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Excerpted from the GeneReview: WFS1 Spectrum Disorder
WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.

Genes See tests for all associated and related genes

  • Also known as: ABC36, HHF1, HI, HRINS, MRP8, PHHI, PNDM3, SUR, SUR1, SUR1delta2, TNDM2, ABCC8
    Summary: ATP binding cassette subfamily C member 8

    Summary: AKT serine/threonine kinase 2

  • Also known as: ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1, ENPP1
    Summary: ectonucleotide pyrophosphatase/phosphodiesterase 1

  • Also known as: FGQTL3, GK, GLK, HHF3, HK4, HKIV, HXKP, LGLK, MODY2, PNDM1, GCK
    Summary: glucokinase

  • Also known as: GDH2, GPDM, mGDH, mGPDH, GPD2
    Summary: glycerol-3-phosphate dehydrogenase 2

  • Also known as: HMG-R, HMGA1A, HMGIY, HMGA1
    Summary: high mobility group AT-hook 1

  • Also known as: HNF-1-alpha, HNF-1A, HNF1, HNF1alpha, HNF4A, IDDM20, LFB1, MODY3, TCF-1, TCF1, HNF1A
    Summary: HNF1 homeobox A

  • Also known as: ADTKD3, FJHN, HNF-1-beta, HNF-1B, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, RCAD, T2D, TCF-2, TCF2, VHNF1, HNF1B
    Summary: HNF1 homeobox B

  • Also known as: FRTS4, HNF4, HNF4a7, HNF4a8, HNF4a9, HNF4alpha, MODY, MODY1, NR2A1, NR2A21, TCF, TCF-14, TCF14, HNF4A
    Summary: hepatocyte nuclear factor 4 alpha

  • Also known as: IMP-2, IMP2, VICKZ2, IGF2BP2
    Summary: insulin like growth factor 2 mRNA binding protein 2

  • Also known as: BSF-2, BSF2, CDF, HGF, HSF, IFN-beta-2, IFNB2, IL-6, IL6
    Summary: interleukin 6

  • Also known as: HIRS-1, IRS1
    Summary: insulin receptor substrate 1

  • Also known as: IRS-2, IRS2
    Summary: insulin receptor substrate 2

  • Also known as: BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI, PNDM2, TNDM3, KCNJ11
    Summary: potassium inwardly rectifying channel subfamily J member 11

  • Also known as: HDLCQ12, HL, HTGL, LIPH, LIPC
    Summary: lipase C, hepatic type

  • Also known as: IB1, JIP-1, JIP1, PRKM8IP, MAPK8IP1
    Summary: mitogen-activated protein kinase 8 interacting protein 1

  • Also known as: FGQTL2, MEL-1B-R, MT2, MTNR1B
    Summary: melatonin receptor 1B

  • Also known as: BETA2, BHF-1, MODY6, NEUROD, T2D, bHLHa3, NEUROD1
    Summary: neuronal differentiation 1

  • Also known as: KPD, MODY9, PAX4
    Summary: paired box 4

  • Also known as: GSF, IDX-1, IPF1, IUF1, MODY4, PAGEN1, PDX-1, STF-1, PDX1
    Summary: pancreatic and duodenal homeobox 1

  • Also known as: CIMT1, GLM1, NR1C3, PPARG1, PPARG2, PPARG5, PPARgamma, PPARG
    Summary: peroxisome proliferator activated receptor gamma

  • Also known as: GM, PP1G, PPP1R3, PPP1R3A
    Summary: protein phosphatase 1 regulatory subunit 3A

  • Also known as: PTP1B, PTPN1
    Summary: protein tyrosine phosphatase non-receptor type 1

  • Also known as: ADSF, FIZZ3, RENT, RETN1, RSTN, XCP1, RETN
    Summary: resistin

  • Also known as: GLUT2, SLC2A2
    Summary: solute carrier family 2 member 2

  • Also known as: ZNT8, ZnT-8, SLC30A8
    Summary: solute carrier family 30 member 8

  • Also known as: TCF-4, TCF4, TCF7L2
    Summary: transcription factor 7 like 2

  • Also known as: CTRCT41, WFRS, WFS, WFSL, WFS1
    Summary: wolframin ER transmembrane glycoprotein

Clinical features


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Practice guidelines

  • NICE, 2023
    UK NICE Guideline NG136, Hypertension in adults: diagnosis and management, 2023
  • NICE, 2023
    UK NICE Guideline NG18, Diabetes (type 1 and type 2) in children and young people: diagnosis and management, 2023
  • NICE, 2023
    UK NICE Guidance, Clinical Guideline CG181, Cardiovascular disease: risk assessment and reduction, including lipid modification, 2023
  • NICE, 2022
    UK NICE Guideline NG28, Type 2 diabetes in adults: management, 2022
  • NICE, 2020
    UK NICE Guideline NG3, Diabetes in pregnancy: management from preconception to the postnatal period
  • NICE, 2019
    UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019

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