PRLMNS
MCID: PRL032
MIFTS: 57

Perlman Syndrome (PRLMNS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Perlman Syndrome

MalaCards integrated aliases for Perlman Syndrome:

Name: Perlman Syndrome 56 12 52 58 73 36 29 13 54 6 15 39
Nephroblastomatosis, Fetal Ascites, Macrosomia and Wilms Tumor 12 43 71
Nephroblastomatosis Fetal Ascites Macrosomia and Wilms Tumor 52 73
Renal Hamartomas, Nephroblastomatosis, and Fetal Gigantism 56 52
Fetal Macrosomia 43 71
Prlmns 56 73
Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome 58
Nephroblastomatosis, Fetal Ascites, Macrosomia, and Wilms Tumor 56
Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor 12
Renal Hamartomas, Nephroblastomatosis and Fetal Gigantism 12
Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 73
Nephroblastoma 71

Characteristics:

Orphanet epidemiological data:

58
perlman syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
fatal in the neonatal period (in some patients)


HPO:

31
perlman syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Perlman Syndrome

OMIM : 56 Perlman syndrome is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012). (267000)

MalaCards based summary : Perlman Syndrome, also known as nephroblastomatosis, fetal ascites, macrosomia and wilms tumor, is related to wilms tumor 1 and overgrowth syndrome, and has symptoms including abdominal pain An important gene associated with Perlman Syndrome is DIS3L2 (DIS3 Like 3'-5' Exoribonuclease 2). The drugs Meperidine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and placenta, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.

NIH Rare Diseases : 52 Perlman syndrome is a rare condition that affects the kidneys. People with this condition are generally born with renal abnormalities and have an increased risk for Wilms tumor , a rare kidney cancer that primarily affects children. Other signs and symptoms include a large birth size, low-muscle tone, characteristic facial features and developmental delay . Although the exact cause of Perlman syndrome is currently unknown, it appears to follow an autosomal recessive pattern of inheritance. Treatment is supportive and based on the signs and symptoms present in each person.

KEGG : 36 Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by polyhydramnios with neonatal macrosomia, visceromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It has been reported that germline mutations in DIS3L2 cause this disease.

UniProtKB/Swiss-Prot : 73 Perlman syndrome: An autosomal recessive congenital overgrowth syndrome. Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor. Histologic examination of the kidneys in affected children shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor.

Wikipedia : 74 Perlman syndrome (PS) (also called renal hamartomas, nephroblastomatosis and fetal gigantism) is a rare... more...

Related Diseases for Perlman Syndrome

Diseases related to Perlman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 30.9 MIR562 LIN28B LIN28A GPC3 DIS3L2
2 overgrowth syndrome 30.7 GPC3 DIS3L2
3 wilms tumor predisposition 30.5 GPC3 DIS3L2
4 kagami-ogata syndrome 11.3
5 meacham winn culler syndrome 11.3
6 gestational diabetes 10.8
7 wilms tumor 5 10.6
8 diabetes mellitus 10.5
9 polyhydramnios 10.5
10 hyperinsulinism 10.5
11 renal dysplasia 10.5
12 gigantism 10.4
13 hyperglycemia 10.4
14 glucose intolerance 10.3
15 asphyxia neonatorum 10.3
16 erb's palsy 10.3
17 body mass index quantitative trait locus 1 10.3
18 hyperinsulinemic hypoglycemia 10.3
19 cryptorchidism, unilateral or bilateral 10.3
20 hypotonia 10.3
21 insulin-like growth factor i 10.2
22 pre-eclampsia 10.2
23 beckwith-wiedemann syndrome 10.2
24 diabetes mellitus, type i 10.1
25 body mass index quantitative trait locus 11 10.1
26 maturity-onset diabetes of the young, type 3 10.1
27 body mass index quantitative trait locus 9 10.1
28 body mass index quantitative trait locus 8 10.1
29 huntington disease-like 3 10.1
30 maturity-onset diabetes of the young 10.1
31 body mass index quantitative trait locus 4 10.1
32 body mass index quantitative trait locus 10 10.1
33 body mass index quantitative trait locus 7 10.1
34 body mass index quantitative trait locus 12 10.1
35 body mass index quantitative trait locus 14 10.1
36 body mass index quantitative trait locus 18 10.1
37 body mass index quantitative trait locus 19 10.1
38 body mass index quantitative trait locus 20 10.1
39 neonatal jaundice 10.1
40 bilirubin metabolic disorder 10.1
41 placenta disease 10.1
42 cleft palate, isolated 10.0
43 macroglossia 10.0
44 volvulus of midgut 10.0
45 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
46 polycystic kidney disease 10.0
47 intestinal atresia 10.0
48 hypospadias 10.0
49 cholestasis 10.0
50 hemangioma 10.0

