CLOVE
MCID: CNG510
MIFTS: 64

Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (CLOVE)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

MalaCards integrated aliases for Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:

Name: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 56 12 52 73 36 29 6 71
Cloves Syndrome 56 12 52 58 73 15
Clove Syndrome, Somatic 56 13 39
Clove Syndrome 56 52 73
Nevus 43 17 71
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/spinal Abnormalities 56 52
Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi and Skeletal/spinal Abnormalities 73
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome 58
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome 58
Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi 52
Congenital Arteriovenous Malformation 71
Arteriovenous Malformations 43
Arteriovenous Hemangioma 71
Benign Melanocytic Nevus 71
Melanocytic Nevus 71
Clove 73

Characteristics:

Orphanet epidemiological data:

58
cloves syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
somatic mosaicism

Miscellaneous:
clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi


HPO:

31
congenital lipomatous overgrowth, vascular malformations, and epidermal nevi:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080351
OMIM 56 612918
KEGG 36 H01912
ICD10 32 Q87.3
ICD10 via Orphanet 33 Q87.3
Orphanet 58 ORPHA140944
MedGen 41 C2752042
UMLS 71 C0003857 C0027960 C0027962 more

Summaries for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

KEGG : 36 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progressive or distorting bony overgrowth. The key feature of this syndrome is a truncal lipomatous mass of variable size that is noted at birth. The fatty growths often extend from the trunk into the retroperitoneum, mediastinum, thoracic cavity, and epidural space. Deeper fast-flow and slow-flow vascular anomalies become evident early in childhood. Most acral deformities become accentuated with growth, are often symmetrical, are not rapidly progressive, and are commonly misdiagnosed as Proteus syndrome. This syndrome is caused by somatic activating mutations in PIK3CA.

MalaCards based summary : Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi, also known as cloves syndrome, is related to arteriovenous malformations of the brain and pulmonary arteriovenous malformation, and has symptoms including seizures, edema and pruritus. An important gene associated with Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are mTOR signaling pathway and PI3K-Akt signaling pathway. The drugs Dexmedetomidine and Sufentanil have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and related phenotypes are hemihypertrophy and lipoma

Disease Ontology : 12 A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has material basis in somatic mosaicism for postzygotic activiating mutations in the PIK3CA gene on chromosome 3q26.

NIH Rare Diseases : 52 CLOVES syndrome is a rare condition that is primarily characterized by congenital overgrowth of fatty tissue ; malformations of the vascular system (the vessels that carry blood and lymph throughout the body); epidermal nevi ; and spinal or skeletal abnormalities. Other signs and symptoms may include disproportionate fat distribution, overgrowth of the extremities (arms and legs), skin abnormalities and kidney problems such as an unusually small or absent kidney. The severity of the condition and the associated signs and symptoms vary significantly from person to person. CLOVES syndrome is caused by somatic mutations in the PIK3CA gene . Because these mutations do not affect egg or sperm cells , the condition is not passed on from parent to child. Treatment is based on the signs and symptoms present in each person.

UniProtKB/Swiss-Prot : 73 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi: A sporadically occurring, non-hereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. It is defined by four main clinical findings: congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities. The presence of truncal overgrowth and characteristic patterned macrodactyly at birth differentiates CLOVE from other syndromic forms of overgrowth.

Wikipedia : 74 CLOVES syndrome is an extremely rare overgrowth syndrome with complex vascular anomalies. CLOVES... more...

