MCID: PRG024
MIFTS: 12

Progeroid Syndrome Petty Type

Categories: Rare diseases

Aliases & Classifications for Progeroid Syndrome Petty Type

MalaCards integrated aliases for Progeroid Syndrome Petty Type:

Name: Progeroid Syndrome Petty Type 20 6
Petty Laxova Wiedemann Syndrome 20 70
Progeroid Syndrome Congenital Petty Type 20

Classifications:



External Ids:

UMLS 70 C2931653

Summaries for Progeroid Syndrome Petty Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2963 Definition Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia ), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus ), are also commonly associated.

MalaCards based summary : Progeroid Syndrome Petty Type, also known as petty laxova wiedemann syndrome, is related to fontaine progeroid syndrome and autosomal dominant deafness-onychodystrophy syndrome. An important gene associated with Progeroid Syndrome Petty Type is SLC25A24 (Solute Carrier Family 25 Member 24). Affiliated tissues include eye.

Related Diseases for Progeroid Syndrome Petty Type

Diseases related to Progeroid Syndrome Petty Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fontaine progeroid syndrome 11.6
2 autosomal dominant deafness-onychodystrophy syndrome 11.3

Symptoms & Phenotypes for Progeroid Syndrome Petty Type

Drugs & Therapeutics for Progeroid Syndrome Petty Type

Search Clinical Trials , NIH Clinical Center for Progeroid Syndrome Petty Type

Genetic Tests for Progeroid Syndrome Petty Type

Anatomical Context for Progeroid Syndrome Petty Type

MalaCards organs/tissues related to Progeroid Syndrome Petty Type:

40
Eye

Publications for Progeroid Syndrome Petty Type

Articles related to Progeroid Syndrome Petty Type:

# Title Authors PMID Year
1
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. 6
29100094 2017
2
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 6
29100093 2017
3
Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin-Chaudhry-Moss syndrome--a case report. 6
21216154 2011
4
Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies. 6
19731360 2009
5
Can Hutchinson-Gilford progeria syndrome be a neonatal condition? 6
10594888 1999
6
Lethal neonatal Hutchinson-Gilford progeria syndrome. 6
10215548 1999

Variations for Progeroid Syndrome Petty Type

ClinVar genetic disease variations for Progeroid Syndrome Petty Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A24 NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) SNV Pathogenic 370032 rs1553253989 GRCh37: 1:108700103-108700103
GRCh38: 1:108157481-108157481
2 SLC25A24 NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) SNV Pathogenic 369980 rs1553253990 GRCh37: 1:108700104-108700104
GRCh38: 1:108157482-108157482
3 SLC25A24 NM_013386.5(SLC25A24):c.812_822+1del Deletion Uncertain significance 1032578 GRCh37: 1:108697604-108697615
GRCh38: 1:108154982-108154993

Expression for Progeroid Syndrome Petty Type

Search GEO for disease gene expression data for Progeroid Syndrome Petty Type.

Pathways for Progeroid Syndrome Petty Type

GO Terms for Progeroid Syndrome Petty Type

Sources for Progeroid Syndrome Petty 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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