Graphical network of the top 20 diseases related to Perlman Syndrome:



Diseases related to Perlman Syndrome

Symptoms & Phenotypes for Perlman Syndrome

Human phenotypes related to Perlman Syndrome:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
6 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
7 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
8 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
9 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
10 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
11 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
12 open mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000194
13 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
14 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
15 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
16 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
17 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
18 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
19 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
20 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
21 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
22 hyperinsulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0000842
23 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
24 thickened helices 58 31 frequent (33%) Frequent (79-30%) HP:0000391
25 nephroblastoma 58 31 frequent (33%) Frequent (79-30%) HP:0002667
26 abnormal pancreas morphology 58 31 frequent (33%) Frequent (79-30%) HP:0012090
27 posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000358
28 broad alveolar ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000187
29 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
30 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
31 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
32 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
33 capillary hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005306
34 status epilepticus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002133
35 femoral hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100541
36 naevus flammeus of the eyelid 58 31 occasional (7.5%) Occasional (29-5%) HP:0010733
37 depressed nasal bridge 31 HP:0005280
38 seizures 58 Occasional (29-5%)
39 abnormal facial shape 31 HP:0001999
40 hypoplasia of the abdominal wall musculature 31 HP:0005247
41 abnormality of the cardiovascular system 31 HP:0001626
42 edema 31 HP:0000969
43 ascites 31 HP:0001541
44 polyhydramnios 31 HP:0001561
45 interrupted aortic arch 31 HP:0011611
46 congenital diaphragmatic hernia 31 HP:0000776
47 agenesis of corpus callosum 31 HP:0001274
48 tented upper lip vermilion 31 HP:0010804
49 large for gestational age 31 HP:0001520
50 visceromegaly 31 HP:0003271

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Head And Neck Face:
micrognathia
unusual facies
round facial fullness

Head And Neck Mouth:
open mouth
long upper lip
anteverted upper lip
inverted v-shaped upper lip

Cardiovascular Vascular:
interrupted aortic arch

Abdomen Gastrointestinal:
volvulus
distal ileal atresia

Neurologic Central Nervous System:
developmental delay
corpus callosum agenesis

Growth Other:
macrosomia
large birth size

Skin Nails Hair Hair:
upsweep of anterior scalp hair

Prenatal Manifestations:
fetal ascites without hydrops

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen External Features:
visceromegaly
abdominal muscular hypoplasia

Genitourinary Kidneys:
nephroblastomatosis
wilms tumor
bilateral renal hamartomas

Chest Diaphragm:
diaphragmatic hernia

Abdomen Pancreas:
islets of langerhans hypertrophy

Endocrine Features:
hyperinsulinism

Clinical features from OMIM:

267000

UMLS symptoms related to Perlman Syndrome:


abdominal pain

GenomeRNAi Phenotypes related to Perlman Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Aire reporter expression GR00304-A 8.8 DIS3L LIN28A TUT4