More information from OMIM: 612918

Related Diseases for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

Diseases related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1442, show less)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformations of the brain 34.7 PECAM1 ENG ACVRL1
2 pulmonary arteriovenous malformation 34.7 ENG ACVRL1
3 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 33.7 ENG ACVRL1
4 stroke, ischemic 32.1 PIK3CA PECAM1 ENG AKT1
5 klippel-trenaunay-weber syndrome 32.1 PROS1 PIK3CA GNAQ AKT1
6 melanoma, cutaneous malignant 1 32.1 PIK3CA GNAQ AKT3 AKT1
7 megalencephaly-capillary malformation-polymicrogyria syndrome 31.8 PIK3R2 PIK3CA AKT3
8 weber syndrome 31.0 GNAQ ENG ACVRL1
9 hemimegalencephaly 30.9 PIK3CA AKT3
10 hepatopulmonary syndrome 30.6 ENG AKT1 ACVRL1
11 macrodactyly 30.5 TSC1 PIK3CA
12 megalencephaly 30.4 PIK3R2 PIK3CA AKT3
13 meningioma, familial 30.4 PIK3CA PECAM1 AKT3 AKT1
14 pulmonary hypertension, primary, 1 30.4 ENG ACVRL1
15 melanoma, uveal 30.1 PIK3CA GNAQ ENG AKT1
16 polymicrogyria 29.9 PIK3R2 PIK3CA AKT3
17 cystic lymphangioma 29.9 PIK3CA PECAM1
18 hypomelanosis of ito 29.6 GNAQ AKT3
19 tuberous sclerosis 1 29.5 TSC1 AKT3 AKT1
20 renal cell carcinoma, nonpapillary 29.4 TSC1 PIK3CA PECAM1 ENG AKT1
21 hemangioma 29.3 PECAM1 GNAQ ENG AKT1
22 thymoma 29.1 PIK3CA AKT3 AKT2 AKT1
23 tuberous sclerosis 28.8 TSC1 PIK3CG PIK3CA AKT1
24 glioblastoma multiforme 28.5 TSC1 PIK3R2 PIK3CA PECAM1 AKT3 AKT2
25 proteus syndrome 28.5 TSC1 PROS1 PIK3R2 PIK3CA GNAQ AKT3
26 cowden syndrome 1 28.4 TSC1 PIK3R2 PIK3CA AKT3 AKT2 AKT1
27 lung cancer susceptibility 3 28.2 PIK3CG PIK3CA PECAM1 AKT2 AKT1
28 cowden syndrome 27.7 TSC1 PIK3R2 PIK3CG PIK3CA AKT3 AKT2
29 endometrial cancer 27.6 PIK3R2 PIK3CG PIK3CA ENG AKT3 AKT2
30 nevus, epidermal 27.3 PROS1 PIK3R2 PIK3CG PIK3CA GNAQ AKT3
31 capillary malformation-arteriovenous malformation 1 13.0
32 arteriovenous malformation 13.0
33 capillary malformation-arteriovenous malformation 2 12.9
34 large congenital melanocytic nevus 12.8
35 melanocytic nevus syndrome, congenital 12.8
36 white sponge nevus 1 12.8
37 becker nevus syndrome 12.7
38 extracranial arteriovenous malformation 12.7
39 nevus comedonicus 12.7
40 basal cell nevus syndrome 12.7
41 blue rubber bleb nevus 12.7
42 tièche-jadassohn nevus 12.6
43 dysplastic nevus syndrome 12.6
44 mandibular arteriovenous malformation 12.6
45 facial arteriovenous malformation 12.6
46 maxillary arteriovenous malformation 12.6
47 spitz nevus 12.6
48 white sponge nevus 2 12.5
49 rare arteriovenous malformation 12.5
50 porokeratotic eccrine ostial and dermal duct nevus 12.5
51 schimmelpenning-feuerstein-mims syndrome 12.5
52 halo nevus 12.5
53 melanoma in congenital melanocytic nevus 12.5
54 nevus anemicus 12.4
55 frontonasal arteriovenous malformation 12.4
56 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.4
57 epidermolytic nevus 12.3
58 conjunctival nevus 12.3
59 nevus mucinosis 12.3
60 nevus flammeus of nape of neck 12.2
61 pulmonary arteriovenous fistulas 12.2
62 congenital panfollicular nevus 12.2
63 angora hair nevus 12.2
64 rare nevus 12.2
65 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 12.1
66 verrucous nevus acanthokeratolytic 12.1
67 vein of galen aneurysm 12.1
68 craniosynostosis exostoses nevus epibulbar dermoid 12.1
69 epidermal nevus vitamin d resistant rickets 12.1
70 linear verrucous nevus syndrome 12.1
71 cobb syndrome 12.0
72 hereditary hemorrhagic telangiectasia 12.0
73 elastoma 11.9
74 papular epidermal nevi with skyline basal cell layers syndrome 11.9
75 wyburn-mason syndrome 11.9
76 carney complex variant 11.9
77 palmoplantar keratoderma, epidermolytic 11.8
78 nevoid hypermelanosis, linear and whorled 11.8
79 telangiectasia, hereditary hemorrhagic, type 1 11.8
80 encephalocraniocutaneous lipomatosis 11.8
81 telangiectasia, hereditary hemorrhagic, type 2 11.7
82 phacomatosis pigmentovascularis 11.7
83 scalp syndrome 11.7
84 dural sinus malformation 11.6
85 pik3ca-related overgrowth spectrum 11.6
86 parkes weber syndrome 11.6
87 melanoma, cutaneous malignant 10 11.6
88 cerebral cavernous malformations 11.6
89 cauda equina syndrome 11.6
90 phacomatosis pigmentokeratotica 11.6
91 foix-alajouanine syndrome 11.6
92 melanosis, neurocutaneous 11.6
93 phakomatosis pigmentokeratotica 11.5
94 superficial siderosis of the central nervous system 11.5
95 stork bite 11.5
96 telangiectasia, hereditary hemorrhagic, type 4 11.5
97 telangiectasia, hereditary hemorrhagic, type 5 11.5
98 familial woolly hair syndrome 11.4
99 spitzoid melanoma 11.4
100 mongolian spot 11.4
101 halo nevi 11.4
102 papular elastorrhexis 11.4
103 basaloid follicular hamartoma 11.4
104 didymosis aplasticosebacea 11.4
105 verruciform xanthoma of skin 11.4
106 cutis marmorata telangiectatica congenita 11.4
107 nevada syndrome 11.4
108 melanoma, cutaneous malignant 2 11.4
109 basal cell carcinoma 1 11.4
110 collagenoma, familial cutaneous 11.4
111 dyskeratosis, hereditary benign intraepithelial 11.4
112 skin creases, congenital symmetric circumferential, 1 11.4
113 venous malformations, multiple cutaneous and mucosal 11.4
114 bohring-opitz syndrome 11.3
115 shashi-pena syndrome 11.3
116 noonan syndrome 1 11.2
117 hemorrhage, intracerebral 11.2
118 oculoectodermal syndrome 11.2
119 basel-vanagaite-smirin-yosef syndrome 11.1
120 telangiectasis 11.0
121 naegeli-franceschetti-jadassohn syndrome 11.0
122 ritscher-schinzel syndrome 1 11.0
123 epilepsy with bilateral occipital calcifications 11.0
124 blue nevi, familial multiple 11.0
125 melanoma, cutaneous malignant 3 11.0
126 melanoma, cutaneous malignant 5 11.0
127 melanoma, cutaneous malignant 6 11.0
128 melanoma, cutaneous malignant 8 11.0
129 melanoma, cutaneous malignant 9 11.0
130 perching syndrome 11.0
131 ring chromosome 7 11.0
132 aneurysm 11.0
133 melanoma 10.9
134 hydrocephalus 10.8
135 cerebrofacial arteriovenous metameric syndrome 10.7
136 headache 10.7
137 cyanosis, transient neonatal 10.7
138 cerebral aneurysms 10.7
139 congestive heart failure 10.7
140 skin melanoma 10.6
141 aphasia 10.6
142 exophthalmos 10.6
143 syringocystadenoma papilliferum 10.6
144 varicose veins 10.6
145 intracranial hypertension 10.5
146 portal hypertension 10.5
147 migraine with or without aura 1 10.5
148 trigeminal neuralgia 10.5
149 pulmonary hypertension 10.5
150 thrombosis 10.5
151 paraplegia 10.5
152 pik3ca-related segmental overgrowth 10.5
153 overgrowth syndrome 10.5
154 lentigines 10.5
155 vascular disease 10.5
156 vitiligo-associated multiple autoimmune disease susceptibility 6 10.5
157 vitiligo-associated multiple autoimmune disease susceptibility 1 10.5
158 moyamoya disease 1 10.5
159 intracranial aneurysm 10.5
160 brain edema 10.5
161 thrombophilia due to thrombin defect 10.5
162 obstructive hydrocephalus 10.5
163 cerebrovascular disease 10.5
164 meningioma, radiation-induced 10.4
165 spinal meningioma 10.4
166 secretory meningioma 10.4
167 lymphoplasmacyte-rich meningioma 10.4
168 hemiplegia 10.4
169 ataxia and polyneuropathy, adult-onset 10.4
170 papilledema 10.4
171 epilepsy 10.4
172 hypertrichosis 10.4
173 angiodysplasia 10.4
174 single ventricular heart 10.4
175 back pain 10.4
176 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.4
177 scoliosis 10.4
178 visual epilepsy 10.4
179 encephalomalacia 10.4
180 seizure disorder 10.4
181 patent foramen ovale 10.3
182 heart septal defect 10.3
183 glioma 10.3
184 glial tumor 10.3
185 rickets 10.3
186 iron metabolism disease 10.3
187 epidermolytic hyperkeratosis 10.3
188 kaposi sarcoma 10.3
189 ectopic pregnancy 10.3
190 duodenal ulcer 10.3
191 polycythemia 10.3
192 vasculitis 10.3
193 specific language disorder 10.3
194 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 10.3 PIK3R2 AKT3
