PENTT
MCID: PRM206
MIFTS: 33

Premature Aging Syndrome, Penttinen Type (PENTT)

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

Aliases & Classifications for Premature Aging Syndrome, Penttinen Type

MalaCards integrated aliases for Premature Aging Syndrome, Penttinen Type:

Name: Premature Aging Syndrome, Penttinen Type 57 20 58 72 29 6
Penttinen-Aula Syndrome 20 72 70
Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome 20 58
Penttinen Syndrome 57 72
Pentt 57 72
Prematurely Aged Appearance, Delayed Bone Maturation, Acro-Osteolysis, and Brachydactyly 20
Aging, Premature, Syndrome, Penttinen Type 39
Premature Aging Syndrome Penttinen Type 20

Characteristics:

Orphanet epidemiological data:

58
acroosteolysis-keloid-like lesions-premature aging syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
premature aging syndrome, penttinen type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Premature Aging Syndrome, Penttinen Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 363665 Definition A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

MalaCards based summary : Premature Aging Syndrome, Penttinen Type, also known as penttinen-aula syndrome, is related to aging and premature aging. An important gene associated with Premature Aging Syndrome, Penttinen Type is PDGFRB (Platelet Derived Growth Factor Receptor Beta). Affiliated tissues include bone, skeletal muscle and thyroid, and related phenotypes are scoliosis and wormian bones

OMIM® : 57 Penttinen syndrome is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015). (601812) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Premature aging syndrome, Penttinen type: A syndrome characterized by a prematurely aged appearance with lipoatrophy, epidermal and dermal atrophy along with hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acro-osteolysis.

Related Diseases for Premature Aging Syndrome, Penttinen Type

Diseases related to Premature Aging Syndrome, Penttinen Type via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 11, show less)
# Related Disease Score Top Affiliating Genes
1 aging 10.4
2 premature aging 10.4
3 acroosteolysis 10.2
4 keloid disorder 10.2
5 progeroid syndrome 10.2
6 overgrowth syndrome 10.2
7 infantile myofibromatosis 10.1
8 hutchinson-gilford progeria syndrome 10.0
9 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0
10 basal ganglia calcification 10.0
11 exophthalmos 10.0

Graphical network of the top 20 diseases related to Premature Aging Syndrome, Penttinen Type:



Diseases related to Premature Aging Syndrome, Penttinen Type

Symptoms & Phenotypes for Premature Aging Syndrome, Penttinen Type

Human phenotypes related to Premature Aging Syndrome, Penttinen Type:

31 (showing 25, show less)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 wormian bones 31 occasional (7.5%) HP:0002645
3 osteopenia 31 HP:0000938
4 delayed skeletal maturation 31 HP:0002750
5 sensorineural hearing impairment 31 HP:0000407
6 lipoatrophy 31 HP:0100578
7 hyperkeratosis 31 HP:0000962
8 micrognathia 31 HP:0000347
9 slender long bone 31 HP:0003100
10 hypoplasia of the maxilla 31 HP:0000327
11 delayed eruption of teeth 31 HP:0000684
12 brachydactyly 31 HP:0001156
13 proptosis 31 HP:0000520
14 prominent nasal bridge 31 HP:0000426
15 thin vermilion border 31 HP:0000233
16 midface retrusion 31 HP:0011800
17 delayed cranial suture closure 31 HP:0000270
18 sparse hair 31 HP:0008070
19 abnormality of the skin 31 HP:0000951
20 hypermetropia 31 HP:0000540
21 osteolytic defects of the phalanges of the hand 31 HP:0009771
22 increased thyroid-stimulating hormone level 31 HP:0002925
23 thin calvarium 31 HP:0010539
24 narrow nose 31 HP:0000460
25 growth abnormality 31 HP:0001507

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal:
osteopenia
delayed bone maturation

Skin Nails Hair Skin Histology:
hyperkeratosis
epidermal atrophy
dermal fibrosis
nonspecific mononuclear inflammation
lack of elastic fibers in reticular dermis