Drugs & Therapeutics for Perlman Syndrome

Drugs for Perlman Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 102)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Meperidine Approved Phase 4 57-42-1 4058
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
5
Racepinephrine Approved Phase 4 329-65-7 838
6
Metformin Approved Phase 4 657-24-9 14219 4091
7
Vincristine Approved, Investigational Phase 4 57-22-7, 2068-78-2 5978
8
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
9
Dactinomycin Approved, Investigational Phase 4 50-76-0 457193 2019
10
Epirubicin Approved Phase 4 56420-45-2 41867
11
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
12
Oxytetracycline Approved, Investigational, Vet_approved Phase 4 79-57-2 54715139 5280972
13
Pirarubicin Investigational Phase 4 72496-41-4
14 Narcotics Phase 4
15 Pharmaceutical Solutions Phase 4
16 Analgesics, Opioid Phase 4
17 Analgesics Phase 4
18 Anesthetics Phase 4
19 Epinephryl borate Phase 4
20 Insulin, Globin Zinc Phase 4
21 Hypoglycemic Agents Phase 4
22 insulin Phase 4
23 Anti-Infective Agents Phase 4
24
Liposomal doxorubicin Phase 4 31703
25 Immunosuppressive Agents Phase 4
26 Alkylating Agents Phase 4
27 Tubulin Modulators Phase 4
28 Anti-Bacterial Agents Phase 4
29 Immunologic Factors Phase 4
30 Antibiotics, Antitubercular Phase 4
31 Antirheumatic Agents Phase 4
32 Antimitotic Agents Phase 4
33
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
34
Ergonovine Approved Phase 3 60-79-7 443884
35
Lactitol Approved, Investigational Phase 3 585-88-6, 585-86-4 493591
36
Oxytocin Approved, Vet_approved Phase 3 50-56-6 53477758 439302
37
Carbetocin Approved, Investigational Phase 3 37025-55-1 71715 16681432
38
Etoposide Approved Phase 3 33419-42-0 36462
39
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
40 Vasodilator Agents Phase 2, Phase 3
41 Antihypertensive Agents Phase 2, Phase 3
42 Etoposide phosphate Phase 3
43
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
44
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60700
45
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
46 Interferon alpha-2 Phase 2
47 interferons Phase 2
48 Interferon-alpha Phase 2
49 Dermatologic Agents Phase 2
50 Keratolytic Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 66)
# Name Status NCT ID Phase Drugs
1 Induction of Labor or Waiting for Suspicion Fetal Macrosomia (DAME) Completed NCT00190320 Phase 4
2 Is There Any Effect of Meperidine on the Length of Duration of Labor? A Prospective Randomized Controlled Trial. Completed NCT01555671 Phase 4 Placebo;Meperidine
3 Outcomes of Epidural Versus Combined Spinal and Epidural (CSE) Anesthetic Technique on the Success of Trial of Labor After Cesarean (TOLAC): A Pilot Study Completed NCT02105558 Phase 4 Epidural anesthesia;Combined spinal and epidural anesthesia
4 Metformin Use to Improve Pregnancy Outcome in Women With Type 1 Diabetes. A Randomized Double-blind Placebo-controlled Multicenter Study. Recruiting NCT03765359 Phase 4 metforminhydrochloride;Placebo Oral Tablet
5 A Multicenter, Randomized, Double-blind, Prospective Study to Evaluate the Efficacy and Safety of Vincristine, Dactinomycin/Cyclophosphamide Combination Therapy Combined With Liposomal Doxorubicin/Doxorubicin/Pharmorubicin/Pirarubicin in 0.5-14 Year Old Children With Nephroblastoma. Not yet recruiting NCT03892330 Phase 4 Vincristine;Oxytetracycline/ Cyclophosphamide;Liposomal doxorubicin;Doxorubicin;Pharmorubicin;Pirarubicin
6 Use for Diazoxide in the Initial Management of Hypoglycemia in Infants of Diabetic Mothers and Infants Large for Gestation Unknown status NCT00994149 Phase 2, Phase 3 Diazoxide;Ora-plus
7 Carbetocin Versus Oxytocin in the Management of Atonic Post Partum Haemorrhage (PPH) in Women Delivered Vaginally: A Randomised Controlled Trial Unknown status NCT02410759 Phase 3 Carbetocin;Ergometrine
8 Ergometrine Versus Oxytocin in the Management of Atonic Post-partum Haemorrhage (PPH) in Women Delivered Vaginally: A Randomised Controlled Trial Unknown status NCT02306733 Phase 3 Ergometrine;Oxytocin
9 Carbetocin Versus Oxytocin in the Prevention of Post Partum Haemorrhage (PPH) in Women Undergoing Caesarean Sections for Placenta Previa: A Randomised Controlled Trial Unknown status NCT02303418 Phase 3 Carbetocin;Oxytocin
10 Nephroblastoma Clinical Trial and Study Unknown status NCT00003804 Phase 3 vincristine sulfate
11 Nephroblastoma (Wilms Tumour) Clinical Trial And Study Unknown status NCT00047138 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
12 Carbetocin Versus Oxytocin in the Prevention of Post Partum Haemorrhage (PPH) in Women Delivered Vaginally With at Least 2 Risk Factors for Atonic PPH: A Randomised Controlled Trial Completed NCT02304042 Phase 3 Carbetocin;Oxytocin
13 Carbetocin Versus Oxytocin in the Management of Atonic Post Partum Haemorrhage (PPH) in Women Delivered Vaginally: A Randomised Controlled Trial Completed NCT02304055 Phase 3 Carbetocin;Oxytocin
14 Randomized Open-label Non-inferiority Phase 3 Clinical Trial for Patients With a Stage IV Childhood Renal Tumor, Comparing Upfront Vincristine, Actinomycin-D and Doxorubicin (Standard Arm) With Upfront Vincristine, Carboplatin and Etoposide (Experimental Arm) Not yet recruiting NCT03669783 Phase 3 treatment Vincristin;treatment Actinomycin-D;treatment Doxorubicin;treatment Carboplatin;Etoposide