195 autosomal dominant epidermolytic ichthyosis 10.3
196 heart disease 10.3
197 pica disease 10.3
198 acute pancreatitis 10.3
199 heterotaxy 10.3
200 breast juvenile papillomatosis 10.3 PIK3CA AKT1
201 glomeruloid hemangioma 10.3 PECAM1 ENG
202 lipomatosis, multiple 10.3
203 cardiac arrest 10.3
204 atrial heart septal defect 10.3
205 transient cerebral ischemia 10.3
206 ischemia 10.3
207 adenoma 10.3
208 neurofibromatosis 10.3
209 head injury 10.3
210 breast sarcoma 10.3 PIK3CA PECAM1
211 cutis verticis gyrata 10.3
212 capillary lymphangioma 10.3 PECAM1 ENG
213 colitis 10.3
214 pleomorphic lipoma 10.3
215 quadriplegia 10.3
216 active peptic ulcer disease 10.3
217 angioosteohypertrophic syndrome 10.3
218 focal dermal hypoplasia 10.3
219 skin carcinoma 10.3
220 rare tumor 10.3
221 superficial spreading melanoma 10.2
222 hemifacial spasm, familial 10.2
223 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
224 deficiency anemia 10.2
225 hydronephrosis 10.2
226 cavernous hemangioma 10.2
227 pancreatitis 10.2
228 angiomatosis 10.2
229 cavernous malformation 10.2
230 hemifacial spasm 10.2
231 nodular malignant melanoma 10.2
232 keratoacanthoma 10.2
233 inverted follicular keratosis 10.2
234 cataract 10.2
235 ichthyosis 10.2
236 sebaceous adenocarcinoma 10.2
237 sturge-weber syndrome 10.2
238 patent ductus arteriosus 1 10.2
239 migraine with aura 10.2
240 pleurisy 10.2
241 iron deficiency anemia 10.2
242 astrocytoma 10.2
243 oligodendroglioma 10.2
244 hemangioblastoma 10.2
245 48,xyyy 10.2
246 tremor 10.2
247 rhabdomyosarcoma 10.2
248 rapidly involuting congenital hemangioma 10.2
249 cerebrofacial arteriovenous metameric syndrome type 3 10.2
250 cerebrofacial arteriovenous metameric syndrome type 1 10.2
251 congenital systemic arteriovenous fistula 10.2
252 juvenile nasopharyngeal angiofibroma 10.2 PECAM1 ENG
253 hypophosphatemic rickets, x-linked recessive 10.2
254 yemenite deaf-blind hypopigmentation syndrome 10.2
255 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.2
256 ischemic colitis 10.2
257 osteomyelitis 10.2
258 sarcoma 10.2
259 varicocele 10.2
260 retinal vein occlusion 10.2
261 spindle cell sarcoma 10.2
262 intracranial embolism 10.2
263 infertility 10.2
264 cluster headache 10.2
265 rare lymphatic malformation 10.2
266 virus-associated trichodysplasia spinulosa 10.2
267 meningeal melanocytoma 10.2
268 molluscum contagiosum 10.2
269 neurofibromatosis, type ii 10.2
270 retinal detachment 10.2
271 malignant conjunctival melanoma 10.2
272 ocular melanoma 10.2
273 epidermolysis bullosa 10.2
274 pulmonary edema 10.2
275 candidiasis 10.2
276 heritable pulmonary arterial hypertension 10.2 ENG ACVRL1
277 anisocoria 10.1
278 3-methylglutaconic aciduria, type iii 10.1
279 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
280 facial paralysis 10.1
281 central retinal vein occlusion 10.1
282 choriocarcinoma 10.1
283 radiculopathy 10.1
284 dystonia 10.1
285 alopecia 10.1
286 paresthesia 10.1
287 west syndrome 10.1
288 lichen planus 10.1
289 trichofolliculoma 10.1
290 incontinentia pigmenti 10.1
291 hereditary melanoma 10.1
292 hereditary hypophosphatemic rickets 10.1
293 kearns-sayre syndrome 10.1
294 pain agnosia 10.1
295 endocarditis 10.1
296 pulsating exophthalmos 10.1
297 leiomyoma 10.1
298 optic nerve disease 10.1
299 retinal vascular disease 10.1
300 malignant glioma 10.1
301 macular retinal edema 10.1
302 kidney disease 10.1
303 neurofibroma 10.1
304 pathologic nystagmus 10.1
305 hemophilia 10.1
306 chiari malformation 10.1
307 pontine hemorrhage 10.1
308 chronic pain 10.1
309 dysphagia 10.1
310 posttransplant acute limbic encephalitis 10.1
311 acanthosis nigricans 10.1
312 macrocephaly/megalencephaly syndrome, autosomal recessive 10.1
313 microphthalmia 10.1
314 ectropion 10.1
315 porokeratosis 10.1
316 folliculitis 10.1
317 fibroma 10.1
318 cytokine deficiency 10.1
319 angiokeratoma of fordyce 10.1 PECAM1 GNAQ
320 cogan-reese syndrome 10.1
321 clear cell acanthoma 10.1
322 acanthoma 10.1
323 eccrine acrospiroma 10.1
324 lentigo maligna melanoma 10.1
325 chiari malformation type i 10.1
326 intussusception 10.1
327 down syndrome 10.1
328 intracranial hypertension, idiopathic 10.1
329 myocardial infarction 10.1
330 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
331 angiosarcoma 10.1
332 apraxia 10.1
333 venous insufficiency 10.1
334 suppression amblyopia 10.1
335 amblyopia 10.1
336 pre-eclampsia 10.1
337 amnestic disorder 10.1
338 respiratory failure 10.1
339 esophageal varix 10.1
340 neurogenic bladder 10.1
341 hypothyroidism 10.1
342 capillary hemangioma 10.1
343 lipomatosis 10.1
344 pituitary adenoma 10.1
345 trophoblastic neoplasm 10.1
346 placenta accreta 10.1
347 ureteral obstruction 10.1
348 hemoglobinuria 10.1
349 scotoma 10.1
350 hemorrhoid 10.1
351 myoclonus 10.1
352 syncope 10.1
353 traumatic brain injury 10.1
354 congenital arteriovenous fistula 10.1
355 epidermoid cysts 10.0
356 buschke-ollendorff syndrome 10.0
357 hypophosphatemia 10.0
358 spina bifida occulta 10.0
359 syringoma 10.0
360 cystadenoma 10.0
361 apocrine adenoma 10.0
362 angiokeratoma 10.0
363 apocrine adenocarcinoma 10.0
364 acral lentiginous melanoma 10.0
365 malignant choroid melanoma 10.0
366 albinism 10.0
367 leukoplakia 10.0
368 autosomal dominant non-syndromic intellectual disability 19 10.0 AKT3 AKT2
369 lymphangioma 10.0
370 pulmonary embolism 10.0
371 lichen sclerosus et atrophicus 10.0
372 xeroderma pigmentosum, variant type 10.0
373 open-angle glaucoma 10.0
374 osteopoikilosis 10.0
375 pigmented basal cell carcinoma 10.0
376 malignant peripheral nerve sheath tumor 10.0
377 localized scleroderma 10.0
378 keloid disorder 10.0
379 erythrokeratoderma ''en cocardes'' 10.0
380 argyria 10.0
381 triiodothyronine receptor auxiliary protein 10.0
382 allergic rhinitis 10.0
383 bacterial infectious disease 10.0
384 allergic hypersensitivity disease 10.0
385 relapsing fever 10.0
386 alveolar periostitis 10.0
387 dental caries 10.0
388 vaginitis 10.0
389 dermatitis 10.0
390 lipid metabolism disorder 10.0
391 hyperglycemia 10.0
392 rhinitis 10.0
393 periodontitis 10.0
394 amyotrophic lateral sclerosis 1 10.0
395 hand skill, relative 10.0
396 medulloblastoma 10.0
397 neurofibromatosis, type i 10.0
398 ruvalcaba syndrome 10.0
399 arachnoid cysts, intracranial 10.0
400 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0
401 hemophilia a 10.0
402 patent ductus venosus 10.0
403 lipomyelomeningocele 10.0
404 intraocular pressure quantitative trait locus 10.0
405 angina pectoris 10.0
406 inflammatory bowel disease 10.0
407 brain meningioma 10.0
408 hereditary lymphedema i 10.0
409 urolithiasis 10.0
410 intracranial abscess 10.0
411 siderosis 10.0
412 abducens nerve disease 10.0
413 goiter 10.0
414 von willebrand's disease 10.0
415 dilated cardiomyopathy 10.0
416 eclampsia 10.0
417 communicating hydrocephalus 10.0
418 thrombocytopenia 10.0
419 mitral valve stenosis 10.0
420 neuroma 10.0
421 constipation 10.0
422 lateral sclerosis 10.0
423 cystic kidney disease 10.0
424 acute kidney failure 10.0
425 neurilemmoma 10.0
426 myelitis 10.0
427 cranial nerve palsy 10.0
428 thrombophlebitis 10.0
429 mutism 10.0
430 movement disease 10.0
431 pleomorphic xanthoastrocytoma 10.0
432 cerebral angioma 10.0
433 compartment syndrome 10.0
434 intestinal obstruction 10.0
435 speech disorder 10.0
436 acute myocardial infarction 10.0
437 hypereosinophilic syndrome 10.0
438 amaurosis fugax 10.0
439 anaplastic oligodendroglioma 10.0
440 hemangioendothelioma 10.0
441 spastic paraparesis 10.0
442 spasticity 10.0
443 superficial siderosis 10.0
444 albinism, ocular, with late-onset sensorineural deafness 10.0 AKT3 AKT2
445 pilomatrixoma 10.0
446 diastematomyelia 10.0
