PRLMNS
MCID: PRL032
MIFTS: 57

Perlman Syndrome (PRLMNS)

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

Aliases & Classifications for Perlman Syndrome

MalaCards integrated aliases for Perlman Syndrome:

Name: Perlman Syndrome 57 12 20 58 73 36 29 13 54 6 15 39
Nephroblastomatosis, Fetal Ascites, Macrosomia and Wilms Tumor 12 44 71
Nephroblastomatosis Fetal Ascites Macrosomia and Wilms Tumor 20 73
Renal Hamartomas, Nephroblastomatosis, and Fetal Gigantism 57 20
Fetal Macrosomia 44 71
Prlmns 57 73
Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome 58
Nephroblastomatosis, Fetal Ascites, Macrosomia, and Wilms Tumor 57
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®:

57 (Updated 05-Mar-2021)
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® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Perlman Syndrome, also known as nephroblastomatosis, fetal ascites, macrosomia and wilms tumor, is related to overgrowth syndrome and wilms tumor predisposition, and has symptoms including abdominal pain An important gene associated with Perlman Syndrome is DIS3L2 (DIS3 Like 3'-5' Exoribonuclease 2), and among its related pathways/superpathways are Deadenylation-dependent mRNA decay and Translational Control. The drugs Vincristine and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include eye, pancreas and breast, and related phenotypes are macrocephaly and intellectual disability

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.

GARD : 20 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 72)
# Related Disease Score Top Affiliating Genes
1 overgrowth syndrome 30.6 GPC3 DIS3L2
2 wilms tumor predisposition 30.3 GPC3 DIS3L2
3 kagami-ogata syndrome 11.1
4 gestational diabetes 10.8
5 hyperinsulinism 10.4
6 polyhydramnios 10.4
7 renal dysplasia 10.4
8 diabetes mellitus 10.4
9 gigantism 10.3
10 glucose intolerance 10.3
11 asphyxia neonatorum 10.3
12 erb's palsy 10.3
13 hyperinsulinemic hypoglycemia 10.2
14 cryptorchidism, unilateral or bilateral 10.2
15 hypotonia 10.2
16 type 1 diabetes mellitus 10.2
17 insulin-like growth factor i 10.2
18 body mass index quantitative trait locus 1 10.2
19 pre-eclampsia 10.2
20 hyperglycemia 10.2
21 placenta disease 10.2
22 beckwith-wiedemann syndrome 10.1
23 body mass index quantitative trait locus 11 10.1
24 maturity-onset diabetes of the young, type 3 10.1
25 body mass index quantitative trait locus 9 10.1
26 body mass index quantitative trait locus 8 10.1
27 huntington disease-like 3 10.1
28 maturity-onset diabetes of the young 10.1
29 body mass index quantitative trait locus 4 10.1
30 body mass index quantitative trait locus 10 10.1
31 body mass index quantitative trait locus 7 10.1
32 body mass index quantitative trait locus 12 10.1
33 body mass index quantitative trait locus 14 10.1
34 body mass index quantitative trait locus 18 10.1
35 body mass index quantitative trait locus 19 10.1
36 neonatal diabetes 10.1
37 neonatal jaundice 10.1
38 bilirubin metabolic disorder 10.1
39 poikiloderma with neutropenia 10.0 TUT1 RNU4ATAC
40 cleft palate, isolated 9.9
41 macroglossia 9.9
42 volvulus of midgut 9.9
43 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
44 polycystic kidney disease 9.9
45 intestinal atresia 9.9
46 hypospadias 9.9
47 cholestasis 9.9
48 hemangioma 9.9
49 hypoglycemia 9.9
50 aortic arch interruption 9.9

