MCID: PRM206
MIFTS: 27

Premature Aging Syndrome, Penttinen Type

Categories: Genetic diseases, Skin diseases, Fetal diseases, Rare 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 59 75 29 6
Penttinen-Aula Syndrome 75 73
Pentt 57 75
Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome 59
Penttinen Syndrome 75

Characteristics:

Orphanet epidemiological data:

59
acroosteolysis-keloid-like lesions-premature aging syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
premature aging syndrome, penttinen type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Premature Aging Syndrome, Penttinen Type

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)

MalaCards based summary : Premature Aging Syndrome, Penttinen Type, also known as penttinen-aula syndrome, is related to penttinen-aula syndrome and progeroid syndrome, penttinen type. An important gene associated with Premature Aging Syndrome, Penttinen Type is PDGFRB (Platelet Derived Growth Factor Receptor Beta). Affiliated tissues include bone, skin and thyroid, and related phenotypes are thin vermilion border and delayed cranial suture closure

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 penttinen-aula syndrome 11.6
2 progeroid syndrome, penttinen type 11.6
3 aging 10.2
4 keloids 10.0

Symptoms & Phenotypes for Premature Aging Syndrome, Penttinen Type

Symptoms via clinical synopsis from OMIM:

57
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)

Head And Neck Nose:
narrow nose
convex nasal bridge

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

Skeletal Skull:
thin calvarium
maxillary hypoplasia
mandibular hypoplasia
zygomatic arch hypoplasia
delayed closure of fontanels
more
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

Human phenotypes related to Premature Aging Syndrome, Penttinen Type:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 thin vermilion border 32 HP:0000233
2 delayed cranial suture closure 32 HP:0000270
3 hypoplasia of the maxilla 32 HP:0000327
4 micrognathia 32 HP:0000347
5 sensorineural hearing impairment 32 HP:0000407
6 prominent nasal bridge 32 HP:0000426
7 narrow nose 32 HP:0000460
8 proptosis 32 HP:0000520
9 hypermetropia 32 HP:0000540
10 delayed eruption of teeth 32 HP:0000684
11 osteopenia 32 HP:0000938
12 abnormality of the skin 32 HP:0000951
13 hyperkeratosis 32 HP:0000962
14 brachydactyly 32 HP:0001156
15 growth abnormality 32 HP:0001507
16 wormian bones 32 occasional (7.5%) HP:0002645
17 scoliosis 32 occasional (7.5%) HP:0002650
18 delayed skeletal maturation 32 HP:0002750
19 increased thyroid-stimulating hormone level 32 HP:0002925
20 slender long bone 32 HP:0003100
21 sparse hair 32 HP:0008070
22 osteolytic defects of the phalanges of the hand 32 HP:0009771
23 thin calvarium 32 HP:0010539
24 midface retrusion 32 HP:0011800
25 lipoatrophy 32 HP:0100578

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:

41
Bone, Skin, Thyroid

Publications for Premature Aging Syndrome, Penttinen Type

Articles related to Premature Aging Syndrome, Penttinen Type:

# Title Authors Year
1
Premature Aging Syndrome, Penttinen Type: Report of a Chinese Case with a PDGFRB Mutation. ( 29944170 )
2018
2
Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type. ( 23720404 )
2013