447 mycosis fungoides 10.0
448 oculocutaneous albinism 10.0
449 embryonal rhabdomyosarcoma 10.0
450 hidrocystoma 10.0
451 hidradenoma 10.0
452 clear cell sarcoma 10.0
453 embryoma 10.0
454 meningeal melanoma 10.0
455 malignant iris melanoma 10.0
456 proliferating trichilemmal cyst 10.0
457 cell type benign neoplasm 9.9 PECAM1 AKT1 ACVRL1
458 darier-white disease 9.9
459 hypertelorism 9.9
460 retinoblastoma 9.9
461 retinitis pigmentosa 9.9
462 macular degeneration, age-related, 1 9.9
463 dermatofibrosarcoma protuberans 9.9
464 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 9.9
465 meningocele 9.9
466 prostatic hypertrophy 9.9
467 calcinosis 9.9
468 prostatic adenoma 9.9
469 malignant spindle cell melanoma 9.9
470 liposarcoma 9.9
471 mastocytosis 9.9
472 mast cell neoplasm 9.9
473 juvenile xanthogranuloma 9.9
474 epidermolysis bullosa simplex 9.9
475 familial retinoblastoma 9.9
476 extracutaneous mastocytoma 9.9
477 nsdhl-related disorders 9.9
478 basal cell carcinoma, multiple 9.9
479 ovarian fibroma 9.9
480 alagille syndrome 1 9.9
481 coarctation of aorta 9.9
482 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.9
483 diabetes mellitus, noninsulin-dependent 9.9
484 hypercholesterolemia, familial, 1 9.9
485 leiomyoma, uterine 9.9
486 meckel diverticulum 9.9
487 polykaryocytosis inducer 9.9
488 juvenile polyposis syndrome 9.9
489 sarcoidosis 1 9.9
490 chromosome 2q35 duplication syndrome 9.9
491 diabetes mellitus, type i 9.9
492 hemangiopericytoma, malignant 9.9
493 hydrops fetalis, nonimmune 9.9
494 proteasome-associated autoinflammatory syndrome 1 9.9
495 polycythemia vera 9.9
496 inflammatory bowel disease 1 9.9
497 asplenia, isolated congenital 9.9
498 branchiootic syndrome 1 9.9
499 rheumatoid arthritis, systemic juvenile 9.9
500 tricuspid atresia 9.9
501 gastrointestinal stromal tumor 9.9
502 pulmonary disease, chronic obstructive 9.9
503 alacrima, achalasia, and mental retardation syndrome 9.9
504 visceral heterotaxy 9.9
505 metabolic acidosis 9.9
506 paraganglioma 9.9
507 atrioventricular block 9.9
508 focal dystonia 9.9
509 hemidystonia 9.9
510 sleep apnea 9.9
511 chronic venous insufficiency 9.9
512 umbilical hernia 9.9
513 bone resorption disease 9.9
514 polycystic kidney disease 9.9
515 cerebral artery occlusion 9.9
516 partial third-nerve palsy 9.9
517 horner's syndrome 9.9
518 infant gynecomastia 9.9
519 portal vein thrombosis 9.9
520 dieulafoy lesion 9.9
521 detrusor sphincter dyssynergia 9.9
522 acoustic neuroma 9.9
523 gynecomastia 9.9
524 carotid stenosis 9.9
525 dementia 9.9
526 periventricular leukomalacia 9.9
527 amenorrhea 9.9
528 alcohol use disorder 9.9
529 renovascular hypertension 9.9
530 ventricular septal defect 9.9
531 status epilepticus 9.9
532 cerebral palsy 9.9
533 rectum cancer 9.9
534 gangliocytoma 9.9
535 basal cell carcinoma 9.9
536 transitional cell carcinoma 9.9
537 dyskeratosis congenita 9.9
538 acquired polycythemia 9.9
539 pulmonary tuberculosis 9.9
540 grade iii astrocytoma 9.9
541 teratoma 9.9
542 temporal lobe epilepsy 9.9
543 sagittal sinus thrombosis 9.9
544 pleural empyema 9.9
545 tricuspid valve insufficiency 9.9
546 dysgraphia 9.9
547 nominal aphasia 9.9
548 benign ependymoma 9.9
549 spindle cell hemangioma 9.9
550 gerstmann syndrome 9.9
551 prosopagnosia 9.9
552 cellular ependymoma 9.9
553 choriocarcinoma of the testis 9.9
554 mature teratoma 9.9
555 chiasmal syndrome 9.9
556 hemolytic anemia 9.9
557 double outlet right ventricle 9.9
558 amphetamine abuse 9.9
559 spinal stenosis 9.9
560 fibrillary astrocytoma 9.9
561 astroblastoma 9.9
562 muscular atrophy 9.9
563 end stage renal disease 9.9
564 carotid artery occlusion 9.9
565 arthritis 9.9
566 neuropathy 9.9
567 vascular dementia 9.9
568 learning disability 9.9
569 amyloidosis 9.9
570 ocular hypertension 9.9
571 cleft lip 9.9
572 cholangitis 9.9
573 meningitis 9.9
574 fasciitis 9.9
575 alopecia areata 9.9
576 hypoplastic left heart syndrome 9.9
577 sickle cell disease 9.9
578 benign metastasizing leiomyoma 9.9
579 chromosomal triplication 9.9
580 congenital hydrocephalus 9.9
581 encephalocele 9.9
582 may-thurner syndrome 9.9
583 proteus-like syndrome 9.9
584 pyogenic granuloma 9.9
585 swyer-james syndrome 9.9
586 depression 9.9
587 brain injury 9.9
588 hypoxia 9.9
589 persistent vegetative state 9.9
590 spinal cord infarction 9.9
591 spinal cord injury 9.9
592 bicornuate uterus 9.9
593 univentricular heart 9.9
594 cardiovascular organ benign neoplasm 9.9 PECAM1 ENG AKT1 ACVRL1
595 colorectal cancer 9.9
596 hepatocellular carcinoma 9.9
597 ovarian cancer 9.9
598 keratosis, seborrheic 9.9
599 syringomyelia, noncommunicating isolated 9.9
600 lung cancer 9.9
601 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
602 hemihyperplasia, isolated 9.9
603 hydrocephalus, congenital, 1 9.9
604 wilms tumor 5 9.9
605 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 9.9
606 gastric cancer 9.9
607 ptosis 9.9
608 fibrous dysplasia 9.9
609 monocular esotropia 9.9
610 syringomyelia 9.9
611 breast adenocarcinoma 9.9
612 esotropia 9.9
613 gigantism 9.9
614 inflammatory linear verrucous epidermal nevus 9.9
615 lower limb hypertrophy 9.9
616 pik3ca-related overgrowth syndrome 9.9
617 bladder cancer 9.9
618 muir-torre syndrome 9.9
619 pachyonychia congenita 1 9.9
620 wilms tumor 1 9.9
621 papilloma of choroid plexus 9.9
622 alopecia, congenital 9.9
623 prostatic hyperplasia, benign 9.9
624 dermatitis, atopic 9.9
625 leukemia, acute lymphoblastic 9.9
626 hypertrophic scars 9.9
627 tooth agenesis 9.9
628 rasopathy 9.9
629 osteomalacia 9.9
630 cholesteatoma of middle ear 9.9
631 scleral staphyloma 9.9
632 panniculitis 9.9
633 skin benign neoplasm 9.9
634 mammary paget's disease 9.9
635 retinitis 9.9
636 systemic scleroderma 9.9
637 fibrous histiocytoma 9.9
638 leiomyoma cutis 9.9
639 spiradenoma 9.9
640 malignant syringoma 9.9
641 skin tag 9.9
642 thyroiditis 9.9
643 eccrine porocarcinoma 9.9
644 seborrheic dermatitis 9.9
645 lupus erythematosus 9.9
646 actinic keratosis 9.9
647 dermatophytosis 9.9
648 fibromatosis 9.9
649 linear lichen planus 9.9
650 pachygyria 9.9
651 prurigo nodularis 9.9
652 central precocious puberty 9.9
653 cerebral atrophy 9.9
654 regional odontodysplasia 9.9
655 essential iris atrophy 9.9
656 breast cancer 9.9
657 esophageal cancer 9.9
658 papillomatosis, confluent and reticulated 9.9
659 pneumothorax, primary spontaneous 9.9
660 lymphoma, hodgkin, classic 9.9
661 methane production 9.9
662 ocular motor apraxia 9.9
663 retinitis pigmentosa 18 9.9
664 psoriasis 5 9.9
665 lymphoma, non-hodgkin, familial 9.9
666 west nile virus 9.9
667 fatty liver disease, nonalcoholic 1 9.9
668 chikungunya 9.9
669 rocky mountain spotted fever 9.9
670 aspiration pneumonia 9.9
671 epidemic typhus 9.9
672 exanthem 9.9
673 lung abscess 9.9
674 cutaneous candidiasis 9.9
675 mucositis 9.9
676 ehrlichiosis 9.9
677 filariasis 9.9
678 eastern equine encephalitis 9.9
679 corneal edema 9.9
680 trench fever 9.9
681 spotted fever 9.9
682 anhidrosis 9.9
683 disseminated intravascular coagulation 9.9
684 pyelonephritis 9.9
685 lyme disease 9.9
686 dengue hemorrhagic fever 9.9
687 filarial elephantiasis 9.9
688 crimean-congo hemorrhagic fever 9.9
689 tick-borne relapsing fever 9.9
690 uveitis 9.9
691 acute cystitis 9.9
692 klebsiella pneumonia 9.9
693 squamous cell papilloma 9.9
694 root caries 9.9
695 oral candidiasis 9.9
696 urticaria 9.9
697 fungal infectious disease 9.9
698 pneumothorax 9.9
699 impotence 9.9
700 tularemia 9.9
701 vulvovaginal candidiasis 9.9
702 vulvovaginitis 9.9
703 papilloma 9.9
704 contact dermatitis 9.9
705 substance abuse 9.9
706 allergic contact dermatitis 9.9
707 skin papilloma 9.9
708 aspiration pneumonitis 9.9
709 skin disease 9.9
710 gastritis 9.9
