Short Stature Due To Primary Acid-labile Subunit Deficiency

Table of contents:

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

Description

Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.

Genes related to Short Stature Due To Primary Acid-labile Subunit Deficiency

IGFALS

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Clinical Features

Phenotypes and symptoms related to Short Stature Due To Primary Acid-labile Subunit Deficiency

Growth delay
Micrognathia
Delayed skeletal maturation
Delayed puberty
Insulin resistance
Truncal obesity
Decreased serum insulin-like growth factor 1
Mild postnatal growth retardation
Insulin insensitivity
Reduced insulin like growth factor binding protein acid labile subunit level

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.

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.

Short Stature Due To Primary Acid-labile Subunit Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Short stature due to primary acid-labile subunit deficiency (sequence analysis of IGFALS gene). By CGC Genetics (Portugal). IGFALS Specificity 100 % Genes 100 %
IGFALS. By Fulgent Genetics Fulgent Genetics (United States). IGFALS Specificity 100 % Genes 100 %
Comprehensive Short Stature Syndrome Panel. By Blueprint Genetics (Finland). RIT1, BCS1L, RRAS, SHOX, BRAF, SMC1A, SOS1, SOX2, SOX3, STAT5B, TBX19, TBX3, XRCC4, ACTB, HDAC8, ACTG1, CBL, SHOC2, PCNT, SRCAP , (...) View the complete list with 54 more genes Panel complete gene list RIT1, BCS1L, RRAS, SHOX, BRAF, SMC1A, SOS1, SOX2, SOX3, STAT5B, TBX19, TBX3, XRCC4, ACTB, HDAC8, ACTG1, CBL, SHOC2, PCNT, SRCAP, ORC6, CENPJ, CDC45, CDC6, RTTN, CUL7, LHX4, CREBBP, POC1A, CDT1, SMC3, LARP7, CCDC8, CEP63, DHCR7, NIPBL, OBSL1, CEP152, EP300, RNU4ATAC, FGD1, FGFR3, GH1, GHR, GHRHR, GLI2, GNAS, HESX1, HRAS, IGF1, IGF1R, IGFALS, INSR, KRAS, LHX3, LZTR1, MAP2K1, MAP2K2, TRIM37, NOTCH2, NRAS, ORC1, ORC4, OTX2, ATR, PITX2, POU1F1, B3GAT3, PROP1, PTPN11, RAD21, RAF1, RASA2, RBBP8 Specificity 2 % Genes 100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics (Finland). RIT1, RMRP, BCS1L, ROR2, BGN, RRAS, RUNX2, BMP1, BMP2, SEC24D, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, BRAF, SLC26A2, SMARCAL1, SMC1A , (...) View the complete list with 284 more genes Panel complete gene list RIT1, RMRP, BCS1L, ROR2, BGN, RRAS, RUNX2, BMP1, BMP2, SEC24D, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, BRAF, SLC26A2, SMARCAL1, SMC1A, SOS1, SOX2, SOX3, SOX9, SPARC, STAT5B, TBX15, TBX19, TBX3, TBX4, TBX6, TCF12, TCIRG1, TCOF1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT5A, XRCC4, ACTB, ADAMTS10, HDAC8, NSDHL, IFT122, CA2, SOST, NSD1, ACTG1, ADAMTSL2, SNX10, CASR, CBL, SHOC2, MBTPS2, SERPINH1, ANKH, XYLT1, SETBP1, TP63, PCNT, RAB33B, IFITM5, STAMBP, SRCAP, ACVR1, ADAMTS17, ORC6, CHSY1, CENPJ, SP7, CDC45, CDC6, KAT6B, CDKN1C, B3GALT6, TRPV4, FKBP10, WDR19, ATP6V0A2, RTTN, CREB3L1, DOCK6, NANS, P3H1, SBDS, CHST3, CANT1, EVC2, POLR1C, CLCN5, CLCN7, SLC34A3, VIPAS39, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, LHX4, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, FAM20A, TRAPPC2, SLC29A3, CREBBP, CRTAP, BMPER, CHST14, POC1A, TCTN3, CDT1, SMC3, FAM111A, FAM83H, LARP7, CTSK, CCDC8, TMEM38B, TTC21B, CEP63, IMPAD1, CYP27B1, CSPP1, AMER1, CKAP2L, ESCO2, DDR2, ANO5, WDR34, CCNQ, EOGT, DHCR24, DHCR7, NIPBL, LEMD3, IFT140, DLL3, OBSL1, DLL4, DLX3, ARHGAP31, SH3PXD2B, WDR35, IFT80, CEP152, DMP1, DYNC2H1, MESP2, IFT43, IFT172, KIF7, DVL1, EFTUD2, EBP, ACAN, EFNB1, EIF2AK3, AGPS, ENAM, ENPP1, EP300, RNU4ATAC, EVC, EXT1, BHLHA9, EXT2, EXTL3, EZH2, FANCB, FANCC, FBN1, FBN2, FGD1, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, AKT1, GALNT3, GDF5, GH1, GHR, GHRHR, GJA1, GLI2, GLI3, ALPL, GNAS, GNPAT, GPC6, ALX3, ALX4, HESX1, HOXA13, HOXD13, HRAS, HSPG2, IDS, IGF1, IGF1R, IGFALS, RBPJ, IHH, INPPL1, INSR, KIF22, KRAS, MAFB, LBR, LHX3, LIFR, LMNA, LMX1B, LRP4, LRP5, LTBP2, LTBP3, LZTR1, SMAD3, SMAD4, MAP2K1, MAP2K2, MATN3, MGP, ARSB, MMP13, MMP2, MMP9, ARSE, MSX2, TRIM37, MYCN, NEK1, NF1, NFIX, NOG, NOTCH2, NPR2, NRAS, ORC1, ORC4, OTX2, PAPSS2, PCYT1A, AIFM1, PDE4D, ATR, SERPINF1, PEX14, PEX7, PGM3, PHEX, PIK3CA, PITX2, PLOD2, PLS3, POR, POU1F1, B3GAT3, PPIB, B4GALT7, PRKAR1A, PROP1, LONP1, NKX3-2, PTDSS1, PTHLH, PTH1R, PTPN11, PEX19, PYCR1, RAD21, RAF1, RASA2, RBBP8, RECQL4 Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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