MSeqDR Mitochondrial Disease Portal


 
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expandneurocutaneous syndrome with epilepsy (MONDO:0015651)
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expandovergrowth syndrome (MONDO:0019716)
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expandPTEN hamartoma tumor syndrome (MONDO:0017623)
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expandsyndrome or malformation associated with head and neck malformations (MONDO:0015501)
..Starting node
..expandProteus syndrome ()

       Child Nodes:



 Sister Nodes: 
..expandadducted thumbs-arthrogryposis syndrome, Christian type ()
..expandankyloblepharon filiforme-imperforate anus syndrome ()
..expandankyloblepharon-ectodermal defects-cleft lip/palate syndrome ()
..expandarthrogryposis multiplex congenita-whistling face syndrome ()
..expandBeckwith-Wiedemann syndrome ()
..expandbinder syndrome ()
..expandbranchio-oto-renal syndrome ()
..expandCHARGE syndrome ()
..expandchromosome 18q deletion syndrome ()
..expandEEC syndrome ()
..expandgenetic syndromic Pierre Robin syndrome ()
..expandhemihyperplasia-multiple lipomatosis syndrome ()
..expandisolated ankyloblepharon filiforme adnatum ()
..expandisolated congenital syngnathia ()
..expandMarden-Walker syndrome ()
..expandmultiple pterygium-malignant hyperthermia syndrome ()
..expandorofacial clefting syndrome ()
..expandorofaciodigital syndrome ()
..expandotopalatodigital syndrome ()
..expandpopliteal pterygium syndrome ()
..expandpostaxial acrofacial dysostosis ()
..expandProteus syndrome ()
..expandrare disease with Pierre Robin syndrome ()
..expandSimpson-Golabi-Behmel syndrome ()
..expandSturge-Weber syndrome ()
..expandvan den Ende-Gupta syndrome ()
..expandvan der Woude syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8318
Name:Proteus syndrome
Definition:Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.
Alternative IDs:176920
ParentIDs:
TreeNumbers:
Synonyms:Elattoproteus syndrome; gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly; hemihypertrophy and macrocephaly; partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly; partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome; Proteus syndrome; Wiedeman
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 176920;
MSeqDR LSDB:  
Genes: AKT1;
Phenotypes
1 HP:0003593Infantile onset
2 HP:0004490Calvarial hyperostosis
3 HP:0002625Deep venous thrombosis
4 HP:0007483Depigmentation/hyperpigmentation of skin
5 HP:0005280Depressed nasal bridge
6 HP:0000268Dolichocephaly
7 HP:0000494Downslanted palpebral fissures
8 HP:0001140Epibulbar dermoid
9 HP:0025092Epidermal acanthosis
10 HP:0010816Epidermal nevus
11 HP:0005465Facial hyperostosis
12 HP:0001028Hemangioma
13 HP:0001528Hemihypertrophy
14 HP:0000962Hyperkeratosis
15 HP:0007403Hypertrophy of skin of soles
16 HP:0002342Intellectual disability, moderate
17 HP:0002751Kyphoscoliosis
18 HP:0012032Lipoma
19 HP:0000276Long face
20 HP:0100764Lymphangioma
21 HP:0000256Macrocephaly
22 HP:0004472Mandibular hyperostosis
23 HP:0001012Multiple lipomas
24 HP:0003764Nevus
25 HP:0000194Open mouth
26 HP:0003676Progressive
27 HP:0000508Ptosis
NAMDC:  Ptosis
28 HP:0001428Somatic mutation
29 HP:0003416Spinal canal stenosis
30 HP:0002176Spinal cord compression
31 HP:0001744Splenomegaly
32 HP:0003745Sporadic
33 HP:0002753Thin bony cortex
34 HP:0012721Venous malformation
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001382430.1(AKT1):c.49_50delinsAG (p.Glu17Arg)207AKT1Pathogenic1595251483RCV000984546; NMONDO:MONDO:0008318,MedGen:C0085261,OMIM:176920, Orphanet:74414105246550105246551NC_000014.8:g.105246550_105246551delinsCT-
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)207AKT1Pathogenic121434592RCV000015017|RCV000015018|RCV000015019|RCV000031926|RCV000430173|RCV000419412|RCV000436698|RCV000421850|RCV000421009|RCV000421696|RCV000438154|RCV000440828|RCV000443761|RCV000444311|RCV000427484|RCV000431237|RCV000426386|RCV000431723|RCV000429060|RCV00043; NMONDO:MONDO:0004988,MedGen:C0858252|MONDO:MONDO:0002032,MedGen:C0699790|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0008318,MedGen:C0085261,OMIM:176920, Orphanet:744|Human Phenotype Ontolog1410524655110524655114:g.105246551C>TClinGen:CA123660,UniProtKB:P31749#VAR_055422,OMIM:164730.0001C0007112 Adenocarcinoma of prostate;
MSeqDR Portal