichoepithelioma, multiple familial, 1 10.9
37 polydactyly cleft lip palate psychomotor retardation 10.9
38 castleman disease 10.8
39 linear verrucous nevus syndrome 10.8
40 adult hepatocellular carcinoma 10.5 TSC1 TSC2
41 subependymal glioma 10.5 TSC1 TSC2
42 benign ependymoma 10.5 TSC1 TSC2
43 lissencephaly with cerebellar hypoplasia 10.5 TSC1 TSC2
44 subependymal giant cell astrocytoma 10.5 TSC1 TSC2
45 corneal dystrophy, fleck 10.4 TSC1 TSC2
46 angiomatosis 10.4 CCL26 TSC2
47 focal cortical dysplasia, type ii 10.4 TSC1 TSC2
48 uterine benign neoplasm 10.4 HMGA2 TSC2
49 reproductive organ benign neoplasm 10.3 HMGA2 TSC2
50 skin lipoma 10.3 HMGA2 PTEN

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

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 9.98 FLCN GLI3 PTEN STK11 TSC1 TSC2
2 cellular MP:0005384 9.95 FLCN GLI3 PTEN STK11 TSC1 TSC2
3 embryo MP:0005380 9.91 FLCN GLI3 PTEN STK11 TSC1 TSC2
4 growth/size/body region MP:0005378 9.87 FLCN GLI3 PTEN STK11 TSC1 TSC2
5 renal/urinary system MP:0005367 9.7 FLCN GLI3 PTEN STK11 TSC1 TSC2
6 neoplasm MP:0002006 9.65 FLCN PTEN STK11 TSC1 TSC2
7 respiratory system MP:0005388 9.35 GLI3 PTEN STK11 TSC1 WDPCP
8 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, Kidney

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

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 Pathogenic rs200322968 GRCh37 Chromosome 2, 63719990: 63719990
6 WDPCP NM_015910.6(WDPCP): c.160G> A (p.Asp54Asn) single nucleotide variant Pathogenic 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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 PTEN STK11 TSC1 TSC2
2
Show member pathways
12.67 PTEN STK11 TSC1 TSC2
3 12.28 PTEN STK11 TSC2
4
Show member pathways
12.26 PTEN TSC1 TSC2
5
Show member pathways
12.17 STK11 TSC1 TSC2
6
Show member pathways
12.15 STK11 TSC1 TSC2
7 11.97 FLCN TSC1 TSC2
8
Show member pathways
11.91 STK11 TSC1 TSC2
9 11.87 PTEN TSC1 TSC2
10 11.86 PTEN TSC1 TSC2
11
Show member pathways
11.81 STK11 TSC1 TSC2
12
Show member pathways
11.71 PTEN TSC1 TSC2
13 11.64 PTEN STK11 TSC1 TSC2
14 11.63 PTEN TSC1 TSC2
15 11.51 PTEN TSC1 TSC2
16
Show member pathways
11.48 FLCN PTEN STK11 TSC1 TSC2
17 11.43 PTEN TSC1 TSC2
18 11.36 PTEN STK11 TSC1 TSC2
19 11.34 TSC1 TSC2
20 11.27 TSC1 TSC2
21 11.25 STK11 TSC2
22 11.1 TSC1 TSC2
23 11.06 STK11 TSC1 TSC2
24 11 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 cell projection GO:0042995 9.46 GLI3 PTEN TSC1 WDPCP
2 cilium GO:0005929 9.13 FLCN GLI3 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 nervous system development GO:0007399 9.8 PTEN STK11 TSC1 WDPCP
2 heart development GO:0007507 9.72 GLI3 PTEN TSC2
3 cell cycle arrest GO:0007050 9.63 STK11 TSC1 TSC2
4 regulation of cell cycle GO:0051726 9.61 PTEN TSC1 TSC2
5 embryonic digit morphogenesis GO:0042733 9.58 GLI3 WDPCP
6 protein kinase B signaling GO:0043491 9.58 PTEN TSC2
7 positive regulation of autophagy GO:0010508 9.57 FLCN STK11
8 embryonic organ development GO:0048568 9.56 GLI3 WDPCP
9 negative regulation of insulin receptor signaling pathway GO:0046627 9.54 TSC1 TSC2
10 kidney development GO:0001822 9.54 GLI3 TSC1 WDPCP
11 positive regulation of macroautophagy GO:0016239 9.52 TSC1 TSC2
12 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.51 FLCN STK11
13 regulation of focal adhesion assembly GO:0051893 9.48 TSC1 WDPCP
14 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.4 PTEN TSC2
15 negative regulation of cell proliferation GO:0008285 9.35 GLI3 PTEN STK11 TSC1 TSC2
16 negative regulation of protein kinase B signaling GO:0051898 9.33 FLCN PTEN TSC2
17 anoikis GO:0043276 9.32 STK11 TSC2
18 negative regulation of cell size GO:0045792 9.26 PTEN TSC1
19 negative regulation of TOR signaling GO:0032007 8.8 FLCN 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
17 ExPASy
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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