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 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
7 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
8 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
9 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
10 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
11 open mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000194
12 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
13 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
14 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
15 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
16 hypotonia 31 hallmark (90%) HP:0001252
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 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
30 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
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 seizures 58 Occasional (29-5%)
38 agenesis of corpus callosum 31 HP:0001274
39 muscular hypotonia 58 Very frequent (99-80%)
40 depressed nasal bridge 31 HP:0005280
41 abnormal facial shape 31 HP:0001999
42 hypoplasia of the abdominal wall musculature 31 HP:0005247
43 abnormality of the cardiovascular system 31 HP:0001626
44 ascites 31 HP:0001541
45 polyhydramnios 31 HP:0001561
46 interrupted aortic arch 31 HP:0011611
47 congenital diaphragmatic hernia 31 HP:0000776
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
2
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
3
Dactinomycin Approved, Investigational Phase 4 50-76-0 2019 457193
4
Epirubicin Approved Phase 4 56420-45-2 41867
5
Oxytetracycline Approved, Investigational, Vet_approved Phase 4 79-57-2 5280972 54715139
6
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
7
Pirarubicin Investigational Phase 4 72496-41-4
8 Immunosuppressive Agents Phase 4
9 Antibiotics, Antitubercular Phase 4
10 Antimitotic Agents Phase 4
11 Immunologic Factors Phase 4
12 Anti-Infective Agents Phase 4
13 Anti-Bacterial Agents Phase 4
14 Tubulin Modulators Phase 4
15 Antirheumatic Agents Phase 4
16 Alkylating Agents Phase 4
17
Liposomal doxorubicin Phase 4 31703
18
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
19
Etoposide Approved Phase 3 33419-42-0 36462
20
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
21 Antihypertensive Agents Phase 2, Phase 3
22 Vasodilator Agents Phase 2, Phase 3
23 Etoposide phosphate Phase 3
24
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
25 Keratolytic Agents Phase 2
26 interferons Phase 2
27 Interferon-alpha Phase 2
28 Interferon alpha-2 Phase 2
29 Dermatologic Agents Phase 2
30
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
31
tannic acid Approved 1401-55-4
32
Zinc Approved, Investigational 7440-66-6 32051
33
Insulin aspart Approved 116094-23-6 16132418
34
Oxytocin Approved, Vet_approved 50-56-6 439302 53477758
35 Sunflower
36 Mitogens
37 Omega 3 Fatty Acid
38 Insulin, Isophane
39 Isophane Insulin, Human
40 Isophane insulin, beef
41 Insulin, Globin Zinc
42 insulin
43 Hypoglycemic Agents

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 Induction of Labor or Waiting for Suspicion Fetal Macrosomia (DAME) Completed NCT00190320 Phase 4
2 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
3 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
4 Nephroblastoma Clinical Trial and Study Unknown status NCT00003804 Phase 3 vincristine sulfate
5 Nephroblastoma (Wilms Tumour) Clinical Trial And Study Unknown status NCT00047138 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
6 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
7 The Prediction of Fetal Macrosomia by Measurement of Placenta Volume and Thickness in Pregnant Women With Diabetes Mellitus Unknown status NCT03451838
8 Effect of Fish Oil Supplementation in Women With Gestational Diabetes on Insulin Like Growth Factor-1 DNA Methylation in Newborns Unknown status NCT02371343
9 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
10 Induction of Labor Versus Expectant Management of Large for Gestational Age/Macrosomic Babies at Term. A Multi-center Randomized Trial Unknown status NCT02315820
11 Effect of Fetal Front-abdominal Wall Thickness on Birth Weight and Perinatal Outcome at 24-26. Gestational Weeks Completed NCT03232294
12 Estimation of Fetal Weight by MR Imaging to PREdict Neonatal MACROsomia (PREMACRO Study) Completed NCT02713568
13 Regulation Of Maternal Fuel Supply And Neonatal Adiposity Completed NCT00826904
14 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
15 Longitudinal Studies of Breast Milk Zinc Transfer to Appropriate- and Small-for-gestational-age, Predominantly Breast Fed, Bangladeshi Infants Completed NCT01728766
16 Prophylactic Dextrose Gel for Newborns at High-risk for Hypoglycemia Completed NCT02523222
17 Randomized Controlled, Multicenter Study Evaluating Treatment of Glucose Intolerance in Pregnancy Completed NCT00625781 Insulin aspart and Insulin human (isophane)
18 Automated Fetal Weight Estimation: A Multicenter Validation Using Fractional Limb Volume Completed NCT03002246
19 Epigenetic Alteration of Rho Guanine Nucleotide Exchange Factor 11 (ARHGEF11) in Cord Blood Samples in Macrosomia Exposed to Intrauterine Hyperglycaemia Completed NCT03165643
20 Correlation Between Placental Thickness in the Second and Third Trimester and Fetal Weight Completed NCT02473991
21 Effect of Tahneek With Dates on Hypoglycemia in Newborn Infants: A Randomised Control Trial Completed NCT03726697
22 The Utility of Customised Growth Charts for Identifying Macrosomia and the Effect of Intervention Completed NCT04536753
23 Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma Completed NCT01353300
24 Lifestyle Intervention in Preparation for Pregnancy (LIPP) Recruiting NCT03146156
25 Study on the Relationship of Gut Microbiota and Changes of SCFAs With Glucolipid Metabolism in Pregnant Women With Abnormal Fetal Size and Their Newborns Recruiting NCT04399434
26 Therapeutic Recommendations for the Treatment of Children With Nephroblastoma in Africa. Recruiting NCT04423484
27 A Pilot Randomized Control of the Effectiveness of a Calorie-restricted Feeding in Large for Gestational Age Infants With Dysphagia Not yet recruiting NCT04599010
28 Relevance of Ultrasound Screening for Foetal Macrosomia and Description of Its Management in Champagne-Ardenne Not yet recruiting NCT04443205
29 Pharmacogenetic Study of Antimitotic Therapies Involved in Hepatic Veno-occlusive Disease in Children With Nephroblastoma or Acute Lymphoblastic Leukemia Not yet recruiting NCT04168788
30 Early Term Delivery Versus Expectant Management of the Large for Gestational Age Fetus (TEAM LGA Trial) Withdrawn NCT03218735
31 Customized Versus Population Fetal Growth Curves: A Randomized Controlled Pilot Trial Withdrawn NCT02478554

