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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Hamartoma Syndrome, Multiple (D006223)
Parent Node: Limb Deformities, Congenital (D017880)
..Starting node ..Proteus Syndrome (D016715)
Child Nodes:
........Macrocephaly mesodermal hamartoma spectrum (C537716)
Sister Nodes:
..Aase Smith syndrome (C535332)
..Abruzzo Erickson syndrome (C535559)
..Acromegaloid facial appearance syndrome (C535655)
..Acromicric dysplasia (C535662) 1
..Acropectoral syndrome (C535664)
..Acropectorovertebral Dysplasia, F-Form (C566319)
..Acrorenal syndrome recessive (C535666)
..Adams Oliver syndrome (C538225)
..Arachnodactyly (D054119) 10
..Arms, Malformation of (C566258)
..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..Bagatelle Cassidy syndrome (C537796)
..Brachydactyly (D059327) 54
..Brachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..Brachyolmia, recessive Hobaek type (C537099)
..Calabro syndrome (C537960)
..Camptobrachydactyly (C537967)
..Cartwright Nelson Fryns syndrome (C535917)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Chondrodysplasia, acromesomelic, with genital anomalies (C537913)
..COCOON SYNDROME (OMIM:613630)
..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Craniomicromelic Syndrome (C566522)
..Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..Ectrodactyly (C574275)
..Ectrodactyly-Polydactyly (C565601)
..Ectromelia (D004480) 22
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Fetal akinesia syndrome, X-linked (C537921)
..Foot Deformities, Congenital (D005532) 78
..Freire-Maia odontotrichomelic syndrome (C535637)
..Fryns syndrome (C538070)
..Genee-Wiedemann syndrome (C537680)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hand and foot deformity with flat facies (C535626)
..Hand Deformities, Congenital (D006228) 134
..Hanhart syndrome (C535629)
..Heart defects limb shortening (C535850)
..Hypochondroplasia (C562937)
..Hypoglossia-Hypodactylia (C566308)
..Ichthyosis tapered fingers midline groove up (C536272)
..Kaplan Plauchu Fitch syndrome (C536892)
..Kaufman oculocerebrofacial syndrome (C537013)
..Krause-Kivlin syndrome (C537617)
..Kuster syndrome (C538126)
..Laryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
..Le Marec Bracq Picaud syndrome (C536997)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..Limb Deficiencies, Distal, with Micrognathia (C565437)
..Limb-mammary syndrome (C535903)
..Lower Extremity Deformities, Congenital (D038061) 89
..Lynch Lee Murday syndrome (C537713)
..Megalodactyly (C562546)
..Mental retardation spasticity ectrodactyly (C537446)
..Mesomelia-synostoses syndrome (C537348)
..Metaphyseal anadysplasia (C537351)
..Metaphyseal Anadysplasia 1 (C567545)
..Metaphyseal Anadysplasia 2 (C567771)
..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..Microphthalmia, Syndromic 6 (C566440)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Multiple Pterygium Syndrome, X-Linked (C564072)
..Nephrosis deafness urinary tract digital malformation (C536402)
..Neu Laxova syndrome (C536405)
..Nievergelt syndrome (C536120)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Palant cleft palate syndrome (C538102)
..Penttinen-Aula syndrome (C536653)
..Pointer syndrome (C536323)
..Polydactyly (D017689) 61
..Postaxial Oligodactyly, Tetramelic (C566767)
..Powell Chandra Saal syndrome (C538357)
..Propping Zerres syndrome (C538052)
..Proteus Syndrome (D016715) 1
..Radial Ray Deficiency, X-Linked (C564523)
..Rapadilino syndrome (C535288)
..Reardon Hall Slaney syndrome (C535294)
..Renal dysplasia - limb defects syndrome (C537754)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Robinow syndrome, autosomal recessive (C535863)
..Ruzicka Goerz Anton syndrome (C537192)
..Short Stature-Obesity Syndrome (C564821)
..Splenogonadal fusion limb defects micrognatia (C537318)
..Split hand foot deformity (C535777) 2
..Split hand foot deformity 1 (C567893)
..Split-Hand And Split-Foot With Hypodontia (C566665)
..Split-Hand Foot Malformation 2 (C564056) 1
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Split-Hand/Foot Malformation 4 (C565344)
..Split-Hand/Foot Malformation 5 (C564674)
..Split-Hand/Foot Malformation 6 (C567616)
..Split-hand/foot malformation with long bone deficiency (C536425)
..Split-Hand/Foot Malformation With Long Bone Deficiency 2 (C565199)
..Split-Hand/Foot Malformation With Long Bone Deficiency 3 (C567245)
..Steinfeld Syndrome (C566655)
..Stern Lubinsky Durrie syndrome (C537488)
..Stratton-Parker Syndrome (C566105)
..Syndactyly (D013576) 69
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Tetramelic Monodactyly (C566066)
..Thanatophoric Dysplasia (D013796) 8
..Thoracic Dysplasia-Hydrocephalus Syndrome (C564774)
..Thoraco limb dysplasia Rivera type (C536516)
..Thoracomelic Dysplasia (C564773)
..Ulnar Hypoplasia with Mental Retardation (C564757)
..Upper Extremity Deformities, Congenital (D038062) 145
..VACTERL association (C536495)
..VACTERL association with hydrocephaly, X-linked (C536520)
..VACTERL hydrocephaly (C536521)
..Viljoen Kallis Voges syndrome (C536349)
..Weyers acrofacial dysostosis (C536695)
..Wright Dyck syndrome (C536749)
..Yunis Varon syndrome (C536719)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9383