711 liver cirrhosis 9.9
712 lice infestation 9.9
713 bronchitis 9.9
714 corneal ulcer 9.9
715 lung disease 9.9
716 herpes simplex 9.9
717 in situ carcinoma 9.9
718 fatty liver disease 9.9
719 encephalitis 9.9
720 babesiosis 9.9
721 yellow fever 9.9
722 47,xyy 9.9
723 acute mountain sickness 9.9
724 candida glabrata 9.9
725 b-cell non-hodgkin lymphoma 9.9
726 paracetamol poisoning 9.9
727 acute liver failure 9.9
728 thyroid carcinoma 9.9
729 heart cancer 9.8 TSC1 PECAM1
730 malignant spiradenoma 9.8 PIK3CG PIK3CA
731 anal squamous cell carcinoma 9.8 PIK3CA AKT1
732 hashimoto thyroiditis 9.8
733 ichthyosis vulgaris 9.8
734 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.8
735 mastocytosis, cutaneous 9.8
736 nipples, supernumerary 9.8
737 optic nerve hypoplasia, bilateral 9.8
738 teratoma, ovarian 9.8
739 pilonidal sinus 9.8
740 thanatophoric dysplasia, type i 9.8
741 volvulus of midgut 9.8
742 costello syndrome 9.8
743 dandy-walker syndrome 9.8
744 leprosy 3 9.8
745 pancreatic cancer 9.8
746 thymoma, familial 9.8
747 otopalatodigital syndrome, type i 9.8
748 basal cell carcinoma, infundibulocystic 9.8
749 langerhans cell histiocytosis 9.8
750 juvenile myelomonocytic leukemia 9.8
751 leukemia, chronic myeloid 9.8
752 chromosome 16p13.3 deletion syndrome, proximal 9.8
753 ras-associated autoimmune leukoproliferative disorder 9.8
754 epidermolysis bullosa, nonspecific, autosomal recessive 9.8
755 joint laxity, short stature, and myopia 9.8
756 brachydactyly 9.8
757 ocular albinism 9.8
758 early infantile epileptic encephalopathy 9.8
759 oral squamous cell carcinoma 9.8
760 porencephaly 9.8
761 cervical polyp 9.8
762 bone disease 9.8
763 x-linked chondrodysplasia punctata 2 9.8
764 endometrial hyperplasia 9.8
765 blepharophimosis 9.8
766 kuhnt-junius degeneration 9.8
767 microcephaly 9.8
768 pseudopterygium 9.8
769 enophthalmos 9.8
770 primary hyperparathyroidism 9.8
771 microcytic anemia 9.8
772 absolute glaucoma 9.8
773 myopia 9.8
774 indeterminate leprosy 9.8
775 oligohydramnios 9.8
776 renal osteodystrophy 9.8
777 hyperparathyroidism 9.8
778 anodontia 9.8
779 fox-fordyce disease 9.8
780 cholera 9.8
781 vascular cancer 9.8
782 sweat gland cancer 9.8
783 hidradenitis suppurativa 9.8
784 hidradenitis 9.8
785 granular cell tumor 9.8
786 bilirubin metabolic disorder 9.8
787 hermansky-pudlak syndrome 9.8
788 pseudohypoparathyroidism 9.8
789 superficial basal cell carcinoma 9.8
790 epidermolysis bullosa acquisita 9.8
791 pilar sheath acanthoma 9.8
792 amelanotic melanoma 9.8
793 epithelioid cell melanoma 9.8
794 granulomatous dermatitis 9.8
795 seminoma 9.8
796 optic nerve glioma 9.8
797 mixed glioma 9.8
798 focal epithelial hyperplasia 9.8
799 ovarian germ cell teratoma 9.8
800 eyelid carcinoma 9.8
801 glomangiomatosis 9.8
802 transitional meningioma 9.8
803 hyperthyroidism 9.8
804 bullous pemphigoid 9.8
805 monocytic leukemia 9.8
806 nervous system disease 9.8
807 myeloid leukemia 9.8
808 internal hemorrhoid 9.8
809 follicular mucinosis 9.8
810 bednar tumor 9.8
811 cerebellar degeneration 9.8
812 colpocephaly 9.8
813 frontal fibrosing alopecia 9.8
814 hansen's disease 9.8
815 iridocorneal endothelial syndrome 9.8
816 lymphangiectasis 9.8
817 optic pathway glioma 9.8
818 orbital varix 9.8
819 pili torti 9.8
820 tetraploidy 9.8
821 trichostasis spinulosa 9.8
822 idiopathic central precocious puberty 9.8
823 multicystic dysplastic kidney 9.8
824 congenital smooth muscle hamartoma 9.8
825 primary lymphedema 9.8
826 polyploidy 9.8
827 aortic aneurysm, familial abdominal, 1 9.8
828 cerebral amyloid angiopathy, cst3-related 9.8
829 angioma, hereditary neurocutaneous 9.8
830 aniridia 1 9.8
831 spondyloarthropathy 1 9.8
832 aplasia cutis congenita, nonsyndromic 9.8
833 arteries, anomalies of 9.8
834 atrial standstill 1 9.8
835 aortic valve disease 1 9.8
836 progressive familial heart block, type ia 9.8
837 candidiasis, familial, 1 9.8
838 cardiac arrhythmia 9.8
839 cardiac conduction defect 9.8
840 carpal tunnel syndrome 9.8
841 cleft palate, isolated 9.8
842 coloboma of macula 9.8
843 multiple sclerosis 9.8
844 dupuytren contracture 9.8
845 beckwith-wiedemann syndrome 9.8
846 exudative vitreoretinopathy 1 9.8
847 birt-hogg-dube syndrome 9.8
848 fibromuscular dysplasia 9.8
849 lymphoma, mucosa-associated lymphoid type 9.8
850 hemangioma-thrombocytopenia syndrome 9.8
851 attention deficit-hyperactivity disorder 9.8
852 keratitis, hereditary 9.8
853 melorheostosis, isolated 9.8
854 capillary malformations, congenital 9.8
855 pectus excavatum 9.8
856 pheochromocytoma 9.8
857 mccune-albright syndrome 9.8
858 pelvic organ prolapse 9.8
859 raynaud disease 9.8
860 dowling-degos disease 1 9.8
861 neural tube defects 9.8
862 spinal arachnoiditis 9.8
863 strabismus 9.8
864 testicular torsion 9.8
865 thrombocytopenic purpura, autoimmune 9.8
866 torticollis 9.8
867 ureterocele 9.8
868 chiari malformation type ii 9.8
869 autism 9.8
870 central hypoventilation syndrome, congenital 9.8
871 cystic fibrosis 9.8
872 factor v deficiency 9.8
873 gaucher disease, type i 9.8
874 abnormal hair, joint laxity, and developmental delay 9.8
875 pseudoxanthoma elasticum 9.8
876 pulmonary hypoplasia, primary 9.8
877 schizencephaly 9.8
878 wernicke-korsakoff syndrome 9.8
879 adrenoleukodystrophy 9.8
880 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.8
881 band heterotopia 9.8
882 homocysteinemia 9.8
883 polydactyly 9.8
884 progressive familial heart block, type ib 9.8
885 aneurysmal bone cysts 9.8
886 atrioventricular septal defect 9.8
887 alveolar soft part sarcoma 9.8
888 phace association 9.8
889 angioma, tufted 9.8
890 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.8
891 ectodermal dysplasia-syndactyly syndrome 2 9.8
892 graft-versus-host disease 9.8
893 leukemia, acute lymphoblastic 3 9.8
894 dysfibrinogenemia, congenital 9.8
895 striatal degeneration, autosomal dominant 2 9.8
896 chorea, childhood-onset, with psychomotor retardation 9.8
897 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.8
898 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.8
899 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.8
900 cortical dysplasia, complex, with other brain malformations 10 9.8
901 juvenile arthritis 9.8
902 speech and communication disorders 9.8
903 twin-to-twin transfusion syndrome 9.8
904 korean hemorrhagic fever 9.8
905 familial adenomatous polyposis 9.8
906 weill-marchesani syndrome 9.8
907 chorioamnionitis 9.8
908 peripheral artery disease 9.8
909 adrenal gland pheochromocytoma 9.8
910 ameloblastoma 9.8
911 extra-adrenal pheochromocytoma 9.8
912 infective endocarditis 9.8
913 autism spectrum disorder 9.8
914 atypical autism 9.8
915 writing disorder 9.8
916 anosognosia 9.8
917 visual agnosia 9.8
918 agraphia 9.8
919 atrial fibrillation 9.8
920 adams-oliver syndrome 9.8
921 basal ganglia calcification 9.8
922 inguinal hernia 9.8
923 myelomeningocele 9.8
924 desmoid tumor 9.8
925 benign teratoma 9.8
926 isolated ectopia lentis 9.8
927 postural orthostatic tachycardia syndrome 9.8
928 osteonecrosis 9.8
929 neuroretinitis 9.8
930 cholelithiasis 9.8
931 sialadenitis 9.8
932 interstitial nephritis 9.8
933 partial optic atrophy 9.8
934 renal hypertension 9.8
935 gastric ulcer 9.8
936 spastic monoplegia 9.8
937 spastic quadriplegia 9.8
938 hantavirus hemorrhagic fever with renal syndrome 9.8
939 vertebral artery occlusion 9.8
940 lens subluxation 9.8
941 corneal neovascularization 9.8
942 brain compression 9.8
943 constrictive pericarditis 9.8
944 hemopericardium 9.8
945 listeriosis 9.8
946 pericardial effusion 9.8
947 cortical blindness 9.8
948 optic neuritis 9.8
949 inflammatory spondylopathy 9.8
950 hemosiderosis 9.8
951 arachnoiditis 9.8
952 radial neuropathy 9.8
953 plica syndrome 9.8