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
Eye, Pancreas, Breast, Placenta, Pancreatic Islet

Publications for Perlman Syndrome

Articles related to Perlman Syndrome:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. 61 57 6
22306653 2012
2
Perlman syndrome: four additional cases and review. 57 6 61
10508986 1999
3
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 57 6 61
6093533 1984
4
Perlman syndrome: report, prenatal findings and review. 57 61
18780370 2008
5
Perlman syndrome: clinical report and nine-year follow-up. 57 61
16278893 2005
6
A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits. 57 61
10751085 2000
7
Expanding the spectrum of the Perlman syndrome. 61 57
2840828 1988
8
Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies. 61 57
3024486 1986
9
Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor. 57
3039839 1987
10
The Perlman familial nephroblastomatosis syndrome. 57
3010722 1986
11
Syndrome of fetal gigantism, renal hamartomas, and nephroblastomatosis with Wilms' tumor. 57
163679 1975
12
Renal hamartomas and nephroblastomatosis with fetal gigantism: a familial syndrome. 57
4353457 1973
13
Metanephric hamartomas and nephroblastomatosis in siblings. 57
4315293 1970
14
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. 54 61
11477610 2001
15
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. 61 54
10814714 2000
16
Dis3L2 regulates cell proliferation and tissue growth through a conserved mechanism. 61
33370287 2020
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
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984. 61
24166810 2013
35
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
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 case report emphasizing its similarity to and distinction from Beckwith-Wiedemann and prune-belly syndromes. 61
9561541 1998
46
Prenatal ultrasound observations in subsequent pregnancies with Perlman syndrome. 61
9549846 1998
47
Extending the overlap of three congenital overgrowth syndromes. 61
9237499 1997
48
Molecular biology of Beckwith-Wiedemann syndrome. 61
8827075 1996
49
Perlman syndrome: report of a case with additional radiographic findings. 61
8577560 1995
50
Clinical phenotypes and Wilms tumor. 61
8383278 1993

Variations for Perlman Syndrome

ClinVar genetic disease variations for Perlman Syndrome:

6 (show top 50) (show all 800)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DIS3L2 DIS3L2, 82.8-KB DEL, EX6DEL Deletion Pathogenic 31123
2 DIS3L2 DIS3L2, 22-KB DEL, EX9DEL Deletion Pathogenic 31124
3 DIS3L2 NM_152383.5(DIS3L2):c.1466G>A (p.Cys489Tyr) SNV Pathogenic 31125 rs387907116 2:233127957-233127957 2:232263247-232263247
4 DIS3L2 NM_152383.5(DIS3L2):c.2270del (p.Phe757fs) Deletion Pathogenic 241972 rs878855224 2:233199189-233199189 2:232334479-232334479
5 DIS3L2 NM_152383.4(DIS3L2):c.951-?_1124+?del Deletion Pathogenic 254078 2:233028169-233028342 2:232163459-232163632
6 DIS3L2 NC_000002.12:g.(?_232130619)_(232130719_?)del Deletion Pathogenic 417536 2:232995329-232995429 2:232130619-232130719
7 DIS3L2 NM_152383.5(DIS3L2):c.799_800del (p.Leu267fs) Deletion Pathogenic 463129 rs1553610371 2:233001278-233001279 2:232136568-232136569
8 DIS3L2 NM_152383.5(DIS3L2):c.733C>T (p.Arg245Ter) SNV Pathogenic 581845 rs199648534 2:233001212-233001212 2:232136502-232136502
9 DIS3L2 NC_000002.12:g.(?_232136462)_(232136729_?)del Deletion Pathogenic 584149 2:233001172-233001439 2:232136462-232136729
10 DIS3L2 NM_152383.5(DIS3L2):c.1610_1617delinsG (p.Lys537fs) Indel Pathogenic 643481 rs1574980125 2:233128101-233128108 2:232263391-232263398
11 DIS3L2 NC_000002.12:g.(?_232249229)_(232300129_?)del Deletion Pathogenic 649080 2:233113939-233164839 2:232249229-232300129
12 DIS3L2 NM_152383.5(DIS3L2):c.2041C>T (p.Gln681Ter) SNV Pathogenic 836527 2:233198580-233198580 2:232333870-232333870
13 DIS3L2 NM_152383.5(DIS3L2):c.1556_1565del (p.Glu519fs) Deletion Pathogenic 652833 rs1574980061 2:233128044-233128053 2:232263334-232263343
14 DIS3L2 NC_000002.12:g.(?_232130609)_(232136729_?)del Deletion Pathogenic 830733 2:232995319-233001439
15 DIS3L2 NC_000002.12:g.(?_232130609)_(232130729_?)del Deletion Pathogenic 830871 2:232995319-232995439
16 DIS3L2 NM_152383.5(DIS3L2):c.505C>T (p.Gln169Ter) SNV Pathogenic 844242 2:232952335-232952335 2:232087625-232087625
17 DIS3L2 NM_152383.5(DIS3L2):c.1096G>T (p.Glu366Ter) SNV Pathogenic 844346 2:233028314-233028314 2:232163604-232163604
18 DIS3L2 NM_152383.5(DIS3L2):c.325dup (p.Asp109fs) Duplication Pathogenic 844772 2:232894745-232894746 2:232030035-232030036
19 DIS3L2 NM_152383.5(DIS3L2):c.1573del (p.Val525fs) Deletion Pathogenic 849174 2:233128063-233128063 2:232263353-232263353
20 DIS3L2 NM_152383.5(DIS3L2):c.1162C>T (p.Arg388Ter) SNV Pathogenic 860912 2:233075073-233075073 2:232210363-232210363
21 DIS3L2 NM_152383.5(DIS3L2):c.645del (p.Cys216fs) Deletion Pathogenic 935724 2:232995371-232995371 2:232130661-232130661
22 DIS3L2 NM_152383.5(DIS3L2):c.2088del (p.Leu695_Tyr696insTer) Deletion Pathogenic 939492 2:233198627-233198627 2:232333917-232333917
23 DIS3L2 NM_152383.5(DIS3L2):c.541dup (p.Ile181fs) Duplication Pathogenic 944496 2:232952370-232952371 2:232087660-232087661
24 DIS3L2 NM_152383.5(DIS3L2):c.1983del (p.Thr662fs) Deletion Pathogenic 956967 2:233195459-233195459 2:232330749-232330749
25 DIS3L2 NM_152383.5(DIS3L2):c.2170C>T (p.Arg724Ter) SNV Pathogenic 963423 2:233199090-233199090 2:232334380-232334380
26 DIS3L2 NM_152383.5(DIS3L2):c.580_581del (p.Val195fs) Microsatellite Pathogenic 953114 2:232952407-232952408 2:232087697-232087698
27 DIS3L2 NM_152383.5(DIS3L2):c.274C>T (p.Arg92Ter) SNV Pathogenic 949712 2:232894698-232894698 2:232029988-232029988