15 A Prospective Randomized Trial of Home Versus Hospital Care in Glucose Monitoring of Gestational Diabetes and Mild Gestational Hyperglycemia Completed NCT01441518 Phase 2
16 A Phase II Trial of All-Trans-Retinoic Acid in Combination With Interferon-Alpha 2a in Children With Recurrent Neuroblastoma or Wilms' Tumor Completed NCT00001509 Phase 2 IFN-alpha with retinoic acid
17 Mobilization by Plerixafor of Haematopoietic Stem Cells in Children Completed NCT01225419 Phase 2 Plerixafor, mozobil
18 Phase 2 Single- Arm Studies of Temozolomide in Combination With Topotecan in Refractory and Relapsed Neuroblastoma and Other Paediatric Solid Tumours Completed NCT00918320 Phase 2 Temozolomide/Hycamtin (Topotecan)
19 Dexamethasone Effect on Induction Delivery Interval at Term Randomized Controlled Trial Completed NCT03658590 Phase 1 Dexamethasone;Distilled Water
20 Effect of Fish Oil Supplementation in Women With Gestational Diabetes on Insulin Like Growth Factor-1 DNA Methylation in Newborns Unknown status NCT02371343
21 Fetal Head Circumference as a Predictor of Operative Delivery Unknown status NCT02739503
22 Induction of Labor Versus Expectant Management of Large for Gestational Age/Macrosomic Babies at Term. A Multi-center Randomized Trial Unknown status NCT02315820
23 A Customized Low Glycaemic-index (GI) Diet, Introduced at First Trimester of Pregnancy by Both Gynecologist and Dietitian, Prevents Large for Gestational Age (LGA) Newborns in Overweight/Obese Pregnant Women Unknown status NCT02750774
24 The Functional and Clinicopathological Roles and Therapeutic Implication of Connective Tissue Growth Factor in Peritoneal Metastasis of Gastric Cancer Unknown status NCT01627119
25 Comparison the Level of CTGF Protein and Related Cytokine in Pleural Effusion Among Tuberculous Pleurisy and Malignant Pleural Effusion Patients Unknown status NCT00313066
26 Effect of Fetal Front-abdominal Wall Thickness on Birth Weight and Perinatal Outcome at 24-26. Gestational Weeks Completed NCT03232294
27 Randomized Controlled, Multicenter Study Evaluating Treatment of Glucose Intolerance in Pregnancy Completed NCT00625781 Insulin aspart and Insulin human (isophane)
28 The Role of Umbilical Cord Thickness, Interventricular Septum Thickness and HbA1C Levels in Prediction of Fetal Macrosomia in Patients With Gestational Diabetes Mellitus Completed NCT02643225
29 Regulation Of Maternal Fuel Supply And Neonatal Adiposity Completed NCT00826904
30 Epigenetic Alteration of Rho Guanine Nucleotide Exchange Factor 11 (ARHGEF11) in Cord Blood Samples in Macrosomia Exposed to Intrauterine Hyperglycaemia Completed NCT03165643
31 Fructosamines and Gestational Diabetes (FRUCTO) Completed NCT02159378
32 Placental miRNA (microRNA) Profile in Fetal Overgrowth Related to Maternal Obesity Study Completed NCT01935076
33 Challenging the Gold Standard: A Pilot Study Comparing CGMS and Capillary Glucose Monitors Versus 3 Hour GTT to Diagnose Gestational Diabetes Mellitus Completed NCT01074489
34 Exercise Training in Pregnancy. Good for the Mother - Good for the Child? Completed NCT01243554
35 Incentives Targeting Gestational Weight Gain in Overweight/Obese Low Income Women Completed NCT02233673
36 Correlation Between Placental Thickness in the Second and Third Trimester and Fetal Weight Completed NCT02473991
37 Prophylactic Dextrose Gel for Newborns at High-risk for Hypoglycemia Completed NCT02523222
38 Effect of Tahneek With Dates on Hypoglycemia in Newborn Infants: A Randomised Control Trial Completed NCT03726697
39 Automated Fetal Weight Estimation: A Multicenter Validation Using Fractional Limb Volume Completed NCT03002246
40 Obesity as a Risk Factor for Small for Gestational Age and Intrauterine Growth Restriction Infants Completed NCT00371657
41 New Ultrasonographic Parameters for Fetal Weight Prediction Completed NCT03962153
42 Role of Macronutrient Diet Composition on Maternal and Infant Metabolic Outcomes in Gestational Diabetes Completed NCT01719029
43 Exploration of the Lipid Metabolism During the Diabetic Pregnancies and Research for New Biological Predictors to Nutritional Interventions Completed NCT00639964
44 Cycle Study:an Exercise Intervention to Prevent Gestational Diabetes in Overweight and Obese Chinese Pregnant Women Completed NCT02304718
45 Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma Completed NCT01353300
46 Impact of Iron/Folic Acid Versus Folic Acid Supplements During Pregnancy on Maternal and Children's Health: A Randomized Controlled Trial in China Completed NCT02221752
47 Longitudinal Studies of Breast Milk Zinc Transfer to Appropriate- and Small-for-gestational-age, Predominantly Breast Fed, Bangladeshi Infants Completed NCT01728766
48 Longitudinal Measures of Leptin in Pregnant Women Who Developed Preeclampsia Completed NCT01649167
49 Vitreous Levels of Cysteine-rich 61 in Patients With Proliferative Diabetic Retinopathy Completed NCT01920984 intravitreal injection of 1.25 mg of bevacizumab
50 The Prediction of Fetal Macrosomia by Measurement of Placenta Volume and Thickness in Pregnant Women With Diabetes Mellitus Recruiting NCT03451838

