Acroosteolysis-keloid-like Lesions-premature Aging Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Acroosteolysis-keloid-like lesions-premature aging syndrome is 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.

Genes related to Acroosteolysis-keloid-like Lesions-premature Aging Syndrome

PDGFRB

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Clinical Features

Top most frequent phenotypes and symptoms related to Acroosteolysis-keloid-like Lesions-premature Aging Syndrome

Hearing impairment
Scoliosis
Hypertelorism
Micrognathia
Sensorineural hearing impairment
Flexion contracture
Brachydactyly
Respiratory insufficiency
Edema
Microphthalmia

And another 39 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Acroosteolysis-keloid-like Lesions-premature Aging Syndrome Is also known as premature aging syndrome, penttinen type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Acroosteolysis-keloid-like Lesions-premature Aging Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...) View the complete list with 150 more genes Panel complete gene list BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH, TIMM8A, NKX2-1, TPI1, TREX1, XK, XPR1, VPS35, FBXO7, ANO3, HTRA2, NPC2, PINK1, MICU1, DNAJC6, CBS, LRPPRC, BSCL2, KMT2B, PANK2, NDUFAF5, SAMHD1, APTX, DNAJC5, SLC19A3, PARK7, BCAP31, MCEE, COQ8A, MLC1, TPK1, ACY1, ARX, RNASEH2A, MMAA, IFIH1, VPS13A, MMAB, MECR, AARS, L2HGDH, TPP1, CLN3, CLN5, CLN6, TUBB4A, CLN8, THAP1, SLC39A14, AARS2, HACE1, SERAC1, FA2H, PDHX, COL4A1, ADAR, COX10, COX15, CP, UBA5, ADCY5, NDUFA12, RNASEH2C, TACO1, CSF1R, MMADHC, CTSD, CTSF, SLC30A10, C19orf12, VAC14, RNASEH2B, KCTD17, DCAF17, TTC19, CYP27A1, HEPACAM, FOXRED1, COX20, DDC, NDUFAF2, MFSD8, NDUFAF6, DNAJC12, WDR45, DLAT, TBC1D24, EARS2, TOR1AIP1, LIPT1, UQCRQ, COASY, ATP13A2, PRRT2, CLPB, TOR1A, AFG3L2, ECHS1, SDHAF1, FOXG1, FTL, FUCA1, GAMT, GCDH, GCH1, GLB1, GM2A, GNAL, GNAO1, GNB1, ALS2, GRN, HEXA, HIVEP2, HPCA, HPRT1, MDH2, MECP2, ARSA, MMUT, NDUFA10, NDUFA2, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NPC1, ATM, ATP1A2, ATP1A3, NUP62, PRKN, ATP7B, PDGFB, PDGFRB, PDHA1, AUH, PLA2G6, PLP1, PNKD, PNKP, POLG, PPT1, PRKRA, PSEN1, PTS, QDPR Specificity 1 % Genes 100 %
PDGFRB. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). PDGFRB Specificity 100 % Genes 100 %
Myeloproliferative disorder with eosinophilia (sequence analysis of PDGFRB gene). By CGC Genetics (Portugal). PDGFRB Specificity 100 % Genes 100 %
RT-PCR t(5;12) (TEL/PDGFRb). By CGC Genetics (Portugal). ETV6, PDGFRB Specificity 50 % Genes 100 %
Basal ganglia calcification, idiopathic 1 (sequence anaysis of PDGFRB gene). By CGC Genetics (Portugal). PDGFRB Specificity 100 % Genes 100 %
Detection by FISH of PDGFRB (5q32) rearrangements. By CGC Genetics (Portugal). PDGFRB Specificity 100 % Genes 100 %
Infantile myofibromatosis 1 (sequence analysis of PDGFRB gene). By CGC Genetics (Portugal). PDGFRB Specificity 100 % Genes 100 %
Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC20A2, XPR1, PDGFB, PDGFRB Specificity 25 % Genes 100 %

You can get up to 39 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

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