28 DIS3L2 NM_152383.5(DIS3L2):c.1787dup (p.Ile597fs) Duplication Pathogenic 950615 2:233194568-233194569 2:232329858-232329859
29 DIS3L2 NM_152383.5(DIS3L2):c.1836del (p.Gln614fs) Deletion Pathogenic 967404 2:233194619-233194619 2:232329909-232329909
30 DIS3L2 NM_152383.5(DIS3L2):c.1810C>T (p.Gln604Ter) SNV Pathogenic 970918 2:233194593-233194593 2:232329883-232329883
31 DIS3L2 NM_152383.5(DIS3L2):c.2394+1G>T SNV Likely pathogenic 966938 2:233199446-233199446 2:232334736-232334736
32 DIS3L2 NM_152383.5(DIS3L2):c.1740-1G>C SNV Likely pathogenic 848347 2:233194522-233194522 2:232329812-232329812
33 DIS3L2 NC_000002.12:g.(?_232329803)_(232336640_?)del Deletion Likely pathogenic 649070 2:233194513-233201350 2:232329803-232336640
34 DIS3L2 NC_000002.12:g.(?_232329803)_(232336630_?)del Deletion Likely pathogenic 831829 2:233194513-233201340
35 DIS3L2 NM_152383.4(DIS3L2):c.1924-1G>T SNV Likely pathogenic 653373 rs1201265438 2:233195399-233195399 2:232330689-232330689
36 DIS3L2 NM_152383.4(DIS3L2):c.2011-1G>C SNV Likely pathogenic 410765 rs1060503037 2:233198549-233198549 2:232333839-232333839
37 DIS3L2 NM_152383.5(DIS3L2):c.1839C>T (p.Pro613=) SNV Conflicting interpretations of pathogenicity 531986 rs187677159 2:233194622-233194622 2:232329912-232329912
38 DIS3L2 NM_152383.5(DIS3L2):c.1836G>A (p.Pro612=) SNV Conflicting interpretations of pathogenicity 416355 rs202227137 2:233194619-233194619 2:232329909-232329909
39 DIS3L2 NM_152383.5(DIS3L2):c.453G>A (p.Pro151=) SNV Conflicting interpretations of pathogenicity 416364 rs567611268 2:232952283-232952283 2:232087573-232087573
40 DIS3L2 NM_152383.5(DIS3L2):c.108G>A (p.Lys36=) SNV Conflicting interpretations of pathogenicity 416341 rs371477071 2:232880279-232880279 2:232015569-232015569
41 DIS3L2 NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg) SNV Conflicting interpretations of pathogenicity 463125 rs201020526 2:232995389-232995389 2:232130679-232130679
42 DIS3L2 NM_152383.5(DIS3L2):c.2151C>T (p.Ala717=) SNV Conflicting interpretations of pathogenicity 334944 rs747739911 2:233198690-233198690 2:232333980-232333980
43 DIS3L2 NM_152383.4(DIS3L2):c.210+10A>G SNV Conflicting interpretations of pathogenicity 416346 rs201117797 2:232880391-232880391 2:232015681-232015681
44 DIS3L2 NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=) SNV Conflicting interpretations of pathogenicity 334935 rs539081624 2:233075069-233075069 2:232210359-232210359
45 DIS3L2 NM_152383.5(DIS3L2):c.1908C>T (p.Ser636=) SNV Conflicting interpretations of pathogenicity 334942 rs778830625 2:233194691-233194691 2:232329981-232329981
46 DIS3L2 NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=) SNV Conflicting interpretations of pathogenicity 241970 rs186340144 2:233198606-233198606 2:232333896-232333896
47 DIS3L2 NM_152383.5(DIS3L2):c.2124C>T (p.Asp708=) SNV Conflicting interpretations of pathogenicity 241971 rs368518323 2:233198663-233198663 2:232333953-232333953
48 DIS3L2 NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) SNV Conflicting interpretations of pathogenicity 241980 rs201733073 2:232952240-232952240 2:232087530-232087530
49 DIS3L2 NM_152383.5(DIS3L2):c.1599C>T (p.His533=) SNV Conflicting interpretations of pathogenicity 334939 rs760229466 2:233128090-233128090 2:232263380-232263380
50 DIS3L2 NM_152383.5(DIS3L2):c.2637C>T (p.Pro879=) SNV Conflicting interpretations of pathogenicity 334948 rs376299829 2:233201319-233201319 2:232336609-232336609

