MCID: PRL032
MIFTS: 45

Perlman Syndrome

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

Aliases & Classifications for Perlman Syndrome

MalaCards integrated aliases for Perlman Syndrome:

Name: Perlman Syndrome 57 12 53 59 75 37 13 55 15 40
Nephroblastomatosis, Fetal Ascites, Macrosomia and Wilms Tumor 12 44 73
Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 75 29 6
Nephroblastomatosis Fetal Ascites Macrosomia and Wilms Tumor 53 75
Renal Hamartomas, Nephroblastomatosis, and Fetal Gigantism 57 53
Fetal Macrosomia 44 73
Prlmns 57 75
Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome 59
Nephroblastomatosis, Fetal Ascites, Macrosomia, and Wilms Tumor 57
Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor 12
Renal Hamartomas, Nephroblastomatosis and Fetal Gigantism 12
Nephroblastoma 73

Characteristics:

Orphanet epidemiological data:

59
perlman syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
perlman syndrome:
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Perlman Syndrome, also known as nephroblastomatosis, fetal ascites, macrosomia and wilms tumor, is related to wilms tumor 1 and fetal macrosomia, 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 Metabolism of fat-soluble vitamins and Diseases of glycosylation. Affiliated tissues include kidney, eye and pancreas, and related phenotypes are macrocephaly and low-set ears

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

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.

Wikipedia : 76 Perlman syndrome (PS) (also called renal hamartomas, nephroblastomatosis and fetal gigantism) is a rare... more...

Related Diseases for Perlman Syndrome

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



Diseases related to Perlman Syndrome

Symptoms & Phenotypes for Perlman Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

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

Abdomen External Features:
visceromegaly
abdominal muscular hypoplasia

Cardiovascular Vascular:
interrupted aortic arch

Genitourinary Kidneys:
wilms tumor
bilateral renal hamartomas
nephroblastomatosis

Growth Other:
macrosomia
large birth size

Skin Nails Hair Hair:
upsweep of anterior scalp hair

Prenatal Manifestations:
fetal ascites without hydrops

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Genitourinary External Genitalia Male:
cryptorchidism

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
volvulus
distal ileal atresia

Neurologic Central Nervous System:
developmental delay
corpus callosum agenesis

Chest Diaphragm:
diaphragmatic hernia

Abdomen Pancreas:
islets of langerhans hypertrophy

Endocrine Features:
hyperinsulinism


Clinical features from OMIM:

267000

Human phenotypes related to Perlman Syndrome:

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
3 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
9 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
10 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
11 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
12 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
13 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
14 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
15 broad alveolar ridges 59 32 frequent (33%) Frequent (79-30%) HP:0000187
16 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
17 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
18 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
19 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
20 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
21 hyperinsulinemia 59 32 frequent (33%) Frequent (79-30%) HP:0000842
22 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
23 open mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000194
24 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
25 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
26 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
27 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
28 thickened helices 59 32 frequent (33%) Frequent (79-30%) HP:0000391
29 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
30 nephroblastoma 59 32 frequent (33%) Frequent (79-30%) HP:0002667
31 abnormality of pancreas morphology 59 32 frequent (33%) Frequent (79-30%) HP:0012090
32 status epilepticus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002133
33 posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000358
34 naevus flammeus of the eyelid 59 32 occasional (7.5%) Occasional (29-5%) HP:0010733
35 femoral hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100541
36 agenesis of corpus callosum 32 HP:0001274
37 seizures 59 Occasional (29-5%)
38 depressed nasal bridge 32 HP:0005280
39 abnormal facial shape 32 HP:0001999
40 hypoplasia of the abdominal wall musculature 32 HP:0005247
41 abnormality of the cardiovascular system 32 HP:0001626
42 ascites 32 HP:0001541
43 edema 32 HP:0000969
44 capillary hemangiomas 59 Occasional (29-5%)
45 polyhydramnios 32 HP:0001561
46 tented upper lip vermilion 32 HP:0010804
47 large for gestational age 32 HP:0001520
48 congenital diaphragmatic hernia 32 HP:0000776
49 visceromegaly 32 HP:0003271
50 volvulus 32 HP:0002580

UMLS symptoms related to Perlman Syndrome:


abdominal pain

Drugs & Therapeutics for Perlman Syndrome

Search Clinical Trials , 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 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 29 DIS3L2

Anatomical Context for Perlman Syndrome

MalaCards organs/tissues related to Perlman Syndrome:

41
Kidney, Eye, Pancreas, Pancreatic Islet

Publications for Perlman Syndrome

Articles related to Perlman Syndrome:

(show all 25)
# Title Authors Year
1
Loss of <i>Dis3l2</i> partially phenocopies Perlman syndrome in mice and results in up-regulation of <i>Igf2</i> in nephron progenitor cells. ( 29950491 )
2018
2
Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2. ( 28328139 )
2017
3
Perlman syndrome nuclease DIS3L2 controls cytoplasmic non-coding RNAs and provides surveillance pathway for maturing snRNAs. ( 27431325 )
2016
4
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. ( 24166810 )
2013
5
Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation. ( 24215131 )
2013
6
Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2. ( 23576526 )
2013
7
Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2. ( 23613427 )
2013
8
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome. ( 23486540 )
2013
9
A role for the Perlman syndrome exonuclease Dis3l2 in the Lin28-let-7 pathway. ( 23594738 )
2013
10
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. ( 22306653 )
2012
11
Rare clinical entity Perlman syndrome: is cholestasis a new finding? ( 20726997 )
2011
12
Perlman syndrome: report, prenatal findings and review. ( 18780370 )
2008
13
Anesthetic management of an infant with Perlman syndrome. ( 17121563 )
2006
14
A case of Perlman syndrome presenting with hemorrhagic hemangioma. ( 16912594 )
2006
15
Perlman syndrome: clinical report and nine-year follow-up. ( 16278893 )
2005
16
Antenatal sonographic features of Perlman syndrome. ( 15098877 )
2004
17
A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits. ( 10751085 )
2000
18
Perlman syndrome: four additional cases and review. ( 10508986 )
1999
19
Prenatal ultrasound observations in subsequent pregnancies with Perlman syndrome. ( 9549846 )
1998
20
Perlman syndrome: a case report emphasizing its similarity to and distinction from Beckwith-Wiedemann and prune-belly syndromes. ( 9561541 )
1998
21
Perlman syndrome--a cause of enlarged, hyperechogenic kidneys. ( 9854726 )
1998
22
Perlman syndrome: report of a case with additional radiographic findings. ( 8577560 )
1995
23
Expanding the spectrum of the Perlman syndrome. ( 2840828 )
1988
24
Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies. ( 3024486 )
1986
25
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. ( 6093533 )
1984

Variations for Perlman Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 DIS3L2 p.Cys489Tyr VAR_067578 rs387907116

ClinVar genetic disease variations for Perlman Syndrome:

6
(show top 50) (show all 679)
# Gene Variation Type Significance SNP ID Assembly Location
1 DIS3L2 DIS3L2, 82.8-KB DEL, EX6DEL deletion Pathogenic
2 DIS3L2 DIS3L2, 22-KB DEL, EX9DEL deletion Pathogenic
3 DIS3L2 NM_152383.4(DIS3L2): c.1466G> A (p.Cys489Tyr) single nucleotide variant Pathogenic rs387907116 GRCh37 Chromosome 2, 233127957: 233127957
4 DIS3L2 NM_152383.4(DIS3L2): c.1466G> A (p.Cys489Tyr) single nucleotide variant Pathogenic rs387907116 GRCh38 Chromosome 2, 232263247: 232263247
5 DIS3L2 DIS3L2, IVS19, G-A, +5 single nucleotide variant Pathogenic
6 DIS3L2 NM_152383.4(DIS3L2): c.301G> T (p.Ala101Ser) single nucleotide variant Uncertain significance rs199857926 GRCh38 Chromosome 2, 232030015: 232030015
7 DIS3L2 NM_152383.4(DIS3L2): c.301G> T (p.Ala101Ser) single nucleotide variant Uncertain significance rs199857926 GRCh37 Chromosome 2, 232894725: 232894725
8 DIS3L2 NM_152383.4(DIS3L2): c.309T> C (p.Asn103=) single nucleotide variant Likely benign rs774819151 GRCh38 Chromosome 2, 232030023: 232030023
9 DIS3L2 NM_152383.4(DIS3L2): c.309T> C (p.Asn103=) single nucleotide variant Likely benign rs774819151 GRCh37 Chromosome 2, 232894733: 232894733
10 DIS3L2 NM_152383.4(DIS3L2): c.366+9A> T single nucleotide variant Likely benign rs878855226 GRCh37 Chromosome 2, 232894799: 232894799
11 DIS3L2 NM_152383.4(DIS3L2): c.366+9A> T single nucleotide variant Likely benign rs878855226 GRCh38 Chromosome 2, 232030089: 232030089
12 DIS3L2 NM_152383.4(DIS3L2): c.410A> G (p.Tyr137Cys) single nucleotide variant Uncertain significance rs201733073 GRCh37 Chromosome 2, 232952240: 232952240
13 DIS3L2 NM_152383.4(DIS3L2): c.410A> G (p.Tyr137Cys) single nucleotide variant Uncertain significance rs201733073 GRCh38 Chromosome 2, 232087530: 232087530
14 DIS3L2 NM_152383.4(DIS3L2): c.424C> A (p.Pro142Thr) single nucleotide variant Uncertain significance rs878855227 GRCh38 Chromosome 2, 232087544: 232087544
15 DIS3L2 NM_152383.4(DIS3L2): c.424C> A (p.Pro142Thr) single nucleotide variant Uncertain significance rs878855227 GRCh37 Chromosome 2, 232952254: 232952254
16 DIS3L2 NM_152383.4(DIS3L2): c.426C> T (p.Pro142=) single nucleotide variant Benign/Likely benign rs73001172 GRCh37 Chromosome 2, 232952256: 232952256
17 DIS3L2 NM_152383.4(DIS3L2): c.426C> T (p.Pro142=) single nucleotide variant Benign/Likely benign rs73001172 GRCh38 Chromosome 2, 232087546: 232087546
18 DIS3L2 NM_152383.4(DIS3L2): c.702+4A> G single nucleotide variant Likely benign rs1057445 GRCh38 Chromosome 2, 232130723: 232130723
19 DIS3L2 NM_152383.4(DIS3L2): c.702+4A> G single nucleotide variant Likely benign rs1057445 GRCh37 Chromosome 2, 232995433: 232995433
20 DIS3L2 NM_152383.4(DIS3L2): c.702+10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs184764939 GRCh38 Chromosome 2, 232130729: 232130729
21 DIS3L2 NM_152383.4(DIS3L2): c.702+10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs184764939 GRCh37 Chromosome 2, 232995439: 232995439
22 DIS3L2 NM_152383.4(DIS3L2): c.783G> A (p.Leu261=) single nucleotide variant Likely benign rs367638559 GRCh38 Chromosome 2, 232136552: 232136552
23 DIS3L2 NM_152383.4(DIS3L2): c.783G> A (p.Leu261=) single nucleotide variant Likely benign rs367638559 GRCh37 Chromosome 2, 233001262: 233001262
24 DIS3L2 NM_152383.4(DIS3L2): c.795C> T (p.Tyr265=) single nucleotide variant Conflicting interpretations of pathogenicity rs202042951 GRCh38 Chromosome 2, 232136564: 232136564
25 DIS3L2 NM_152383.4(DIS3L2): c.795C> T (p.Tyr265=) single nucleotide variant Conflicting interpretations of pathogenicity rs202042951 GRCh37 Chromosome 2, 233001274: 233001274
26 DIS3L2 NM_152383.4(DIS3L2): c.871G> C (p.Ala291Pro) single nucleotide variant Uncertain significance rs753115829 GRCh37 Chromosome 2, 233001350: 233001350
27 DIS3L2 NM_152383.4(DIS3L2): c.871G> C (p.Ala291Pro) single nucleotide variant Uncertain significance rs753115829 GRCh38 Chromosome 2, 232136640: 232136640
28 DIS3L2 NM_152383.4(DIS3L2): c.1097A> C (p.Glu366Ala) single nucleotide variant Uncertain significance rs765929142 GRCh38 Chromosome 2, 232163605: 232163605
29 DIS3L2 NM_152383.4(DIS3L2): c.1097A> C (p.Glu366Ala) single nucleotide variant Uncertain significance rs765929142 GRCh37 Chromosome 2, 233028315: 233028315
30 DIS3L2 NM_152383.4(DIS3L2): c.1430T> G (p.Leu477Arg) single nucleotide variant Uncertain significance rs201719374 GRCh38 Chromosome 2, 232263211: 232263211
31 DIS3L2 NM_152383.4(DIS3L2): c.1430T> G (p.Leu477Arg) single nucleotide variant Uncertain significance rs201719374 GRCh37 Chromosome 2, 233127921: 233127921
32 DIS3L2 NM_152383.4(DIS3L2): c.1447C> G (p.Arg483Gly) single nucleotide variant Uncertain significance rs186865544 GRCh37 Chromosome 2, 233127938: 233127938
33 DIS3L2 NM_152383.4(DIS3L2): c.1447C> G (p.Arg483Gly) single nucleotide variant Uncertain significance rs186865544 GRCh38 Chromosome 2, 232263228: 232263228
34 DIS3L2 NM_152383.4(DIS3L2): c.1488T> C (p.His496=) single nucleotide variant Benign/Likely benign rs72998118 GRCh38 Chromosome 2, 232263269: 232263269
35 DIS3L2 NM_152383.4(DIS3L2): c.1488T> C (p.His496=) single nucleotide variant Benign/Likely benign rs72998118 GRCh37 Chromosome 2, 233127979: 233127979
36 DIS3L2 NM_152383.4(DIS3L2): c.1638C> T (p.Asp546=) single nucleotide variant Likely benign rs775532734 GRCh38 Chromosome 2, 232263419: 232263419
37 DIS3L2 NM_152383.4(DIS3L2): c.1638C> T (p.Asp546=) single nucleotide variant Likely benign rs775532734 GRCh37 Chromosome 2, 233128129: 233128129
38 DIS3L2 NM_152383.4(DIS3L2): c.1806C> T (p.Pro602=) single nucleotide variant Likely benign rs755655199 GRCh38 Chromosome 2, 232329879: 232329879
39 DIS3L2 NM_152383.4(DIS3L2): c.1806C> T (p.Pro602=) single nucleotide variant Likely benign rs755655199 GRCh37 Chromosome 2, 233194589: 233194589
40 DIS3L2 NM_152383.4(DIS3L2): c.1836G> C (p.Pro612=) single nucleotide variant Likely benign rs202227137 GRCh38 Chromosome 2, 232329909: 232329909
41 DIS3L2 NM_152383.4(DIS3L2): c.1836G> C (p.Pro612=) single nucleotide variant Likely benign rs202227137 GRCh37 Chromosome 2, 233194619: 233194619
42 DIS3L2 NM_152383.4(DIS3L2): c.1894G> A (p.Val632Met) single nucleotide variant Uncertain significance rs754433044 GRCh38 Chromosome 2, 232329967: 232329967
43 DIS3L2 NM_152383.4(DIS3L2): c.1894G> A (p.Val632Met) single nucleotide variant Uncertain significance rs754433044 GRCh37 Chromosome 2, 233194677: 233194677
44 DIS3L2 NM_152383.4(DIS3L2): c.1911A> C (p.Ala637=) single nucleotide variant Benign rs563679311 GRCh37 Chromosome 2, 233194694: 233194694
45 DIS3L2 NM_152383.4(DIS3L2): c.1911A> C (p.Ala637=) single nucleotide variant Benign rs563679311 GRCh38 Chromosome 2, 232329984: 232329984
46 DIS3L2 NM_152383.4(DIS3L2): c.1923T> C (p.Asn641=) single nucleotide variant Uncertain significance rs775814377 GRCh38 Chromosome 2, 232329996: 232329996
47 DIS3L2 NM_152383.4(DIS3L2): c.1923T> C (p.Asn641=) single nucleotide variant Uncertain significance rs775814377 GRCh37 Chromosome 2, 233194706: 233194706
48 DIS3L2 NM_152383.4(DIS3L2): c.2060G> A (p.Arg687Gln) single nucleotide variant Uncertain significance rs749596505 GRCh37 Chromosome 2, 233198599: 233198599
49 DIS3L2 NM_152383.4(DIS3L2): c.2060G> A (p.Arg687Gln) single nucleotide variant Uncertain significance rs749596505 GRCh38 Chromosome 2, 232333889: 232333889
50 DIS3L2 NM_152383.4(DIS3L2): c.2067C> T (p.Tyr689=) single nucleotide variant Conflicting interpretations of pathogenicity rs186340144 GRCh38 Chromosome 2, 232333896: 232333896