Variations for Premature Aging Syndrome, Penttinen Type

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

75
# Symbol AA change Variation ID SNP ID
1 PDGFRB p.Val665Ala VAR_075866

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

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDGFRB NM_002609.3(PDGFRB): c.1994T> C (p.Val665Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 149503842: 149503842
2 PDGFRB NM_002609.3(PDGFRB): c.1994T> C (p.Val665Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 150124279: 150124279
3 PDGFRB NM_002609.3(PDGFRB): c.85A> T (p.Ile29Phe) single nucleotide variant Benign rs17110944 GRCh38 Chromosome 5, 150135834: 150135834
4 PDGFRB NM_002609.3(PDGFRB): c.85A> T (p.Ile29Phe) single nucleotide variant Benign rs17110944 GRCh37 Chromosome 5, 149515397: 149515397
5 PDGFRB NM_002609.3(PDGFRB): c.2523G> A (p.Lys841=) single nucleotide variant Benign/Likely benign rs41287108 GRCh37 Chromosome 5, 149500514: 149500514
6 PDGFRB NM_002609.3(PDGFRB): c.2523G> A (p.Lys841=) single nucleotide variant Benign/Likely benign rs41287108 GRCh38 Chromosome 5, 150120951: 150120951
7 PDGFRB NM_002609.3(PDGFRB): c.1033C> T (p.Pro345Ser) single nucleotide variant Benign/Likely benign rs2229558 GRCh37 Chromosome 5, 149512407: 149512407
8 PDGFRB NM_002609.3(PDGFRB): c.1033C> T (p.Pro345Ser) single nucleotide variant Benign/Likely benign rs2229558 GRCh38 Chromosome 5, 150132844: 150132844
9 PDGFRB NM_002609.3(PDGFRB): c.1854G> A (p.Thr618=) single nucleotide variant Benign rs56072663 GRCh37 Chromosome 5, 149504348: 149504348
10 PDGFRB NM_002609.3(PDGFRB): c.1854G> A (p.Thr618=) single nucleotide variant Benign rs56072663 GRCh38 Chromosome 5, 150124785: 150124785
11 PDGFRB NM_002609.3(PDGFRB): c.1505G> A (p.Arg502Gln) single nucleotide variant Benign rs148974733 GRCh37 Chromosome 5, 149509394: 149509394
12 PDGFRB NM_002609.3(PDGFRB): c.1505G> A (p.Arg502Gln) single nucleotide variant Benign rs148974733 GRCh38 Chromosome 5, 150129831: 150129831
13 PDGFRB NM_002609.3(PDGFRB): c.3119G> T (p.Gly1040Val) single nucleotide variant Benign rs149417689 GRCh37 Chromosome 5, 149497199: 149497199
14 PDGFRB NM_002609.3(PDGFRB): c.3119G> T (p.Gly1040Val) single nucleotide variant Benign rs149417689 GRCh38 Chromosome 5, 150117636: 150117636
15 PDGFRB NM_002609.3(PDGFRB): c.1149G> C (p.Leu383=) single nucleotide variant Benign rs2228439 GRCh37 Chromosome 5, 149511636: 149511636
16 PDGFRB NM_002609.3(PDGFRB): c.1149G> C (p.Leu383=) single nucleotide variant Benign rs2228439 GRCh38 Chromosome 5, 150132073: 150132073
17 PDGFRB NM_002609.3(PDGFRB): c.365-4G> T single nucleotide variant Benign rs139448702 GRCh38 Chromosome 5, 150135020: 150135020
18 PDGFRB NM_002609.3(PDGFRB): c.365-4G> T single nucleotide variant Benign rs139448702 GRCh37 Chromosome 5, 149514583: 149514583
19 PDGFRB NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 GRCh38 Chromosome 5, 150120094: 150120094
20 PDGFRB NM_002609.3(PDGFRB): c.2616G> A (p.Pro872=) single nucleotide variant Benign rs148709288 GRCh37 Chromosome 5, 149499657: 149499657
21 PDGFRB NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 GRCh37 Chromosome 5, 149509446: 149509446
22 PDGFRB NM_002609.3(PDGFRB): c.1453G> A (p.Glu485Lys) single nucleotide variant Benign rs41287110 GRCh38 Chromosome 5, 150129883: 150129883
23 PDGFRB NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 GRCh38 Chromosome 5, 150129945: 150129945
24 PDGFRB NM_002609.3(PDGFRB): c.1391C> T (p.Thr464Met) single nucleotide variant Benign rs74943037 GRCh37 Chromosome 5, 149509508: 149509508
25 PDGFRB NM_002609.3(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 GRCh38 Chromosome 5, 150135817: 150135817
26 PDGFRB NM_002609.3(PDGFRB): c.102C> T (p.Val34=) single nucleotide variant Benign rs17708515 GRCh37 Chromosome 5, 149515380: 149515380
27 PDGFRB NM_002609.3(PDGFRB): c.2023+5C> T single nucleotide variant Uncertain significance rs369842668 GRCh38 Chromosome 5, 150124245: 150124245
28 PDGFRB NM_002609.3(PDGFRB): c.2023+5C> T single nucleotide variant Uncertain significance rs369842668 GRCh37 Chromosome 5, 149503808: 149503808
29 PDGFRB NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=) single nucleotide variant Benign rs56078873 GRCh37 Chromosome 5, 149505054: 149505054
30 PDGFRB NM_002609.3(PDGFRB): c.1761G> A (p.Leu587=) single nucleotide variant Benign rs56078873 GRCh38 Chromosome 5, 150125491: 150125491
31 PDGFRB NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 GRCh37 Chromosome 5, 149509427: 149509427
32 PDGFRB NM_002609.3(PDGFRB): c.1472T> C (p.Val491Ala) single nucleotide variant Uncertain significance rs540480924 GRCh38 Chromosome 5, 150129864: 150129864
33 PDGFRB NM_002609.3(PDGFRB): c.2844G> A (p.Arg948=) single nucleotide variant Benign rs55647240 GRCh37 Chromosome 5, 149498370: 149498370
34 PDGFRB NM_002609.3(PDGFRB): c.2844G> A (p.Arg948=) single nucleotide variant Benign rs55647240 GRCh38 Chromosome 5, 150118807: 150118807

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

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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