Name:

Proteus Syndrome

Definition:

Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called 'elephant man', apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.

Alternative IDs:

OMIM:176920

ParentIDs:

MESH:D000015|MESH:D001848|MESH:D006223|MESH:D017880

TreeNumbers:

C04.445.435.500 |C04.651.435.500 |C05.116.099.750 |C05.660.585.620 |C16.131.077.740 |C16.131.621.585.620

Synonyms:

Elephant Man Disease |GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY ELATTOPROTEUS SYNDROME, INCLUDED |Proteus Like Syndrome |Proteus-Like Syndrome |Syndrome, Proteus-Like

Slim Mappings:

Cancer|Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: D016715
MeSH: D016715
OMIM: 176920;

Genes: AKT1;

Phenotypes

1	HP:0003593	Infantile onset
2	HP:0004490	Calvarial hyperostosis
3	HP:0002625	Deep venous thrombosis
4	HP:0007483	Depigmentation/hyperpigmentation of skin
5	HP:0005280	Depressed nasal bridge
6	HP:0000268	Dolichocephaly
7	HP:0000494	Downslanted palpebral fissures
8	HP:0025092	Epidermal acanthosis
9	HP:0010816	Epidermal nevus
10	HP:0005465	Facial hyperostosis
11	HP:0001028	Hemangioma
12	HP:0001528	Hemihypertrophy
13	HP:0000962	Hyperkeratosis
14	HP:0007403	Hypertrophy of skin of soles
15	HP:0002342	Intellectual disability, moderate
16	HP:0002751	Kyphoscoliosis
17	HP:0001140	Limbal dermoid
18	HP:0012032	Lipoma
19	HP:0000276	Long face
20	HP:0100764	Lymphangioma
21	HP:0000256	Macrocephaly
22	HP:0004472	Mandibular hyperostosis
23	HP:0001012	Multiple lipomas
24	HP:0003764	Nevus
25	HP:0000194	Open mouth
26	HP:0003676	Progressive
27	HP:0000508	Ptosis
28	HP:0001428	Somatic mutation
29	HP:0003416	Spinal canal stenosis
30	HP:0002176	Spinal cord compression
31	HP:0001744	Splenomegaly
32	HP:0003745	Sporadic
33	HP:0002753	Thin bony cortex
34	HP:0012721	Venous malformation

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys)	207	AKT1	Pathogenic	121434592	RCV000015017; RCV000015018; RCV000015019; RCV000031926;	N	Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001; MedGen:C0085261,OMIM:176920,ORPHA:744,SNOMED CT:23150001; MedGen:C0699790,OMIM:114500,SNOMED CT:269533000; MedGen:C0858252	14	105246551	105246551	NM_005163.2:c.49G>A	NP_005154.2:p.Glu17Lys	NC_000014.8:g.105246551C>T	OMIM Allelic Variant:164730.0001	C0858252 Breast adenocarcinoma; C0699790 114500 Carcinoma of colon; C0919267 167000 Neoplasm of ovary; C0085261 176920 Proteus syndrome