954 male infertility 9.8
955 retinal ischemia 9.8
956 pseudobulbar palsy 9.8
957 guillain-barre syndrome 9.8
958 choreatic disease 9.8
959 persistent fetal circulation syndrome 9.8
960 branch retinal artery occlusion 9.8
961 severe pre-eclampsia 9.8
962 brain cancer 9.8
963 right bundle branch block 9.8
964 diarrhea 9.8
965 ehlers-danlos syndrome 9.8
966 alexia 9.8
967 basilar artery occlusion 9.8
968 coccidioidomycosis 9.8
969 cholestasis 9.8
970 obstructive jaundice 9.8
971 biliary atresia 9.8
972 facial neuralgia 9.8
973 sick sinus syndrome 9.8
974 splenic artery aneurysm 9.8
975 alcoholic liver cirrhosis 9.8
976 toxic shock syndrome 9.8
977 azoospermia 9.8
978 oligospermia 9.8
979 neurogenic arthropathy 9.8
980 noonan syndrome with multiple lentigines 9.8
981 pyuria 9.8
982 glossopharyngeal neuralgia 9.8
983 gonadal dysgenesis 9.8
984 thrombocytopenia due to platelet alloimmunization 9.8
985 mental depression 9.8
986 keratosis 9.8
987 cystitis 9.8
988 squamous cell carcinoma 9.8
989 pericarditis 9.8
990 neuritis 9.8
991 gaucher's disease 9.8
992 hyperostosis 9.8
993 intestinal perforation 9.8
994 ectodermal dysplasia 9.8
995 hemorrhagic disease 9.8
996 basilar artery insufficiency 9.8
997 focal epilepsy 9.8
998 spondylosis 9.8
999 motor neuron disease 9.8
1000 arteriosclerosis 9.8
1001 protein s deficiency 9.8
1002 thrombophilia 9.8
1003 splenic disease 9.8
1004 splenic infarction 9.8
1005 suppurative periapical periodontitis 9.8
1006 cystic teratoma 9.8
1007 dysembryoplastic neuroepithelial tumor 9.8
1008 myoma 9.8
1009 synovitis 9.8
1010 tic disorder 9.8
1011 endometriosis 9.8
1012 membranoproliferative glomerulonephritis 9.8
1013 glomerulonephritis 9.8
1014 severe acute respiratory syndrome 9.8
1015 adenocarcinoma 9.8
1016 gliosarcoma 9.8
1017 gingivitis 9.8
1018 vascular myelopathy 9.8
1019 angiomyolipoma 9.8
1020 purpura 9.8
1021 mesenchymal cell neoplasm 9.8
1022 histiocytosis 9.8
1023 cellulitis 9.8
1024 turner syndrome 9.8
1025 lateral medullary syndrome 9.8
1026 superior mesenteric artery syndrome 9.8
1027 cavernous sinus thrombosis 9.8
1028 sertoli cell tumor 9.8
1029 angiolipoma 9.8
1030 aortic aneurysm 9.8
1031 empty sella syndrome 9.8
1032 intermittent claudication 9.8
1033 intraventricular meningioma 9.8
1034 arthropathy 9.8
1035 craniopharyngioma 9.8
1036 liver disease 9.8
1037 agnosia 9.8
1038 pyoderma 9.8
1039 myopathy 9.8
1040 melorheostosis 9.8
1041 akinetic mutism 9.8
1042 bone giant cell tumor 9.8
1043 polyradiculopathy 9.8
1044 pustulosis of palm and sole 9.8
1045 cutaneous fibrous histiocytoma 9.8
1046 hypotrichosis 9.8
1047 retrograde amnesia 9.8
1048 intestinal benign neoplasm 9.8
1049 intramuscular hemangioma 9.8
1050 skin hemangioma 9.8
1051 ganglioneuroma 9.8
1052 adenosquamous carcinoma 9.8
1053 plexiform neurofibroma 9.8
1054 urinary tract obstruction 9.8
1055 central nervous system vasculitis 9.8
1056 epulis 9.8
1057 anterograde amnesia 9.8
1058 sleep disorder 9.8
1059 internuclear ophthalmoplegia 9.8
1060 pneumonia 9.8
1061 spinal cancer 9.8
1062 viral encephalitis 9.8
1063 spondylitis 9.8
1064 juvenile rheumatoid arthritis 9.8
1065 juvenile pilocytic astrocytoma 9.8
1066 fibrous meningioma 9.8
1067 meningothelial meningioma 9.8
1068 diverticulitis 9.8
1069 peptic ulcer disease 9.8
1070 situs inversus 9.8
1071 parathyroid adenoma 9.8
1072 neuroblastoma 9.8
1073 placenta disease 9.8
1074 frontal convexity meningioma 9.8
1075 alveoli adenoma 9.8
1076 hemarthrosis 9.8
1077 osteochondrosis 9.8
1078 mixed endometrial stromal and smooth muscle tumor 9.8
1079 appendicitis 9.8
1080 osteochondritis dissecans 9.8
1081 retinal degeneration 9.8
1082 retinal artery occlusion 9.8
1083 polyhydramnios 9.8
1084 pyoderma gangrenosum 9.8
1085 ulcerative colitis 9.8
1086 duodenitis 9.8
1087 subacute delirium 9.8
1088 chickenpox 9.8
1089 vein disease 9.8
1090 intermediate coronary syndrome 9.8
1091 neuromyelitis optica 9.8
1092 psoriasis 9.8
1093 autosomal dominant polycystic kidney disease 9.8
1094 narcolepsy 9.8
1095 mechanical strabismus 9.8
1096 hypopituitarism 9.8
1097 exposure keratitis 9.8
1098 primary ciliary dyskinesia 9.8
1099 bronchiectasis 9.8
1100 dextrocardia 9.8
1101 necrotizing fasciitis 9.8
1102 placental abruption 9.8
1103 muscular dystrophy 9.8
1104 median arcuate ligament syndrome 9.8
1105 myotonic dystrophy 9.8
1106 cerebral cavernous malformation, familial 9.8
1107 adrenomyeloneuropathy 9.8
1108 cardiac rupture 9.8
1109 central pain syndrome 9.8
1110 cerebrospinal fluid leak 9.8
1111 chronic hiccups 9.8
1112 chronic thromboembolic pulmonary hypertension 9.8
1113 congenital extrahepatic portosystemic shunt 9.8
1114 congenital lymphedema 9.8
1115 coronary artery aneurysm 9.8
1116 double discordia 9.8
1117 embryonal sarcoma 9.8
1118 horseshoe kidney 9.8
1119 intravascular papillary endothelial hyperplasia 9.8
1120 mallory-weiss syndrome 9.8
1121 mast cell activation syndrome 9.8
1122 medial medullary syndrome 9.8
1123 orbital lymphangioma 9.8
1124 preauricular sinus 9.8
1125 precocious puberty 9.8
1126 primary agammaglobulinemia 9.8
1127 primary angiitis of the central nervous system 9.8
1128 pulmonary sequestration 9.8
1129 soft tissue sarcoma 9.8
1130 syringobulbia 9.8
1131 unilateral absence of a pulmonary artery 9.8
1132 wallerian degeneration 9.8
1133 raynaud phenomenon 9.8
1134 abdominal wall defect 9.8
1135 sporadic hemiplegic migraine 9.8
1136 anoxia 9.8
1137 dysautonomia 9.8
1138 encephalopathy 9.8
1139 febrile seizures 9.8
1140 hypotonia 9.8
1141 postherpetic neuralgia 9.8
1142 cleft lip/palate 9.8
1143 inflammatory myopathy with abundant macrophages 9.8
1144 high-grade astrocytoma 9.8
1145 nevus of ota 9.8
1146 cranial neuralgia 9.8
1147 congenital vascular bone syndrome 9.8
1148 fetal anticonvulsant syndrome 9.8
1149 immune hydrops fetalis 9.8
1150 congenital hemangioma 9.8
1151 idiopathic avascular necrosis 9.8
1152 congenital portosystemic shunt 9.8
1153 angioosteohypotrophic syndrome 9.8
1154 rare vascular disease 9.8
1155 renal dysplasia 9.8
1156 solitary bone cyst 9.8
1157 cardiogenic shock 9.8
1158 atrial septal aneurysm 9.8
1159 hereditary optic neuropathy 9.8
1160 pheochromocytoma-paraganglioma 9.8
1161 malformation of the cerebellar vermis 9.8
1162 thyroid tumor 9.8
1163 invasive mole 9.8
1164 precursor t-cell acute lymphoblastic leukemia 9.8
1165 secondary syringomyelia 9.8
1166 acrokeratosis verruciformis 9.6
1167 ainhum 9.6
1168 alcohol dependence 9.6
1169 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality 9.6
1170 apnea, obstructive sleep 9.6
1171 autoimmune disease 9.6
1172 cardiofaciocutaneous syndrome 1 9.6
1173 duane retraction syndrome 1 9.6
1174 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.6
1175 epicanthus 9.6
1176 erythrokeratodermia variabilis et progressiva 1 9.6
1177 hemifacial hyperplasia 9.6
1178 fibrosis of extraocular muscles, congenital, 1 9.6
1179 frontonasal dysplasia 1 9.6
1180 hair whorl 9.6
1181 heterochromia iridis 9.6
1182 endosteal hyperostosis, autosomal dominant 9.6
1183 kabuki syndrome 1 9.6
1184 legg-calve-perthes disease 9.6
1185 leukemia, chronic lymphocytic 9.6
1186 systemic lupus erythematosus 9.6
1187 melanoma, malignant familial intraocular 9.6
1188 otitis media 9.6
1189 paget disease, extramammary 9.6
1190 benign chronic pemphigus 9.6
1191 pemphigus vulgaris, familial 9.6
1192 piebald trait 9.6
1193 rubinstein-taybi syndrome 1 9.6
1194 scleroderma, familial progressive 9.6
1195 spinocerebellar ataxia 2 9.6
1196 split-hand/foot malformation 1 9.6
1197 spondylosis, cervical 9.6
1198 teeth present at birth 9.6
1199 tetralogy of fallot 9.6
1200 uncombable hair syndrome 1 9.6
1201 renal hypodysplasia/aplasia 1 9.6
1202 muckle-wells syndrome 9.6