Search NIH Clinical Center for Perlman Syndrome

Cochrane evidence based reviews: fetal macrosomia

Genetic Tests for Perlman Syndrome

Genetic tests related to Perlman Syndrome:

# Genetic test Affiliating Genes
1 Perlman Syndrome 29 DIS3L2

Anatomical Context for Perlman Syndrome

MalaCards organs/tissues related to Perlman Syndrome:

40
Kidney, Eye, Placenta, Pancreas, Breast, Pancreatic Islet

Publications for Perlman Syndrome

Articles related to Perlman Syndrome:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. 56 6 61
22306653 2012
2
Perlman syndrome: four additional cases and review. 61 56 6
10508986 1999
3
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 56 6 61
6093533 1984
4
Perlman syndrome: report, prenatal findings and review. 56 61
18780370 2008
5
Perlman syndrome: clinical report and nine-year follow-up. 56 61
16278893 2005
6
A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits. 61 56
10751085 2000
7
Expanding the spectrum of the Perlman syndrome. 56 61
2840828 1988
8
Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies. 56 61
3024486 1986
9
Wilms Tumor Predisposition 6
20301471 2003
10
Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor. 56
3039839 1987
11
The Perlman familial nephroblastomatosis syndrome. 56
3010722 1986
12
Syndrome of fetal gigantism, renal hamartomas, and nephroblastomatosis with Wilms' tumor. 56
163679 1975
13
Renal hamartomas and nephroblastomatosis with fetal gigantism: a familial syndrome. 56
4353457 1973
14
Metanephric hamartomas and nephroblastomatosis in siblings. 56
4315293 1970
15
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. 61 54
11477610 2001
16
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. 54 61
10814714 2000
17
The Perlman syndrome DIS3L2 exoribonuclease safeguards endoplasmic reticulum-targeted mRNA translation and calcium ion homeostasis. 61
32457326 2020
18
Exonuclease requirements for mammalian ribosomal RNA biogenesis and surveillance. 61
31160785 2019
19
Regulation of RNA decay and cellular function by 3'-5' exoribonuclease DIS3L2. 61
30638126 2019
20
NMD-degradome sequencing reveals ribosome-bound intermediates with 3'-end non-templated nucleotides. 61
30275517 2018
21
Overgrowth syndromes and pediatric cancers: how many roads lead to IGF2? 61
30068702 2018
22
Loss of Dis3l2 partially phenocopies Perlman syndrome in mice and results in up-regulation of Igf2 in nephron progenitor cells. 61
29950491 2018
23
3' RNA Uridylation in Epitranscriptomics, Gene Regulation, and Disease. 61
30057901 2018
24
Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2. 61
28328139 2017
25
A novel role for the 3'-5' exoribonuclease Dis3L2 in controlling cell proliferation and tissue growth. 61
27630034 2016
26
Perlman syndrome nuclease DIS3L2 controls cytoplasmic non-coding RNAs and provides surveillance pathway for maturing snRNAs. 61
27431325 2016
27
Molecular basis for cytoplasmic RNA surveillance by uridylation-triggered decay in Drosophila. 61
27729457 2016
28
TUT-DIS3L2 is a mammalian surveillance pathway for aberrant structured non-coding RNAs. 61
27647875 2016
29
Dis3l2-Mediated Decay Is a Quality Control Pathway for Noncoding RNAs. 61
27498873 2016
30
Identification of factors involved in target RNA-directed microRNA degradation. 61
26809675 2016
31
Cauda equina involvement in post-radiation lower motor neuron syndrome. 61
26027999 2015
32
Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation. 61
24215131 2014
33
Mammalian DIS3L2 exoribonuclease targets the uridylated precursors of let-7 miRNAs. 61
24141620 2013
34
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome. 61
23486540 2013
35
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984. 61
24166810 2013
36
A role for the Perlman syndrome exonuclease Dis3l2 in the Lin28-let-7 pathway. 61
23594738 2013
37
Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2. 61
23613427 2013
38
Rare clinical entity Perlman syndrome: is cholestasis a new finding? 61
20726997 2011
39
Anesthetic management of an infant with Perlman syndrome. 61
17121563 2006
40
A case of Perlman syndrome presenting with hemorrhagic hemangioma. 61
16912594 2006
41
Molecular mechanisms of neonatal hyperinsulinism. 61
17003566 2006
42
Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. 61
16010678 2005
43
Antenatal sonographic features of Perlman syndrome. 61
15098877 2004
44
Post-radiation lower motor neuron syndrome. 61
19078596 2000
45
Perlman syndrome--a cause of enlarged, hyperechogenic kidneys. 61
9854726 1998
46
Perlman syndrome: a case report emphasizing its similarity to and distinction from Beckwith-Wiedemann and prune-belly syndromes. 61
9561541 1998
47
Prenatal ultrasound observations in subsequent pregnancies with Perlman syndrome. 61
9549846 1998
48
Extending the overlap of three congenital overgrowth syndromes. 61
9237499 1997
49
Molecular biology of Beckwith-Wiedemann syndrome. 61
8827075 1996
50
Perlman syndrome: report of a case with additional radiographic findings. 61
8577560 1995