Head And Neck Eyes:
proptosis
recurrent pterygia (in some patients)

Skeletal Skull:
thin calvarium
maxillary hypoplasia
mandibular hypoplasia
zygomatic arch hypoplasia
delayed closure of fontanels
more
Head And Neck Face:
midface hypoplasia

Skeletal Feet:
acroosteolysis
brachydactyly (in some patients)
contractures of toes

Head And Neck Mouth:
thin lips

Skeletal Limbs:
thin long bones
contractures of joints

Skin Nails Hair Skin:
progressive cutaneous atrophy
thin translucent skin with prominent venous patterning
hypertrophic keloid-like lesions
skin retraction

Muscle Soft Tissue:
lipoatrophy

Skeletal Hands:
brachydactyly
acroosteolysis
contractures of fingers

Skin Nails Hair Hair:
sparse hair

Head And Neck Nose:
narrow nose
convex nasal bridge

Head And Neck Teeth:
delayed tooth eruption

Head And Neck Ears:
sensorineural hearing loss (rare)

Skeletal Spine:
scoliosis (in some patients)

Growth Height:
normal or increased

Neurologic Central Nervous System:
normal intellect

Clinical features from OMIM®:

601812 (Updated 20-May-2021)

Drugs & Therapeutics for Premature Aging Syndrome, Penttinen Type

Search Clinical Trials , NIH Clinical Center for Premature Aging Syndrome, Penttinen Type

Genetic Tests for Premature Aging Syndrome, Penttinen Type

Genetic tests related to Premature Aging Syndrome, Penttinen Type:

# Genetic test Affiliating Genes
1 Premature Aging Syndrome, Penttinen Type 29 PDGFRB

Anatomical Context for Premature Aging Syndrome, Penttinen Type

MalaCards organs/tissues related to Premature Aging Syndrome, Penttinen Type:

40
Bone, Skeletal Muscle, Thyroid

Publications for Premature Aging Syndrome, Penttinen Type

Articles related to Premature Aging Syndrome, Penttinen Type:

(showing 10, show less)
# Title Authors PMID Year
1
Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type. 57 6 61
23720404 2013
2
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. 6 57
26279204 2015
3
New progeroid disorder. 6 57
9056558 1997
4
PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis. 6
28334876 2017
5
Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene. 6
28183292 2017
6
PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib. 6
26455322 2016
7
Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG? 6
25158255 2014
8
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. 6
23731542 2013
9
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. 6
23731537 2013
10
Premature Aging Syndrome, Penttinen Type: Report of a Chinese Case with a PDGFRB Mutation. 61
29944170 2018

Variations for Premature Aging Syndrome, Penttinen Type

ClinVar genetic disease variations for Premature Aging Syndrome, Penttinen Type:

6 (showing 73, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDGFRB NM_002609.4(PDGFRB):c.1994T>C (p.Val665Ala) SNV Pathogenic 495300 rs1554108211 GRCh37: 5:149503842-149503842
GRCh38: 5:150124279-150124279
2 PDGFRB NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) SNV Pathogenic 55848 rs367543286 GRCh37: 5:149505134-149505134
GRCh38: 5:150125571-150125571
3 PDGFRB NM_002609.4(PDGFRB):c.2023+5C>T SNV Uncertain significance 540599 rs369842668 GRCh37: 5:149503808-149503808
GRCh38: 5:150124245-150124245
4 PDGFRB NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn) SNV Uncertain significance 948189 GRCh37: 5:149499685-149499685
GRCh38: 5:150120122-150120122
5 PDGFRB NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu) SNV Uncertain significance 951630 GRCh37: 5:149515306-149515306
GRCh38: 5:150135743-150135743
6 PDGFRB NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp) SNV Uncertain significance 955087 GRCh37: 5:149514567-149514567
GRCh38: 5:150135004-150135004
7 PDGFRB NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val) SNV Uncertain significance 958188 GRCh37: 5:149498342-149498342
GRCh38: 5:150118779-150118779
8 PDGFRB NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile) SNV Uncertain significance 958594 GRCh37: 5:149500570-149500570
GRCh38: 5:150121007-150121007
9 PDGFRB NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys) SNV Uncertain significance 971582 GRCh37: 5:149515148-149515148
GRCh38: 5:150135585-150135585
10 PDGFRB NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys) SNV Uncertain significance 1005357 GRCh37: 5:149505128-149505128
GRCh38: 5:150125565-150125565
11 PDGFRB NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn) SNV Uncertain significance 1009692 GRCh37: 5:149501461-149501461
GRCh38: 5:150121898-150121898
12 PDGFRB NC_000005.9:g.(?_149503793)_(149516630_?)dup Duplication Uncertain significance 1010852 GRCh37: 5:149503793-149516630
GRCh38:
13 PDGFRB NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys) SNV Uncertain significance 1010869 GRCh37: 5:149498324-149498324
GRCh38: 5:150118761-150118761
14 PDGFRB NM_002609.4(PDGFRB):c.631+1G>A SNV Uncertain significance 1017376 GRCh37: 5:149514312-149514312
GRCh38: 5:150134749-150134749
15 PDGFRB NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys) SNV Uncertain significance 863633 GRCh37: 5:149505049-149505049
GRCh38: 5:150125486-150125486
16 PDGFRB NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys) SNV Uncertain significance 863739 GRCh37: 5:149515439-149515439
GRCh38: 5:150135876-150135876
17 PDGFRB NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) SNV Uncertain significance 582961 rs1562011077 GRCh37: 5:149514460-149514460
GRCh38: 5:150134897-150134897
18 PDGFRB NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg) SNV Uncertain significance 581169 rs374802057 GRCh37: 5:149511568-149511568
GRCh38: 5:150132005-150132005
19 PDGFRB NM_002609.4(PDGFRB):c.2464-3C>T SNV Uncertain significance 572749 rs571983343 GRCh37: 5:149500576-149500576
GRCh38: 5:150121013-150121013
20 PDGFRB NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) SNV Uncertain significance 576602 rs1561984983 GRCh37: 5:149497379-149497379
GRCh38: 5:150117816-150117816
21 PDGFRB NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) SNV Uncertain significance 581888 rs1312583190 GRCh37: 5:149510123-149510123
GRCh38: 5:150130560-150130560
22 PDGFRB NC_000005.9:g.(?_149503793)_(149516630_?)dup Duplication Uncertain significance 584307 GRCh37: 5:149503793-149516630
GRCh38: 5:150124230-150137067
23 PDGFRB NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) SNV Uncertain significance 639829 rs1580808180 GRCh37: 5:149512503-149512503
GRCh38: 5:150132940-150132940
24 PDGFRB NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) SNV Uncertain significance 656806 rs770027941 GRCh37: 5:149505038-149505038
GRCh38: 5:150125475-150125475
25 PDGFRB NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) SNV Uncertain significance 663275 rs765124485 GRCh37: 5:149509449-149509449