1203 velocardiofacial syndrome 9.6
1204 lipoid congenital adrenal hyperplasia 9.6
1205 albinism, oculocutaneous, type ii 9.6
1206 hermansky-pudlak syndrome 1 9.6
1207 alstrom syndrome 9.6
1208 anus, imperforate 9.6
1209 takayasu arteritis 9.6
1210 ataxia-telangiectasia 9.6
1211 atrophoderma vermiculata 9.6
1212 celiac disease 1 9.6
1213 ebstein anomaly 9.6
1214 eosinophilic fasciitis 9.6
1215 epidermodysplasia verruciformis 1 9.6
1216 gastroschisis 9.6
1217 megalocornea 9.6
1218 myeloma, multiple 9.6
1219 subacute sclerosing panencephalitis 9.6
1220 rhabdomyosarcoma 2 9.6
1221 sjogren-larsson syndrome 9.6
1222 xeroderma pigmentosum, complementation group a 9.6
1223 coats disease 9.6
1224 body mass index quantitative trait locus 11 9.6
1225 aicardi syndrome 9.6
1226 hypophosphatemic rickets, x-linked dominant 9.6
1227 adenomyosis 9.6
1228 psoriasis 3 9.6
1229 inflammatory bowel disease 2 9.6
1230 pallister-killian syndrome 9.6
1231 body mass index quantitative trait locus 9 9.6
1232 astigmatism 9.6
1233 body mass index quantitative trait locus 8 9.6
1234 orthostatic intolerance 9.6
1235 body mass index quantitative trait locus 1 9.6
1236 body mass index quantitative trait locus 4 9.6
1237 body mass index quantitative trait locus 10 9.6
1238 body mass index quantitative trait locus 7 9.6
1239 myopia 5, autosomal dominant 9.6
1240 skin/hair/eye pigmentation, variation in, 8 9.6
1241 body mass index quantitative trait locus 12 9.6
1242 body mass index quantitative trait locus 14 9.6
1243 pseudopseudohypoparathyroidism 9.6
1244 microvascular complications of diabetes 5 9.6
1245 tumor predisposition syndrome 9.6
1246 multiple enchondromatosis, maffucci type 9.6
1247 body mass index quantitative trait locus 18 9.6
1248 reticulate acropigmentation of kitamura 9.6
1249 pachyonychia congenita 3 9.6
1250 erythrokeratodermia variabilis et progressiva 5 9.6
1251 body mass index quantitative trait locus 19 9.6
1252 body mass index quantitative trait locus 20 9.6
1253 cutaneous lupus erythematosus 9.6
1254 erythema multiforme 9.6
1255 lissencephaly 9.6
1256 variola major 9.6
1257 lennox-gastaut syndrome 9.6
1258 autosomal recessive disease 9.6
1259 anaplastic large cell lymphoma 9.6
1260 cone dystrophy 9.6
1261 androgenic alopecia 9.6
1262 ovarian melanoma 9.6
1263 mucosal melanoma 9.6
1264 ovarian serous carcinoma 9.6
1265 lymphoma 9.6
1266 cutaneous t cell lymphoma 9.6
1267 ductal carcinoma in situ 9.6
1268 robinow syndrome 9.6
1269 oral hairy leukoplakia 9.6
1270 recessive dystrophic epidermolysis bullosa 9.6
1271 infantile myofibromatosis 9.6
1272 chronic myelomonocytic leukemia 9.6
1273 adenoid cystic carcinoma 9.6
1274 sensorineural hearing loss 9.6
1275 cysticercosis 9.6
1276 dry eye syndrome 9.6
1277 dermatomyositis 9.6
1278 intestinal atresia 9.6
1279 hypospadias 9.6
1280 spastic diplegia 9.6
1281 placenta praevia 9.6
1282 leech infestation 9.6
1283 chorioretinal scar 9.6
1284 pertussis 9.6
1285 hydrophthalmos 9.6
1286 solar retinopathy 9.6
1287 tetanus 9.6
1288 diphtheria 9.6
1289 melanoacanthoma 9.6
1290 ecthyma 9.6
1291 tinea cruris 9.6
1292 neutropenia 9.6
1293 conjunctival pigmentation 9.6
1294 intermittent proptosis 9.6
1295 leukemia 9.6
1296 skin sarcoidosis 9.6
1297 polyneuropathy 9.6
1298 iritis 9.6
1299 childhood type dermatomyositis 9.6
1300 primary hypertrophic osteoarthropathy 9.6
1301 nodular nonsuppurative panniculitis 9.6
1302 neovascular glaucoma 9.6
1303 neuroendocrine tumor 9.6
1304 facial hemiatrophy 9.6
1305 cheilitis 9.6
1306 hepatitis c 9.6
1307 malignant skin fibrous histiocytoma 9.6
1308 malignant fibrous histiocytoma 9.6
1309 leiomyosarcoma 9.6
1310 benign giant cell tumor 9.6
1311 nodular hidradenoma 9.6
1312 vulvar melanoma 9.6
1313 craniosynostosis 9.6
1314 neonatal jaundice 9.6
1315 cutaneous ganglioneuroma 9.6
1316 glomus tumor 9.6
1317 hereditary spastic paraplegia 9.6
1318 hemangioma of spleen 9.6
1319 sebaceous adenoma 9.6
1320 chondroblastoma 9.6
1321 phimosis 9.6
1322 acrodermatitis 9.6
1323 skin atrophy 9.6
1324 irritant dermatitis 9.6
1325 endometrial adenocarcinoma 9.6
1326 cockayne syndrome 9.6
1327 breast ductal carcinoma 9.6
1328 papillary carcinoma 9.6
1329 plexiform schwannoma 9.6
1330 complex regional pain syndrome 9.6
1331 pleomorphic rhabdomyosarcoma 9.6
1332 vaccinia 9.6
1333 embryonal carcinoma 9.6
1334 palmoplantar keratosis 9.6
1335 neurofibrosarcoma 9.6
1336 diffuse lipomatosis 9.6
1337 bladder urothelial carcinoma 9.6
1338 spindle cell carcinoma 9.6
1339 pancreatic adenocarcinoma 9.6
1340 tick infestation 9.6
1341 ganglioneuroblastoma 9.6
1342 carcinosarcoma 9.6
1343 fibroepithelial basal cell carcinoma 9.6
1344 epidermolytic acanthoma 9.6
1345 myofibroma 9.6
1346 reticulohistiocytic granuloma 9.6
1347 spongiotic dermatitis 9.6
1348 dyslexia 9.6
1349 orofaciodigital syndrome 9.6
1350 mucoepidermoid carcinoma 9.6
1351 endophthalmitis 9.6
1352 perineurioma 9.6
1353 gorham's disease 9.6
1354 cerebellar astrocytoma 9.6
1355 tubular adenocarcinoma 9.6
1356 epidermolysis bullosa dystrophica 9.6
1357 elephantiasis 9.6
1358 thyroid gland disease 9.6
1359 myoblastoma 9.6
1360 subependymal giant cell astrocytoma 9.6
1361 ganglioglioma 9.6
1362 cutaneous leiomyosarcoma 9.6
1363 brain angioma 9.6
1364 clear cell hidradenoma 9.6
1365 sarcomatoid squamous cell skin carcinoma 9.6
1366 retinal disease 9.6
1367 mixed liposarcoma 9.6
1368 nephrolithiasis 9.6
1369 angiokeratoma circumscriptum 9.6
1370 gliomatosis cerebri 9.6
1371 central nervous system lipoma 9.6
1372 acquired immunodeficiency syndrome 9.6
1373 connective tissue disease 9.6
1374 posterior uveal melanoma 9.6
1375 ceruminoma 9.6
1376 gallbladder melanoma 9.6
1377 follicular infundibulum tumor 9.6
1378 measles 9.6
1379 smallpox 9.6
1380 chorioretinitis 9.6
1381 pityriasis rosea 9.6
1382 tinea nigra 9.6
1383 pityriasis versicolor 9.6
1384 pemphigus 9.6
1385 waardenburg's syndrome 9.6
1386 intrinsic asthma 9.6
1387 otitis externa 9.6
1388 refractive error 9.6
1389 hypotropia 9.6
1390 hydrocele 9.6
1391 lymph node disease 9.6
1392 bap1 tumor predisposition syndrome 9.6
1393 bier spots 9.6
1394 blastic plasmacytoid dendritic cell 9.6
1395 bowen's disease 9.6
1396 cerebellar agenesis 9.6
1397 cutaneous mastocytoma 9.6
1398 cutaneous-skeletal hypophosphatemia syndrome 9.6
1399 cystic adenomatoid malformation of lung 9.6
1400 dendritic cell tumor 9.6
1401 diencephalic syndrome 9.6
1402 dwarfism 9.6
1403 grover's disease 9.6
1404 growth hormone deficiency 9.6
1405 ledderhose disease 9.6
1406 linear porokeratosis 9.6
1407 lipedematous scalp 9.6
1408 lymphangiomatosis 9.6
1409 malignant cylindroma 9.6
1410 neural crest tumor 9.6
1411 oncogenic osteomalacia 9.6
1412 oral leukoplakia 9.6
1413 pseudo-turner syndrome 9.6
1414 punctate porokeratosis 9.6
1415 st anthony's fire 9.6
1416 stevens-johnson syndrome/toxic epidermal necrolysis 9.6
1417 wells syndrome 9.6
1418 bunion 9.6
1419 fainting 9.6
1420 subacute cutaneous lupus erythematosus 9.6
1421 cap polyposis 9.6
1422 epignathus 9.6
1423 epithelioid hemangioendothelioma 9.6
1424 isolated split hand-split foot malformation 9.6
1425 occipital encephalocele 9.6
1426 rare venous malformation 9.6
1427 hereditary periodic fever syndrome 9.6
1428 amelia 9.6
1429 primary cutaneous anaplastic large cell lymphoma 9.6
1430 cerebral visual impairment 9.6
1431 keratocystic odontogenic tumor 9.6
1432 segmental odontomaxillary dysplasia 9.6
1433 lichen amyloidosis 9.6
1434 peripapillary staphyloma 9.6
1435 premature aging 9.6
1436 phakomatosis cesioflammea 9.6
1437 pili gemini 9.6
1438 inherited epidermolysis bullosa 9.6
1439 microtia 9.6
1440 mills syndrome 9.6
1441 secondary ectropion 9.6
1442 insulin-like growth factor i 9.4 PIK3CG AKT2 AKT1