Variations for Perlman Syndrome

ClinVar genetic disease variations for Perlman Syndrome:

6 (show top 50) (show all 690) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DIS3L2 NC_000002.12:g.(?_232130619)_(232130719_?)deldeletion Pathogenic 417536 2:232995329-232995429 2:232130619-232130719
2 DIS3L2 NM_152383.5(DIS3L2):c.799_800del (p.Leu267fs)deletion Pathogenic 463129 rs1553610371 2:233001278-233001279 2:232136568-232136569
3 DIS3L2 NM_152383.5(DIS3L2):c.733C>T (p.Arg245Ter)SNV Pathogenic 581845 rs199648534 2:233001212-233001212 2:232136502-232136502
4 DIS3L2 NC_000002.12:g.(?_232136462)_(232136729_?)deldeletion Pathogenic 584149 2:233001172-233001439 2:232136462-232136729
5 DIS3L2 NM_152383.5(DIS3L2):c.1610_1617delinsG (p.Lys537fs)indel Pathogenic 643481 2:233128101-233128108 2:232263391-232263398
6 DIS3L2 NM_152383.5(DIS3L2):c.1556_1565del (p.Glu519fs)deletion Pathogenic 652833 2:233128044-233128053 2:232263334-232263343
7 DIS3L2 NC_000002.12:g.(?_232249229)_(232300129_?)deldeletion Pathogenic 649080 2:233113939-233164839 2:232249229-232300129
8 DIS3L2 NC_000002.12:g.(?_232130609)_(232130729_?)deldeletion Pathogenic 830871 2:232995319-232995439
9 DIS3L2 NC_000002.12:g.(?_232130609)_(232136729_?)deldeletion Pathogenic 830733 2:232995319-233001439
10 DIS3L2 NM_152383.5(DIS3L2):c.505C>T (p.Gln169Ter)SNV Pathogenic 844242 2:232952335-232952335 2:232087625-232087625
11 DIS3L2 NM_152383.5(DIS3L2):c.1162C>T (p.Arg388Ter)SNV Pathogenic 860912 2:233075073-233075073 2:232210363-232210363
12 DIS3L2 NM_152383.5(DIS3L2):c.1573del (p.Val525fs)deletion Pathogenic 849174 2:233128063-233128063 2:232263353-232263353
13 DIS3L2 NM_152383.5(DIS3L2):c.2041C>T (p.Gln681Ter)SNV Pathogenic 836527 2:233198580-233198580 2:232333870-232333870
14 DIS3L2 NM_152383.5(DIS3L2):c.325dup (p.Asp109fs)duplication Pathogenic 844772 2:232894745-232894746 2:232030035-232030036
15 DIS3L2 NM_152383.5(DIS3L2):c.1096G>T (p.Glu366Ter)SNV Pathogenic 844346 2:233028314-233028314 2:232163604-232163604
16 DIS3L2 DIS3L2, 82.8-KB DEL, EX6DELdeletion Pathogenic 31123
17 DIS3L2 DIS3L2, 22-KB DEL, EX9DELdeletion Pathogenic 31124
18 DIS3L2 NM_152383.5(DIS3L2):c.1466G>A (p.Cys489Tyr)SNV Pathogenic 31125 rs387907116 2:233127957-233127957 2:232263247-232263247
19 DIS3L2 NM_152383.5(DIS3L2):c.2270del (p.Phe757fs)deletion Pathogenic 241972 rs878855224 2:233199189-233199189 2:232334479-232334479
20 DIS3L2 NM_152383.4(DIS3L2):c.951-?_1124+?deldeletion Pathogenic 254078 2:233028169-233028342 2:232163459-232163632
21 DIS3L2 NM_152383.5(DIS3L2):c.1740-1G>CSNV Likely pathogenic 848347 2:233194522-233194522 2:232329812-232329812
22 DIS3L2 NC_000002.12:g.(?_232329803)_(232336640_?)deldeletion Likely pathogenic 649070 2:233194513-233201350 2:232329803-232336640
23 DIS3L2 NC_000002.12:g.(?_232329803)_(232336630_?)deldeletion Likely pathogenic 831829 2:233194513-233201340
24 DIS3L2 NM_152383.4(DIS3L2):c.1924-1G>TSNV Likely pathogenic 653373 2:233195399-233195399 2:232330689-232330689
25 DIS3L2 NM_152383.4(DIS3L2):c.2011-1G>CSNV Likely pathogenic 410765 rs1060503037 2:233198549-233198549 2:232333839-232333839
26 DIS3L2 NM_152383.5(DIS3L2):c.1836G>A (p.Pro612=)SNV Conflicting interpretations of pathogenicity 416355 rs202227137 2:233194619-233194619 2:232329909-232329909
27 DIS3L2 NM_152383.4(DIS3L2):c.210+10A>GSNV Conflicting interpretations of pathogenicity 416346 rs201117797 2:232880391-232880391 2:232015681-232015681
28 DIS3L2 NM_152383.5(DIS3L2):c.453G>A (p.Pro151=)SNV Conflicting interpretations of pathogenicity 416364 rs567611268 2:232952283-232952283 2:232087573-232087573