GRCh38: 5:150129886-150129886
26 PDGFRB NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) SNV Likely benign 707690 rs2229560 GRCh37: 5:149514363-149514363
GRCh38: 5:150134800-150134800
27 PDGFRB NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=) SNV Likely benign 711863 rs199649903 GRCh37: 5:149504384-149504384
GRCh38: 5:150124821-150124821
28 PDGFRB NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=) SNV Likely benign 712778 rs375836509 GRCh37: 5:149497285-149497285
GRCh38: 5:150117722-150117722
29 PDGFRB NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=) SNV Likely benign 712779 rs776113877 GRCh37: 5:149497321-149497321
GRCh38: 5:150117758-150117758
30 PDGFRB NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) SNV Likely benign 733483 rs35731372 GRCh37: 5:149497358-149497358
GRCh38: 5:150117795-150117795
31 PDGFRB NM_002609.4(PDGFRB):c.726G>C (p.Val242=) SNV Likely benign 735955 rs149027530 GRCh37: 5:149513477-149513477
GRCh38: 5:150133914-150133914
32 PDGFRB NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=) SNV Likely benign 767315 rs141511317 GRCh37: 5:149495443-149495443
GRCh38: 5:150115880-150115880
33 PDGFRB NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) SNV Likely benign 772270 rs147303614 GRCh37: 5:149515219-149515219
GRCh38: 5:150135656-150135656
34 PDGFRB NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=) SNV Likely benign 772273 rs371192118 GRCh37: 5:149509345-149509345
GRCh38: 5:150129782-150129782
35 PDGFRB NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp) SNV Likely benign 707454 rs142992960 GRCh37: 5:149509395-149509395
GRCh38: 5:150129832-150129832
36 PDGFRB NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His) SNV Likely benign 783158 rs75748462 GRCh37: 5:149497346-149497346
GRCh38: 5:150117783-150117783
37 PDGFRB NM_002609.4(PDGFRB):c.2919G>A (p.Val973=) SNV Likely benign 785900 rs370594710 GRCh37: 5:149497399-149497399
GRCh38: 5:150117836-150117836
38 PDGFRB NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala) SNV Likely benign 540600 rs540480924 GRCh37: 5:149509427-149509427
GRCh38: 5:150129864-150129864
39 PDGFRB NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=) SNV Likely benign 736581 rs555800957 GRCh37: 5:149501549-149501549
GRCh38: 5:150121986-150121986
40 PDGFRB NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=) SNV Likely benign 712760 rs144234864 GRCh37: 5:149499618-149499618
GRCh38: 5:150120055-150120055
41 PDGFRB NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=) SNV Benign 540602 rs56078873 GRCh37: 5:149505054-149505054
GRCh38: 5:150125491-150125491
42 PDGFRB NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=) SNV Benign 540601 rs55647240 GRCh37: 5:149498370-149498370
GRCh38: 5:150118807-150118807
43 PDGFRB NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) SNV Benign 286389 rs41287108 GRCh37: 5:149500514-149500514
GRCh38: 5:150120951-150120951
44 PDGFRB NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) SNV Benign 285888 rs41287112 GRCh37: 5:149512494-149512494
GRCh38: 5:150132931-150132931
45 PDGFRB NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) SNV Benign 377063 rs2229558 GRCh37: 5:149512407-149512407
GRCh38: 5:150132844-150132844
46 PDGFRB NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=) SNV Benign 772148 rs150562879 GRCh37: 5:149509360-149509360
GRCh38: 5:150129797-150129797
47 PDGFRB NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=) SNV Benign 707672 rs116171826 GRCh37: 5:149509506-149509506
GRCh38: 5:150129943-150129943
48 PDGFRB NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His) SNV Benign 707673 rs149274963 GRCh37: 5:149509523-149509523
GRCh38: 5:150129960-150129960
49 PDGFRB NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys) SNV Benign 772279 rs200684708 GRCh37: 5:149512332-149512332
GRCh38: 5:150132769-150132769
50 PDGFRB NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys) SNV Benign 772509 rs116642123 GRCh37: 5:149514354-149514354
GRCh38: 5:150134791-150134791