Graphical network of the top 20 diseases related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:



Diseases related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

Symptoms & Phenotypes for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

Human phenotypes related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:

31 (showing 15, show less)
# Description HPO Frequency HPO Source Accession
1 hemihypertrophy 31 obligate (100%) HP:0001528
2 lipoma 31 frequent (33%) HP:0012032
3 scoliosis 31 occasional (7.5%) HP:0002650
4 renal hypoplasia/aplasia 31 occasional (7.5%) HP:0008678
5 tethered cord 31 occasional (7.5%) HP:0002144
6 lower limb asymmetry 31 occasional (7.5%) HP:0100559
7 spinal dysraphism 31 occasional (7.5%) HP:0010301
8 splenomegaly 31 HP:0001744
9 sandal gap 31 HP:0001852
10 facial asymmetry 31 HP:0000324
11 macrodactyly 31 HP:0004099
12 cranial hyperostosis 31 HP:0004437
13 overgrowth 31 HP:0001548
14 venous malformation 31 HP:0012721
15 capillary malformation 31 HP:0025104

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly
cysts in spleen

Skeletal Skull:
hyperostosis

Cardiovascular Vascular:
capillary malformation
arteriovenous malformation, progressive, with cutaneous involvement
lymphatic malformation, low flow (in most cases)
venous malformation, low flow (in most cases)
paraspinal arteriovenous malformations, high-flow (in some patients)
more
Genitourinary Kidneys:
renal agenesis (in some patients)
renal hypoplasia (in some patients)

Genitourinary Internal Genitalia Male:
testicular cysts

Skeletal Hands:
palmar overgrowth
wide hands (most cases)
windswept hand (rare)
macrodactyly (in some patients)

Muscle Soft Tissue:
lipomas or lipomatous masses (most cases)
lipohypoplasia, regional

Head And Neck Face:
facial asymmetry

Skeletal Feet:
macrodactyly
plantar overgrowth
wide feet (most cases)
furrowed sole
sandal gap, wide
more
Skeletal Spine:
vertebral anomalies
scoliosis (in some patients)
megaspondylodysplasia

Growth Other:
prenatal overgrowth
hemihypertrophy (major feature)

Skeletal Limbs:
asymmetric lower limb growth (in some patients)
chondromalacia patellae (rare)
dislocated knees (rare)

Skin Nails Hair Skin:
linear epidermal nevus (in some patients)
multiple small nevi (rare)

Neurologic Central Nervous System:
neural tube defect (in some patients)
tethered cord (rare)
spasticity/paresis (rare)

Clinical features from OMIM:

612918

UMLS symptoms related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:


seizures, edema, pruritus, macule, tremor, chest pain, back pain, angina pectoris, headache, syncope, pain, chronic pain, sciatica, exanthema, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi according to GeneCards Suite gene sharing:

26 (showing 74, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.84 PIK3CA
2 Decreased viability GR00055-A-2 10.84 PIK3CA
3 Decreased viability GR00173-A 10.84 PIK3R2
4 Decreased viability GR00221-A-1 10.84 AKT2 AKT3 PIK3R2 ACVRL1 AKT1 PIK3CA
5 Decreased viability GR00221-A-2 10.84 AKT3 PIK3R2 TSC1 ACVRL1 AKT1 PIK3CA
6 Decreased viability GR00221-A-3 10.84 AKT2 AKT3 TSC1 ACVRL1 AKT1 PPFIA4
7 Decreased viability GR00221-A-4 10.84 AKT2 AKT3 PIK3R2 ACVRL1 AKT1 PIK3CA
8 Decreased viability GR00249-S 10.84 PIK3R2 AKT1 PPFIA4
9 Decreased viability GR00301-A 10.84 AKT2 AKT3 PIK3R2 TSC1
10 Decreased viability GR00342-S-2 10.84 PIK3CG
11 Decreased viability GR00342-S-3 10.84 AKT2 PIK3CG
12 Decreased viability GR00402-S-2 10.84 PIK3CA PIK3CG
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.51 PECAM1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-106 10.51 AKT3
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.51 AKT2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.51 PIK3CA
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 10.51 TSC1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 10.51 ACVRL1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-157 10.51 PIK3CA
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.51 AKT1 PIK3CA
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.51 PIK3CA
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.51 ACVRL1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.51 AKT1 PIK3CA
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.51 PIK3CA
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 10.51 PECAM1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 10.51 PECAM1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.51 TSC1
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.51 TSC1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.51 PIK3CA
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.51 TSC1
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-39 10.51 AKT3
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.51 AKT1 PIK3CA
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 10.51 PIK3CA
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.51 AKT1
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.51 PIK3CA
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.51 AKT1
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 10.51 TSC1
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.51 AKT3
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.51 PECAM1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.95 PIK3R2
41 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.95 PIK3R2
42 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.95 AKT2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.95 ACVRL1 PIK3R2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.95 PIK3CG
45 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.95 AKT3
46 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.95 ACVRL1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.95 ACVRL1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.95 ACVRL1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.95 AKT2
50 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.95 AKT3
51 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.95 ACVRL1 PIK3CG
52 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.95 PIK3R2
53 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.95 AKT1
54 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.95 AKT2
55 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.95 PIK3CG
56 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.95 AKT2
57 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.95 ACVRL1
58 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.95 ACVRL1
59 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.95 AKT3
60 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.95 PIK3R2
61 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.95 PIK3CG
62 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.95 ACVRL1 AKT1 AKT2 AKT3
63 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.95 ACVRL1
64 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.95 ACVRL1
65 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.95 AKT1
66 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.95 ACVRL1
67 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.95 ACVRL1
68 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.95 PIK3R2
69 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.95 ACVRL1 AKT1 AKT2 AKT3 PIK3CG PIK3R2
70 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.95 PIK3CG
71 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.95 PIK3CG
72 Decreased cell migration GR00055-A-1 9.8 AKT1 AKT2 AKT3 PIK3R2 TSC1
73 Decreased cell migration GR00055-A-3 9.8 PIK3CA
74 Decreased cell viability after pRB stimulation GR00230-A-1 8.96 ACVRL1

MGI Mouse Phenotypes related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:

45 (showing 10, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 ACVRL1 AKT1 AKT3 ENG GNAQ PECAM1
2 homeostasis/metabolism MP:0005376 10.18 ACVRL1 AKT1 AKT2 AKT3 ENG GNAQ
3 growth/size/body region MP:0005378 10.16 ACVRL1 AKT1 AKT2 AKT3 ENG GNAQ
4 hematopoietic system MP:0005397 10.09 ACVRL1 AKT1 AKT2 AKT3 ENG GNAQ
5 muscle MP:0005369 10.06 ACVRL1 AKT1 AKT2 ENG GNAQ PECAM1
6 integument MP:0010771 9.97 AKT1 AKT2 ENG GNAQ PIK3CA PIK3CG
7 nervous system MP:0003631 9.81 ACVRL1 AKT1 AKT2 AKT3 ENG GNAQ
8 neoplasm MP:0002006 9.73 AKT1 AKT2 AKT3 PIK3CA PIK3R2 TSC1
9 normal MP:0002873 9.5 ACVRL1 AKT1 AKT2 AKT3 ENG GNAQ
10 respiratory system MP:0005388 9.17 ACVRL1 AKT1 AKT2 ENG GNAQ PECAM1

Drugs & Therapeutics for Congenital Lipomatous Overgrowth, Vascular Malformations, and...

Drugs for Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 180, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
2
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
3
Ethanol Approved Phase 4 64-17-5 702
4
Remifentanil Approved Phase 4 132875-61-7 60815
5
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
6
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
7
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
8 Ethiodized oil Approved, Investigational Phase 4 8008-53-5
9 Adrenergic alpha-Agonists Phase 4
10 Hypnotics and Sedatives Phase 4
11 Anesthetics, Intravenous Phase 4
12 Adrenergic Agonists Phase 4
13 Narcotics Phase 4
14 Anesthetics, General Phase 4
15 Analgesics, Opioid Phase 4
16 Anesthetics, Inhalation Phase 4
17 Anti-Bacterial Agents Phase 4
18 Antibiotics, Antitubercular Phase 4
19 Immunoglobulins Phase 4
20 Antibodies Phase 4
21 Antibodies, Monoclonal Phase 4
22
Petrolatum Approved, Investigational Phase 3 8009-03-8
23
Mupirocin Approved, Investigational, Vet_approved Phase 3 12650-69-0 446596
24
Bevacizumab Approved, Investigational Phase 3 216974-75-3
25
tannic acid Approved Phase 3 1401-55-4
26
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
27
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
28
Verteporfin Approved, Investigational Phase 3 129497-78-5
29 Angiogenesis Inhibitors Phase 3
30 Mitogens Phase 3
31 Veratrum Alkaloids Phase 3
32 Adrenergic Agents Phase 2, Phase 3
33 Neurotransmitter Agents Phase 2, Phase 3
34 Antihypertensive Agents Phase 2, Phase 3
35 Adrenergic beta-Antagonists Phase 2, Phase 3
36 Adrenergic Antagonists Phase 2, Phase 3
37 Anti-Arrhythmia Agents Phase 2, Phase 3
38 Vasodilator Agents Phase 2, Phase 3
39 Photosensitizing Agents Phase 3
40 Dermatologic Agents Phase 3
41
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
42
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
43
Mannitol Approved, Investigational Phase 2 69-65-8 6251 453
44
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
45
Hydroquinone Approved, Investigational Phase 2 123-31-9 785
46
Aminolevulinic acid Approved Phase 2 106-60-5 137
47
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
48
Tazarotene Approved, Investigational Phase 2 118292-40-3 5381
49
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385