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
11.29 GPC3 GPC4
2
Show member pathways
10.79 GPC3 GPC4

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 anchored component of membrane GO:0031225 9.37 GPC3 GPC4
2 Golgi lumen GO:0005796 9.32 GPC3 GPC4
3 lysosomal lumen GO:0043202 9.26 GPC3 GPC4
4 anchored component of plasma membrane GO:0046658 9.16 GPC3 GPC4
5 exosome (RNase complex) GO:0000178 8.96 DIS3 DIS3L2
6 cytoplasmic exosome (RNase complex) GO:0000177 8.62 DIS3 DIS3L2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.49 DIS3 DIS3L2
2 anatomical structure morphogenesis GO:0009653 9.48 GPC3 GPC4
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.46 DIS3 DIS3L2
4 retinoid metabolic process GO:0001523 9.43 GPC3 GPC4
5 regulation of signal transduction GO:0009966 9.4 GPC3 GPC4
6 glycosaminoglycan biosynthetic process GO:0006024 9.37 GPC3 GPC4
7 glycosaminoglycan metabolic process GO:0030203 9.32 GPC3 GPC4
8 RNA phosphodiester bond hydrolysis, exonucleolytic GO:0090503 9.26 DIS3 DIS3L2
9 RNA catabolic process GO:0006401 9.16 DIS3 DIS3L2
10 glycosaminoglycan catabolic process GO:0006027 8.96 GPC3 GPC4
11 mRNA catabolic process GO:0006402 8.62 DIS3 DIS3L2

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

# Name GO ID Score Top Affiliating Genes
1 nuclease activity GO:0004518 9.26 DIS3 DIS3L2
2 exonuclease activity GO:0004527 9.16 DIS3 DIS3L2
3 3-5-exoribonuclease activity GO:0000175 8.96 DIS3 DIS3L2
4 heparan sulfate proteoglycan binding GO:0043395 8.62 GPC3 GPC4

Sources for Perlman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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