29 DIS3L2 NM_152383.5(DIS3L2):c.108G>A (p.Lys36=)SNV Conflicting interpretations of pathogenicity 416341 rs371477071 2:232880279-232880279 2:232015569-232015569
30 DIS3L2 NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg)SNV Conflicting interpretations of pathogenicity 463125 rs201020526 2:232995389-232995389 2:232130679-232130679
31 DIS3L2 NM_152383.5(DIS3L2):c.1839C>T (p.Pro613=)SNV Conflicting interpretations of pathogenicity 531986 rs187677159 2:233194622-233194622 2:232329912-232329912
32 DIS3L2 NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly)SNV Conflicting interpretations of pathogenicity 241961 rs186865544 2:233127938-233127938 2:232263228-232263228
33 DIS3L2 NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=)SNV Conflicting interpretations of pathogenicity 241970 rs186340144 2:233198606-233198606 2:232333896-232333896
34 DIS3L2 NM_152383.5(DIS3L2):c.2124C>T (p.Asp708=)SNV Conflicting interpretations of pathogenicity 241971 rs368518323 2:233198663-233198663 2:232333953-232333953
35 DIS3L2 NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys)SNV Conflicting interpretations of pathogenicity 241980 rs201733073 2:232952240-232952240 2:232087530-232087530
36 DIS3L2 NM_152383.5(DIS3L2):c.795C>T (p.Tyr265=)SNV Conflicting interpretations of pathogenicity 241986 rs202042951 2:233001274-233001274 2:232136564-232136564
37 DIS3L2 NM_152383.5(DIS3L2):c.519C>T (p.Ser173=)SNV Conflicting interpretations of pathogenicity 334931 rs143680532 2:232952349-232952349 2:232087639-232087639
38 DIS3L2 NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=)SNV Conflicting interpretations of pathogenicity 334935 rs539081624 2:233075069-233075069 2:232210359-232210359
39 DIS3L2 NM_152383.5(DIS3L2):c.1908C>T (p.Ser636=)SNV Conflicting interpretations of pathogenicity 334942 rs778830625 2:233194691-233194691 2:232329981-232329981
40 DIS3L2 NM_152383.5(DIS3L2):c.1680G>A (p.Leu560=)SNV Conflicting interpretations of pathogenicity 334940 rs377644356 2:233164770-233164770 2:232300060-232300060
41 DIS3L2 NM_152383.5(DIS3L2):c.1599C>T (p.His533=)SNV Conflicting interpretations of pathogenicity 334939 rs760229466 2:233128090-233128090 2:232263380-232263380
42 DIS3L2 NM_152383.5(DIS3L2):c.2424G>A (p.Gln808=)SNV Conflicting interpretations of pathogenicity 334947 rs369113667 2:233200512-233200512 2:232335802-232335802
43 DIS3L2 NM_152383.5(DIS3L2):c.2637C>T (p.Pro879=)SNV Conflicting interpretations of pathogenicity 334948 rs376299829 2:233201319-233201319 2:232336609-232336609
44 DIS3L2 NM_152383.4(DIS3L2):c.1809G>A (p.Glu603=)SNV Conflicting interpretations of pathogenicity 334941 rs748787779 2:233194592-233194592 2:232329882-232329882
45 DIS3L2 NM_152383.5(DIS3L2):c.2151C>T (p.Ala717=)SNV Conflicting interpretations of pathogenicity 334944 rs747739911 2:233198690-233198690 2:232333980-232333980
46 DIS3L2 NM_152383.5(DIS3L2):c.*127A>GSNV Uncertain significance 334954 rs755515971 2:233201467-233201467 2:232336757-232336757
47 DIS3L2 NM_152383.5(DIS3L2):c.*551_*554dupduplication Uncertain significance 334961 rs886055780 2:233201889-233201890 2:232337179-232337180
48 DIS3L2 NM_152383.5(DIS3L2):c.2080C>T (p.Pro694Ser)SNV Uncertain significance 334943 rs886055771 2:233198619-233198619 2:232333909-232333909
49 DIS3L2 NM_152383.5(DIS3L2):c.*361deldeletion Uncertain significance 334960 rs886055779 2:233201699-233201699 2:232336989-232336989
50 DIS3L2 NM_152383.4(DIS3L2):c.-250C>GSNV Uncertain significance 334921 rs769255550 2:232826319-232826319 2:231961609-231961609