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

Pathways related to Perlman Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.42 LSM1 DIS3L DIS3
2 11.08 LIN28B LIN28A ERI1

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 cytoplasm GO:0005737 10.15 TUT7 TUT4 TUT1 TENT2 MTPAP LSM1
2 nucleolus GO:0005730 9.73 TUT4 TUT1 LIN28B LIN28A ERI1 DIS3
3 P-body GO:0000932 9.33 LSM1 LIN28A DIS3L2
4 polysome GO:0005844 9.32 LIN28A DIS3L2
5 cytoplasmic exosome (RNase complex) GO:0000177 8.96 DIS3L DIS3
6 exosome (RNase complex) GO:0000178 8.8 DIS3L2 DIS3L DIS3

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.95 TUT7 TUT4 TUT1 TENT2 SREK1IP1 MTPAP
2 gene silencing by RNA GO:0031047 9.78 TUT4 LIN28B LIN28A ERI1
3 stem cell population maintenance GO:0019827 9.76 TUT4 LSM1 LIN28A DIS3L2
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.73 ERI1 DIS3L2 DIS3
5 RNA phosphodiester bond hydrolysis, exonucleolytic GO:0090503 9.69 DIS3L2 DIS3L DIS3
6 miRNA metabolic process GO:0010586 9.67 TUT7 TUT4 LIN28A
7 mRNA polyadenylation GO:0006378 9.65 TUT7 TUT4 TUT1 TENT2 MTPAP
8 pre-miRNA processing GO:0031054 9.62 TUT7 TUT4 LIN28B LIN28A
9 RNA 3' uridylation GO:0071076 9.61 TUT7 TUT4 LIN28A
10 RNA phosphodiester bond hydrolysis GO:0090501 9.58 DIS3L2 DIS3
11 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.58 LSM1 DIS3
12 nuclear-transcribed mRNA poly(A) tail shortening GO:0000289 9.57 TUT7 TUT4
13 oocyte maturation GO:0001556 9.55 TUT7 TUT4
14 rRNA catabolic process GO:0016075 9.54 DIS3L DIS3
15 polyuridylation-dependent mRNA catabolic process GO:1990074 9.54 TUT7 TUT4 DIS3L2
16 negative regulation of transposition, RNA-mediated GO:0010526 9.52 TUT7 TUT4
17 histone mRNA catabolic process GO:0071044 9.5 TUT7 TUT4 TUT1 TENT2 MTPAP LSM1
18 miRNA catabolic process GO:0010587 9.46 TUT4 LIN28B LIN28A DIS3L2
19 RNA 3'-end processing GO:0031123 9.17 TUT7 TUT4 TUT1 TENT2 MTPAP LIN28B

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 10.21 TUT7 TUT4 TUT1 TENT2 SREK1IP1 MTPAP
2 nucleic acid binding GO:0003676 10.02 TUT7 TUT4 TUT1 SREK1IP1 LIN28B LIN28A
3 zinc ion binding GO:0008270 9.92 TUT7 TUT4 SREK1IP1 LIN28B LIN28A
4 nuclease activity GO:0004518 9.76 ERI1 DIS3L2 DIS3L DIS3
5 RNA binding GO:0003723 9.7 TUT7 TUT4 TUT1 MTPAP LSM1 LIN28B
6 exonuclease activity GO:0004527 9.67 ERI1 DIS3L2 DIS3L DIS3
7 nucleotidyltransferase activity GO:0016779 9.65 TUT7 TUT4 TUT1 TENT2 MTPAP
8 3'-5'-exoribonuclease activity GO:0000175 9.62 ERI1 DIS3L2 DIS3L DIS3
9 miRNA binding GO:0035198 9.61 TUT7 TUT4 LIN28A
10 ribonuclease activity GO:0004540 9.58 DIS3L2 DIS3L DIS3
11 RNA adenylyltransferase activity GO:1990817 9.49 TUT1 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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