Proteus-like syndrome

Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.



Input patient's signs and symptoms


Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(48.8%)		 19706101
 Macrocephaly-capillary malformation: a report of three cases and review of the literature.
Gonzalez ME, Burk CJ, Barbouth DS, Connelly EA.
Pediatr Dermatol. 2009;26(3):342-6.
Macrocephaly Syndactyly
Child Child, Preschool Craniofacial Abnormalities Developmental Disabilities Homo sapiens Male Skin Diseases, Vascular Syndrome Telangiectasis
2
(39.0%)		 25549896
 Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.
Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N.
Eur J Paediatr Neurol. 2015;19(2):188-92.
Macrocephaly
LYPD1 PTEN
rs1114167676 rs398123329 rs587782607
Autism Spectrum Disorders Child Child, Preschool Developmental Disabilities Females Hamartoma Syndrome, Multiple Homo sapiens Infant Intracranial Arteriovenous Malformation Macrocephaly Male Micronucleus, Germline Mutation PTEN Phosphohydrolase Phenotype
2
(39.0%)		 23382303
 Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy.
Granados A, Eng C, Diaz A.
J Pediatr Endocrinol Metab. 2013;26(1-2):137-41.
Macrocephaly
AKT1 PTEN
rs57374291 rs786204858
Blood Coagulation Disorders, Inherited Body Height Child, Preschool Developmental Disabilities Dwarfism Germ-Line Mutation Growth Disorders Homo sapiens Hypoglycemia Infant Macrocephaly Male PTEN Phosphohydrolase Sibling von Willebrand Disease
4
(4.0%)		 28523199
(5421084)
 De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis.
Mauro A, Omoyinmi E, Sebire NJ, Barnicoat A, Brogan P.
Case Rep Pediatr. 2017;2017:9682803.
Immune dysregulation
PTEN
rs876660634
4
(4.0%)		 21190448
 Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity.
Laury AR, Bongiovanni M, Tille JC, Kozakewich H, Nose V.
Thyroid. 2011;21(2):135-44.
Carcinoma
LYPD1 PTEN
Adenoma Adult Carcinoma Carcinoma, Papillary Child Females Hamartoma Syndrome, Multiple Homo sapiens Hyperplasia Male Middle Aged Mutation PTEN Phosphohydrolase Thyroid Gland Thyroid Neoplasm Thyroid Nodule Thyroiditis Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 31

HPO ID Term Frequency
HP:0000545 Myopia Very frequent (99-80%)
HP:0000615 Abnormal pupil morphology Very frequent (99-80%)
HP:0001028 Hemangioma Very frequent (99-80%)
HP:0001031 Subcutaneous lipoma Very frequent (99-80%)
HP:0001140 Limbal dermoid Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0002816 Genu recurvatum Very frequent (99-80%)
HP:0007400 Irregular hyperpigmentation Very frequent (99-80%)
HP:0010807 Open bite Very frequent (99-80%)
HP:0010816 Epidermal nevus Very frequent (99-80%)
HP:0100559 Lower limb asymmetry Very frequent (99-80%)
HP:0100774 Hyperostosis Very frequent (99-80%)
HP:0000238 Hydrocephalus Frequent (79-30%)
HP:0000256 Macrocephaly Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000541 Retinal detachment Frequent (79-30%)
HP:0000828 Abnormality of the parathyroid gland Frequent (79-30%)
HP:0001100 Heterochromia iridis Frequent (79-30%)
HP:0001334 Communicating hydrocephalus Frequent (79-30%)
HP:0005293 Venous insufficiency Frequent (79-30%)
HP:0009721 Shagreen patch Frequent (79-30%)
HP:0100777 Exostoses Frequent (79-30%)
HP:0000147 Polycystic ovaries Occasional (29-5%)
HP:0000268 Dolichocephaly Occasional (29-5%)
HP:0000463 Anteverted nares Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0001744 Splenomegaly Occasional (29-5%)
HP:0002652 Skeletal dysplasia Occasional (29-5%)
HP:0010516 Thymus hyperplasia Occasional (29-5%)
HP:0100730 Bronchogenic cyst Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000256 Macrocephaly 1
HP:0000717 Autism 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PTEN phosphatase and tensin homolog 5728