UniProtKB/Swiss-Prot genetic disease variations for Perlman Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 DIS3L2 p.Cys489Tyr VAR_067578 rs387907116

Expression for Perlman Syndrome

Search GEO for disease gene expression data for Perlman Syndrome.

Pathways for Perlman Syndrome

GO Terms for Perlman Syndrome

Cellular components related to Perlman Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 polysome GO:0005844 9.16 LIN28A DIS3L2
2 cytoplasmic exosome (RNase complex) GO:0000177 8.96 DIS3L DIS3
3 exosome (RNase complex) GO:0000178 8.8 DIS3L2 DIS3L DIS3

Biological processes related to Perlman Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.91 TUT7 TUT4 TUT1 TENT2 SREK1IP1 MTPAP
2 gene silencing by RNA GO:0031047 9.71 TUT4 LIN28B LIN28A
3 stem cell population maintenance GO:0019827 9.7 TUT4 LIN28A DIS3L2
4 RNA phosphodiester bond hydrolysis GO:0090501 9.69 RMRP DIS3L2 DIS3
5 RNA phosphodiester bond hydrolysis, exonucleolytic GO:0090503 9.65 DIS3L2 DIS3L DIS3
6 mRNA polyadenylation GO:0006378 9.65 TUT7 TUT4 TUT1 TENT2 MTPAP
7 miRNA metabolic process GO:0010586 9.63 TUT7 TUT4 LIN28A
8 pre-miRNA processing GO:0031054 9.62 TUT7 TUT4 LIN28B LIN28A
9 RNA 3' uridylation GO:0071076 9.58 TUT7 TUT4 LIN28A
10 nuclear-transcribed mRNA poly(A) tail shortening GO:0000289 9.57 TUT7 TUT4
11 oocyte maturation GO:0001556 9.56 TUT7 TUT4
12 rRNA catabolic process GO:0016075 9.55 DIS3L DIS3
13 polyuridylation-dependent mRNA catabolic process GO:1990074 9.54 TUT7 TUT4 DIS3L2
14 negative regulation of transposition, RNA-mediated GO:0010526 9.49 TUT7 TUT4
15 RNA 3'-end processing GO:0031123 9.46 TUT7 TUT4 LIN28B LIN28A
16 miRNA catabolic process GO:0010587 9.26 TUT4 LIN28B LIN28A DIS3L2
17 histone mRNA catabolic process GO:0071044 9.02 TUT7 TUT4 TUT1 TENT2 MTPAP

Molecular functions related to Perlman Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.18 TUT7 TUT4 TUT1 TENT2 SREK1IP1 MTPAP
2 nucleic acid binding GO:0003676 9.99 TUT7 TUT4 TUT1 SREK1IP1 LIN28B LIN28A
3 RNA binding GO:0003723 9.91 TUT7 TUT4 TUT1 MTPAP LIN28B LIN28A
4 zinc ion binding GO:0008270 9.89 TUT7 TUT4 SREK1IP1 LIN28B LIN28A
5 nuclease activity GO:0004518 9.65 DIS3L2 DIS3L DIS3
6 exonuclease activity GO:0004527 9.63 DIS3L2 DIS3L DIS3
7 miRNA binding GO:0035198 9.58 TUT7 TUT4 LIN28A
8 3'-5'-exoribonuclease activity GO:0000175 9.54 DIS3L2 DIS3L DIS3
9 ribonuclease activity GO:0004540 9.5 DIS3L2 DIS3L DIS3
10 uridylyltransferase activity GO:0070569 9.43 TUT7 TUT4
11 nucleotidyltransferase activity GO:0016779 9.35 TUT7 TUT4 TUT1 TENT2 MTPAP
12 RNA uridylyltransferase activity GO:0050265 9.33 TUT7 TUT4 TUT1
13 polynucleotide adenylyltransferase activity GO:0004652 9.02 TUT7 TUT4 TUT1 TENT2 MTPAP

Sources for Perlman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....