51 PDGFRB NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=) SNV Benign 772768 rs56069016 GRCh37: 5:149512495-149512495
GRCh38: 5:150132932-150132932
52 PDGFRB NM_002609.4(PDGFRB):c.12G>A (p.Pro4=) SNV Benign 772769 rs138641101 GRCh37: 5:149516599-149516599
GRCh38: 5:150137036-150137036
53 PDGFRB NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=) SNV Benign 774381 rs371550567 GRCh37: 5:149509462-149509462
GRCh38: 5:150129899-150129899
54 PDGFRB NM_002609.4(PDGFRB):c.1872T>C (p.His624=) SNV Benign 767318 rs141371542 GRCh37: 5:149504330-149504330
GRCh38: 5:150124767-150124767
55 PDGFRB NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=) SNV Benign 767332 rs200225593 GRCh37: 5:149512321-149512321
GRCh38: 5:150132758-150132758
56 PDGFRB NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=) SNV Benign 767571 rs183852315 GRCh37: 5:149495377-149495377
GRCh38: 5:150115814-150115814
57 PDGFRB NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe) SNV Benign 770053 rs142689325 GRCh37: 5:149502624-149502624
GRCh38: 5:150123061-150123061
58 PDGFRB NM_002609.4(PDGFRB):c.714C>T (p.Ile238=) SNV Benign 770095 rs41287114 GRCh37: 5:149513489-149513489
GRCh38: 5:150133926-150133926
59 PDGFRB NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=) SNV Benign 771564 rs139623802 GRCh37: 5:149498325-149498325
GRCh38: 5:150118762-150118762
60 PDGFRB NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) SNV Benign 707132 rs114435947 GRCh37: 5:149495360-149495360
GRCh38: 5:150115797-150115797
61 PDGFRB NM_002609.4(PDGFRB):c.1579+10C>T SNV Benign 707151 rs571420039 GRCh37: 5:149509310-149509310
GRCh38: 5:150129747-150129747
62 PDGFRB NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=) SNV Benign 707246 rs143375423 GRCh37: 5:149500535-149500535
GRCh38: 5:150120972-150120972
63 PDGFRB NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys) SNV Benign 707343 rs200203294 GRCh37: 5:149511562-149511562
GRCh38: 5:150131999-150131999
64 PDGFRB NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val) SNV Benign 473406 rs149417689 GRCh37: 5:149497199-149497199
GRCh38: 5:150117636-150117636
65 PDGFRB NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln) SNV Benign 473403 rs148974733 GRCh37: 5:149509394-149509394
GRCh38: 5:150129831-150129831
66 PDGFRB NM_002609.4(PDGFRB):c.102C>T (p.Val34=) SNV Benign 473399 rs17708515 GRCh37: 5:149515380-149515380
GRCh38: 5:150135817-150135817
67 PDGFRB NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) SNV Benign 473404 rs56072663 GRCh37: 5:149504348-149504348
GRCh38: 5:150124785-150124785
68 PDGFRB NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) SNV Benign 473401 rs74943037 GRCh37: 5:149509508-149509508
GRCh38: 5:150129945-150129945
69 PDGFRB NM_002609.4(PDGFRB):c.365-4G>T SNV Benign 473407 rs139448702 GRCh37: 5:149514583-149514583
GRCh38: 5:150135020-150135020
70 PDGFRB NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) SNV Benign 473402 rs41287110 GRCh37: 5:149509446-149509446
GRCh38: 5:150129883-150129883
71 PDGFRB NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) SNV Benign 258780 rs17110944 GRCh37: 5:149515397-149515397
GRCh38: 5:150135834-150135834
72 PDGFRB NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=) SNV Benign 473405 rs148709288 GRCh37: 5:149499657-149499657
GRCh38: 5:150120094-150120094
73 PDGFRB NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) SNV Benign 473400 rs2228439 GRCh37: 5:149511636-149511636
GRCh38: 5:150132073-150132073

UniProtKB/Swiss-Prot genetic disease variations for Premature Aging Syndrome, Penttinen Type:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 PDGFRB p.Val665Ala VAR_075866 rs155410821

Expression for Premature Aging Syndrome, Penttinen Type

Search GEO for disease gene expression data for Premature Aging Syndrome, Penttinen Type.

Pathways for Premature Aging Syndrome, Penttinen Type

GO Terms for Premature Aging Syndrome, Penttinen Type

Sources for Premature Aging Syndrome, Penttinen Type

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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